Crumbling Genome

Alexey S. Kondrashov 지음

Wiley-Blackwell 2017년 05월 16일 출간

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A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre?]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes Provides a comprehensive review of the current state of knowledge in the field and consider

목차

1 Genotypes and Phenotypes 11.1 DNA is a Text 11.2 Genomes Small and Large 61.3 Genes and Intergenic Regions 71.4 Cells, Mitosis, and Meiosis 141.5 From Genotype to Phenotype 17Further Reading 212 Mendelian Inheritance and Population Genetics 232.1 Inheritance is Discrete 232.2 Populations are Genetically Variable 272.3 Loci and Genes 332.4 Effects of Alleles on Phenotypes 372.5 Mendelian Traits and Diseases 43Further Reading 463 Complex Traits and Their Inheritance 493.1 Complex Inheritance of Phenotypes 493.2 Properties of a Complex Trait 523.3 Complex Traits in Populations 553.4 Effects of Heredity and Environment on Complex Traits 603.5 Polymorphic Loci Behind Complex Variation 64Further Reading 684 Unavoidable Mutation 714.1 Phenomenon of Mutation 714.2 Kinds of Mutations 734.3 Spontaneous Mutation 754.4 Evolution of Mutation Rates 774.5 Artificial Mutagenesis and Antimutagenesis 79Further Reading 815 Struggle for Fidelity 835.1 Fidelity of DNA Replication 835.2 Cleaning Up After the Replisome 885.3 Dealing with DNA Damages 915.4 Harms of Broken Maintenance 965.5 Mechanisms of Mutation 100Further Reading 1046 Mutation Rates 1076.1 Measuring Mutation Rates 1076.2 Data on Mutation Rates 1096.3 Guilty Older Men 1126.4 Rates of Phenotypically Drastic Mutations 1146.5 Mild Mutations and Mutational Pressures 118Further Reading 1217 Natural Selection 1237.1 Vulnerable Adaptations and Their Evolutionary Origin 1

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저자(글) Alexey S. Kondrashov

Alexey S. Kondrashov, PhD is Professor of Ecology and Evolutionary Biology at the University of Michigan, Ann Arbor. His research interests include evolution of sex and genetic recombination, properties of spontaneous deleterious mutations and of selection against them, and dynamics of genetic variation in natural and artificial populations.