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• Cover
• Title Page
• Copyright Page
• Contents
• Preface
• About the authors
• Contributors
• PART 1 BASICS OF DNA, CHROMOSOMES, CELLS, DEVELOPMENT AND INHERITANCE
• 1 Basic principles of nucleic acid structure and gene expression
• 1.1 Composition of nucleic acids and polypeptides
• 1.2 Base pairing in DNA and RNA, the double helix, and DNA replication
• 1.3 RNA transcription and gene expression
• 1.4 RNA processing
• 1.5 Translation, post-translational processing, and protein structure
• Summary
• Further reading
• 2 Fundamentals of cells and chromosomes
• 2.1 Cell structure and diversity, and cell evolution
• 2.2 DNA and chromosome copy number during the cell cycle
• 2.3 Cell division and transmission of DNA to daughter cells
• 2.4 Structure and function of chromosomes
• Summary
• Further reading
• 3 Fundamentals of cell–cell interactions and immune system biology
• 3.1 Principles of cell signaling
• 3.2 Cell proliferation and programmed cell death
• 3.3 Cell adhesion and tissue formation
• 3.4 Immune system biology
• Summary
• Further reading
• 4 Aspects of early mammalian development, cell differentiation, and stem cells
• 4.1 Cell lineages and tissue differentiation in early mammalian development
• 4.2 Stem cells and cell differentiation
• Summary
• Further reading
• 5 Patterns of inheritance
• 5.1 Monogenic versus multifactorial inheritance
• 5.2 Mendelian pedigree patterns
• 5.3 Mosaicism and new mutations
• 5.4 Non-Mendelian characters
• Summary
• Further reading
• PART 2 UNDERSTANDING GENOMES
• 6 Core DNA technologies: amplifying DNA, nucleic acid hybridization, and DNA sequencing
• 6.1 Cloning DNA in bacterial cells
• 6.2 Amplifying DNA by in vitro DNA replication
• 6.3 Nucleic acid hybridization: principles and uses
• 6.4 DNA sequencing principles and Sanger dideoxy sequencing
• 6.5 Massively-parallel DNA sequencing (next-generation sequencing)
• Summary
• Further reading
• 7 Analyzing the structure and expression of genes and genomes
• 7.1 Genome structure analysis and genome projects
• 7.2 Basic gene expression analyses
• 7.3 High-throughput gene expression analyses
• 7.4 Single-cell genomics
• Summary
• Further reading
• 8 Principles of genetic manipulation of mammalian cells
• An overview of genome editing, gene silencing, and germ-line transgenesis
• 8.1 Artificial transfer of genetic material into mammalian cells
• 8.2 Principles of transgene expression in mammalian cells
• 8.3 Genome editing using homologous recombination
• 8.4 Genome editing using programmable site-specific endonucleases
• 8.5 Gene silencing
• 8.6 Germ-line transgenesis and transgenic animals
• Summary
• Further reading
• 9 Uncovering the architecture and workings of the human genome
• 9.1 An overview of the human genome
• 9.2 Gene organization and distribution in the human genome
• 9.3 Heterochromatin DNA and transposon repeats
• 9.4 A start on working out how our genome functions
• Summary
• Further reading
• 10 Gene regulation and the epigenome
• 10.1 Chromatin accessibility and conformation
• 10.2 Histones and other DNA-binding proteins
• 10.3 Regulation by DNA methylation and noncoding RNAs
• 10.4 X-inactivation, imprinting, and epigenetic memory
• 10.5 Making the transcript: promoters and enhancers
• 10.6 Post-transcriptional regulation
• Summary
• Further reading
• PART 3 GENETIC VARIATION BETWEEN INDIVIDUALS AND SPECIES
• 11 An overview of human genetic variation
• 11.1 Origins of DNA sequence variation
• 11.2 DNA repair
• 11.3 Population genomics and the scale of human genetic variation
• 11.4 Functional genetic variation and protein variation
• 11.5 Extraordinary genetic variation in the adaptive immune system
• Summary
• Further reading
• 12 Human population genetics
