Human Molecular Genetics by Strachan, Tom -- Read -- Imperial Library of Trantor

Index

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 conditio 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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