Efnisyfirlit

• 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

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