DOI: 10.1038/nature04601

¤ OpenAccess: Bronze

This work has “Bronze” OA status. This means it is free to read on the publisher landing page, but without any identifiable license.

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

Michael C. Zody,Manuel Garber,Ted Sharpe,Sarah Young,Lee Rowen,Keith O'Neill,Charles A. Whittaker,Michael Kamal,Jean L. Chang,Christina A. Cuomo,Ken Dewar,Michael Fitzgerald,Chinnappa D. Kodira,Anup Madan,Shizhen Qin,Xiaoping Yang,Nissa Abbasi,Amr Abouelleil,Harindra Arachchi,Lida Baradarani,Brian Birditt,Scott Bloom,Toby Bloom,Mark 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 M. Johnson,Charlien Jones,Asha Kamat,Amardeep Kaur,Devin P. Locke,Anuradha Madan,Glen Munson,David B. Jaffe,Annie Lui,Pendexter Macdonald,Evan Mauceli,Jerome Naylor,Ryan Nesbitt,Robert Nicol,Sinéad B. O'Leary,Amber Ratcliffe,Steven D. Rounsley,Xinwei She,Katherine M. B. Sneddon,Sandra Stewart,Carrie Sougnez,Sabrina M. Stone,Kerri Topham,Dascena Vincent,Shunguang Wang,Andrew Zimmer,Bruce W. Birren,Leroy Hood,Eric S. Lander,Chad Nusbaum

Segmental duplication

Gene duplication

Genetics

2006

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 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.

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“Analysis of the DNA sequence and duplication history of human chromosome 15” is a paper by Michael C. Zody Manuel Garber Ted Sharpe Sarah Young Lee Rowen Keith O'Neill Charles A. Whittaker Michael Kamal Jean L. Chang Christina A. Cuomo Ken Dewar Michael Fitzgerald Chinnappa D. Kodira Anup Madan Shizhen Qin Xiaoping Yang Nissa Abbasi Amr Abouelleil Harindra Arachchi Lida Baradarani Brian Birditt Scott Bloom Toby Bloom Mark 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 M. Johnson Charlien Jones Asha Kamat Amardeep Kaur Devin P. Locke Anuradha Madan Glen Munson David B. Jaffe Annie Lui Pendexter Macdonald Evan Mauceli Jerome Naylor Ryan Nesbitt Robert Nicol Sinéad B. O'Leary Amber Ratcliffe Steven D. Rounsley Xinwei She Katherine M. B. Sneddon Sandra Stewart Carrie Sougnez Sabrina M. Stone Kerri Topham Dascena Vincent Shunguang Wang Andrew Zimmer Bruce W. Birren Leroy Hood Eric S. Lander Chad Nusbaum published in 2006. It has an Open Access status of “bronze”. You can read and download a PDF Full Text of this paper here.