DNA sequence and analysis of human chromosome 8

Chad Nusbaum, Tarjei S. Mikkelsen, Michael C. Zody, Shuichi Asakawa, Stefan Taudien, Manuel Garber, Chinnappa D. Kodira, Mary G. Schueler, Atsushi Shimizu, Charles A. Whittaker, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Xiaoping Yang, Nicole R. Allen, Scott Anderson, Teruyo Asakawa, Karin Blechschmidt, Toby BloomMark L. Borowsky, Jonathan Butler, April Cook, Benjamin Corum, Kurt DeArellano, David DeCaprio, Kathleen T. Dooley, Lester Dorris, Reinhard Engels, Gernot Glöckner, Nabil Hafez, Daniel S. Hagopian, Jennifer L. Hall, Sabine K. Ishikawa, David B. Jaffe, Asha Kamat, Jun Kudoh, Rüdiger Lehmann, Tashi Lokitsang, Pendexter Macdonald, John E. Major, Charles D. Matthews, Evan Mauceli, Uwe Menzel, Atanas H. Mihalev, Shinsei Minoshima, Yuji Murayama, Jerome W. Naylor, Robert Nicol, Cindy Nguyen, Sinéad B. O'Leary, Keith O'Neill, Stephen C.J. Parker, Andreas Polley, Christina K. Raymond, Kathrin Reichwald, Joseph Rodriguez, Takashi Sasaki, Markus Schilhabel, Roman Siddiqui, Cherylyn L. Smith, Tam P. Sneddon, Jessica A. Talamas, Pema Tenzin, Kerri Topham, Vijay Venkataraman, Gaiping Wen, Satoru Yamazaki, Sarah K. Young, Qiandong Zeng, Andrew R. Zimmer, Andre Rosenthal, Bruce W. Birren, Matthias Platzer, Shimizu Nobuyoshi, Eric S. Lander

研究成果: Article査読

79 被引用数 (Scopus)

抄録

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome1. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of ∼15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection2 - these include the major defensin (DEF) gene cluster3,4 and MCPH15,6, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.

本文言語English
ページ(範囲)331-335
ページ数5
ジャーナルNature
439
7074
DOI
出版ステータスPublished - 2006 1 19

ASJC Scopus subject areas

  • General

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