Scientific Publications

Analysis of the DNA sequence and duplication history of human chromosome 15.

Publication TypeJournal Article
AuthorsZody, MC, Garber M., Sharpe T., Young SK, Rowen L., O'Neill K., Whittaker CA, Kamal M., Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Kodira CD, Madan A., Qin S., Yang X., Abbasi N., Abouelleil A., Arachchi HM, Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky ML, Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L 3rd, Dors M., Eichler EE, Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall JL, Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke DP, Madan A., Munson G., Jaffe DB, Lui A., MacDonald P., Mauceli E., Naylor JW, Nesbitt R., Nicol R., O'Leary SB, Ratcliffe A., Rounsley S., She X., Sneddon KM, Stewart S., Sougnez C., Stone SM, Topham K., Vincent D., Wang S., Zimmer AR, Birren BW, Hood L., Lander E. S., and Nusbaum C.
AbstractHere we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.
Year of Publication2006
JournalNature
Volume440
Issue7084
Pages671-5
Date Published (YYYY/MM/DD)2006/03/30
ISSN Number0028-0836
DOI10.1038/nature04601
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/16572171?dopt=Abstract