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

Michael C. Zody, Manuel Garber, Ted Sharpe, Sarah K. Young, Lee Rowen, Keith O'Neill, Charles A. Whittaker, Michael Kamal, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Chinnappa D. Kodira, Anup Madan, Shizhen Qin, Xiaoping Yang, Nissa Abbasi, Amr Abouelleil, Harindra M. Arachchi, Lida BaradaraniBrian Birditt, Scott Bloom, Toby Bloom, Mark L. Borowsky, Jeremy Burke, Jonathan Butler, April Cook, Kurt DeArellano, David DeCaprio, Lester Dorris, Monica Dors, Evan E. Eichler, Reinhard Engels, Jessica Fahey, Peter Fleetwood, Cynthia Friedman, Gary Gearin, Jennifer L. Hall, Grace Hensley, Ericka Johnson, Charlien Jones, Asha Kamat, Amardeep Kaur, Devin P. Locke, Anuradha Madan, Glen Munson, David B. Jaffe, Annie Lui, Pendexter Macdonald, Evan Mauceli

Research output: Contribution to journalArticlepeer-review

51 Scopus citations

Abstract

Here 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 duplication1, 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 syndromes2,3. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity4. 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.

Original languageEnglish (US)
Pages (from-to)671-675
Number of pages5
JournalNature
Volume440
Issue number7084
DOIs
StatePublished - Mar 30 2006

Fingerprint Dive into the research topics of 'Analysis of the DNA sequence and duplication history of human chromosome 15'. Together they form a unique fingerprint.

Cite this