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

2006; Nature Portfolio; Volume: 440; Issue: 7087 Linguagem: Inglês

10.1038/nature04689

1476-4687

Michael C. Zody, Manuel Garber, David J. Adams, Ted Sharpe, Jennifer Harrow, James R. Lupski, Christine Nicholson, S. Searle, Laurens Wilming, Sarah Young, Amr Abouelleil, Nicole R. Allen, Weimin Bi, Toby Bloom, Mark L. Borowsky, Boris Bugalter, Jonathan A. Butler, Jean L. Chang, Chao-Kung Chen, April Cook, Benjamin Corum, Christina A. Cuomo, Pieter J. de Jong, David DeCaprio, Ken Dewar, Michael G. FitzGerald, James Gilbert, Richard Gibson, Sante Gnerre, Steven Goldstein, Darren Grafham, Russell Grocock, Nabil Hafez, Daniel S. Hagopian, Elizabeth A. Hart, Catherine Hosage Norman, Sean Humphray, David B. Jaffe, Matthew C. Jones, Michael Kamal, Varsha Khodiyar, Kurt LaButti, Gavin K. Laird, Jessica A. Lehoczky, Xiaohong Liu, Tashi Lokyitsang, Jane Loveland, Annie Lui, Pendexter Macdonald, John E. Major, Lucy Matthews, Evan Mauceli, Steven A. McCarroll, Atanas H. Mihalev, Jonathan M. Mudge, Cindy M. Nguyen, Robert Nicol, Sinéad B. O'Leary, Kazutoyo Osoegawa, David C. Schwartz, Charles Shaw‐Smith, Paweł Stankiewicz, Charles A. Steward, David Swarbreck, Vijay Venkataraman, Charles A. Whittaker, Xiaoping Yang, Andrew Zimmer, Allan Bradley, Tim Hubbard, Bruce W. Birren, Jane Rogers, Eric S. Lander, Chad Nusbaum,

Genomics and Chromatin Dynamics

Work on the human genome has reached the stage where there are only a few more chromosomes for which detailed sequence analysis remains to be published. The analysis of chromosome 17 is published this week. In addition to a description of the chromosome and its contents, this paper describes its duplication structure, and its similarity to mouse chromosome 11. Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome1, 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 genome2,3. It is also enriched in segmental duplications, ranking third in density among the autosomes4. 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 evolution5,6, 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.