DNA sequence and analysis of human chromosome 18

Chad Nusbaum, Michael C. Zody, Mark L. Borowsky, Michael Kamal, Chinnappa D. Kodira, Todd D. Taylor, Charles A. Whittaker, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Xiaoping Yang, Amr Abouelleil, Nicole R. Allen, Scott Anderson, Toby Bloom, Boris Bugalter, Jonathan Butler, April Cook, David DeCaprioReinhard Engels, Manuel Garber, Andreas Gnirke, Nabil Hafez, Jennifer L. Hall, Catherine Hosage Norman, Takehiko Itoh, David B. Jaffe, Yoko Kuroki, Jessica Lehoczky, Annie Lui, Pendexter Macdonald, Evan Mauceli, Tarjei S. Mikkelsen, Jerome W. Naylor, Robert Nicol, Cindy Nguyen, Hideki Noguchi, Sinéad B. O'Leary, Bruno Piqani, Cherylyn L. Smith, Jessica A. Talamas, Kerri Topham, Yasushi Totoki, Atsushi Toyoda, Hester M. Wain, Sarah K. Young, Qiandong Zeng, Andrew R. Zimmer, Asao Fujiyama, Masahira Hattori, Bruce W. Birren, Yoshiyuki Sakaki, Eric S. Lander

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.

Original languageEnglish
Pages (from-to)551-555
Number of pages5
JournalNature
Volume437
Issue number7058
DOIs
Publication statusPublished - 2005 Sep 22
Externally publishedYes

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Chromosomes, Human, Pair 18
Human Chromosomes
DNA Sequence Analysis
Chromosomes
Molecular Sequence Annotation
Inborn Genetic Diseases
Conserved Sequence
Trisomy
Aneuploidy
Human Genome
Genes
Mammals
Genome
Proteins

ASJC Scopus subject areas

  • General

Cite this

Nusbaum, C., Zody, M. C., Borowsky, M. L., Kamal, M., Kodira, C. D., Taylor, T. D., ... Lander, E. S. (2005). DNA sequence and analysis of human chromosome 18. Nature, 437(7058), 551-555. https://doi.org/10.1038/nature03983

DNA sequence and analysis of human chromosome 18. / Nusbaum, Chad; Zody, Michael C.; Borowsky, Mark L.; Kamal, Michael; Kodira, Chinnappa D.; Taylor, Todd D.; Whittaker, Charles A.; Chang, Jean L.; Cuomo, Christina A.; Dewar, Ken; FitzGerald, Michael G.; Yang, Xiaoping; Abouelleil, Amr; Allen, Nicole R.; Anderson, Scott; Bloom, Toby; Bugalter, Boris; Butler, Jonathan; Cook, April; DeCaprio, David; Engels, Reinhard; Garber, Manuel; Gnirke, Andreas; Hafez, Nabil; Hall, Jennifer L.; Norman, Catherine Hosage; Itoh, Takehiko; Jaffe, David B.; Kuroki, Yoko; Lehoczky, Jessica; Lui, Annie; Macdonald, Pendexter; Mauceli, Evan; Mikkelsen, Tarjei S.; Naylor, Jerome W.; Nicol, Robert; Nguyen, Cindy; Noguchi, Hideki; O'Leary, Sinéad B.; Piqani, Bruno; Smith, Cherylyn L.; Talamas, Jessica A.; Topham, Kerri; Totoki, Yasushi; Toyoda, Atsushi; Wain, Hester M.; Young, Sarah K.; Zeng, Qiandong; Zimmer, Andrew R.; Fujiyama, Asao; Hattori, Masahira; Birren, Bruce W.; Sakaki, Yoshiyuki; Lander, Eric S.

In: Nature, Vol. 437, No. 7058, 22.09.2005, p. 551-555.

