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THE IMPORTANCE OF AN ALLOSTERIC POCKET IN THE DENGUE PROTEASE

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THE IMPORTANCE OF AN ALLOSTERIC POCKET IN THE DENGUE PROTEASE NOEMI REBECCA MEIER YONG LOO LIN SCHOOL OF MEDICINE 2012 THE IMPORTANCE OF AN ALLOSTERIC POCKET IN THE DENGUE PROTEASE NOEMI REBECCA MEIER B.SC. (MAJOR IN INTEGRATIVE BIOLOGY), UNIVERSITY OF BASEL A THESIS SUBMITTED FOR THE DEGREE OF MASTER OF SCIENCE IN INFECTIOUS DISEASES, VACCINOLOGY AND DRUG DISCOVERY YONG LOO LIN SCHOOL OF MEDICINE NATIONAL UNIVERSITY OF SINGAPORE & BIOZENTRUM UNIVERSITY OF BASEL 2012 Declaration   DECLARATION I hereby declare that this thesis is my original work and it has been written by me in its entirety. I have duly acknowledged all the sources of information, which have been used in the thesis. This thesis has also not been submitted for any degree in any university previously. NOEMI REBECCA MEIER 26 DECEMBER 2012 i   Acknowledgments   ACKNOWLEDGMENTS First and foremost, I would like to express my deepest gratitude to my supervisor at the Novartis Institute for Tropical Diseases (NITD), Dr. Christian Guy Noble, for his patience and trust throughout my work. This thesis would not have been possible without his guidance and support. The freedom he gave me during the course of my thesis is invaluable personally and scientifically. Special thanks go to all the people at NITD who made this an unforgettable year! I greatly enjoyed my time at NITD! Thanks to Pei-Yong Shi for his support and encouragement. I would also like to thank Alex Chao, Ka Yan Chung, Hongping Dong, Nahdiyah Ghafar, Zou Jing, Dorcas Larbi, Cheah Chen She, Le Tian Lee, Xuping Xie, Kim Long Yeo and Andy Yip for their guidance and support with my work. Thank you Boatema, Hana, Jansy, Ketan, Michelle and Pramila for your great company throughout this incredible year. I am also truly thankful to my family for giving me this unique opportunity to pursue my studies in Singapore, which would not have been possible without their support. I am grateful for their trust and belief in me. Last but not least I am grateful to all my friends back home who defied time zones and distances and who have supported me throughout my journey. ii   Table of Contents   TABLE OF CONTENTS Declaration.....................................................................................................................i Acknowledgments ........................................................................................................ii Summary......................................................................................................................vi List of Tables .............................................................................................................viii List of Figures..............................................................................................................ix List of Symbols ............................................................................................................xi Chapter 1 Introduction............................................................................1 1.1 Phylogeny of Dengue Virus ...................................................................2 1.2 Epidemiology .........................................................................................3 1.2.1 Epidemiology of Flaviviruses.....................................................3 1.2.2 Epidemiology of Dengue Virus..................................................4 1.3 Clinical Manifestations...........................................................................6 1.3.1 Dengue Fever (DF).....................................................................6 1.3.2 Dengue Hemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS).....................................................................................7 1.4 Pathogenesis of Severe Dengue .............................................................8 1.5 Dengue Virus Life Cycle .....................................................................10 1.5.1 Structure of Dengue Virions........................................................10 1.5.2 Viral Entry and Fusion ................................................................10 1.5.3 Viral Replication, Assembly and Release ...................................11 1.6 DENV Structural and Non-structural Proteins ....................................14 1.6.1 Capsid..........................................................................................14 1.6.2 Pre-membrane .............................................................................15 1.6.3 Envelope......................................................................................15 1.6.4 NS1..............................................................................................16 1.6.5 NS2A ...........................................................................................16 1.6.6 NS2B ...........................................................................................17 1.6.7 NS3..............................................................................................17 1.6.7.1 NS3 Protease ................................................................18 iii   Table of Contents   1.6.8 NS4A and NS4B .........................................................................19 1.6.9 NS5..............................................................................................20 1.7 Control of Dengue ................................................................................21 1.7.1 Treatment of Dengue ................................................................21 1.7.2 Vector Control ..........................................................................21 1.7.3 Vaccines ...................................................................................22 1.7.4 Antiviral Therapy .....................................................................23 1.8 Aims of the Thesis................................................................................25 Chapter 2 Materials and Methods........................................................26 2.1 Materials...............................................................................................27 2.1.1 Cloning Primers........................................................................27 2.1.2 DNA Sequencing Primers ........................................................28 2.1.3 Antibodies.................................................................................29 2.2 Methods ................................................................................................30 2.2.1 Generating DENV-3 Protease Mutants ...................................30 2.2.2 Expression and Purification of DENV-3 Protease Mutants .....30 2.2.3 Dengue NS3 Protease Activity Assay ......................................33 2.2.4 Construction of Genome-length DENV-2 Mutant cDNA........33 2.2.5 In Vitro Transcription of Genome-length DENV-2 Infectious Clone.........................................................................................37 2.2.6 Culturing and Passaging of BHK21 Cells ................................37 2.2.7 RNA Transfection and Immunofluorescence Assay (IFA) ......38 Chapter 3 Results ...................................................................................39 3.1 The Allosteric Pocket in the Dengue Protease .....................................40 3.1.1 Generating DENV-3 NS2B-NS3 Mutants................................40 3.1.2 Expression and Purification of DENV-3 NS2B-NS3 Recombinant Protein ................................................................46 3.1.3 Assessing the Enzymatic Activity of DENV-3 NS2B-NS3 Protease Mutants.......................................................................49 3.1.4 Additional Mutagenesis Studies with Selected Residues .........53 iv   Table of Contents   3.1.5 Assessing Viral Replication of Selected Mutants In Vitro.......57 Chapter 4 Discussion ...........................................................................................65 4.1 Alanine Mutagenesis Studies ...............................................................67 4.2 Additional Mutagenesis Studies...........................................................69 4.2.1 M084.........................................................................................69 4.2.2 T118..........................................................................................71 4.2.3 N152 .........................................................................................72 4.2.4 I165...........................................................................................73 4.3 Viral Replication In Vitro.....................................................................75 4.4 Impact of Findings on Drug Discovery................................................77 4.5 Conclusion and Outlook.......................................................................78 Bibliography ...............................................................................................................79 Appendix .....................................................................................................................90 v   Summary   SUMMARY Dengue is an emerging mosquito-borne viral infection with an estimated 2.5 billion people being at risk. The virus is found in tropical and subtropical areas around the globe and is transmitted by the main vector Aedes aegypti. According to WHO there are an estimated 50-100 million infections every year worldwide with an estimated 500,000 cases being hospitalized annually. Currently there is no treatment available, thus there is an urgent need for discovering new drugs. The dengue NS3 serine protease is a promising target for new drugs since it is involved in viral polyprotein processing together with NS2B and thus important for viral replication. Crystal structures of NS2B-NS3pro bound to a peptide inhibitor recently revealed a pocket located at the opposite side of the protein from the active site. Residues from both NS2B and NS3 are lining the pocket, which is larger than the active site. Conservation in West Nile virus structures suggests functional importance. Based on these findings this study aims to characterize the NS2B-NS3 protease with its large allosteric pocket in more depth. Mutagenesis studies of different residues lining the pocket should help to understand the functional role of the pocket as a whole, as well as the impact on function for single residues in viral replication. The findings could further be used in drug development to specifically target residues that are crucial for viral replication. Mutagenesis studies of selected residues to alanine resulted in impaired or abolished protease activity for most of the mutants. The five mutants V078, W089, T118, G124 and N152 were completely inactive. Mutants M084 and I165 were barely active vi   Summary   compared to WT. Only mutant Q167 showed slightly higher activity than WT. Furthermore protease activity could be restored for two selected mutants in additional conservative mutagenesis studies. The hydroxyl group in the threonine of position 118 seems to be the main factor affecting protease activity since introduction of a serine lead to restorage of activity by 60%. For mutant M084 the introduction of a phenylalanine restored activity in a similar range than mutant T118, suggesting that hydrophobicity to be a main factor influencing activity. In general in vitro studies on viral replication were able to confirm results obtained from protease activity assays. In particular, protease activity could surprisingly not be restored for mutants N152D and I165L, even though the introduced amino acids differ only slightly from the WT residue. This suggests that those two residues are especially important for protease function. Overall, the results obtained from this study helped to identify residues within the allosteric pocket that are crucial for protease activity and viral replication. The pocket is therefore an attractive target and could potentially be targeted for the design of antiviral compounds. vii   List of Tables   LIST OF TABLES Table 3.1 Mutated residues and codon usage in E. coli genes .............................44 Table 3.2 Mutant protease activities compared to WT.........................................50 Table 3.3 Kinetic parameters for DENV-3 NS2B-NS3 mutants and WT............52 Table 3.4 Mutated residues and codon usage in E. coli genes .............................53 Table 3.5 Mutant protease activities compared to WT.........................................54 Table 3.6 Kinetic parameters for DENV-3 NS2B-NS3 mutants and WT............57 Table 3.7 Mutated residues and codon usage in E. coli genes .............................58 viii   List of Figures   LIST OF FIGURES Figure 1.1 Flavivirus classification..........................................................................2 Figure 1.2 Distribution of dengue infection according to the World Health Organization in 2010 ..............................................................................4 Figure 1.3 