학술논문
DNA sequence and analysis of human chromosome 8
Document Type
Academic Journal
Author
Nusbaum, Chad; Mikkelsen, Tarjei S.; Zody, Michael C.; Asakawa, Shuichi; Taudien, Stefan; Garber, Manuel; Kodira, Chinnappa D.; Schueler, Mary G.; Shimizu, Atsushi; Whittaker, Charles A.; Chang, Jean L.; Cuomo, Christina A.; Dewar, Ken; FitzGerald, Michael G.; Yang, Xiaoping; Allen, Nicole R.; Anderson, Scott; Asakawa, Teruyo; Blechschmidt, Karin; Bloom, Toby; Borowsky, Mark L.; Butler, Jonathan; Cook, April; Corum, Benjamin; DeArellano, Kurt; DeCaprio, David; Dooley, Kathleen T.; Dorris, Lester, III; Engels, Reinhard; Glöckner, Gernot; Hafez, Nabil; Hagopian, Daniel S.; Hall, Jennifer L.; Ishikawa, Sabine K.; Jaffe, David B.; Kamat, Asha; Kudoh, Jun; Lehmann, Rüdiger; Lokitsang, Tashi; Macdonald, Pendexter; Major, John E.; Matthews, Charles D.; Mauceli, Evan; Menzel, Uwe; Mihalev, Atanas H.; Minoshima, Shinsei; Murayama, Yuji; Naylor, Jerome W.; Nicol, Robert; Nguyen, Cindy; O'Leary, Sinéad B.; O'Neill, Keith; Parker, Stephen C. J.; Polley, Andreas; Raymond, Christina K.; Reichwald, Kathrin; Rodriguez, Joseph; Sasaki, Takashi; Schilhabel, Markus; Siddiqui, Roman; Smith, Cherylyn L; Sneddon, Tam P.; Talamas, Jessica A.; Tenzin, Pema; Topham, Kerri; Venkataraman, Vijay; Wen, Gaiping; Yamazaki, Satoru; Young, Sarah K.; Zeng, Qiandong; Zimmer, Andrew R.; Rosenthal, Andre; Birren, Bruce W.; Platzer, Matthias; Shimizu, Nobuyoshi; Lander, Eric S.
Source
Nature. Jan 19, 2006 439(7074):331-335
Subject
Language
English
ISSN
0028-0836
Abstract
The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. 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. Aunique 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 selection-these include the major defensin (DEF) gene cluster and MCPH1, 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.