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 DeCaprio; Reinhard 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

doi:10.1038/nature03983

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

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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.

Original language	English (US)
Pages (from-to)	551-555
Number of pages	5
Journal	Nature
Volume	437
Issue number	7058
DOIs	https://doi.org/10.1038/nature03983
State	Published - Sep 22 2005
Externally published	Yes

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Nusbaum, C., Zody, M. C., Borowsky, M. L., Kamal, M., Kodira, C. D., Taylor, T. D., Whittaker, C. A., Chang, J. L., Cuomo, C. A., Dewar, K., FitzGerald, M. G., Yang, X., Abouelleil, A., Allen, N. R., Anderson, S., Bloom, T., Bugalter, B., Butler, J., Cook, A., ... Lander, E. S. (2005). DNA sequence and analysis of human chromosome 18. Nature, 437(7058), 551-555. https://doi.org/10.1038/nature03983

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

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title = "DNA sequence and analysis of human chromosome 18",

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.",

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

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T1 - DNA sequence and analysis of human chromosome 18

AU - Nusbaum, Chad

AU - Zody, Michael C.

AU - Borowsky, Mark L.

AU - Kamal, Michael

AU - Kodira, Chinnappa D.

AU - Taylor, Todd D.

AU - Whittaker, Charles A.

AU - Chang, Jean L.

AU - Cuomo, Christina A.

AU - Dewar, Ken

AU - FitzGerald, Michael G.

AU - Yang, Xiaoping

AU - Abouelleil, Amr

AU - Allen, Nicole R.

AU - Anderson, Scott

AU - Bloom, Toby

AU - Bugalter, Boris

AU - Butler, Jonathan

AU - Cook, April

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.

AU - Talamas, Jessica A.

AU - Topham, Kerri

AU - Totoki, Yasushi

AU - Toyoda, Atsushi

AU - Wain, Hester M.

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.

PY - 2005/9/22

Y1 - 2005/9/22

N2 - 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.

AB - 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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JO - Nature

JF - Nature

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DNA sequence and analysis of human chromosome 18

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