WHO dengue classification scheme (1997) ...........................................6 Figure 1.4 Updated classification scheme for dengue according to WHO (2009) ..7 Figure 1.5 Schematic representation of Flavivirus life cycle ................................13 Figure 2.1 Vector pGEX6P1..................................................................................32 Figure 2.2 pACYC-NGC shutter B used to generate infectious clone ..................35 Figure 2.3 pACYC-NGC infectious clone.............................................................36 Figure 3.1 Structure of DENV-3 protease adopting the closed conformation.......41 Figure 3.2 NS3-NS2B construct used for mutagenesis .........................................44 Figure 3.3 Sequencing chromatogram ...................................................................45 Figure 3.4 Alignment of amino acid sequences for DENV 1-4 NS2B (A) and NS3pro (B) ...........................................................................................45 Figure 3.5 Overexpression of mutated NS3-NS2B protein attached to a GST tag ..............................................................................................................46 Figure 3.6 Typical chromatograms after GST trap (left) and GST removal (right) ..............................................................................................................47     Typical gel pictures of the different protein purification steps ............48 Figure 3.7   Figure 3.8 Schematic diagram of the principle of the AMC assay........................49     Figure 3.9 Substrate dilutions plotted against fluorescence signal and analysed by non-linear regression fitted by the Michaelis-Menten equation...........51 Figure 3.10 Activities of mutants compared to WT ................................................54 Figure 3.11 Activities of mutants compared to WT ................................................55   Figure 3.12 Substrate dilutions plotted against fluorescence signal and analysed by non-linear regression fitted by the Michaelis-Menten equation...........55 Figure 3.13 0.8% agarose gel to check for linearization (A) and RNA quality (B) ..............................................................................................................58   ix   List of Figures   Figure 3.14 Viral replication in vitro of DENV-2 wildtype infectious clone..........61 Figure 3.15 Viral replication in vitro of DENV-2 mutant T118S infectious clone ..............................................................................................................62 Figure 3.16 Viral replication in vitro of DENV-2 mutant T118A infectious clone ..............................................................................................................63 Figure 3.17 Viral replication in vitro of DENV-2 mutant I165A infectious clone ..............................................................................................................64 Figure 4.1 Chemical structure of methionine (left) and phenylalanine (right) including their molecular weight..........................................................70 Figure 4.2 Chemical structure of threonine (left) and serine (right) including their molecular weight ..................................................................................71 Figure 4.3 Chemical structure of asparagine (left) and aspartic acid (right) including their molecular weight..........................................................72 Figure 4.4 Chemical structure of isoleucine (left) and leucine (right) including their molecular weight..........................................................................74 x   List of Symbols   LIST OF SYMBOLS Aa Amino Acid ADE Antibody Dependent Enhancement AMC 7-Amino-4-Methylcoumarin Amp Ampicillin BHK Baby Hamster Kidney C Capsid cDNA Complementary DNA CHAPS 3-{(3-Cholamidopropyl)dimethyl-Ammonio}-1Propanesulfonate DAPI 4',6-Diamidino-2-Phenylindole DC Dendritic Cell DC-SIGN Dendritic-Cell-Specific ICAM-Grabbing Non-Integrin DENV Dengue Virus DHF Dengue Hemorrhagic Fever DMEM Dulbecco’s Modified Eagle Medium DMSO Dimethylsulfoxide dsRNA Double-Stranded RNA DSS Dengue Shock Syndrome E Envelope EDTA Ethylenediaminetetra Acetic Acid ER Endoplasmic Reticulum FBS Fetal Bovine Serum FBS Fragment Based Screening Gly-Arg-Arg-AMC Gly-­‐Arg-­‐Arg-­‐7-­‐Amino-­‐4-­‐Methylcoumarin   xi   List of Symbols   GRP-­‐78/BiP     Glucose-­‐Regulating  Protein  78 GST Glutathione-S-Transferase HCV Hepatitis C Virus HTS High Throughput Screening ICAM Intercellular Adhesion Molecule IFA Immunofluorescence Assay IPTG Isopropyl-β-D-Thiogalactopyranoside IVT In Vitro Transcription JEV Japanese Encephalitis Virus Kb Kilobase kDA Kilo Dalton LB Luria Bertani MW Molecular Weight NCR Non Coding Region NGC New Guinea C NITD Novartis Institute for Tropical Diseases NS Non Structural NS3hel NS3 Helicase NS3pro NS3 Protease O/N Overnight ORF Open Reading Frame PBS Phosphate Buffered Saline PBST PBS + 0.05% Tween PCR Polymerase Chain Reaction prM pre-membrane xii   List of Symbols   PS Penicillin Streptomycin p.t. Post Transfection RF Replicative Form RC Replication Complex RdRp RNA Dependent RNA Polymerase Rpm Rotations per Minute RT Room Temperature SDM Site Directed Mutagenesis SDS-PAGE Sodium Dodecyl Sulfate-polyacrylamide Gel Electrophoresis STAT Signal Transducer and Activator of Transcription TBEV Tick-borne Encephalitis Virus TGN Trans Golgi Network Tris Tris(hydroxymethyl)aminomethane UTR Untranslated Region WHO World Health Organization WNV West Nile Virus WT Wildtype YFV Yellow Fever Virus xiii   Chapter 1 Introduction   INTRODUCTION 1   Chapter 1 Introduction   Chapter 1 Introduction 1.1 Phylogeny of Dengue Virus Dengue virus (DENV) belongs to the family of Flaviviridae, which is a large family of viruses consisting of three genera; Flavivirus, Pestivirus and Hepacivirus. DENV is one of over 70 members of the genus Flavivirus causing severe disease and mortality in both humans and animals (Gubler et al., 2007). Flaviviruses are clustered into three different groups according to their mode of transmission, which can either be tickborne, mosquito-borne or unknown (Figure 1.1). DENV, yellow fever virus (YFV), Japanese encephalitis virus (JEV), tick-borne encephalitis virus (TBEV) and West Nile virus (WNV) are the most important pathogens amongst the flaviviruses that affect humans (Kuno et al., 1998; Mukhopadhyay et al., 2005). Figure 1.1 Flavivirus classification. The dendrogram shows the relationship of a selection of flavivirus members. Clades and clusters are based on molecular phylogenetics, whereas serological criteria are used to subdivide the viruses into antigenic complexes (Mukhopadhyay et al., 2005). 1.2 Epidemiology 2   Chapter 1 Introduction   1.2.1 Epidemiology of Flaviviruses Some of the most important emerging as well as resurging diseases worldwide can be allocated to the genus of the mosquito-borne flaviviruses (Mackenzie et al., 2004). Emerging diseases are diseases characterized by a rapid increase in incidence or geographic spread of newly introduced or previously existing diseases in a population (Morse, 1995). Genomic sequence analyses have been used to understand origin, evolution and spread of flaviviruses. It has been suggested that they have evolved from an ancestral virus in Africa within the past 10’000 years. It is thought that 3’000 years ago the tick-borne lineage evolved followed by the mosquito-borne lineage. YFV, from where the genus and the family got their names, is believed to have been carried from West Africa into the Americas during the slave trade in the 17th and 18th centuries. DENV on the other hand has spread globally in the 18th and 19th centuries with expanding shipping industry and trading. Additionally DENV transmission dynamics and epidemiology were shaped dramatically during and following World War II in South East Asia resulting in geographical spread of the disease and the vector. The factors contributing to emergence and resurgence of mosquito-borne viruses are complex and not well understood. However human activities like urbanization, transportation or changes in land use have clearly accounted strongly for global spread of mosquito-borne flaviviruses (Gubler, 2002; Mackenzie et al., 2004). 3   Chapter 1 Introduction   1.2.2 Epidemiology of Dengue Virus According to the World Health Organization (WHO) over 40% of the world’s population, or 2.5 billion people, live in areas of transmission and hence are at risk of getting dengue. Only nine countries were known to have severe dengue epidemics before 1970 and dengue is now endemic in more than 100 countries across the globe. The disease is present in many parts of the tropics and subtropics in Africa, the Americas, South-East Asia, the Western Pacific as well as the Eastern Mediterranean. An estimated 50-100 million dengue infections occur worldwide annually with 500’000 severe cases every year being hospitalized and 2.5% deaths of those affected (Mackenzie et al., 2004). Figure 1.2. Distribution of dengue infection according to the World Health Organization in 2010. Highlighted in orange are the areas and countries where dengue has been reported. The January and July isotherms illustrate the areas at risk. 4   Chapter 1 Introduction   DENV circulates as four serotypes (DENV 1-4) and is mainly transmitted by mosquitoes Aedes aegypti and Aedes albopictus. It accounts for the highest disease and mortality rates amongst flaviviruses (Gubler, 1998). The four serotypes are closely related and share around 65% identity in their genome, which makes diagnosis difficult since they cross-react extensively in serological tests (Guzman et al., 2010). Although they are closely related, infection with one serotype only provides lifelong immunity for that specific serotype, but does not provide cross-protective immunity against another serotype (Mackenzie et al., 2004). In contrast, subsequent infection with another serotype has been reported to be a risk factor for developing Dengue hemorrhagic fever (DHF) or Dengue shock syndrome (DSS) (Halstead, 1988). 5   Chapter 1 Introduction   1.3 Clinical Manifestations A mosquito bite infected with DENV can lead to a wide range of clinical manifestations after an incubation period of 3-14 days (average 4-7 days). Infection can be asymptomatic or cause mild febrile illness, classical dengue fever, severe or sometimes even fatal hemorrhagic disease (World Health Organization Geneva 1997; Figure 1.3). Figure 1.3. WHO dengue classification scheme (1997). 1.3.1 Dengue Fever (DF) Classical DF affects mainly older children and adults, resulting in a flu-like febrile illness accompanied by two or more manifestations like fever, frontal headache, body aches, joint pains, weakness, nausea and vomiting. DF is self-limiting and rarely fatal. Fever usually lasts 2 to 7 days and the virus is cleared from the blood in an average of 5 days (Gubler, 1998; Rigau-Perez et al., 1998; WHO Geneva, 1997). 6   Chapter 1 Introduction   1.3.2 Dengue Hemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS) A small portion of DENV infections results in a more severe form of the disease called DHF and DSS. DHF is defined as meeting all of the following four criteria (WHO guidelines, 1997): fever or history of fever lasting 2-7 days, hemorrhagic tendency, low platelet count and plasma leakage. Distinguishing DHF from DF and other diseases found in tropical areas is difficult especially in the acute phase of illness and can also have an impact on treatment and hence on the fatality of the infection. Although DHF/ DSS is observed in all age groups, children are mainly affected. DSS refers to DHF where shock is present. DSS can be further classified into different severity grades of moderate or profound shock where pulse pressure is narrowed or not detectable respectively (Gubler, 1998; WHO Geneva, 1997). Since distinction between DF and DHF/DSS is difficult and crucial for disease outcome regarding treatment, the WHO classification scheme has recently been updated. Disease is classified into dengue with or without warning signs and severe disease. Warning signs include abdominal pain, mucosal bleed, persistent vomiting, clinical fluid accumulation, lethargy, restlessness, liver enlargement, increase in haematocrit and decrease in platelet count (WHO, 2009). Figure 1.4. Updated classification scheme for dengue according to WHO (2009). 