DNA sequence and analysis of human chromosome 8.

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. A unique feature of the chromosome is a vast region of approximately 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.

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@article{Nusbaum2006DNASA, title={DNA sequence and analysis of human chromosome 8.}, author={Chad Nusbaum and Tarjei S. Mikkelsen and Michael C. Zody and Shuichi Asakawa and Stefan Taudien and Manuel Garber and Chinnappa D. Kodira and Mary G. Schueler and Atsushi Shimizu and Charles A. Whittaker and Jean L. Chang and Christina A Cuomo and Ken Dewar and Michael Fitzgerald and Xiaoping Yang and Nicole R Allen and Scott A. Anderson and Teruyo Asakawa and Karin Blechschmidt and Toby Bloom and Mark L. Borowsky and Jonathan A. Butler and April Cook and Benjamin Corum and Kurt DeArellano and David DeCaprio and Kathleen T Dooley and Lester Dorris and Reinhard Engels and Gernot Gl{\"{o}ckner and Nabil Hafez and Daniel S Hagopian and Jennifer Hall and Sabine Kazuko Ishikawa and David B. Jaffe and Asha Kamat and Jun Kudoh and R{\"{u}diger Lehmann and Tashi Lokitsang and Pendexter Macdonald and John E. Major and Charles D Matthews and Evan Mauceli and Uwe Menzel and Atanas H Mihalev and Shinsei Minoshima and Yuji Murayama and Jerome W Naylor and Robert Nicol and Cindy Nguyen and Sinead B. O'Leary and K O'neill and Stephen C. J. Parker and Andreas Polley and Christina K Raymond and Kathrin Reichwald and Joseph J. Rodriguez and Takashi Sasaki and M. Schilhabel and Roman Siddiqui and Cherylyn L Smith and Tam P. Sneddon and Jessica A. Talamas and Pema Tenzin and Kerri Topham and Vijay Venkataraman and Gaiping Wen and Satoru Yamazaki and Sarah Young and Qiandong Zeng and Andrew R Zimmer and Andr{\'e} Rosenthal and Bruce W. Birren and Matthias Platzer and Nobuyoshi Shimizu and Eric S. Lander}, journal={Nature}, year={2006}, volume={439 7074}, pages={331-5} }