The DNA sequence of human chromosome 7

被引：205

作者：

Hillier, LW

Fulton, RS

Fulton, LA

Graves, TA

Pepin, KH

Wagner-McPherson, C

Layman, D

Maas, J

Jaeger, S

Walker, R

Wylie, K

Sekhon, M

Becker, MC

O'Laughlin, MD

Schaller, ME

Fewell, GA

Delehaunty, KD

Miner, TL

Nash, WE

Cordes, M

Du, H

Sun, H

Edwards, J

Bradshaw-Cordum, H

Ali, J

Andrews, S

Isak, A

VanBrunt, A

Nguyen, C

Du, FY

Lamar, B

Courtney, L

Kalicki, J

Ozersky, P

Bielicki, L

Scott, K

Holmes, A

Harkins, R

Harris, A

Strong, CM

Hou, SF

Tomlinson, C

Dauphin-Kohlberg, S

Kozlowicz-Reilly, A

Leonard, S

Rohlfing, T

Rock, SM

Tin-Wollam, AM

Abbott, A

Minx, P

机构：

[1] Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA

[2] Univ Washington, Genome Ctr, Seattle, WA 98195 USA

[3] Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA

[4] Washington Univ, Dept Comp Sci, St Louis, MO 63130 USA

[5] European Mol Biol Lab, D-69117 Heidelberg, Germany

[6] Case Western Reserve Univ, Sch Med, Ctr Computat Genome, Dept Genet, Cleveland, OH 44106 USA

[7] Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA

[8] Univ Hosp Cleveland, Cleveland, OH 44106 USA

[9] NHGRI, Genome Technol Branch, NIH, Bethesda, MD 20892 USA

[10] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[11] Washington Univ, Sch Med, Howard Hughes Med Inst, St Louis, MO 63110 USA

来源：

NATURE | 2003年 / 424卷 / 6945期

关键词：

D O I：

10.1038/nature01782

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：

Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

引用

页码：157 / U2

页数：9

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