Research output: Contribution to journalArticle

Nusbaum, C, Zody, MC, Borowsky, ML, Kamal, M, Kodira, CD, Taylor, TD, Whittaker, CA, Chang, JL, Cuomo, CA, Dewar, K, FitzGerald, MG, Yang, X, Abouelleil, A, Allen, NR, Anderson, S, Bloom, T, Bugalter, B, Butler, J, Cook, A, DeCaprio, D, Engels, R, Garber, M, Gnirke, A, Hafez, N, Hall, JL, Norman, CH, Itoh, T, Jaffe, DB, Kuroki, Y, Lehoczky, J, Lui, A, Macdonald, P, Mauceli, E, Mikkelsen, TS, Naylor, JW, Nicol, R, Nguyen, C, Noguchi, H, O'Leary, SB, Piqani, B, Smith, CL, Talamas, JA, Topham, K, Totoki, Y, Toyoda, A, Wain, HM, Young, SK, Zeng, Q, Zimmer, AR, Fujiyama, A, Hattori, M, Birren, BW, Sakaki, Y & Lander, ES 2005, 'DNA sequence and analysis of human chromosome 18', Nature, vol. 437, no. 7058, pp. 551-555. https://doi.org/10.1038/nature03983
Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD et al. DNA sequence and analysis of human chromosome 18. Nature. 2005 Sep 22;437(7058):551-555. https://doi.org/10.1038/nature03983
Nusbaum, Chad ; Zody, Michael C. ; Borowsky, Mark L. ; Kamal, Michael ; Kodira, Chinnappa D. ; Taylor, Todd D. ; Whittaker, Charles A. ; Chang, Jean L. ; Cuomo, Christina A. ; Dewar, Ken ; FitzGerald, Michael G. ; Yang, Xiaoping ; Abouelleil, Amr ; Allen, Nicole R. ; Anderson, Scott ; Bloom, Toby ; Bugalter, Boris ; Butler, Jonathan ; Cook, April ; DeCaprio, David ; Engels, Reinhard ; Garber, Manuel ; Gnirke, Andreas ; Hafez, Nabil ; Hall, Jennifer L. ; Norman, Catherine Hosage ; Itoh, Takehiko ; Jaffe, David B. ; Kuroki, Yoko ; Lehoczky, Jessica ; Lui, Annie ; Macdonald, Pendexter ; Mauceli, Evan ; Mikkelsen, Tarjei S. ; Naylor, Jerome W. ; Nicol, Robert ; Nguyen, Cindy ; Noguchi, Hideki ; O'Leary, Sinéad B. ; Piqani, Bruno ; Smith, Cherylyn L. ; Talamas, Jessica A. ; Topham, Kerri ; Totoki, Yasushi ; Toyoda, Atsushi ; Wain, Hester M. ; Young, Sarah K. ; Zeng, Qiandong ; Zimmer, Andrew R. ; Fujiyama, Asao ; Hattori, Masahira ; Birren, Bruce W. ; Sakaki, Yoshiyuki ; Lander, Eric S. / DNA sequence and analysis of human chromosome 18. In: Nature. 2005 ; Vol. 437, No. 7058. pp. 551-555.
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abstract = "Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.",
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AU - Allen, Nicole R.

AU - Anderson, Scott

AU - Bloom, Toby

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AU - DeCaprio, David

AU - Engels, Reinhard

AU - Garber, Manuel

AU - Gnirke, Andreas

AU - Hafez, Nabil

AU - Hall, Jennifer L.

AU - Norman, Catherine Hosage

AU - Itoh, Takehiko

AU - Jaffe, David B.

AU - Kuroki, Yoko

AU - Lehoczky, Jessica

AU - Lui, Annie

AU - Macdonald, Pendexter

AU - Mauceli, Evan

AU - Mikkelsen, Tarjei S.

AU - Naylor, Jerome W.

AU - Nicol, Robert

AU - Nguyen, Cindy

AU - Noguchi, Hideki

AU - O'Leary, Sinéad B.

AU - Piqani, Bruno

AU - Smith, Cherylyn L.

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AU - Young, Sarah K.

AU - Zeng, Qiandong

AU - Zimmer, Andrew R.

AU - Fujiyama, Asao

AU - Hattori, Masahira

AU - Birren, Bruce W.

AU - Sakaki, Yoshiyuki

AU - Lander, Eric S.

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