• 12.1 Allele frequencies and genotype frequencies: the Hardy–Weinberg relationship
• 12.2 Haplotype frequencies and linkage disequilibrium
• 12.3 Changing allele frequencies
• 12.4 Population structure and inbreeding
• Summary
• Further reading
• 13 Comparative genomics and genome evolution
• 13.1 Comparative genomics
• 13.2 Gene duplication, species differences in gene number, and evolutionary advantages of exons
• 13.3 Evolution of mammalian chromosomes
• 13.4 Regulatory sequence evolution and transposon origins of functional sequences
• 13.5 Phylogenetics and our place in the tree of life
• Summary
• Further reading
• 14 Human evolution
• 14.1 Human origins
• 14.2 Human evolutionary history from genome sequences
• 14.3 Inferring female and male histories using mitochondrial DNA and the Y chromosome
• 14.4 Health consequences of our evolutionary history
• Summary
• Further reading
• PART 4 HUMAN GENETIC DISEASE
• 15 Chromosomal abnormalities and structural variants
• 15.1 Studying human chromosomes
• 15.2 Gross chromosome abnormalities
• 15.3 Structural variants, microdeletions, and microduplications
• Summary
• Further reading
• 16 Molecular pathology: connecting phenotypes to genotypes
• 16.1 Loss of function
• 16.2 Gain of function
• 16.3 Dynamic mutations: unstable repeat expansions
• 16.4 Molecular pathology of mitochondrial disorders
• 16.5 Genotype–phenotype correlations
• Summary
• Further reading
• 17 Mapping and identifying genes for monogenic disorders
• 17.1 Positional cloning seeks to identify disease genes by first mapping them to a precise chromosomal location
• 17.2 Haplotype sharing and autozygosity
• 17.3 Whole-exome and whole-genome sequencing allow an unbiased and hypothesis-free approach to identifying the cause of a monogenic condition
• 17.4 Strategies for exome-based disease-gene identification
• 17.5 Confirming that the candidate gene is the correct one
• Summary
• Further reading
• 18 Complex disease: identifying susceptibility factors and understanding pathogenesis
• Introduction
• 18.1 Investigation of complex disease: epidemiological approaches
• 18.2 Investigation of complex disease using linkage
• 18.3 Investigation of complex disease using association
• 18.4 The limitations of genome-wide association studies
• 18.5 What have we learned about the genetics of complex characters?
• Summary
• Further reading
• 19 Cancer genetics and genomics
• Introduction
• 19.1 Oncogenes
• 19.2 Tumor suppressor genes
• 19.3 Key oncogenes and tumor suppressor genes work mainly to regulate cell cycle checkpoints and genome maintenance
• 19.4 A genome-wide view of cancer
• 19.5 Using our new understanding of cancer
• Summary
• Further reading
• PART 5 APPLIED HUMAN MOLECULAR GENETICS
• 20 Genetic testing in healthcare and the law
• 20.1 What to test and why
• 20.2 Testing for a specific genetic variant
• 20.3 Clinical diagnostic testing
• 20.4 Population screening
• 20.5 Pharmacogenetics and personalized medicine
• 20.6 DNA forensics: identifying individuals and relationships
• Summary
• Further reading
• 21 Model organisms and modeling disease
• 21.1 An overview of model organisms
• 21.2 Cellular disease models
• 21.3 Origins of animal models of genetic disorders
• 21.4 How useful are animal models of genetic disorders?
• Summary
• Further reading
• 22 Genetic approaches to treating disease
• 22.1 An overview of treating genetic disease and of genetic treatment of disease
• 22.2 Treating disease with genetically-engineered therapeutic proteins
• 22.3 Basic principles of gene therapy and RNA therapeutics
• 22.4 The practice of gene augmentation therapy for treating recessively inherited disorders
• 22.5 RNA therapeutics, therapeutic genome editing prospects, and genetic approaches to preventing disease
• Summary
• Further reading
• Glossary
• Index