The human genome : a user's guide

The human genome : a user's guide / Julia E. Richards, R. Scott Hawley.

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Bibliographic Details
Main Author: Richards, Julia E.
Other Authors: Hawley, R. Scott
Format: Book
Language:English
Published: Amsterdam ; Boston : Elsevier Academic Press, 2011.
Edition:3rd ed.
Series:Elsevier science in society series.
Subjects:
Human genome.
Human gene mapping.
Human genetics.
Online Access:Companion web site
Table of Contents:
  • I. How genes specify a trait
  • 1. The basics of heredity: how traits are passed along in families
  • Mendel's laws
  • Selection: artificial, natural and sexual
  • Human genetic diversity
  • Human recessive inheritance
  • Complementation
  • Epistasis and pleiotropy
  • Complex syndromes
  • One man's disease is another man's trait
  • 2. The double helix: how cells preserve genetic information
  • Inside the cell
  • DNA: the repository of genetic information
  • DNA and the double helix
  • DNA replication
  • Chromatin
  • What are chromosomes?
  • Euchromatin and heterochromatin
  • The mitochondrial chromosome: the "other genome" in the human genome
  • DNA in vitro
  • II. How genes function
  • 3. The central dogma of molecular biology: how cells orchestrate the use of genetic information
  • What is RNA?
  • What is RNA for?
  • Transcription of RNA
  • Orchestrating expression
  • Monitoring gene expression
  • Interaction of transcription factors
  • Inducible genes
  • Epigenetic control of gene expression
  • What constitutes normal?
  • 4. The genetic code: how the cell makes proteins from genetic information encoded in mRNA molecules
  • The genetic code
  • Moving things in and out of the nucleus
  • The central dogma of molecular biology
  • Translation
  • Messenger RNA structure
  • Splicing
  • Modular genes
  • What are proteins?
  • Gene products and development
  • 5. We are all mutants: how mutation alters function
  • What is a mutation?
  • The process of mutation
  • How we detect mutations
  • Basic mutations
  • Mutations in DNA sequences t hat regulate gene expression
  • Copy number variation: too much or too little of a good thing
  • Expanded repeat traits
  • The male biological clock
  • Mutation target size
  • Absent essentials and monkey wrenches
  • III. How chromosomes move
  • 6. Mitosis and meiosis: how cells move your genes around
  • The cell cycle
  • Mitosis
  • Gametogenesis: what is meiosis trying to accomplish?
  • Meiosis in detail
  • Mechanisms of chromosome pairing in meiosis
  • The chromosomal basis of heredity
  • Aneuploidy : when too much or too little counts
  • Uniparental disomy
  • Partial aneuploidies
  • The female biological clock
  • 7. The odd couple: how the X and Y chromosomes break the rules
  • Passing the X and Y chromosomes between generations
  • How humans cope with the difference in number of sex chromosomes between males and females
  • How X inactivation works
  • Skewed X inactivation : when most cells inactivate the same X
  • Genes that escape X-inactivation
  • Reactivation of the inactive X chromosome in the female germline
  • X chromosome inactivation during male meiosis
  • X inactivation and the phenotypes of sex chromosome aneuploidy
  • The structure of the human Y chromosome
  • X-linked recessive inheritance
  • X-linked dominant inheritance
  • IV. How genes contribute to complex traits
  • 8. Sex determination: how genes determine a developmental choice
  • Sex as a complex developmental characteristic
  • What do the X and Y chromosomes have to do with sex?
  • SRY on the Y : the genetic determinant of male sexual differentiation
  • The role of hormones in early development
  • Androgen receptor on the X : another step in the sexual differentiation pathway
  • Genetics of gender identification
  • Genetics o sexual orientation
  • 9. Complexity: how traits can result from combinations of factors
  • Digenic diallelic inheritance
  • Digenic triallelic inheritance
  • Multifactorial inheritance
  • Quantitative traits
  • Additive effects and thresholds
  • Is it genetic?
  • Genes and environment : inducible traits
  • Genes and environment : infectious disease
  • Phenocopies
  • Genotypic compatibility : whose genome matters?
  • Phenotypic heterogeneity : one gene, many traits
  • Genotypic and phenotypic heterogeneity
  • Variable expressivity
  • Phenotypic modifiers
  • Biochemical pathways underlying complexity
  • Behavioral genetics
  • Genes expression : another level of complexity
  • 10. The multiple-hit hypothesis: how genes play a role in cancer
  • The war on cancer
  • Cancer as a defect in regulation of the cell cycle
  • Cancer as a genetic disease
  • Cancer and the environment
  • Tumor suppressor genes and the two-hit hypothesis
  • Cell-type specificity of tumor suppressor gene defects
  • The multi-hit hypothesis
  • The activation of proto-oncogenes and the role of oncogenes in promoting cancer
  • Defects in DNA repair
  • Personalized medicine
  • Cancer biomarkers
  • V. How genes are found
  • 11. The gene hunt : how genetic maps are built and used
  • What is a genetic map?
  • What is a genetic marker?
  • Finding genes before there were maps
  • Defining the thing to be mapped
  • Recombination as a measure of genetic distance
  • Physical maps and physical distances
  • How did they build genetic maps?
  • After the map : what comes next?
  • 12. The human genome: how the sequence enables genome-wide studies
  • The Human Genome Project
  • The human genome sequence
  • The other genome projects
  • The genes in the human genome
  • Human genome variation
  • Genome-wide technologies
  • Genome-wide association
  • Allele sharing and sib pair analysis
  • Copy number variation and gene dosage
  • Whole genome sequencing
  • VI. How genes play a role in testing and treatment
  • 13. Genetic testing and screening: how genotyping can offer important insights
  • What is medical genetics?
  • Screening vs. testing
  • Preimplantation genetic screening
  • Prenatal diagnosis during the first trimester
  • Prenatal diagnosis during the second trimester
  • Amniocentesis and chorionic villus sampling
  • Analysis of fetal cells
  • Sex selection
  • Newborn screening
  • Adult genetic screening and testing
  • Ethical, legal and social issues
  • 14. Magic bullets: how gene-based therapies personalize medicine
  • Replacing a lost gene or function : the RPE65 story
  • Replacing a lost gene : ADA deficiency
  • Targeting downstream disease pathology
  • Suppressing the unwanted genotype : use of siRNAs and miRNAs
  • Gene supplement therapy : more of the same
  • Strategies for cancer therapy
  • Gene-based therapy instead of gene therapy
  • Delivering gene therapy
  • Do we have to treat the whole body?
  • What are the biggest problems with gene therapy?
  • So whom do we treat?
  • 15. Fears, faith, and fantasies: how the past and present shape the future of genomic medicine
  • Fears : a tale of eugenics
  • Faith : a tale of ethical, legal and social advances
  • Fantasies : a tale of our genetic future.

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