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POINT MUTATION
Edited by Colin Logie
Point Mutation
Edited by Colin Logie
Published by InTech
Janeza Trdine 9, 51000 Rijeka, Croatia
Copyright © 2012 InTech
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First published March, 2012
Printed in Croatia
A free online edition of this book is available at www.intechopen.com
Additional hard copies can be obtained from orders@intechopen.org
Point Mutation, Edited by Colin Logie
p. cm.
ISBN 978-953-51-0331-8
Contents
Preface IX
Part 1 Current Views on Point Mutation Theory 1
Chapter 1 Point Mutations, Their Transition Rates and
Involvements in Human and Animal Disorders 3
Viliam Šnábel
Chapter 2 Bioinformatical Analysis of Point
Mutations in Human Genome 15
Branko Borštnik and Danilo Pumpernik
Chapter 3 Estimating Human Point Mutation
Rates from Codon Substitution Rates 31
Kazuharu Misawa
Part 2 Point Mutation in Viruses:
From Drug Resistance to Vaccination 43
Chapter 4 Point Mutations and Antiviral Drug Resistance 45
José Arellano-Galindo, Blanca Lilia Barron,
Yetlanezi Vargas-Infante, Enrique Santos-Esteban,
Emma del Carmen Herrera-Martinez,
Norma Velazquez-Guadarrama
and Gustavo Reyes-Teran
Chapter 5 Point Mutations Associated with
HIV-1 Drug Resistance, Evasion of the
Immune Response and AIDS Pathogenesis 93
Makobetsa Khati and Laura Millroy
Chapter 6 Recombination and Point
Mutations in Type G Rotavirus Strains:
The Challenges of Vaccine Development 133
Abid Nabil Ben Salem, Rouis Zyed,
Buesa Javier and Aouni Mahjoub
VI Contents
Chapter 7 Molecular Attenuation Process in Live
Vaccine Generation for Arenaviruses 159
Sandra Elizabeth Goñi and Mario Enrique Lozano
Part 3 Point Mutation in Bacteria:
Human Activity-Driven Evolution 183
Chapter 8 Mutational Polymorphism in the
Bacterial Topoisomerase Genes
Driven by Treatment with Quinolones 185
Maja Velhner and Dragica Stojanović
Part 4 Point Mutation in Eukaryote:
From Pathogens to Cigarette Smoke 211
Chapter 9 Point Mutation in Surveillance
of Drug-Resistant Malaria 213
Sungano Mharakurwa
Chapter 10 Correlations with Point Mutations and
Severity of Hemolitic Anemias: The Example
of Hereditary Persistence of Fetal Hemoglobin
with Sickle Cell Anemia and Beta Thalassemia 227
Anderson Ferreira da Cunha, Iran Malavazi,
Karen Simone Romanello and Cintia do Couto Mascarenhas
Chapter 11 Point Mutations That Reduce
Erythrocyte Resistance to Oxidative Stress 255
Dmitriy Volosnikov and Elena Serebryakova
Chapter 12 Point Mutations in Ferroportin Disease:
Genotype/Phenotype Correlation 285
Riad Akoum
Chapter 13 p53: Point Mutations, SNPs and Cancer 301
Ming Fang, Iva Simeonova and Franck Toledo
Chapter 14 Transgenerational Effects of Maternal
Nicotine Exposure During Gestation
and Lactation on the Respiratory System 323
G. S. Maritz
Chapter 15 Synthetic Point Mutagenesis 335
Roman A.G. Schaeken, Joke J.F.A. van Vugt
and Colin Logie
Preface
Point mutation is a vast subject that could not be captured in a set of fifteen vignettes.
This book therefore reflects the interest of its authors, who are, for the most part,
medically oriented scientists from all over the world, from Latin America to Russia
and from Africa to Asia. A diverse array of research fields are broached, with an effort
to bring the reader up to date with the knowledge amassed since the year 2000. After
an introductory chapter on point mutation, current theory is expounded in two
chapters on human point mutation. This is followed by five chapters on point
mutation in viral genomes, going from adaptation of HIV to current therapies to
antiviral vaccination and point mutation. Next, current trends in our knowledge of
bacterial adaptation to quinolone antibiotics is described. This is followed by point
mutagenesis in eukaryotic genomes, going from drug resistance in malaria to the
nefarious effects of cigarette smoking. Finally, two contemporary synthetic point
mutagenesis methodologies are described.
