Scientific Publications

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

Publication TypeJournal Article
AuthorsZody, MC, Garber M., Adams DJ, Sharpe T., Harrow J., Lupski JR, Nicholson C., Searle SM, Wilming L., Young SK, Abouelleil A., Allen NR, Bi W., Bloom T., Borowsky ML, Bugalter BE, Butler J., Chang JL, Chen CK, Cook A., Corum B., Cuomo CA, de Jong PJ, DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham DV, Grocock R., Hafez N., Hagopian DS, Hart E., Norman CH, Humphray S., Jaffe DB, Jones M., Kamal M., Khodiyar VK, LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., MacDonald P., Major JE, Matthews L., Mauceli E., McCarroll SA, Mihalev AH, Mudge J., Nguyen C., Nicol R., O'Leary SB, Osoegawa K., Schwartz DC, Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker CA, Yang X., Zimmer AR, Bradley A., Hubbard T., Birren BW, Rogers J., Lander E. S., and Nusbaum C.
AbstractChromosome 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.
Year of Publication2006
Date Published (YYYY/MM/DD)2006/04/20
ISSN Number0028-0836