7   Chapter 1 Introduction   1.4 Pathogenesis of Severe Dengue A variety of factors contributing to disease severity have been identified (Lei et al., 2001). A number of studies have suggested prior encounter of dengue to be one of the most important risk factors for developing severe dengue (Dejnirattisai et al., 2010; Halstead, 1988; Gubler, 1998; Rothman, 2003). Antibody-dependant enhancement (ADE) has been proposed to play a key role in developing severe dengue. This was based on the fact that children who display severe manifestations of DHF/ DSS have already encountered a primary infection with a different serotype. In vitro studies have shown that preexisting antibodies to a previously exposed DENV serotype are not able to neutralize the new DENV serotype. In contrast they are able to enhance infection. Although epidemiological studies were able to confirm the association of secondary infection with disease severity, the underlying molecular mechanisms are still poorly understood. One hypothesized mechanism behind ADE is enhanced virus uptake into Fc-bearing cells, like monocytes or macrophages, promoted by opsonization through cross-reacting antibodies (Dejnirattisai et al., 2010; Halstead, 1988; Kliks et al., 1989; Lei et al., 2001). In addition ADE has been shown to promote viral replication accompanied by upregulation of cytokines associated with DHF/ DSS resulting in a TH2-type response (Chareonsirisuthigul et al., 2007; Yang et al., 2001). An alternative hypothesis for pathogenesis of DHF/ DSS is the degree of virulence of different variants of DENV. The ability of viral replication in the host might contribute to the clinical outcome, since high viremia titer was associated with disease 8   Chapter 1 Introduction   severity. In addition it has been reported that the risk of DHF/ DSS is higher in secondary infections with DENV-2 compared to other serotypes (Rico-Hesse et al., 1997; Rico-Hesse et al., 1998). Lei et al. suggested a new hypothesis of DENV immunopathogenesis in which both ADE and virus virulence can be explained. Dengue infection causes extensive immune activation leading to overproduction of cytokines as well as inability of the immune system to clear the virus that results in increased viral replication. Viral load becomes the key aspect linking both ADE and virus virulence (Lei et al., 2001). Although cross-reacting antibodies and virus virulence seem to play a key role in modulating the immune response and shaping disease outcome other factors most likely contribute to disease outcome as well. Additional risk factors that have been linked to severe disease include race, age, sex and host genetic factors (Martina et al., 2009). 9   Chapter 1 Introduction   1.5 Dengue Virus Life Cycle 1.5.1 Structure of Dengue Virions Dengue virions are approximately 500 Å in diameter and contain a single positivestrand RNA genome. The genome of around 10.8 kB is packaged by virus capsid protein and surrounded by a host-derived lipid bilayer. The virion surface incorporates two viral proteins, E (envelope) and M (membrane). The E glycoprotein mediates binding and fusion during virus entry, whereas the M glycoprotein is the remaining proteolytic fragment of precursor prM protein and produced during maturation (Figure 1.5 (a)). The RNA genome has an open reading frame that encodes a single polyprotein comprised of three structural and seven non-structural proteins (Figure 1.5 (b)). The structural proteins – capsid, membrane and envelope – play an important role in viral assembly and viral maturation, whereas the non-structural proteins – NS1, NS2A, NS2B, NS3, NS4A, NS4B and NS5 – are essential for viral replication (Kuhn et al., 2002; Lindenbach et al., 2007; Mukhopadhyay et al., 2005). 1.5.2 Viral Entry and Fusion DENV particles enter the cell via receptor-mediated endocytosis, triggered by hostcell receptor and viral glycoprotein interactions (Figure 1.5 (1c)). In vitro studies have shown that DENV is able to infect a number of different human cells including dendritic cells, monocytes/ macrophages, B cells, T cells, endothelial cells, hepatocytes and neuronal cells. In vivo studies suggested that the main target cells of 10   Chapter 1 Introduction   DENV are cells of the mononuclear phagocyte lineage (monocytes, macrophages and DCs) (Clyde et al., 2006). Host-cell receptors interacting upon virus particle attachment include DC-SIGN (Navarro-Sanchez et al., 2003), GRP78/BiP (Jindadamrongwech et al., 2004) and CD14-associated molecules (Chen et al., 1999). Membrane fusion is mediated by the viral surface E protein and takes place in the endosome (Figure 1.5 (2c)). The E protein undergoes conformational changes to form trimers triggered by the acidic environment within the endosome that leads to fusion of the viral and the cell membrane (Figure 1.5 (3c)). The nucleocapsid is then released into the cytoplasm and replication of the RNA genome is initiated after dissociation of the capsid protein and the viral RNA (Mukhopadhyay et al., 2005; Figure 1.5 (4c, 5c)). 1.5.3 Viral Replication, Assembly and Release Upon release into the cytoplasm the positive-sense viral RNA is translated into a single polyprotein that is further cleaved co- and post-translationally by host and viral proteases into 10 proteins (Lindenbach and Rice, 2003). Virus assembly occurs on the surface of the endoplasmic reticulum (ER) (Figure 1.5 (6c)). Immature, non-infectious viral particles, that cannot induce host-cell fusion, are formed in the lumen of the ER and later released into the trans-Golgi network (TGN). Cleavage of the prM protein (Figure 1.5 (7c)), mediated by the host-cell protease furin in the TGN, creates mature and infectious particles that are later released at the cell surface via exocytosis (Mukhopadhyay et al., 2005). 11   Chapter 1 Introduction   It is thought that the genomic RNA forms a replication complex (RC) together with NS proteins and host proteins on cytoplasmic membranes (Lindenbach and Rice, 2003; Westaway et al., 2003). Replication starts at the 3’ end and results in an intermediate double-stranded negative-sense RNA, called the replicative form (RF). The dsRNA RF is then converted into a replicative intermediate complex (RI) that serves as a template in order to synthesize more positive-strand genomic RNA (Khromykh and Westaway, 1997). NS5, containing the RNA dependent RNA polymerase (RdRp), is essential for the production of RFs (Ackermann and Padmanabhan, 2001; Tan et al., 1996), whereas conversion of RF to RI involves interaction of both NS5 and NS3 (Bartholomeusz and Wright, 1993; Kapoor et al., 1995; Raviprakash et al., 1998). Other studies have shown colocalization of RCs with NS1, NS2A, NS2B and NS4A, suggesting a functional role in viral replication (Chu et al., 1992; Mackenzie et al., 1996; Mackenzie et al., 1998). 12   Chapter 1 Introduction   Figure 1.5. Schematic representation of Flavivirus life cycle. (a) Schematic representation of the virus particle. Immature virions contain prM and E as membrane-associated proteins. Upon maturation the prM protein is cleaved and the M protein stays attached to the surface. (b) Schematic representation of the genome organization. The positive-stranded RNA genome of approximately 11 kB comprises an ORF encoding three structural and seven non-structural proteins. The ORF is flanked by NCRs at both ends. (c) The virus life cycle can be divided into seven parts: (1) Attachment of the virus particle to the host cell membrane (2) Viral entry via receptor-mediated endocytosis (3) Fusion of viral and host cell membrane (4) Uncoating and release of viral RNA into cytoplasm (5) Translation and replication of viral genome (6) Assembly of viral particles (7) Exocytosis and release of mature virions. Adapted from Stiasny and Heinz, 2006. 13   Chapter 1 Introduction   1.6 DENV Structural and Non-structural Proteins DENV is an enveloped virus containing a single-stranded positive-sense RNA genome of approximately 11 Kb in length. The genome encodes three structural proteins (pre-membrane, envelope and capsid) forming the viral particle and seven non-structural proteins (NS1, NS2A, NS2B, NS3, NS4A, NS4B and NS5) required for viral replication, virion assembly and invasion (Kummerer and Rice, 2002; Liu et al., 2003; Rice et al., 1985). 1.6.1 Capsid The capsid (C) protein is highly basic, approximately 11 kDa in size, and contains charged residues at its N- and C- termini. An internal short hydrophobic domain mediates membrane association (Boege et al., 1983; Khromykh and Westaway, 1997; Rice et al., 1985; Trent, 1977). Dimerization of the C protein, triggered by viral RNA, is essential for viral assembly (Kiermayr et al., 2004; Kummerer and Rice, 2002; Lopez et al., 2009; Ma et al., 2004). Although the C protein sequence homology within Flavivirus is low, the hydrophobic and hydrophilic regions are conserved (Chambers et al., 1990; Markoff et al., 1997). 14   Chapter 1 Introduction   1.6.2 Pre-membrane The Pre-membrane (prM) protein is a precursor protein (~ 34 kDa) of the membrane (M) protein (~ 26 kDa) and is cleaved by the host protease furin in the TGN. Cleavage mediates maturation and is important for release of viral particles (Elshuber et al., 2003). In addition prM is essential for proper folding and secretion of the envelope protein. Its association with prM protein prevents it from undergoing conformational changes that normally trigger fusogenic activity (Guirakhoo et al., 1991; Guirakhoo et al., 1992). After cleavage of prM, pr gets secreted, whereas the M protein stays attached to the mature virion. More recent studies have shown that recombinant E-prM complexes are immunogenic and protective in vaccines against several flaviviruses like JEV (Mason et al., 1991), YFV (Pincus et al., 1992), DENV (Fonseca et al., 1994) and TBEV (Heinz et al., 1995). 1.6.3 Envelope The E protein (~ 53 kDa) is the major structural protein exposed at the surface of the virion. It plays a role in a number of processes including receptor binding, membrane fusion, virion assembly and is the major target for neutralizing antibodies (Chambers et al., 1990; Heinz, 1986). The E protein contains 12 cysteine residues, which form intramolecular disulfide bonds and are highly conserved within Flavivirus (Chambers et al., 1990; Mandl et al., 1989). In immature virions E is linked to prM and forms 15   Chapter 1 Introduction   heterodimers that protect it from premature acidification while they are transported through the TGN (Guirakhoo et al., 1993; Konishi and Mason, 1993; Perera and Kuhn, 2008). 1.6.4 NS1 NS1 (~ 46 kDa) is a highly conserved glycoprotein that is exported via the secretory pathway to the membrane, where it is either anchored or released as a soluble protein (Mackenzie et al., 1996; Mason, 1989; Schlesinger et al., 1990; Westaway et al., 1997). NS1 contains 12 conserved cysteine residues, invariant glycosylation sites and some other regions of high sequence homology. In recent studies NS1 has been shown to associate with double-stranded RF suggesting a role in viral replication (Mackenzie et al., 1996; Westaway et al., 1997). In addition association with immature E protein in the ER most likely indicates a role in virion assembly and maturation (Winkler et al., 1988). 1.6.5 NS2A NS2A (~ 22 kDa) is one of four (NS2A, NS2B, NS4A, NS4B) small, hydrophobic proteins of the polyprotein. The hydrophobic regions are conserved in position but not sequence, suggesting membrane-association of these proteins (Chambers et al., 1990; Rice et al., 1986). The function has yet to be discovered. NS2A has been shown to 16   Chapter 1 Introduction   bind to NS3 and NS5 and localize to the RC, suggesting an involvement in viral replication (Mackenzie et al., 1998). 1.6.6 NS2B NS2B is a small (~ 14 kDa) mebrane-associated protein, which is involved in polyprotein processing together with NS3. The conserved, hydrophilic region, spanning residues 49-95, is flanked by two hydrophobic domains. The hydrophobic domains enable membrane-association, whereas the hydrophilic portion interacts with NS3. Recent studies have shown, that the conserved 40 residue long hydrophilic portion is crucial for NS3 serine-protease activity. Disruption of NS2B-NS3 interaction can abolish NS3 protease activity (Arias et al., 1993; Chambers et al., 1991; Chambers et al., 1993; Falgout et al., 1991; Falgout et al., 1993; Leung et al., 2001; Li et al., 1999; Li et al., 2005; Yusof et al., 2000). 1.6.7 NS3 NS3 (~ 68 kDa) is the second largest protein of the DENV genome and contains multiple functions crucial for viral propagation. Protease, helicase, NTPase as well as 5’-terminal RNA triphosphatase activities are key features involved in viral polyprotein processing, genome replication and virus particle assembly (Chambers et al., 1990; Lindenbach et al., 2007). The RNA helicase is required for unwinding dsRNA during viral replication, whereas the NTPase is necessary to provide the energy for unwinding. The RTPase on the other hand is involved in capping of viral RNA. The NS3 protease is crucial for cleavage of the polyprotein together with NS2B 17   Chapter 1 Introduction   (Benarroch et al., 2004; Borowski et al., 2001; Chambers et al., 1993; Lescar et al., 2008; Patkar and Kuhn, 2008; Wengler et al., 1991). 