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

32 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

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'DNA sequence and analysis of human chromosome 18'. Together they form a unique fingerprint.

  • Cite this

    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