DNA sequence and analysis of human chromosome 18

被引:42
|
作者
Nusbaum, C
Zody, MC
Borowsky, ML
Kamal, M
Kodira, CD
Taylor, TD
Whittaker, CA
Chang, JL
Cuomo, CA
Dewar, K
FitzGerald, MG
Yang, XP
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, QD
Zimmer, AR
Fujiyama, A
机构
[1] MIT, Broad Inst, Cambridge, MA 02141 USA
[2] Harvard Univ, Cambridge, MA 02141 USA
[3] RIKEN, Genom Sci Ctr, Tsurumi Ku, Kanagawa 2300045, Japan
[4] Mitsubishi Res Inst Inc, Chiyoda Ku, Tokyo 1008141, Japan
[5] Univ Tokyo, Kashiwa, Chiba 2770882, Japan
[6] UCL, Galton Lab, HUGO Gene Nomenclature Comm, London NW1 2HE, England
[7] Natl Inst Informat, Chiyoda Ku, Tokyo 1018430, Japan
[8] Kitasato Univ, Kitsato Inst Life Sci, Kanagawa 2288555, Japan
关键词
D O I
10.1038/nature03983
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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(1). 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.
引用
收藏
页码:551 / 555
页数:5
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