Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 325-337 |
| Number of pages | 13 |
| Journal | Nature |
| Volume | 434 |
| Issue number | 7031 |
| DOIs | |
| State | Published - Mar 17 2005 |
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In: Nature, Vol. 434, No. 7031, 17.03.2005, p. 325-337.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - The DNA sequence of the human X chromosome
AU - Ross, Mark T.
AU - Grafham, Darren V.
AU - Coffey, Alison J.
AU - Scherer, Steven
AU - McLay, Kirsten
AU - Muzny, Donna
AU - Platzer, Matthias
AU - Howell, Gareth R.
AU - Burrows, Christine
AU - Bird, Christine P.
AU - Prankish, Adam
AU - Lovell, Frances L.
AU - Howe, Kevin L.
AU - Ashurst, Jennifer L.
AU - Fulton, Robert S.
AU - Sudbrak, Ralf
AU - Wen, Gaiping
AU - Jones, Matthew C.
AU - Hurles, Matthew E.
AU - Andrews, T. Daniel
AU - Scott, Carol E.
AU - Searle, Stephen
AU - Ramser, Juliane
AU - Whittaker, Adam
AU - Deadman, Rebecca
AU - Carter, Nigel P.
AU - Hunt, Sarah E.
AU - Chen, Rui
AU - Cree, Andrew
AU - Gunaratne, Preethi
AU - Havlak, Paul
AU - Hodgson, Anne
AU - Metzker, Michael L.
AU - Richards, Stephen
AU - Scott, Graham
AU - Steffen, David
AU - Sodergren, Erica
AU - Wheeler, David A.
AU - Worley, Kim C.
AU - Alnscough, Rachael
AU - Ambrose, Kerrie D.
AU - Ansari-Lari, M. Ali
AU - Aradhya, Swaroop
AU - Ashwell, Robert I.S.
AU - Babbage, Anne K.
AU - Bagguley, Claire L.
AU - Ballabio, Andrea
AU - Banerjee, Ruby
AU - Barker, Gary E.
AU - Barlow, Karen F.
AU - Barrett, Ian P.
AU - Bates, Karen N.
AU - Beare, David M.
AU - Beasley, Helen
AU - Beasley, Oliver
AU - Beck, Alfred
AU - Bethel, Graeme
AU - Blechschmidt, Karin
AU - Brady, Nicola
AU - Bray-Allen, Sarah
AU - Bridgeman, Anne M.
AU - Brown, Andrew J.
AU - Brown, Mary J.
AU - Bonnin, David
AU - Bruford, Elspeth A.
AU - Buhay, Christian
AU - Burch, Paula
AU - Burford, Deborah
AU - Burgess, Joanne
AU - Burrill, Wayne
AU - Burton, John
AU - Bye, Jackie M.
AU - Carder, Carol
AU - Carrel, Laura
AU - Chako, Joseph
AU - Chapman, Joanne C.
AU - Chavez, Dean
AU - Chen, Ellson
AU - Chen, Guan
AU - Chen, Yuan
AU - Chen, Zhijian
AU - Chinault, Craig
AU - Ciccodicola, Alfredo
AU - Clark, Sue Y.
AU - Clarke, Graham
AU - Clee, Chris M.
AU - Clegg, Sheila
AU - Clerc-Blankenburg, Kerstin
AU - Clifford, Karen
AU - Cobley, Vicky
AU - Cole, Charlotte G.
AU - Conquer, Jen S.
AU - Corby, Nicole
AU - Connor, Richard E.
AU - David, Robert
AU - Davies, Joy
AU - Davis, Clay
AU - Davis, John
AU - Delgado, Oliver
AU - DeShazo, Denise
AU - Dhami, Pawandeep
AU - Ding, Yan
AU - Dinh, Huyen
AU - Dodsworth, Steve
AU - Draper, Heather
AU - Dugan-Rocha, Shannon
AU - Dunham, Andrew
AU - Dunn, Matthew
AU - Durbin, K. James
AU - Dutta, Ireena
AU - Eades, Tamsin
AU - Ellwood, Matthew
AU - Emery-Cohen, Alexandra
AU - Errington, Helen
AU - Evans, Kathryn L.
AU - Faulkner, Louisa
AU - Francis, Fiona
AU - Frankland, John
AU - Fraser, Audrey E.
AU - Galgoczy, Petra
AU - Gilbert, James
AU - Gill, Rachel
AU - Glöckner, Gernot
AU - Gregory, Simon G.
AU - Gribble, Susan
AU - Griffiths, Coline
AU - Grocock, Russell
AU - Gu, Yanghong
AU - Gwilliam, Rhian
AU - Hamilton, Cerissa
AU - Hart, Elizabeth A.
AU - Hawes, Alicia
AU - Heath, Paul D.
AU - Heitmann, Katja
AU - Hennig, Steffen
AU - Hernandez, Judith
AU - Hinzmann, Bernd
AU - Ho, Sarah
AU - Hoffs, Michael
AU - Howden, Phillip J.
AU - Huckle, Elizabeth J.
AU - Hume, Jennifer
AU - Hunt, Paul J.
AU - Hunt, Adrienne R.
