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

共 67 条

[1] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[2] Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis [J].

Bailey, JA ;

Carrel, L ;

Chakravarti, A ;

Eichler, EE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (12) :6634-6639

[3]

Bateman A, 2004, NUCLEIC ACIDS RES, V32, pD138, DOI [10.1093/nar/gkp985, 10.1093/nar/gkr1065, 10.1093/nar/gkh121]

[4] The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X [J].

Bentley, DR ;

Deloukas, P ;

Dunham, A ;

French, L ;

Gregory, SG ;

Humphray, SJ ;

Mungall, AJ ;

Ross, MT ;

Carter, NP ;

Dunham, I ;

Scott, CE ;

Ashcroft, KJ ;

Atkinson, AL ;

Aubin, K ;

Beare, DM ;

Bethel, G ;

Brady, N ;

Brook, JC ;

Burford, DC ;

Burrill, WD ;

Burrows, C ;

Butler, AP ;

Carder, C ;

Catanese, JJ ;

Clee, CM ;

Clegg, SM ;

Cobley, V ;

Coffey, AJ ;

Cole, CG ;

Collins, JE ;

Conquer, JS ;

Cooper, RA ;

Culley, KM ;

Dawson, E ;

Dearden, FL ;

Durbin, RM ;

de Jong, PJ ;

Dhami, PD ;

Earthrowl, ME ;

Edwards, CA ;

Evans, RS ;

Gillson, CJ ;

Ghori, J ;

Green, L ;

Gwilliam, R ;

Halls, KS ;

Hammond, S ;

Harper, GL ;

Heathcott, RW ;

Holden, JL .

NATURE, 2001, 409 (6822) :942-943

[5]

Bourque G, 2002, GENOME RES, V12, P26

[6] A GENE FROM THE REGION OF THE HUMAN X-INACTIVATION CENTER IS EXPRESSED EXCLUSIVELY FROM THE INACTIVE X-CHROMOSOME [J].

BROWN, CJ ;

BALLABIO, A ;

RUPERT, JL ;

LAFRENIERE, RG ;

GROMPE, M ;

TONLORENZI, R ;

WILLARD, HF .

NATURE, 1991, 349 (6304) :38-44

[7] THE HUMAN XIST GENE - ANALYSIS OF A 17 KB INACTIVE X-SPECIFIC RNA THAT CONTAINS CONSERVED REPEATS AND IS HIGHLY LOCALIZED WITHIN THE NUCLEUS [J].

BROWN, CJ ;

HENDRICH, BD ;

RUPERT, JL ;

LAFRENIERE, RG ;

XING, Y ;

LAWRENCE, J ;

WILLARD, HF .

CELL, 1992, 71 (03) :527-542

[8] LAGAN and Multi-LAGAN: Efficient tools for large-scale multiple alignment of genomic DNA [J].

Brudno, M ;

Do, CB ;

Cooper, GM ;

Kim, MF ;

Davydov, E ;

Green, ED ;

Sidow, A ;

Batzoglou, S .

GENOME RESEARCH, 2003, 13 (04) :721-731

[9] Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence [J].

Cheung, J ;

Estivill, X ;

Khaja, R ;

MacDonald, JR ;

Lau, K ;

Tsui, LC ;

Scherer, SW .

GENOME BIOLOGY, 2003, 4 (04)

[10]

Chomez P, 2001, CANCER RES, V61, P5544

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