Colin Logie
Nijmegen Centre of Molecular Life Sciences,
Nijmegen,
The Netherlands
[...]... of point mutations: nucleotide replacements produced by the genomic and snp mutations and replication slippage events There are several possible realizations of mutation density studies One can look for the differences between genomic and snp nucleotide replacements and replication slippage mutations Further, one can compare the mutation densities occurring in the human genome to those 18 Point Mutation. ..Part 1 Current Views on Point Mutation Theory 1 Point Mutations, Their Transition Rates and Involvements in Human and Animal Disorders Viliam Šnábel Parasitological Institute, Slovak Academy of Sciences, Košice, Slovakia 1 Introduction Point mutation or single base substitution is the replacement of a single base nucleotide with another nucleotide of the genetic material Point mutations can be divided... programmed cell death (BirchMachin, 2006) The first primary pathological mutations in mtDNA were discovered over 20 years ago (Holt et al., 1988; Wallace et al., 1988), and since then more than 100 mutations of mtDNA have been linked to human disease The vast majority of these mutations fall into 6 Point Mutation two classes: point mutations and large-scale rearrangements The latter can be partial deletions... time by TpG/CpAs Mammals thus exhibit two dramatically different neutral mutation rates: the CpG mutation rate and the non-CpG rate Walser et al (2011) determined the neutral non-CpG mutation rate as a function of CpG content by comparing sequence divergence of thousands of pairs of neutrally evolving chimpanzee and human orthologs that differ primarily in CpG content Both the mutation rate and the mutational... 2008) Pan et al (2011) identified 8 Point Mutation heat-shock protein 60 (HSP 60) as one of the most frequently expressed biomolecules after albendazole treatment of patients that could be connected with beta-tubulin gene isoform 2 which exhibits a conserved point mutation indicative of benzimidazole resistance in tapeworm Echinococcus granulosus Detection of point mutations has been beneficial in allowing... Microsatellite markers exhibit mutation rates that exceed the average mutation rates by two orders of magnitude In this work we shall put under scrutiny whether the nucleotide replacement process and the replication slippage mechanism produce comparable densities of mutational changes 1.4 The distribution of mutations along the chromosomes Since stochasticity is an essential component of the mutational processes... affected by an OXPHOS defect due to nuclear or mtDNA mutations were observed Patients with nuclear mutations became symptomatic at a young age, and had a severe clinical course Patients with mtDNA mutations showed a wider clinical spectrum of age at onset and severity Reported differences are of importance regarding the choice of type of genome in further studies of affected patients 2.2 Point mutations... with widely varying base composition exhibit uniformity of transition mutation rate both within and among mammalian lineages, with no relationship to intrachromosomal or interchromosomal effects This points to similarity in point mutation processes in genomic regions with substantially different GCcontent biases Knowledge of the mutational transition/transversion rate bias also allows a prediction... range of species by postulating that the production of intracellular ROS is the major determinant of life span Intracellular ROS are primarily generated by the mitochondrial respiratory chain and thus constitute a prime target for oxidative damage According to this theory, mtDNA mutations caused by ROS accumulate within the cell, leading to impaired respiratory chain proteins, thereby generating more... are encoded by both nuclear and mitochondrial genes Therefore, Rubio-Gozalbo et al (2000) examined whether there are clinical differences in patients suffering from OXPHOS defects caused by nuclear or mtDNA mutations 16 families with >=2 two siblings bearing a genetically established OXPHOS deficiency were studied, in four families due to a nuclear gene mutation and twelve due to a mtDNA mutation Differences .
POINT MUTATION
Edited by Colin Logie
Point Mutation
Edited by Colin Logie
Published by InTech
Janeza Trdine.
Point Mutation, Edited by Colin Logie
p. cm.
ISBN 978-953-51-0331-8
Contents
Preface IX
Part 1 Current Views on Point Mutation
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