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 Bloom & 30 others Mark 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

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome 1 . 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 selection 2 - these include the major defensin (DEF) gene cluster 3,4 and MCPH1 5,6 , 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.

Original languageEnglish (US)
Pages (from-to)331-335
Number of pages5
JournalNature
Volume439
Issue number7074
DOIs
StatePublished - Jan 19 2006

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Chromosomes, Human, Pair 8
Human Chromosomes
DNA Sequence Analysis
Human Genome
Chromosomes
Hominidae
Genes
Genome
Defensins
Mutation Rate
Multigene Family
Innate Immunity
Nervous System
Mammals
Brain

Cite this

Nusbaum, C., Mikkelsen, T. S., Zody, M. C., Asakawa, S., Taudien, S., Garber, M., ... Nguyen, C. (2006). DNA sequence and analysis of human chromosome 8. Nature, 439(7074), 331-335. https://doi.org/10.1038/nature04406

DNA sequence and analysis of human chromosome 8. / 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; 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.

In: Nature, Vol. 439, No. 7074, 19.01.2006, p. 331-335.

Research output: Contribution to journalArticle

Nusbaum, C, Mikkelsen, TS, Zody, MC, Asakawa, S, Taudien, S, Garber, M, Kodira, CD, Schueler, MG, Shimizu, A, Whittaker, CA, Chang, JL, Cuomo, CA, Dewar, K, FitzGerald, MG, Yang, X, Allen, NR, Anderson, S, Asakawa, T, Blechschmidt, K, Bloom, T, Borowsky, ML, Butler, J, Cook, A, Corum, B, DeArellano, K, DeCaprio, D, Dooley, KT, Dorris, L, Engels, R, Glöckner, G, Hafez, N, Hagopian, DS, Hall, JL, Ishikawa, SK, Jaffe, DB, Kamat, A, Kudoh, J, Lehmann, R, Lokitsang, T, Macdonald, P, Major, JE, Matthews, CD, Mauceli, E, Menzel, U, Mihalev, AH, Minoshima, S, Murayama, Y, Naylor, JW, Nicol, R & Nguyen, C 2006, 'DNA sequence and analysis of human chromosome 8', Nature, vol. 439, no. 7074, pp. 331-335. https://doi.org/10.1038/nature04406
Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M et al. DNA sequence and analysis of human chromosome 8. Nature. 2006 Jan 19;439(7074):331-335. https://doi.org/10.1038/nature04406
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 ; 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. / DNA sequence and analysis of human chromosome 8. In: Nature. 2006 ; Vol. 439, No. 7074. pp. 331-335.
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abstract = "The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome 1 . 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 selection 2 - these include the major defensin (DEF) gene cluster 3,4 and MCPH1 5,6 , 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.",
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AU - Dooley, Kathleen T.

AU - Dorris, Lester

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