The Human Genome Project: Genes on Human Chromosome 17 The location of genes is designated by an established labeling system for chromosomes. Here is a drawing of human chromosome 17 showing its characteristic major banding pattern as it appears after staining. By convention, chromosomes are drawn with the short arm on the top labeled p (for petit) and the long arm on the bottom labeled q. To indicate the location of a gene on a particular chromosome, the chromosome number is followed by p or q and then a number that represents the band and sub-band. For example, 17p13.3 designates the p arm of chromosome 17, band 13, sub-band 3. In some cases only an approximate location is known so a range of numbers is given. 388 genes have been identified on human chromosome 17. The general locations of a few of these genes are shown using their standard abbreviations. Let's review the gene's exact location and a brief description of the gene's function. The gene RP13 is located at 17p13.3, and is one of several genes that affect eye development. Patients with alterations in this gene can experience a progressive visual loss with onset of night blindness between 4 and 10 years of age. The gene TP53 is located at 17p13.1. The protein encoded by this gene appears to act as the gatekeeper for the cell-cycle control system that regulates cell growth and division. Consequently, individuals with defects in this protein have an increased risk for many types of cancer. The GLUT4 gene is located at 17p13. The protein encoded by this gene is one of a family of related proteins that transports glucose into cells by facilitated diffusion. In mice, this gene is absolutely essential for sustained growth and expected longevity. The gene BLMH is located at 17q11.2, and the gene encodes an enzyme. The only known function of the enzyme encoded in this gene is the inactivation of a protein (BLM) that's toxic to the lungs. Another form of this enzyme is suspected of being involved in the development of Alzheimer's disease. The gene SLC6A4 is located at 17q11.1 to q12. There is some correlation between the alteration of this gene and personality traits, especially anxiety and depression. Recent work suggests that other changes in this gene may contribute to panic disorder. The gene KRTHA1 is located at 17q12 to q21. This region of the chromosome has a cluster of genes that encode the hard proteins, which are involved in the formation of hair and nails. The gene Gastrin is located at 17q21. Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid (HCl) by the stomach. The gene GH1 is located at 17q22 to q24. Genetic engineering has been used to clone this growth hormone gene, which has enabled the production of growth hormone used in the treatment of pituitary dwarfism. This gene, DCP1, located at 17q23, codes for an enzyme that plays an important role in blood pressure regulation. This gene, MPO, located at 17q23.1, encodes an enzyme that is found in white blood cells and increases the ability of these cells to kill microorganisms. Individuals who do not make this enzyme are more susceptible to various Candida (yeast) infections. The information in this video represents only a small fraction of what's currently known about the human genome. Most of the information presented here was gleaned from the Online Mendelian Inheritance in Man website maintained by the National Library of Medicine. For more information or to explore other chromosomes you can start at the site http://www.ncbi.nlm.nih.gov/omim.
Table of contents
- 1. Introduction to Biology2h 40m
- 2. Chemistry3h 40m
- 3. Water1h 26m
- 4. Biomolecules2h 23m
- 5. Cell Components2h 26m
- 6. The Membrane2h 31m
- 7. Energy and Metabolism2h 0m
- 8. Respiration2h 40m
- 9. Photosynthesis2h 49m
- 10. Cell Signaling59m
- 11. Cell Division2h 47m
- 12. Meiosis2h 0m
- 13. Mendelian Genetics4h 41m
- Introduction to Mendel's Experiments7m
- Genotype vs. Phenotype17m
- Punnett Squares13m
- Mendel's Experiments26m
- Mendel's Laws18m
- Monohybrid Crosses16m
- Test Crosses14m
- Dihybrid Crosses20m
- Punnett Square Probability26m
- Incomplete Dominance vs. Codominance20m
- Epistasis7m
- Non-Mendelian Genetics12m
- Pedigrees6m
- Autosomal Inheritance21m
- Sex-Linked Inheritance43m
- X-Inactivation9m
- 14. DNA Synthesis2h 27m
- 15. Gene Expression3h 20m
- 16. Regulation of Expression3h 31m
- Introduction to Regulation of Gene Expression13m
- Prokaryotic Gene Regulation via Operons27m
- The Lac Operon21m
- Glucose's Impact on Lac Operon25m
- The Trp Operon20m
- Review of the Lac Operon & Trp Operon11m
- Introduction to Eukaryotic Gene Regulation9m
- Eukaryotic Chromatin Modifications16m
- Eukaryotic Transcriptional Control22m
- Eukaryotic Post-Transcriptional Regulation28m
- Eukaryotic Post-Translational Regulation13m
- 17. Viruses37m
- 18. Biotechnology2h 58m
- 19. Genomics17m
- 20. Development1h 5m
- 21. Evolution3h 1m
- 22. Evolution of Populations3h 52m
- 23. Speciation1h 37m
- 24. History of Life on Earth2h 6m
- 25. Phylogeny2h 31m
- 26. Prokaryotes4h 59m
- 27. Protists1h 12m
- 28. Plants1h 22m
- 29. Fungi36m
- 30. Overview of Animals34m
- 31. Invertebrates1h 2m
- 32. Vertebrates50m
- 33. Plant Anatomy1h 3m
- 34. Vascular Plant Transport2m
- 35. Soil37m
- 36. Plant Reproduction47m
- 37. Plant Sensation and Response1h 9m
- 38. Animal Form and Function1h 19m
- 39. Digestive System10m
- 40. Circulatory System1h 57m
- 41. Immune System1h 12m
- 42. Osmoregulation and Excretion50m
- 43. Endocrine System4m
- 44. Animal Reproduction2m
- 45. Nervous System55m
- 46. Sensory Systems46m
- 47. Muscle Systems23m
- 48. Ecology3h 11m
- Introduction to Ecology20m
- Biogeography14m
- Earth's Climate Patterns50m
- Introduction to Terrestrial Biomes10m
- Terrestrial Biomes: Near Equator13m
- Terrestrial Biomes: Temperate Regions10m
- Terrestrial Biomes: Northern Regions15m
- Introduction to Aquatic Biomes27m
- Freshwater Aquatic Biomes14m
- Marine Aquatic Biomes13m
- 49. Animal Behavior28m
- 50. Population Ecology3h 41m
- Introduction to Population Ecology28m
- Population Sampling Methods23m
- Life History12m
- Population Demography17m
- Factors Limiting Population Growth14m
- Introduction to Population Growth Models22m
- Linear Population Growth6m
- Exponential Population Growth29m
- Logistic Population Growth32m
- r/K Selection10m
- The Human Population22m
- 51. Community Ecology2h 46m
- Introduction to Community Ecology2m
- Introduction to Community Interactions9m
- Community Interactions: Competition (-/-)38m
- Community Interactions: Exploitation (+/-)23m
- Community Interactions: Mutualism (+/+) & Commensalism (+/0)9m
- Community Structure35m
- Community Dynamics26m
- Geographic Impact on Communities21m
- 52. Ecosystems2h 36m
- 53. Conservation Biology24m
19. Genomics
Genomes
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