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Informationen zum Autor 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. Klappentext 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 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 considers crucial unsolved problems Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is a must-read for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society. Inhaltsverzeichnis Preface ix 1 Genotypes and Phenotypes 1 1.1 DNA is a Text 1 1.2 Genomes Small and Large 6 1.3 Genes and Intergenic Regions 7 1.4 Cells, Mitosis, and Meiosis 14 1.5 From Genotype to Phenotype 17 Further Reading 21 2 Mendelian Inheritance and Population Genetics 23 2.1 Inheritance is Discrete 23 2.2 Populations are Genetically Variable 27 2.3 Loci and Genes 33 2.4 Effects of Alleles on Phenotypes 37 2.5 Mendelian Traits and Diseases 43 Further Reading 46 3 Complex Traits and Their Inheritance 49 3.1 Complex Inheritance of Phenotypes 49 3.2 Properties of a Complex Trait 52 3.3 Complex Traits in Populations 55 3.4 Effects of Heredity and Environment on Complex Traits 60 3.5 Polymorphic Loci Behind Complex Variation 64 Further Reading 68 4 Unavoidable Mutation 71 4.1 Phenomenon of Mutation 71 4.2 Kinds of Muta...