1.6.7.1 NS3 Protease The first 180 aa at the N-terminal region of NS3 encode for the DENV NS3pro and are highly conserved among flaviviruses (Valle and Falgout, 1998). NS3pro itself is not active and also not stable unless it is bound to NS2B, which is required for catalytic activity (Li et al., 2005). A construct containing residues 49-95 of NS2B linked to residues 1-169 of NS3 via a Gly4-Ser-Gly4 linker has been described for WNV and DENV 1-4 in order to express soluble and active protease (Leung et al., 2001; Li et al., 2005). A number of studies to characterize the NS2B-NS3 protease as well as to screen new potent protease inhibitors have been conducted based on this construct (Noble et al., 2011; Salaemae et al., 2010; Yin et al., 2006a,b). A recent study in addition has revealed the ligand-bound crystal structure of the NS2B-NS3 protease closed conformation. When NS2B wraps around NS3 a cavity larger than the active site is formed on its opposite side. Residues of both NS2B and NS3 are lining this newly identified pocket, which could be a potential new drug target (Noble et al., 2011). The DENV protease is a trypsin-like serine protease containing a His-Asp-Ser catalytic triad (H51, D75 and S135) that is essential for protease activity since mutations in those residues abolish enzymatic activity (Bazan and Fletterick, 1989; Speight et al., 1988). Trypsin-like serine proteases are able to cleave peptide bonds following a positive charged amino acid like arginine and lysine. The hydroxyl-group 18   Chapter 1 Introduction   of the serine (Ser) acts as a nucleophile, attacking the carbon of the substrate’s carbonyl-group. Histidine (His) firstly acts as a base and assists in forming a tetrahedral intermediate, which is stabilized by the hydrogen bond to aspartic acid (Asp). The now positively charged His then acts as a general acid leading to the formation of an acylenzyme intermediate. This is later attacked by water yielding a second tetrahedral intermediate and finally leading to cleavage of the peptide bond (Hedstrom, 2002). NS2B-NS3 protease mediates cleavage of the polyprotein between NS2A/ NS2B, NS2B/ NS3, NS3/ NS4A, NS4A/ NS4B and NS4B/ NS5. In addition it is also responsible for cleavage within C, NS2A and NS3 (Lindenbach et al., 2007). 1.6.8 NS4A and NS4B NS4A (~ 16 kDa) and NS4B (~ 27 kDa) are two small, hydrophobic proteins with yet unknown functions (Lindenbach et al., 2007). The C-terminus of NS4A acts as a signal sequence for NS4B to translocate to the ER lumen (Lin et al., 1993; Preugschat et al., 1991). In addition NS4A colocalizes with the RF, suggesting a functional role in viral replication (Mackenzie et al., 1998). Colocalization of the transmembrane protein NS4B with NS3 and viral dsRNA in cytoplasmic ER-derived membrane structures suggests a role in viral replication (Miller et al., 2006). In addition NS4B is able to dissociate NS3 from ssRNA (Umareddy et al., 2006). NS4B has also been shown to interfere with interferon by 19   Chapter 1 Introduction   blocking STAT1 and STAT2 activation (Jones et al., 2005; Munoz-Jordan et al., 2003). 1.6.9 NS5 NS5 is the largest (~ 104 kDa) protein and is also highly conserved. NS5 contains a Sadenosylmethionine dependent methyltransferase (MTase) at its N-terminus, which is involved in 5’ capping of the viral genome (Dong et al., 2008; Koonin and Dolja, 1993). The C-terminus encodes for a RNA dependent RNA polymerase (RdRp), which is essential for viral replication (Rawlinson et al., 2006; Tan et al., 1996). In addition NS5 harbours two nuclear localization signals at residues 320 to 405, which are likely to play an important role in transportation of NS5 into the nucleus (Brooks et al., 2002; Forwood et al., 1999; Johansson et al., 2001). 20   Chapter 1 Introduction   1.7 Control of Dengue 1.7.1 Treatment of Dengue Although primary DENV infections do not need treatment in most cases, a lot of patients have to be hospitalized in hyperendemic countries, which is associated with a high financial burden. And yet there is no treatment or vaccine available to control dengue. Currently the only way to tackle dengue is to prevent transmission by controlling its vector, Aedes aegypti (Mackenzie et al., 2004). Current treatment for DF and DHF/ DSS are non-specific and basically treat the symptoms. Patients with DF require rest, oral fluids to prevent dehydration and antipyretics for high fever. Acetaminophens but not salicylates are recommended to reduce risk of bleeding complications. DHF treatment involves a combination of immediate diagnosis, monitoring hemorrhagic complications and supportive care (Rigau-Perez et al., 1998). 1.7.2 Vector Control Given the fact that there is no treatment for dengue, vector control is the only means to prevent DF and DHF/ DSS. The most effective way to control mosquito populations is to reduce larval habitats by removing or cleaning water-holding containers where mosquitoes can breed. Successful eradication programs have been implemented in the American region in the 1950’s and 1960’s. Unfortunately the program was disbanded after reduced disease burden and has lead to re-infestation of 21   Chapter 1 Introduction   the mosquito vector. Increased awareness of dengue as a public health issue, together with implementation of sustainable vector control strategies are therefore likely to have a huge impact on dengue transmission (Mackenzie et al., 2004; Gubler, 1998). 1.7.3 Vaccines The fact that infection with one serotype of DENV confers life-long immunity against that serotype indicates the potential for developing a vaccine against DENV. In addition vaccines for closely related flaviviruses like YFV, JEV and TBEV have been marketed already. However, to date there are no vaccines against dengue on the market, although vaccine development was initiated as early as the 1940’s (Coller et al., 2011). According to the Pediatric Dengue Vaccine Initiative, a promising vaccine candidate might be marketed as early as 2015. The occurrence of four different serotypes represents a huge challenge in developing vaccines. Especially challenging, with regards to the ADE hypothesis, is the concern of immune enhancement triggered by vaccination leading to more severe disease upon a secondary encounter of the pathogen. The lack of an adequate animal model makes it additionally complex to test vaccine candidates (Bente and Rico-Hesse, 2006). Nevertheless a promising vaccine candidate is currently undergoing phase III clinical studies. This live attenuated tetravalent vaccine is based on the YFV vaccine strain with additional substitutions of dengue virus membrane and envelope protein genes (Guirakhoo et al., 2006; Whitehorn and Farrar, 2010). 22   Chapter 1 Introduction   1.7.4 Antiviral Therapy Approximately 40% of the world’s population is at risk of getting dengue. It is therefore essential to develop therapeutics that inhibit DENV, since there are no antivirals available on the market. However development of drugs against dengue are complicated. Drugs need to be safe, inexpensive and effective. High survival rates and often mild disease outcomes are factors that counteract attempts to develop treatments. Another issue hindering the development of new treatments is the lack of appropriate animal disease models (Bente and Rico-Hesse, 2006). Replication in animals other than humans and mosquitoes is impaired and the clinical pathology of the disease is often not reflected (Julander et al., 2011). Research on dengue virus biology has revealed a variety of viral and host proteins that could potentially be targeted by antiviral therapeutics. Whereas host factors are difficult to target, due to potential toxicity and side effects, a few viral proteins are promising. Both structural as well as non-structural proteins of the DENV polyprotein present interesting targets. A drug targeting the viral E protein, involved in viral-hostmembrane fusion, could inhibit viral entry (Heinz et al., 2012). Therapeutic antibodies could be used to attack structural proteins that are found on the surface, however ADE of dengue infection has to be avoided (Rajamanonmani et al., 2009). NS3 and NS5 on the other hand are involved in viral replication and could therefore be targeted to reduce viremia in patients (Lescar et al., 2008; Noble et al., 2011). In addition, a lot of 23   Chapter 1 Introduction   these proteins are highly conserved among flaviviruses inferring potential application for other viruses. 24   Chapter 1 Introduction   1.8 Aims of the Thesis The emergence and resurgence of dengue in tropical and subtropical areas together with the lack of available antiviral therapeutics or vaccines urges the need to develop new treatment methods. Understanding the basic molecular mechanisms that underlie viral replication are essential in finding new drug targets as well as obtaining information for rational drug design. The work in this study focuses on the viral NS3-NS2B protease that has progressively gained attention as a potential antiviral target. The crystal structure of NS3-NS2B protease, involved in polyprotein processing and crucial for viral replication, has recently been solved. Crystal structures have revealed an allosteric pocket lined by residues of both NS2B and NS3. The goal of this study is to assess the functional importance of this pocket by mutating selected residues lining the pocket. Enzymatic activities of the recombinant mutant protein will be measured and a selection of mutants will be used to study viral replication in vitro. Together these studies should help characterize the allosteric pocket and its potential role in viral replication and whether it can be targeted by rational drug design. 25   Chapter 2 Materials and Methods   MATERIALS AND METHODS 26   Chapter 2 Materials and Methods   Chapter 2 Material and Methods 2.1 Materials 2.1.1 Cloning Primers Primer Name DNA Sequence (5’-3’) D3NS2B_V078A_FOR D3NS2B_V078A_REV CACAACTTAATGATCACAGCTGATGATGATGGAAC GTTCCATCATCATCAGCTGTGATCATTAAGTTGTG D3NS2B_M084A_FOR CACAGTTGATGATGATGGAACAGCGAGAATAAAAG ATGATG CATCATCTTTTATTCTCGCTGTTCCATCATCATCA ACTGTG D3NS2B_M084A_REV D3NS3_W089A_FOR D3NS3_W089A_REV GGAGACTGAGCGCACAAGCGCAGAAGGGGGAG GAGGTG CACCTCCTCCCCCTTCTGCGCTTGTGCGCTCAGTCTCC D3NS3_T118A_FOR D3NS3_T118A_REV CAGGCACTTTTCAGGCTACCACAGGGGAAATAG CTATTTCCCCTGTGGTAGCCTGAAAAGTGCCTG D3NS3_G124A_FOR D3NS3_G124A_REV CTACCACAGGGGAAATAGCAGCAATTGCACTGG CCAGTGCAATTGCTGCTATTTCCCCTGTGGTAG D3NS3_N152A_FOR D3NS3_N152A_REV GTAGTGGGACTGTATGGCGCTGGAGTGGTTACAAAG CTTTGTAACCACTCCAGCGCCATACAGTCCCACTAC D3NS3_I165A_FOR D3NS3_I165A_REV GGCTATGTCAGCGGAGCAGCGCAAACAAATGCAG CTGCATTTGTTTGCGCTGCTCCGCTGACATAGCC D3NS3_Q167A_FOR D3NS3_Q167A_REV GTCAGCGGAATAGCGGCAACAAATGCAGAACCAG CTGGTTCTGCATTTGTTGCCGCTATTCCGCTGAC D3NS2B_M084F_FOR CACAGTTGATGATGATGGAACATTCAGAATAAAAG ATGATG CATCATCTTTTATTCTGAATGTTCCATCATCATCA ACTGTG D3NS2B_M084F_REV D3NS3_T118S_FOR D3NS3_T118S_REV CAGGCACTTTTCAGTCTACCACAGGGGAAATAG CTATTTCCCCTGTGGTAGACTGAAAAGTGCCTG 27   Chapter 2 Materials and Methods   D3NS3_N152D_FOR D3NS3_N152D_REV GTAGTGGGACTGTATGGCGATGGAGTGGTTACAAAG CTTTGTAACCACTCCATCGCCATACAGTCCCACTAC D3NS3_I165L_FOR D3NS3_I165L_REV GGCTATGTCAGCGGACTAGCGCAAACAAATGCAG CTGCATTTGTTTGCGCTAGTCCGCTGACATAGCC D2NS3_T118A_FOR CCAAACAAAACCTGGTCTTTTCAAAGCAAACGCC GGAACC GGTTCCGGCGTTTGCTTTGAAAAGACCAGGTTTT GTTTGG D2NS3_T118A_REV D2NS3_T118S_FOR D2NS3_T118S_REV D2NS3_I165A_FOR D2NS3_I165A-REV CCAAACAAAACCTGGTCTTTTCAAAAGCAACGCC GGAACC GGTTCCGGCGTTGCTTTTGAAAAGACCAGGTTTT GTTTGG GCATATGTGAGTGCTGCAGCCCAGACTGAAAAAA GTATTG CAATACTTTTTTCAGTCTGGGCTGCAGCACTCAC ATATGC Mutated residues are highlighted in red 2.1.2 DNA Sequencing Primers Primer Name DNA sequence SEQ_D2NS3_FOR SEQ_D2NS3_REV CCATCATGGGCGGACGTTAAGAAAGACC GGTCCATGATGGTCAATTTTCTCTTTCG SEQ_D2-3’UTR_FOR GGGCAAAGAACATCCAAACAGC pGEX_FOR PGEX_REV GGGCTGGCAAGCCACGTTTGGTG CCGGGAGCTGCATGTGTCAGAGG T7 Promotor TAATACGACTCACTATAGGG 28   Chapter 2 Materials and Methods   2.1.3 Antibodies Primary Antibody Anti-NS3 Species rabbit Clonal polyclonal Company in house Anti-E 4G2 mouse monoclonal in house Secondary Antibody Goat anti-rabbit IgG, fluorescin conjugated Goat anti-mouse IgG, fluorescin conjugated Name TRTC Catalogue Nr. T6778 Company Sigma-Aldrich FITC F0257 Sigma 29   Chapter 2 Materials and Methods   2.2 Methods 2.2.1 Generating DENV-3 Protease Mutants Vector pGEX6P1 (GE Healthcare, Figure 2.1) containing the residues 49 to 96 of NS2B DENV serotype 3 (strain S221/03) connected to residues 1-182 of NS3 DENV3 by a G4SG4 linker was used to generate protease mutants (V078A, M084A, W089A, T118A, G124A, N152A, I165A, Q167A kindly provided by Lee, Le Tian; NITD as well as M084F, T118S, N152D, and I165L). Mutations were introduced using QuickChangeTM site-directed mutagenesis (SDM) with specific mutagenic primers. PCR conditions were as follows: 95°C for 30 sec; followed by 18 cycles of 95°C for 50 sec, 60°C for 50 sec and 68°C for 9 min; and finished with 68°C for 7 min) (detailed protocol in section appendix: PCR mix and cleaning up of PCR product). The PCR products were then transformed into XL1Blue competent cells (in house) and spread on LB agar plates containing 100 µg / ml ampicillin (detailed protocol of bacterial transformation in section appendix). Clones were isolated and purified using the QIAprep Spin Miniprep Kit to further be verified by DNA sequencing (AITbiotech, Singapore). 