Gene Expression as the Integration of Genomic and Epigenomic Signals The gene expression program of a cell encompasses the specific subset of the approximately 20,000 protein-coding genes in the genome…
Figure 3-4 A, General structure of a typical human gene. Individual labeled features are discussed in the text. B, Examples of three medically important human genes. Different mutations in the β-globin…
Figure 3-3 The pyrimidine uracil and the structure of a nucleotide in RNA. Note that the sugar ribose replaces the sugar deoxyribose of DNA. Compare with Figure 2-2. The informational relationships among…
References for Specific Topics Deininger P. Alu elements: know the SINES. Genome Biol. 2011;12:236. Frazer KA. Decoding the human genome. Genome Res. 2012;22:1599–1601. International Human Genome Sequencing Consortium. Initial sequencing…
Medical Relevance of Mitosis and Meiosis The biological significance of mitosis and meiosis lies in ensuring the constancy of chromosome number—and thus the integrity of the genome—from one cell to…
General References Green ED, Guyer MS, National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011;470:204–213. Lander ES. Initial impact of the…
Variation in the Human Genome With completion of the reference human genome sequence, much attention has turned to the discovery and cataloguing of variation in sequence among different individuals (including…
Genetics and Genomics in Medicine The Practice of Genetics The medical geneticist is usually a physician who works as part of a team of health care providers, including many other…
