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
Broad Institute of MIT and Harvard, 7 Cambridge Center, Massachusetts 02142, USA.
Nature. 2006 Apr 20;440(7087):1045-9. 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.
17号染色体在许多方面在人类染色体中都很独特。它是最大的人类常染色体，仅与一条小鼠染色体具有直系同源性，完全定位于小鼠11号染色体的远端一半。17号染色体富含蛋白质编码基因，在基因组中基因密度第二高。它在节段性重复方面也很丰富，在常染色体中密度排名第三。在此我们报告人类17号染色体的完成序列，以及与首个完成的小鼠染色体——小鼠11号染色体的完成序列进行的结构比较。直系同源区域的比较揭示了显著差异。与哺乳动物进化中常见的典型模式不同，人类序列经历了广泛的染色体内重排，而小鼠序列则非常稳定。此外，尽管人类序列的节段性重复密度很高，但小鼠序列的密度却非常低。值得注意的是，这些节段性重复与结构重排的位点密切对应，表明了重复与重排之间的联系。对重复片段主要类别的研究为人类基因组中染色体特异性低拷贝重复序列扩展背后的动力学提供了见解。