2.2.2 Expression and Purification of DENV-3 Protease Mutants Protease mutant constructs and the wildtype (WT) construct were transformed into chemically competent BL21 DE3 cells (in house), spread on Luria Bertani (LB) plates containing 100 µg / ml ampicillin and grown overnight (O/N) at 37°C. One individual 30   Chapter 2 Materials and Methods   colony per plate was picked and inoculated into 20 ml of LB broth containing 100 µg / ml ampicillin and incubated at 37°C O/N shaking at 220 rpm. 5 ml of the O/N culture was then inoculated into 500 ml LB broth containing ampicillin using a 2l flask. The cultures were grown at 37°C shaking at 220 rpm until the OD595 had reached 0.6-0.8 and then cooled down to 4°C for 10 min. Protein expression was then induced by adding 0.5 mM Isopropyl-β-D-thiogalactopyranoside (IPTG) and kept shaking at 160 rpm at 16°C O/N. The cultures were harvested by centrifugation at 6’000 rpm at 4°C for 10 min and the cell pellet was then resuspended in GST binding buffer (20 mM TRIS-HCl pH 7.5, 300 mM NaCl, 1 mM EDTA) before being lysed using a sonicator (50% intensity, 10 min, pulse 2 sec on and 5 sec off) (detailed protocol in section appendix: growing cells and expression of proteins, protein purification). The lysate was later centrifuged at 20’000 rpm for 1 hour at 4°C and the supernatant, containing the recombinant protein attached to a glutathione Stransferase (GST) tag at its N-terminus, loaded onto a GSTrapTM FF 5 ml column (GE Healthcare) for further purification with GST binding buffer and GST elution buffer (40mM TRIS-HCL pH 7.5, 300 mM NaCl, 1 mM EDTA and 2 mM gluthathione). Fractions were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) to select for cleavage using Prescission protease (GE Healthcare) incubating at 4°C O/N. After being purified through the GST column again, cleavage was confirmed by SDS-PAGE. In a last step the proteins were concentrated using a Vivaspin concentrator (Sartorius) and then loaded onto a HiLoadTM 26/60 SuperdexTM 200 column that was equilibrated with gel filtration buffer (20 mM TRIS-HCl pH 7.5, 300 mM NaCl). Samples were picked according to SDS-PAGE gel analysis and concentrated and quantified using a NanoDrop® Spectrophotometer ND-1000m by measuring the absorbance at 280 nm. 31   Chapter 2 Materials and Methods   Figure 2.1. Vector pGEX6P1. Schematic representation of vector containing the DENV-3 NS2B-NS3 protease construct as well as an ampicillin resistance cassette (AmpR) to select for mutants that successfully have taken up the plasmid. In addition the vector carries a LacI site to induce protein expression as well as a GST tag used for purification of the protein. 32   Chapter 2 Materials and Methods   2.2.3 Dengue NS3 Protease Activity Assay The enzymatic activity of the NS2B-NS3 recombinant protease mutants was assessed using a fluorogenic peptide substrate Gly-Arg-Arg-7-amino-4-methylcoumarin (GlyArg-Arg-AMC) and an automated fluorescence plate reader (Tecan). The assay principle is explained in chapter 3, section 3.1.3. The substrate was diluted in 50 mM TRIS-HCl, pH 8.5 + 20% (v/v) glycerol and the recombinant protease mutants were diluted in 50 mM TRIS-HCl, pH 8.5 + 20% (v/v) glycerol + 2.5 mM CHAPS. The enzyme assay was performed in a final volume of 20 µl per well of a Corning Costar black 96-well plate. Both substrate and enzymes were incubated at 37° C for 10 min prior to putting them together and measuring the fluorescence. Measurement was also done at 37° C at an excitation wavelength of 385 nM and an emission wavelength of 465 nM. Substrate concentrations were in the range of 30 µM to 750 µM whereas protease concentrations were in the range of 0.1 µM to 0.5 µM. Fluorescence values in rfu/min were plotted vs. substrate concentration and Michealis-Menten kinetics were obtained using Prism software by performing non-linear regression. Various dilutions and sets of measurement were conducted. Duplicates for each measurement were performed and average and standard deviations were calculated. 2.2.4 Construction of Genome-length DENV-2 Mutant cDNA pACYC-NGC SacII/XhoI (shutter B, kindly provided by Xie, Xuping; NITD) containing the structural proteins C, prM and E as well as the non-structural proteins NS1, NS2A, NS2B and NS3 of DENV-2 (Figure 2.2) was used to generate a new set 33   Chapter 2 Materials and Methods   of protease mutants using QuickChangeTM SDM and the respective primers as previously described. The PCR product was then transformed into XL1 Blue competent cells and positive clones were isolated and DNA sequencing was used to verify the mutations (AITbiotech, Singapore). The positive mutant constructs and the WT construct (DENV-2 infectious clone Figure 2.3; kindly provided by Xie, Xuping; NITD) were digested with Xho-1 and Nhe-1 for 3 h at 37°C (detailed protocol in section appendix: digestion mix). Samples were run on a 0.8% agarose gel and the respective bands excised and further purified using a QIAquick spin column (detailed protocol in section appendix: QIAquick gel extraction kit protocol). The vector and the individual mutants were then ligated O/N at 16°C using T4 DNA ligase to generate genome-length DENV-2 infectious clones (detailed protocol in section appendix: ligation mix). The ligation mixture was then transformed into Top10 competent cells (Invitrogen) and positive clones further analyzed by DNA sequencing. 34   Chapter 2 Materials and Methods   Figure 2.2. pACYC-NGC shutter B used to generate infectious clone. Vector containing the structural proteins C, prM and E as well as the non-structural proteins NS1, NS2A, NS2B and NS3. The restriction sites Xho I and Nhe I were used to cut out the part of interest in order to be introduced into the WT infectious clone. 35   Chapter 2 Materials and Methods   Figure 2.3 pACYC-NGC infectious clone. WT construct containing the whole genome of DENV-2 and the restriction sites Xho I and Nhe I to introduce the shutter containing the mutation in NS3. 36   Chapter 2 Materials and Methods   2.2.5 In Vitro Transcription of Genome-length DENV-2 Infectious Clone In order to be in vitro transcribed, the genome-length DENV-2 constructs were linearized using ClaI restriction enzyme incubated at 37°C for 2 h (detailed protocol in section appendix: linearization). Cleavage was then confirmed by running a 0.8% agarose gel and the linear plasmid further purified by ethanol precipitation. In vitro transcription was performed using the mMessage mMachine® Kit (Ambion) at 37°C for 2 h followed by a DNase I treatment for 15 min (detailed protocol in section appendix: in vitro transcription). The mixtures were then cleaned by phenolchloroform and precipitated using ethanol. 2.2.6 Culturing and Passaging of BHK21 Cells A vial containing frozen baby hamster kidney cells (BHK21-US) in Dimethylsulfoxide (DMSO, Sigma) and Fetal Bovine Serum (FBS, Thermo Scientific) was dissolved in 10 ml fresh Dulbecco’s Modified Eagle Medium (DMEM) containing 10% FBS, 1% Penicillin-Streptomycin (PS, Gibco) and 5% glutamine. The cells were incubated at 37°C and 5% CO2 in a culture flask. Cells were passaged as soon as they had reached at least 90% confluency. 37   Chapter 2 Materials and Methods   2.2.7 RNA Transfection and Immunofluorescence Assay (IFA) Cells were harvested and counted in order to get a suspension of 1 x 107/ ml BHK21US cells in PBS. Work using living virus was done in the virus room under Biosafety conditions 2. 800 µl of that cell suspension and 10 µg of the in vitro transcribed RNA were then transferred into a 0.4 cm gap sterile Gene Pulser Electroporation cuvette (Bio-Rad) and pulsed 3 times at 850 V and 25 µF (3 second intervals) using Gene Pulser XcellTM Electroporation System (Bio-Rad). After a recovery time of 10 min at RT the cells were resuspended in a final volume of 25 ml DMEM with 10% FCS and 5% glutamine. 500 µl, 250 µl, 150 µl and 100 µl (respectively for the different days post transfection) of the cell suspension were then seeded into 4-well plates with coverslips and incubated at 37°C. Samples were then fixed and stained on day 1, day 2, day 3 and day 4 p.t. and analyzed under the fluorescence microscope (Leica DM4000 B). 38   Chapter 3 Results     RESULTS 39   Chapter 3 Results   Chapter 3 Results 3.1 The Allosteric Pocket in the Dengue Protease 3.1.1 Generating DENV-3 NS2B-NS3 Mutants Correct polyprotein processing is crucial for viral replication and is mediated by a combination of host proteases and the viral NS2B-NS3 protease (Cahour et al., 1992; Falgout et al., 1991). In order to be fully active the NS3 protease, encoded by residues 1-182 of the N-terminal non-structural protein 3, requires NS2B for activity. In addition subsequent findings suggested that a 47 amino acid long hydrophilic portion of the non-structural protein 2B is sufficient for its activity (Erbel et al., 2006). Crystal structures have been reported recently for the DENV-3 protease-peptide complex that revealed a cavity larger than the active site. This pocket is formed when NS2B wraps around NS3 and is located at the opposite side of the protein from the active site (Chappell et al., 2008; Noble et al., 2011; Figure 3.1). 40   Chapter 3 Results   (A) (B) 41   Chapter 3 Results   (C) Figure 3.1. Structure of DENV-3 protease adopting the closed conformation. (A) Surface view of the DENV-3 protease shown in green and residues selected for mutagenesis highlighted in magenta. (B) Reverse view of A. (C) Structure of DENV3 protease in its closed conformation shown in cartoon representation. NS3 is coloured in green, whereas NS2B is shown in blue. Residues selected for mutagenesis are represented as sticks and highlighted in red for residues on NS2B and magenta for residues on NS3. The cartoons were generated using PyMOL software and the structure from the Protein Data Bank (PDB: 3U1I). 42   Chapter 3 Results   A construct containing residues 49 to 96 of DENV-3 NS2B linked by Gly4SerGly4 (G4SG4) to residues 1-182 of DENV-3 NS3 (Figure 3.2) was used to generate protease mutants in order to assess the importance of this newly identified pocket. Since the crystallized structure from the recent study was DENV-3, this serotype was also used in my study. A subset of residues that are lining the pocket formed by NS2B-NS3 were picked to introduce an amino acid change to alanine using SDM. Replacing the residues with an alanine removes the functional side chain of the original amino acid. Since alanine is the simplest amino acid, carrying only a non-reactive methyl group at the α-carbon, it is seldom directly involved in enzyme catalysis. Suggesting that, residues mutated to alanine, which show impaired or abolished enzymatic activity are of functional importance for the protease. The primers for SDM containing the mutation site were designed according to a codon usage table for E. coli. I tried to achieve a change of as few nucleotides as possible in the codon of interest itself as well as avoiding the use of very rare codons in order to reduce mismatches to make the PCR reaction simpler (Table 3.1). The mutant constructs were then analysed by sequencing. Figure 3.3 shows a typical sequencing result where mutagenesis could be confirmed. Figure 3.4 shows the sequence alignment for NS2B and NS3 for all four DENV serotypes. The residues selected for mutagenesis studies are highlighted with asterisk. Residues lining the newly identified pocket were picked based on conservation among the serotypes. They are highly conserved for the four serotypes. In addition, NS3 shows a high level of sequence conservation within the Flavivirus genus, implying functional importance of this region. NS2B on the other hand is less conserved among 43   Chapter 3 Results   flavivirus. However NS2B of different flaviviruses contain structural similarities like hydrophobic domains, with a potential to span membranes (Chambers et al., 1990). Figure 3.2 NS3-NS2B construct used for mutagenesis. Schematic representation of the NS3-NS2B construct used to generate mutants (adapted from Lescar et al., 2008). Codon usage frequency1 Residue NS2B-DENV-3 Codon switch Val078Ala GTT to GCT 1.8 Met084Ala ATG to GCG 3.2 NS3-DENV-3       Trp089Ala TGG to GCG 3.2 Thr118Ala ACT to GCT 1.8 Gly124Ala GGA to GCA 2.1 Asn152Ala AAT to GCT 1.8 Ile165Ala ATA to GCA 2.1 Gln167Ala CAA to GCA 2.1 1   average frequency this codon is used per 100 Codons Table 3.1. Mutated residues and codon usage in E. coli genes. 44   Chapter 3 Results   Figure 3.3. Sequencing chromatogram. Typical sequencing result with mutated nucleotides highlighted in yellow (Mutant Met084Phe). (A) (B) Figure 3.4. Alignment of amino acid sequences for DENV 1-4 NS2B (A) and NS3pro (B). Residues selected for mutagenesis studies are highlighted with asteriks. Yellow shading indicates 100% identity, whereas blue indicates conservative regions with green shading for amino acids with similar properties. 45   Chapter 3 Results   3.1.2 Expression and Purification of DENV-3 NS2B-NS3 Recombinant Protein Mutant constructs were transformed into competent E. coli cells, cultured and protein expression was induced by IPTG. Overexpression was confirmed by SDS-PAGE (Figure 3.5). Proteins were purified using a GST column in a three-step process. Figure 3.6 shows selected graphs and Figure 3.7 shows selected gels of the different purification steps. Figure 3.5. Overexpression of mutated NS3-NS2B protein attached to a GST tag. Overexpression of NS2B-NS3 protease mutants expressed in E. coli was confirmed by SDS-PAGE. The red arrow indicates the band referring to the overexpressed protein. . 