The human genome
Subtitle: a user's guide
By: Julia E. Richards, R. Scott Hawley
Contributors: Hawley, R. Scott; Hawley, R. Scott
Edition: 3rd ed.
Publisher: Elsevier Academic Press
Published: 2011
Place of publication: Amsterdam; Boston
Language: eng
Format: Paperback
Number of pages: 585
ISBN-13: 9780123334459
Subjects: Human genome; Human gene mapping; Human genetics
Notes: First ed. by R. Scott Hawley and Catherine A. Mori.
Table of contents: title: 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 --; title: 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 --; title: 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 --; title: 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.