The DNA sequence of the human X chromosome

被引：784

作者：

Ross, MT

Grafham, DV

Coffey, AJ

Scherer, S

McLay, K

Muzny, D

Platzer, M

Howell, GR

Burrows, C

Bird, CP

Frankish, A

Lovell, FL

Howe, KL

Ashurst, JL

Fulton, RS

Sudbrak, R

Wen, GP

Jones, MC

Hurles, ME

Andrews, TD

Scott, CE

Searle, S

Ramser, J

Whittaker, A

Deadman, R

Carter, NP

Hunt, SE

Chen, R

Cree, A

Gunaratne, P

Havlak, P

Hodgson, A

Metzker, ML

Richards, S

Scott, G

Steffen, D

Sodergren, E

Wheeler, DA

Worley, KC

Ainscough, R

Ambrose, KD

Ansari-Lari, MA

Aradhya, S

Ashwell, RIS

Babbage, AK

Bagguley, CL

Ballabio, A

Banerjee, R

Barker, GE

Barlow, KF

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[2] Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Inst Mol Biotechnol, D-07745 Jena, Germany

[4] Washington Univ, Genome Sequencing Ctr, St Louis, MO 63108 USA

[5] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[6] Univ Kiel, Inst Clin Mol Biol, D-24105 Kiel, Germany

[7] Univ Munich, D-80336 Munich, Germany

[8] UCL, Galton Lab, HUGO Gen Nomenclature Comm, Dept Biol, London NW1 2HE, England

[9] Penn State Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA

[10] PE Appl Biosyst, Adv Ctr Genet Technol, Foster City, CA 94404 USA

[11] European Bioinformat Inst, Cambridge CB10 1SD, England

[12] Inst Genet & Biophys, I-80100 Naples, Italy

[13] Univ Edinburgh, Western Gen Hosp, Med Genet Sect, Edinburgh EH4 2XU, Midlothian, Scotland

[14] Univ Paris 05, INSERM, U567,Inst Cochin, Lab Genet & Physiopathol Retards Mentaux, F-75014 Paris, France

[15] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA

[16] Deutsch Krebsforschungszentrum, D-69120 Heidelberg, Germany

[17] GSF, Natl Res Ctr Environm Hlth, Inst Human Genet, D-85764 Neuherberg, Germany

[18] RZPD Resource Ctr Genome Res, D-14059 Berlin, Germany

[19] NHGRI, NIH, Bethesda, MD 20892 USA

[20] NIA, Genet Lab, Baltimore, MD 21224 USA

[21] Duke Univ, Inst Genome Sci & Policy, Durham, NC 27708 USA

来源：

NATURE | 2005年 / 434卷 / 7031期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/nature03440

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：

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

引用

页码：325 / 337

页数：13

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