46   Figure 3.6. Typical chromatograms after GST trap (left) and GST removal (right). The peak fractions were collected for SDS-PAGE to confirm fractions containing the protein of interest attached to the GST tag and cleavage of the GST tag respectively. Chapter 3 Results   47   Chapter 3 Results   (A) (B) (C) 48   Chapter 3 Results   Figure 3.7. Typical gel pictures of the different protein purification steps. SDSPAGE after GST trap (A), GST removal (B) and Gel filtration (C). Fractions containing the protein attached to GST are collected (Frac 8-12, A) and prescission protease is used to cleave the tag. The flow through (B) containing the cleaved protein is further purified and fractions collected (Frac B1-B6 & C1, C). 3.1.3 Assessing the Enzymatic Activity of DENV-3 NS2B-NS3 Protease Mutants In order to assess the enzymatic activity for the different protease mutants an assay was performed using a fluorogenic peptide substrate Gly-Arg-Arg-AMC. The peptide bound to the fluorophore (AMC) is preventing the fluorescence of AMC. Cleavage mediated by the protease releases AMC and a strong fluorescence signal can be measured (Yusof et al., 2000; Figure 3.8). Based on that principle the performance of the different NS2B-NS3 protease mutants can be assessed and compared. Figure 3.8. Schematic diagram of the principle of the AMC assay. Peptide bound to the AMC substrate is only weakly fluorescent. As soon as the protease cleaves to release AMC, the coumarin starts to strongly fluoresce and the signal can be measured. A variety of different enzyme as well as substrate concentrations were used to assess the protease activity. Enzyme concentrations were in the range of 0.1 to 0.5 µM, whereas substrate dilutions were performed in the range of 30 to 750 µM. Activities relative to WT are summarised in table 3.2. Mutant Q167A showed a slight increase 49   Chapter 3 Results   of activity compared to WT. Residual activity could be seen with mutants I165A (3% compared to WT) and M084A (11% compared to WT). In order to obtain kinetic parameters, substrate dilutions were performed and fluorescence signals were plotted against substrate concentrations. The graphs were then analyzed by non-linear regression using GraphPad Prism 5 software and fitted to the Michealis-Menten equation. Figure 3.9 shows two graphs obtained after analysis. Measurements were conducted in duplicates and average values and the corresponding standard deviations were plotted against substrate concentrations. Mutant Wildtype     NS2B-DENV-3   Val078Ala Met084Ala Activity in %         100%   Not active 11%   Mutant   NS3-DENV-3   Trp089Ala Thr118Ala Gly124Ala Asn152Ala Ile165Ala Gln167Ala   Activity in %       Not active Not active Not active Not active 3% 123%   Table 3.2. Mutant protease activities compared to WT. Mutants were compared at 0.25 µM enzyme concentration and at 150 µM substrate concentration. Measurements were done in duplicates and the mean value was normalized to the WT. 50   Chapter 3 Results   (A) (B) Figure 3.9. Substrate dilutions plotted against fluorescence signal and analysed by non-linear regression fitted by the Michaelis-Menten equation. A shows WT and B shows mutant T118A that showed no activity. Mean values were plotted and error bars reflect standard deviations obtained from duplicate measurements. Table 3.3 shows the different kinetic parameters that were obtained from the measurements of the enzymatic assay for the mutants and WT. Since the values have not been compared and adjusted to standard concentrations of AMC, they are quoted in arbitrary units of RFU. They still represent true kinetic values and can be used to compare the mutants. 51   Chapter 3 Results   As already shown in table 3.2 only three mutants showed activity. Mutants V087A, W089A, T118A, G124A, N152A showed no activity at all and values for vmax are extremely small and therefore calculations of kinetic parameters meaningless. Even with increasing enzyme and substrate concentrations enzymatic activity could not be rescued. The same is true for mutant I165A that showed only little activity (Table 3.2). The kcat and the kcat/KM as well as vmax are reduced for M084A, whereas the KM is increased. The kcat for Q167A as well as the kcat/KM are highly increased with an almost two-fold and three-fold increase respectively compared to WT. The KM on the other hand is reduced. The main difference between the active mutants lies in the Michaelis-Menten constant (KM), therefore suggesting that mutant M084A reduces the affinity and Q167A increases the affinity for the substrate. Mutant KM (µM) vmax (Rfu/min) kcat (Rfu µM min-1) kcat / KM Wildtype 215.2 ± 58.2 220.1 ± 25.2 880.4 ± 100.8 4.1 ± 1.7 – 526.8 ± 170.6 – 136.9 ± 31.2 – 547.6 ± 124.8 – 1.04 ± 0.73 – – – – – 110.9 ± 20.6 0.3 ± 0.1 0.3 ± 0.1 0.9 ± 0.4 0.8 ± 0.1 1 ± 0.7 331.3 ± 21.8 – – – – – 1325.2 ± 87.2 – – – – – 11.9 ± 4.2 NS2B-DENV-3 Val078Ala Met084Ala NS3-DENV-3 Trp089Ala Thr118Ala Gly124Ala Asn152Ala Ile165Ala Gln167Ala Table 3.3. Kinetic parameters for DENV-3 NS2B-NS3 mutants and WT. 52   Chapter 3 Results   3.1.4 Additional Mutagenesis Studies with Selected Residues From the previously picked residues four were chosen to conduct some additional mutagenesis studies. The mutations as well as the codons that were used in the primers are summarized in Table 3.4. Codon usage frequency1 Residue NS2B-DENV-3 Codon switch Met084Phe ATG to TTC NS3-DENV-3       Thr118Ser ACT to TCT 1.1 Asn152Asp AAT to GAT 3.3 Ile165Leu ATA to CTA 0.3 1   1.8 average frequency this codon is used per 100 Codons Table 3.4. Mutated residues and codon usage in E. coli genes Table 3.5 summarizes the activities in percentages compared to WT. Mutant N152D is completely inactive, likewise the mutant N152A. Mutant I165L shows residual activity in a similar range to mutant I165A. However mutants M084F as well as T118S show activities that are only slightly reduced compared to WT. This is a striking contrast to when the same residues are mutated to alanine (Table 3.2). Figure 3.10 compares the same four mutants with WT graphically including the data for the corresponding alanine mutants. For an overall comparison Figure 3.11 shows the data for all mutants that showed activity compared to the WT. 53   Chapter 3 Results   Mutant Wildtype     NS2B-DENV-3   Met084Phe Activity in %           100%   62% Mutant   NS3-DENV-3     Thr118Ser Asn152Asp Ile165Leu   Activity in %       61% Not active 6%   Table 3.5. Mutant protease activities compared to WT. Mutants were compared at an enzyme concentration of 0.25 µM and a substrate concentration of 150 µM. Measurements were done in duplicates and the mean value was normalized to the WT. Figure 3.10. Activities of mutants compared to WT. Graph shows the four mutants that were selected for further mutagenesis studies as well as their corresponding alanine mutants. T118A, N152A and N152D are also included in the graph although they did not show activity. Measurements were done in duplicates and the mean value was normalized to the WT. 54   Chapter 3 Results   Figure 3.11. Activities of mutants compared to WT. Graph shows all active mutants from the two sets of mutagenesis studies. Measurements were done in duplicates and the mean value was normalized to the WT. (A) 55   Chapter 3 Results   (B) (C) Figure 3.12. Substrate dilutions plotted against fluorescence signal and analysed by non-linear regression fitted by the Michaelis-Menten equation. Mutant T118S (A) exhibited increased activity compared to the alanine mutant, whereas I165L (C) only showed a little and N152D (B) no activity. Mean values were plotted and error bars reflect standard deviations obtained from duplicate measurements. Table 3.6 shows the different kinetic parameters that were obtained from the measurements of the enzymatic assay for the four selected mutants and WT. No activity could be measured for mutant N152D, which is also reflected in the kinetic parameters. Vmax is again extremely small similar to mutant N152A and therefore calculations for additional kinetic parameters have been excluded. The same is true for mutant I165L, which exhibited little activity (Table 3.5). The kinetic parameters for both mutants M084F and T118S are similar (Table 3.5). They have an increased kcat and a significantly higher kcat/KM as compared to the inactive mutants. The KM 56   Chapter 3 Results   values for the active mutants and WT are in a similar range, suggesting that the mutations do not have an influence on substrate affinity. However the differences for the vmax values are substantial, indicating an impact on the maximal rate due to the mutations. Mutant   kcat / KM 215.2 ± 58.2   220.1 ± 25.2   880.4 ± 100.8   4.1 ± 1.7   171.7 ± 23.7   42.03 ± 2.3 168.1 ± 9.2 1 ± 0.4 167.2 ± 33.5 – – 41.5 ± 3.3   0.6 ± 0.3   2.8 ± 0.1   166 ± 13.2   –   –   1 ± 0.4   –   –       NS2B-DENV-3     Met084Phe   Thr118Ser Asn152Asp Ile165Leu kcat (Rfu µM min-1)   Wildtype   NS3-DENV-3   vmax (Rfu/min) KM (µM)                           Table 3.6. Kinetic parameters for DENV-3 NS2B-NS3 mutants and WT. 3.1.5 Assessing Viral Replication of Selected Mutants In Vitro To examine the relevance of the biochemical results obtained in section 3.1.3 and 3.1.4 a DENV-2 infectious clone, carrying mutations on NS2B-NS3 protease, was generated and transfected into BHK21 cells. In contrast to the biochemical assays previously conducted, DENV-2 was used, simply because this serotype was available 57   Chapter 3 Results   at our institute. The idea was to monitor viral replication in vitro using immunofluorescence. The mutations as well as the codons that were used in the primers to generate the infectious clone are summarized in Table 3.7. A smaller shutter vector containing approximately half of the viral genome (8’934 bp, Figure 2.2) was used to first introduce the mutation, since it is easier to genetically manipulate this smaller vector. In a second step, the shutter containing the desired mutation was cleaved and ligated into the whole WT infectious clone (14’369 bp, Figure 2.3). Sequencing was used to check for the 3’ UTR as well as the introduction of the correct mutation. In order to be in vitro transcribed, the cDNA plasmid was linearized using a restriction enzyme (ClaI). Linearization was confirmed by 0.8% agarose gel electrophoresis (Figure 3.13 A). After in vitro transcription the RNA quality was checked by agarose gel electrophoresis (Figure 3.13 B) before BHK21 cells could be transfected. Codon usage frequency1 Residue Codon switch NS3-DENV-2       Thr118Ala ACC to GCA 2.1 Thr118Ser ACC to AGC 1.5 Ile165Ala ATA to GCA 2.1 1 average frequency this codon is used per 100 Codons Table 3.7. Mutated residues and codon usage in E. coli genes 58   Chapter 3 Results   (A) (B) Figure 3.13. 0.8% agarose gel to check for linearization (A) and RNA quality (B). Gel confirmed that mutant infectious clones were linearized by ClaI restriction enzyme (A). RNA purity after IVT was checked by an agarose gel (B). 59   Chapter 3 Results   Viral replication was monitored for 4 days post transfection (p.t.) and samples were stained for the envelope protein (anti-E 4G2) and NS3 (anti-NS3). Expression of both NS3 and the envelope protein can be clearly seen in the WT clone, where expression peaked at day 3 and 4 p.t. respectively (Figure 3.14). For mutant T118S NS3 expression is slower and fewer cells are IFA-positive compared to WT with peaked expression at day 4. The staining for the envelope protein is not as strong as for NS3. Nevertheless substantial expression can be seen on day 4 p.t (Figure 3.15). Mutant T118A shows less expression of NS3 as well as envelope protein compared to both WT and T118S. Only a few cells express both proteins and the majority of cells are IFA-negative even at day 4 p.t. (Figure 3.16). Samples for mutant I165A were IFAnegative for both NS3 as well as the envelope protein (Figure 3.17). These findings are consistent with the data from the enzyme activity assay and show that mutations to alanine impair NS3 activity, whereas the specific mutation of residue T118 to serine is able to restore NS3 activity similar to WT. 60   48 h.p.t. 72 h.p.t. Figure 3.14. Viral replication in vitro of DENV-2 wildtype infectious clone. IFA of BHK21 cells electroporated with genome-length WT RNA. At the indicated time points, cells were fixed with 100% cold methanol and incubated with anti-NS3 antibody (red, upper panel) and anti-E antibody (green, lower panel). Nuclear DNA was stained with DAPI (blue). Slides were analyzed by fluorescence microscopy. 24 h.p.t.   96 h.p.t. Anti-E Anti-NS3 Chapter 3 Results   61   48 h.p.t. 72 h.p.t. Figure 3.15. Viral replication in vitro of DENV-2 mutant T118S infectious clone. IFA of BHK21 cells electroporated with genome-length mutant T118S RNA. At the indicated time points, cells were fixed with 100% cold methanol and incubated with anti-NS3 antibody (red, upper panel) and anti-E antibody (green, lower panel). Nuclear DNA was stained with DAPI (blue). Slides were analyzed by fluorescence microscopy.   