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

[41] Physical and genetic mapping of the human X chromosome centromere: Repression of recombination [J].

Mahtani, MM ;

Willard, HF .

GENOME RESEARCH, 1998, 8 (02) :100-110

[42] A physical map of the human genome [J].

McPherson, JD ;

Marra, M ;

Hillier, L ;

Waterston, RH ;

Chinwalla, A ;

Wallis, J ;

Sekhon, M ;

Wylie, K ;

Mardis, ER ;

Wilson, RK ;

Fulton, R ;

Kucaba, TA ;

Wagner-McPherson, C ;

Barbazuk, WB ;

Gregory, SG ;

Humphray, SJ ;

French, L ;

Evans, RS ;

Bethel, G ;

Whittaker, A ;

Holden, JL ;

McCann, OT ;

Dunham, A ;

Soderlund, C ;

Scott, CE ;

Bentley, DR ;

Schuler, G ;

Chen, HC ;

Jang, WH ;

Green, ED ;

Idol, JR ;

Maduro, VVB ;

Montgomery, KT ;

Lee, E ;

Miller, A ;

Emerling, S ;

Kucherlapati, R ;

Gibbs, R ;

Scherer, S ;

Gorrell, JH ;

Sodergren, E ;

Clerc-Blankenburg, K ;

Tabor, P ;

Naylor, S ;

Garcia, D ;

de Jong, PJ ;

Catanese, JJ ;

Nowak, N ;

Osoegawa, K ;

Qin, SZ .

NATURE, 2001, 409 (6822) :934-941

[43] Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart:: Implications for X inactivation [J].

Migeon, BR ;

Chowdhury, AK ;

Dunston, JA ;

McIntosh, I .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :951-960

[44] ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE [J].

MONACO, AP ;

NEVE, RL ;

COLLETTIFEENER, C ;

BERTELSON, CJ ;

KURNIT, DM ;

KUNKEL, LM .

NATURE, 1986, 323 (6089) :646-650

[45] The DNA sequence and analysis of human chromosome 6 [J].

Mungall, AJ ;

Palmer, SA ;

Sims, SK ;

Edwards, CA ;

Ashurst, JL ;

Wilming, L ;

Jones, MC ;

Horton, R ;

Hunt, SE ;

Scott, CE ;

Gilbert, JGR ;

Clamp, ME ;

Bethel, G ;

Milne, S ;

Ainscough, R ;

Almeida, JP ;

Ambrose, KD ;

Andrews, TD ;

Ashwell, RIS ;

Babbage, AK ;

Bagguley, CL ;

Bailey, J ;

Banerjee, R ;

Barker, DJ ;

Barlow, KF ;

Bates, K ;

Beare, DM ;

Beasley, H ;

Beasley, O ;

Bird, CP ;

Blakey, S ;

Bray-Allen, S ;

Brook, J ;

Brown, AJ ;

Brown, JY ;

Burford, DC ;

Burrill, W ;

Burton, J ;

Carder, C ;

Carter, NP ;

Chapman, JC ;

Clark, SY ;

Clark, G ;

Clee, CM ;

Clegg, S ;

Cobley, V ;

Collier, RE ;

Collins, JE ;

Colman, LK ;

Corby, NR .

NATURE, 2003, 425 (6960) :805-U1

[46] SSAHA: A fast search method for large DNA databases [J].

Ning, ZM ;

Cox, AJ ;

Mullikin, JC .

GENOME RESEARCH, 2001, 11 (10) :1725-1729

[47]

Ohno S., 1967, SEX CHROMOSOMES SEX

[48] MECP2 mutation in male patients with non-specific X-linked mental retardation [J].

Orrico, A ;

Lam, CW ;

Galli, L ;

Dotti, MT ;

Hayek, G ;

Tong, SF ;

Poon, PMK ;

Zappella, M ;

Federico, A ;

Sorrentino, V .

FEBS LETTERS, 2000, 481 (03) :285-288

[49] OCCURRENCE OF A TRANSPOSITION FROM THE X-CHROMOSOME LONG ARM TO THE Y-CHROMOSOME SHORT ARM DURING HUMAN-EVOLUTION [J].

PAGE, DC ;

HARPER, ME ;

LOVE, J ;

BOTSTEIN, D .

NATURE, 1984, 311 (5982) :119-123

[50] Familial skewed X inactivation: A molecular trait associated with high spontaneous-abortion rate maps to Xq28 [J].

Pegoraro, E ;

Whitaker, J ;

MoweryRushton, P ;

Surti, U ;

Lanasa, M ;

Hoffman, EP .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) :160-170

← 1 2 3 4 5 6 7 →