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Pubmed ID :16625196
Publication Date : //

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


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.

Authors : Zody Michael C , 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 , Nusbaum Chad ,

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