24 h.p.t. 96 h.p.t. Anti-E Anti-NS3 Chapter 3 Results   62   24 h.p.t. 48 h.p.t. 72 h.p.t. 96 h.p.t. Anti-E Anti-NS3   Figure 3.16. Viral replication in vitro of DENV-2 mutant T118A infectious clone. IFA of BHK21 cells electroporated with genome-length mutant T118A RNA. At the indicated time points, cells were fixed with 100% cold methanol and incubated with anti-NS3 antibody (red, upper panel) and anti-E antibody (green, lower panel). Nuclear DNA was stained with DAPI (blue). Slides were analyzed by fluorescence microscopy.   Chapter 3 Results 63   48 h.p.t. 72 h.p.t. 96 h.p.t. Anti-E Anti-NS3   Figure 3.17. Viral replication in vitro of DENV-2 mutant I165A infectious clone. IFA of BHK21 cells electroporated with genome-length mutant I165A RNA. At the indicated time points, cells were fixed with 100% cold methanol and incubated with anti-NS3 antibody (red, upper panel) and anti-E antibody (green, lower panel). Nuclear DNA was stained with DAPI (blue). Slides were analyzed by fluorescence microscopy.   24 h.p.t. Chapter 3 Results 64   Chapter 4 Discussion   DISCUSSION 65   Chapter 4 Discussion   Chapter 4 Discussion An estimated 50 to 100 million infections are caused every year by one of the four DENV serotypes (Guzman et al., 2010). And yet there are no clinically approved vaccines or therapeutics. It is therefore essential to understand the basic principles behind DENV infection in order to get new potential targets leading to vaccines or antiviral therapeutics. Viral proteases have shown to be a potential target. Two protease inhibitors that are acting against the viral protease of HCV, belonging to the genus Flavivirus, have been approved recently (Chen and Njoroge, 2009). Others are still in various stages of clinical trials (Soriano et al., 2011). The DENV protease domain, comprising the first ~ 170 amino acids of NS3, shares high sequence homology with various members of the genus Flavivirus (Valle and Falgout, 1998). The serine protease is crucial for viral polyprotein processing and depends on association with a hydrophilic portion of the NS2B protein for activity (Erbel et al., 2006). Together with host proteases, the viral protease is essential for viral replication and therefore a putative target against DENV infection (Chambers et al., 1990). Recent findings have revealed a pocket larger than the active site that is formed, when NS3-NS2B adopts the closed conformation. Residues from both NS3 as well as NS2B are lining that pocket (Noble et al., 2011). Furthermore conservation of the pocket in the WNV protease structure suggests that it is functionally important (Aleshin et al., 2007; Erbel et al., 2006). 66   Chapter 4 Discussion   Based on these findings mutagenesis studies were conducted on selected residues lining the pocket in order to get a better understanding of how this newly identified pocket influences protease activity, and whether it can be targeted by direct-acting antivirals. In the first part of our study eight residues of DENV-3 NS2B-NS3 that line this pocket, were selected, mutated to alanine and tested for enzymatic activity (Table 3.1). Based on these results, four of these residues were picked for further mutagenesis studies (Table 3.4). Finally, an infectious clone of DENV-2 was used to assess viral replication in vitro for three of the selected mutants (Table 3.7). 4.1. Alanine Mutagenesis Studies Alanine substitutions in the selected residues of DENV-3 NS2B-NS3pro indeed had marked effects on enzymatic activities. Five Mutants were completely inactive, whereas activity for two mutants was substantially decreased compared to WT. However one mutant showed slightly increased activity compared to WT. Since the values obtained for vmax for the inactive mutants were extremely small, kinetic parameters were only calculated for the two active mutants and WT. Substantial differences could be seen in KM, a measure that is related to the substrate binding affinity. It is more than two-fold increased for mutant M084 whereas reduced by half for Q167 compared to WT. Differences for vmax were not as striking. The same is true for kcat values, since calculations directly depend on vmax (Table 3.3). Together this 67   Chapter 4 Discussion   suggests that mutations in those two residues have an impact on the binding affinity rather than on the maximal rate and the turnover number kcat. Salaemae et al. have previously conducted a similar study where they mutated selected residues of DENV-2 NS3 to alanine. They were able to show that alanine substitution had a vital effect on substrate affinity for all selected mutants with one exception. All mutants showed increased KM values whereas one mutant had a slightly higher substrate affinity compared to WT. Of interest in relation to my study are their results for residues N152 and I165. Of all the mutants, where activity was detectable, those showed the highest KM values and smallest values for kcat, indicating a dramatic impairment on enzymatic activity (Salaemae et al., 2010). This is overlapping with our findings where activities for residues N152 and I165 were also dramatically reduced. Yet our values have not been adjusted to standard concentrations of AMC as compared to Salaemae’s study and hence individual values cannot be compared directly. In addition DENV-3 was used in my study, whereas the previous study used DENV-2 protease, which is more active in vitro and hence the kinetics cannot be directly compared anyway. However, these results suggest that these two residues are of high importance for the function of the NS3 protease and likely to be involved in substrate binding. 68   Chapter 4 Discussion   4.2. Additional Mutagenesis Studies Residues M084 located on NS2B as well as T118, N152 and I165 located on NS3 were picked for further mutagenesis studies. 4.2.1 M084 Mutating the methionine at position 84 to an alanine in NS2B had already an extensive impact on protease function. Activity was ten-fold reduced compared to WT indicating the residue to be of importance for enzymatic activity (Table 3.2). Ligandbound crystal structures of NS2B-NS3 have recently revealed that NS2B actually wraps around NS3 forming a β-hairpin in the closed conformation. Where backbone carbonyls of M084, as well as of G82, interact with specific substrate side chains and thereby stabilize the β-hairpin structure (Noble et al., 2011). In addition to that, DENV-4 (Figure 3.4) as well as WNV proteases carry a phenylalanine instead of the methionine at the same position. We therefore decided to generate another mutant containing a phenylalanine at residue 84. The protease function could be partially rescued by addition of an aromatic side chain instead of a methyl group and lead to a five-fold increase in activity compared to M084A (Figure 4.1). However mutant M084F still showed impaired cleavage efficiency compared to WT, despite both residues having long hydrophobic side chains. 69   Chapter 4 Discussion   Figure 4.1. Chemical structure of methionine (left) and phenylalanine (right) including their molecular weight. Comparing the obtained kinetic parameters to WT substantial differences for vmax and therefore kcat as well can be seen. However the KM differs only slightly from WT. Suggesting that the mutation has an impact on the maximal rate and the catalytic efficiency rather than on the binding affinity. This agrees with the findings of Noble et al. where residue M084 was suggested to be stabilizing the β-hairpin of NS2B wrapping around NS3 (Noble et al., 2011), therefore facilitating cleavage, once substrate has bound, by keeping NS2B in close proximity to NS3. Additionally methionine and phenylalanine are both hydrophobic, whereas alanine is smaller and less hydrophobic. Hydrophobic interactions are important for stabilizing the protein’s tertiary structure, which is directly associated with its function. 70   Chapter 4 Discussion   4.2.2. T118 The alanine mutation at position 118 in NS3 had a remarkable impact on cleavage activity of the protease. No activity could be detected. The idea of introducing a serine instead of an alanine at that position was to see if activity could be rescued, by a more conservative change for threonine to serine. Essentiallly the serine was able to restore activity to more than 60% compared to WT. As seen for mutant M084F, the Michaelis-Menten constant for mutant T118S was also only slightly affected. However the maximal rate and the kcat showed a five-fold decrease in contrast to WT. Serine and threonine are the two only amino acids carrying an aliphatic hydroxyl group. They can basically be seen as the hydroxylated version of alanine and valine. Adding a hydroxyl group renders them more hydrophilic as well as more reactive (Figure 4.2). Figure 4.2. Chemical structure of threonine (left) and serine (right) including their molecular weight. Recovery of activity by introducing a serine instead of an alanine therefore suggests that the hydroxyl group is the main factor influencing protease activity. 71   Chapter 4 Discussion   4.2.3. N152 N152 was shown to be important for protease activity in a recent study on WNV as well as on DENV-2. Activity of the N152A mutant was completely abolished in WNV, whereas in DENV-2 a substantial 60-fold decrease in catalytic efficiency compared to WT could be measured (Chappell et al., 2005; Salaemae et al., 2010). There was no detectable activity in my study, which is consistent with the earlier findings. In order to identify the determinant responsible for abolished activity we wanted to introduce a subtle change and see if activity could be rescued. An aspartic acid was introduced instead of an asparagine basically replacing the amide group by a carboxylate (Figure 4.3). Figure 4.3. Chemical structure of asparagine (left) and aspartic acid (right) including their molecular weight. Similar to mutant N152A, only residual activity could be detected for N152D. Residue N152 is part of the allosteric pocket and its side chain presumably interacts 72   Chapter 4 Discussion   with the substrate side chain via hydrogen bonding as suggested recently (Erbel et al., 2006). Asparagine can function both as a hydrogen bond donor as well as an acceptor. The amino group in particular serves as a donor enabling it to potentially form a specific contact with the substrate. Aspartic acid on the other hand is only able to serve as a hydrogen bond acceptor at physiological pH. Therefore suggesting that the hydrogen donor function is essential for protease function, since activity could not be restored by introducing an aspartic acid. 4.2.4. I165 Mutation of I165 to alanine resulted in a dramatic increase in KM in a recent study suggesting an important role in substrate binding (Salaemae et al., 2010). Removing the bulky side chain lead to a dramatic decline in activity likewise in my study. By replacing the alanine by a leucine I wanted to find out whether activity was dependent on the size and shape of the side chain. Isoleucine and leucine share the same chemical formula and properties. The only difference between the two amino acids is the orientation and shape of the carbon side chain (Figure 4.4). 73   Chapter 4 Discussion   Figure 4.4. Chemical structure of isoleucine (left) and leucine (right) including their molecular weight. Although a two-fold increase in activity could be detected compared to mutant I165A, activity is still extremely low compared to WT. This again agrees with the suggestion of Salaemae et al. for residue I165 being involved in substrate binding rather than catalysis. The hydrophobicity of the amino acid does not determine activity. Instead the shape of the side chain within the protein seems to be a major factor influencing protease function. 74   Chapter 4 Discussion   4.3 Viral Replication In Vitro In order to assess the relevance of the biochemical results from the mutagenesis studies, viral replication was monitored in vitro. RNA from DENV-2 whole-genome infectious clones of mutants T118A, T118S, I165A and WT were transfected into BHK21 cells and immunofluorescence staining was done for days 1-4 post transfection. Cells were stained for NS3 protein as well as the envelope protein. DAPI was used to confirm the localization of NS3 and envelope protein with respect to the nucleus within the infected cell. NS3 staining was chosen since we were mutating the NS3 protease and wanted to know whether NS3 was actually present in infected cells. In addition, since the protease is mediating polyprotein processing by cleavage, occurrence of envelope protein indicates NS3 protease activity. Surprisingly NS3 as well as envelope staining were detectable for mutant T118A. Although only few cells were IFA-positive and replication seemed to be delayed this result contradicts the AMC assay outcome, where no activity was detectable. A possible explanation for the observed discrepancy could be due to the fact that two different serotypes of DENV were used in the biochemical assay and the IFA. DENV2 is in general more active than DENV-3 in vitro, explaining the partial activity of DENV-2 T118A infectious clone in the IFA. Another possible reason for the observed differences could also be due to assay sensitivity. Low activity may be sufficient for in vitro replication. Mutant T118S on the other hand agreed with the biochemical results. Viral replication was slower as well as fewer cells were infected compared to 75   Chapter 4 Discussion   WT. Nevertheless a substantial number of cells were IFA-positive. In general a clear difference can be observed between the two mutants, suggesting that the main driving factor for protease function is the hydroxyl group. For mutant I165A, which hardly showed enzyme activity in vitro, no IFA-positive cells could be detected. Viral replication was totally abolished suggesting that even though the protease was partially active, the virus was not able to propagate within the cell. This again strengthens the important role for NS3 protease in viral replication, and suggests isoleucine to be essential at this position. 