DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

• Published in: Nature 2006-04, Vol.440 (7087), p.1045-1049
• Main Authors: Zody, Michael C, Nusbaum, Chad, Garber, Manuel, Adams, David J, Sharpe, Ted, Harrow, Jennifer, Lupski, James R, Nicholson, Christine, Searle, Steven M, Wilming, Laurens, Young, Sarah K, Abouelleil, Amr, Allen, Nicole R, Bi, Weimin, Bloom, Toby, Borowsky, Mark L, Bugalter, Boris E, Butler, Jonathan, Chang, Jean L, Chen, Chao-Kung, Cook, April, Corum, Benjamin, Cuomo, Christina A, de Jong, Pieter J, DeCaprio, David, Dewar, Ken, FitzGerald, Michael, Gilbert, James, Gibson, Richard, Gnerre, Sante, Goldstein, Steven, Grafham, Darren V, Grocock, Russell, Hafez, Nabil, Hagopian, Daniel S, Hart, Elizabeth, Norman, Catherine Hosage, Humphray, Sean, Jaffe, David B, Jones, Matt, Kamal, Michael, Khodiyar, Varsha K, LaButti, Kurt, Laird, Gavin, Lehoczky, Jessica, Liu, Xiaohong, Lokyitsang, Tashi, Loveland, Jane, Lui, Annie, Macdonald, Pendexter, Major, John E, Matthews, Lucy, Mauceli, Evan, McCarroll, Steven A, Mihalev, Atanas H, Mudge, Jonathan, Nguyen, Cindy, Nicol, Robert, O'Leary, Sinéad B, Osoegawa, Kazutoyo, Schwartz, David C, Shaw-Smith, Charles, Stankiewicz, Pawel, Steward, Charles, Swarbreck, David, Venkataraman, Vijay, Whittaker, Charles A, Yang, Xiaoping, Zimmer, Andrew R, Bradley, Allan, Hubbard, Tim, Birren, Bruce W, Rogers, Jane, Lander, Eric S
• Format: Article
• Language: English
• Subjects: Analysis; Animals; Antibody diversity; Base Composition; Base sequence; Biologi; Biological and medical sciences; Biology; Cell and molecular biology; Cell- och molekylärbiologi; Chromatin. Chromosome; Chromosomes; Chromosomes, Human, Pair 17 - genetics; Density; Deoxyribonucleic acid; DNA; Evolution; Evolution, Molecular; Fundamental and applied biological sciences. Psychology; Gene Duplication; Genetic aspects; Genetics; Genetik; Genomics; Human chromosomes; Human evolution; Humanities and Social Sciences; Humans; letter; Long Interspersed Nucleotide Elements - genetics; Mammals; Mice; Molecular and cellular biology; Molecular genetics; multidisciplinary; NATURAL SCIENCES; NATURVETENSKAP; Rodents; Science; Sequence Analysis, DNA; Short Interspersed Nucleotide Elements - genetics; Synteny - genetics
• ISSN: 0028-0836; 1476-4687; 1476-4687; 1476-4679
• DOI: 10.1038/nature04689

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.