76   Chapter 4 Discussion   4.4 Impact of Findings on Drug Discovery I was able to show that apart from the active site an even larger pocket formed within the NS2B-NS3 protease has an impact on enzymatic activity. This could be due to an allosteric mechanism affecting the active site and hence affecting protease function. Key residues and features of amino acids have been identified that had marked effect on protease function. Therefore this pocket could serve as a potential target for an antiviral drug against dengue. In order to screen for compounds that specifically bind to this pocket and not the active site, fragment-based screening (FBS) would be a novel useful tool, as opposed to other conventional screening methods like high throughput screening (HTS). FBS compounds have usually a much lower molecular weight and often only bind weakly to the target. Detection of hits is therefore challenging and relies on use of specific techniques like nuclear magnetic resonance (NMR) or X-ray crystallography. FBS in general leads to higher hit rates and compared to HTS also fewer compounds have to be screened. But since the affinity towards the target is usually lower it can be difficult to optimize leads in order to get a lead that meets all the necessary requirements. One possible way to increase affinity is for example to combine multiple low affinity hits that bind to different sites of the target molecule and link these fragments together. In relation to the NS2BNS3protease, structural approaches can now be used to identify molecules that specifically bind to the identified key residues in the allosteric pocket and that later could be potential compounds for an antiviral drug. 77   Chapter 4 Discussion   4.5 Conclusion and Outlook The DENV NS2B-NS3 protease has progressively gained interest in the last years, especially as a potential target for antiviral therapeutics. A number of studies have been conducted to characterize the two-component protease from a biochemical point of view as well as from the structural point of view. Studies in the past have mainly focussed on the active site of the DENV protease. However, recent studies have revealed another pocket larger than the active site, which is conserved among the DENV serotypes and likely to be of importance for the protease function. This study was for the first time able to identify key residues in the DENV NS2BNS3 protease allosteric pocket, that are important for protease function. In addition, conservative mutagenesis studies revealed key features of a selected subset of identified residues, crucial for protease activity. Recombinant DENV-3 protease was used to biochemically assess the functional importance of the allosteric site. In vitro replication studies, with a DENV-2 infectious clone, were later used to in confirm the biochemical results obtained with DENV-3. Taken together these findings are especially valuable for drug discovery. The identified key residues are highly conserved within DENV 1-4 and our results for both DENV-3 and DENV-2 were overlapping. A protease inhibitor targeting the allosteric site could therefore potentially be used for more than one serotype. Fragment-based screening, as a novel approach, could be useful in order to design inhibitors targeting not only one specific binding site, but combining several binding sites in close proximity. It would be interesting to further extend our experiments to 78   Chapter 4 Discussion   other DENV serotypes and include additional conserved mutagenesis studies for additional key residues. This could give us a complete picture of the functional importance of the allosteric pocket within the four serotypes. In addition one could also think of applying the concept on other closely related viruses like YFV or WNV.       79   Bibliography   BIBLIOGRAPHY 80   Bibliography   Ackermann, M. and Padmanabhan, R., 2001. De novo synthesis of RNA by the dengue virus RNA-dependent RNA polymerase exhibits temperature dependence at the initiation but not elongation phase. 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Appendix 6.1 Additional protocols Bacterial transformation 1. 2. 3. 4. 5. 6. add 1-10 µl of the plasmid DNA to one tube of competent cells incubate on ice for 30 min heat shock the cells for 30-60 sec in the waterbath at 42°C (not shaking) transfer the tube on ice and incubate for another 2 min add 300 µl of nutrient broth (LB), 100 µl for SDM cap the tube tightly and shake it for 30-60 min at 37°C shaking at 220 rpm, place on ice 7. spread the transformation onto a LB plate containing 100 µg/ml ampicillin, incubate for 10 min at RT and then invert the plate and place it into the 37°C incubator O/N Cleaning up of PCR product 1. 2. 3. 4. 5. 6. add 1/10 of the whole volume of 4M NaCl to PCR product add 2.5 times of the total volume of 100% ice cold ethanol to the mixture incubate on ice for 15 min centrifuge at 4°C at maximum speed for 15 min remove liquid and air dry the tube resuspsend in 3-10 µl water Growing cells and expression of proteins 1. pick an individual colony from the LB plate grown O/N and start a 20 ml LB culture containing 100 mg/ml amp O/N at 37°C shaking at 220 rpm 2. inoculate 5 ml of the O/N culture into 500 ml LBAmp in a 2 l flask (aeration!) 3. shake the flasks at 37°C and 160 rpm for 2-3 hours and regularly check the OD 4. as soon as the OD has reached 0.6-0.8 cool down the cultures to 4°C for 10 min 5. add IPTG to 0.5 mM and incubate shaking at 30°C and 160 rpm for 4 hours (alternatively incubate at 16°C O/N) 6. centrifuge the culture for 10 min at 6000 rpm and discard the supernatant 7. resuspend the pellet in 10-20 ml GST binding buffer Protein purification 1. 2. 3. 4. 5. sonicate the sample at 50% intensity, pulse 2 sec on and 5 sec off for 10 min centrifuge cell lysate after sonication at 20'000 rpm for 45-60 min at 4°C filter lysate with a 0.20 µm filter inject lysate into FPLC machine using a GST column set up the programme: GST trap, GST removal, Gel filtration 92   Appendix   QIAquick gel extraction kit protocol 1. weigh the gel slice in a colorless tube and add 3 volumes of buffer QG to the tube (100 mg = 100 µl) 2. incubate the tube containing the gel slice and buffer QG in a waterbath at 50°C until the slice has completely dissolved (make sure that the color of the mixture is still yellow) 3. add 1 gel volume of isopropanol to the sample mix and place it into a QIAquick spin column 4. spin the column for 1 min and then discard the flow through 5. add another 500 µl buffer QG to the spin column and centrifuge for 1 min 6. to wash add another 750 µl of buffer PE + ethanol to the column, let it stand for 5 min and centrifuge for 1 min 7. repeat step 6 8. discard the flow through and centrifuge for another 1 min 9. place the column into a new microcentrifuge 10. add 35 µl of water to center of the column to elute DNA, let it stand for 1 min and centrifuge for 1 min at maximum speed Ligation mix T4 DNA Ligase T4 DNA ligase buffer (10x) µl Plasmid1 µl Insert1 µl Add water to a final volume of 1 µl 1.5 3-6 3-6 15 µl 1 The ratio between plasmid and insert has to be 1:3-5. My plasmid is about 3 times bigger than the inserts hence I can use the same concentrations for insert and plasmid. Digestion mix 10x buffer NEB2 5 µl 10x BSA 5 µl DNA 2 µg Nhe-I 1 µl Xho-I 1 µl Add water to a final volume of 50 µl 93   Appendix   In vitro transcription cDNA (linear) 2 x dNTPs/ Cap 10x buffer Enzyme mix Add water to a final volume of 2 µg 10 µl 2 µl 2 µl 20 µl Linearization 10x buffer NEB 10x BSA ClaI DNA Add water to a final volume of 10 µl 10 µl 10 µl 10 µg 100 µl PCR mix Nuclease-free water Quik Solution (DMSO) 10x Buffer with MgSO4 dNTP mix, 10 mM each primer mix (10mM each) DNA template (20 ng/µl) Polymerase (2.5/ µl) 37.5 µl 3 µl 5 µl 1 µl 1.5 µl 1 µl 1 µl 94   [...]... Africa into the Americas during the slave trade in the 17th and 18th centuries DENV on the other hand has spread globally in the 18th and 19th centuries with expanding shipping industry and trading Additionally DENV transmission dynamics and epidemiology were shaped dramatically during and following World War II in South East Asia resulting in geographical spread of the disease and the vector The factors... virion surface incorporates two viral proteins, E (envelope) and M (membrane) The E glycoprotein mediates binding and fusion during virus entry, whereas the M glycoprotein is the remaining proteolytic fragment of precursor prM protein and produced during maturation (Figure 1.5 (a)) The RNA genome has an open reading frame that encodes a single polyprotein comprised of three structural and seven non-structural... (WHO) over 40% of the world’s population, or 2.5 billion people, live in areas of transmission and hence are at risk of getting dengue Only nine countries were known to have severe dengue epidemics before 1970 and dengue is now endemic in more than 100 countries across the globe The disease is present in many parts of the tropics and subtropics in Africa, the Americas, South-East Asia, the Western Pacific... the Eastern Mediterranean An estimated 50-100 million dengue infections occur worldwide annually with 500’000 severe cases every year being hospitalized and 2.5% deaths of those affected (Mackenzie et al., 2004) Figure 1.2 Distribution of dengue infection according to the World Health Organization in 2010 Highlighted in orange are the areas and countries where dengue has been reported The January and... structure of threonine (left) and serine (right) including their molecular weight 71 Figure 4.3 Chemical structure of asparagine (left) and aspartic acid (right) including their molecular weight 72 Figure 4.4 Chemical structure of isoleucine (left) and leucine (right) including their molecular weight 74 x   List of Symbols   LIST OF SYMBOLS Aa Amino Acid ADE Antibody Dependent Enhancement... cytoplasm the positive-sense viral RNA is translated into a single polyprotein that is further cleaved co- and post-translationally by host and viral proteases into 10 proteins (Lindenbach and Rice, 2003) Virus assembly occurs on the surface of the endoplasmic reticulum (ER) (Figure 1.5 (6c)) Immature, non-infectious viral particles, that cannot induce host-cell fusion, are formed in the lumen of the ER and... 1990; Markoff et al., 1997) 14   Chapter 1 Introduction   1.6.2 Pre-membrane The Pre-membrane (prM) protein is a precursor protein (~ 34 kDa) of the membrane (M) protein (~ 26 kDa) and is cleaved by the host protease furin in the TGN Cleavage mediates maturation and is important for release of viral particles (Elshuber et al., 2003) In addition prM is essential for proper folding and secretion of the envelope... (Pincus et al., 1992), DENV (Fonseca et al., 1994) and TBEV (Heinz et al., 1995) 1.6.3 Envelope The E protein (~ 53 kDa) is the major structural protein exposed at the surface of the virion It plays a role in a number of processes including receptor binding, membrane fusion, virion assembly and is the major target for neutralizing antibodies (Chambers et al., 1990; Heinz, 1986) The E protein contains... triggered by the acidic environment within the endosome that leads to fusion of the viral and the cell membrane (Figure 1.5 (3c)) The nucleocapsid is then released into the cytoplasm and replication of the RNA genome is initiated after dissociation of the capsid protein and the viral RNA (Mukhopadhyay et al., 2005; Figure 1.5 (4c, 5c)) 1.5.3 Viral Replication, Assembly and Release Upon release into the cytoplasm... required for unwinding dsRNA during viral replication, whereas the NTPase is necessary to provide the energy for unwinding The RTPase on the other hand is involved in capping of viral RNA The NS3 protease is crucial for cleavage of the polyprotein together with NS2B 17   Chapter 1 Introduction   (Benarroch et al., 2004; Borowski et al., 2001; Chambers et al., 1993; Lescar et al., 2008; Patkar and Kuhn, 2008; .. .THE IMPORTANCE OF AN ALLOSTERIC POCKET IN THE DENGUE PROTEASE NOEMI REBECCA MEIER B.SC (MAJOR IN INTEGRATIVE BIOLOGY), UNIVERSITY OF BASEL A THESIS SUBMITTED FOR THE DEGREE OF MASTER OF SCIENCE... during the slave trade in the 17th and 18th centuries DENV on the other hand has spread globally in the 18th and 19th centuries with expanding shipping industry and trading Additionally DENV transmission... revealed an allosteric pocket lined by residues of both NS2B and NS3 The goal of this study is to assess the functional importance of this pocket by mutating selected residues lining the pocket

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