AU - Isherwood, Judith
AU - Jacob, Leni
AU - Johnson, David
AU - Jones, Sally
AU - De Jong, Pieter J.
AU - Joseph, Shirin S.
AU - Keenan, Stephen
AU - Kelly, Susan
AU - Kershaw, Joanne K.
AU - Khan, Ziad
AU - Kloschis, Petra
AU - Klages, Sven
AU - Knights, Andrew J.
AU - Kosiura, Anna
AU - Kovar-Smith, Christie
AU - Laird, Gavin K.
AU - Langford, Cordelia
AU - Lawlor, Stephanie
AU - Leversha, Margaret
AU - Lewis, Lora
AU - Liu, Wen
AU - Lloyd, Christine
AU - Lloyd, David M.
AU - Loulseged, Hermela
AU - Loveland, Jane E.
AU - Lovell, Jamieson D.
AU - Lozado, Ryan
AU - Lu, Jing
AU - Lyne, Rachael
AU - Ma, Jie
AU - Maheshwari, Manjula
AU - Matthews, Lucy H.
AU - McDowall, Jennifer
AU - McLaren, Stuart
AU - McMurray, Amanda
AU - Meidl, Patrick
AU - Meitinger, Thomas
AU - Milne, Sarah
AU - Miner, George
AU - Mistry, Shailesh L.
AU - Morgan, Margaret
AU - Morris, Sidney
AU - Müller, Ines
AU - Mullikin, James C.
AU - Nguyen, Ngoc
AU - Nordsiek, Gabriele
AU - Nyakatura, Gerald
AU - O'Dell, Christopher N.
AU - Okwuonu, Geoffery
AU - Palmer, Sophie
AU - Pandian, Richard
AU - Parker, David
AU - Parrish, Julia
AU - Pasternak, Shiran
AU - Patel, Dina
AU - Pearce, Alex V.
AU - Pearson, Danita M.
AU - Pelan, Sarah E.
AU - Perez, Lesette
AU - Porter, Keith M.
AU - Ramsey, Yvonne
AU - Reichwald, Kathrin
AU - Rhodes, Susan
AU - Ridler, Kerry A.
AU - Schlessinger, David
AU - Schueler, Mary G.
AU - Sehra, Harminder K.
AU - Shaw-Smith, Charles
AU - Shen, Hua
AU - Sheridan, Elizabeth M.
AU - Shownkeen, Ratna
AU - Skuce, Carl D.
AU - Smith, Michelle L.
AU - Sotheran, Elizabeth C.
AU - Steingruber, Helen E.
AU - Steward, Charles A.
AU - Storey, Roy
AU - Swann, R. Mark
AU - Swarbreck, David
AU - Tabor, Paul E.
AU - Taudien, Stefan
AU - Taylor, Tineace
AU - Teague, Brian
AU - Thomas, Karen
AU - Thorpe, Andrea
AU - Timms, Kirsten
AU - Tracey, Alan
AU - Trevanion, Steve
AU - Tromans, Anthony C.
AU - D'Urso, Michele
AU - Verduzco, Daniel
AU - Villasana, Donna
AU - Waldron, Lenee
AU - Wall, Melanie
AU - Wang, Qiaoyan
AU - Warren, James
AU - Warry, Georgina L.
AU - Wei, Xuehong
AU - West, Anthony
AU - Whitehead, Siobhan L.
AU - Whiteley, Mathew N.
AU - Wilkinson, Jane E.
AU - Willey, David L.
AU - Williams, Gabrielle
AU - Williams, Leanne
AU - Williamson, Angela
AU - Williamson, Helen
AU - Wilming, Laurens
AU - Woodmansey, Rebecca L.
AU - Wray, Paul W.
AU - Yen, Jennifer
AU - Zhang, Jingkun
AU - Zhou, Jianling
AU - Zoghbi, Huda
AU - Zorilla, Sara
AU - Buck, David
AU - Reinhardt, Richard
AU - Poustka, Annemarie
AU - Rosenthal, André
AU - Lehrach, Hans
AU - Meindl, Alfons
AU - Minx, Patrick J.
AU - Hillier, La Deana W.
AU - Willard, Huntington F.
AU - Wilson, Richard K.
AU - Waterston, Robert H.
AU - Rice, Catherine M.
AU - Vaudin, Mark
AU - Coulson, Alan
AU - Nelson, David L.
AU - Weinstock, George
AU - Sulston, John E.
AU - Durbin, Richard
AU - Hubbard, Tim
AU - Gibbs, Richard A.
AU - Beck, Stephan
AU - Rogers, Jane
AU - Bentley, David R.
N1 - Funding Information: Acknowledgements We thank the Washington University Genome Sequencing Center for access to chicken and chimpanzee genome sequence data before publication; the Broad Institute for access to dog and chimpanzee genome sequence data before publication, for T. nigroviridis genome data, and for fosmid end-sequence data and clones; members of the Sanger Institute zebrafish genome project; the mouse, rat and F. rubripes sequencing consortia; Genoscope for T. nigroviridis genome data; the Ensembl, UCSC, EMBL and GenBank database groups; G. Schuler for information on sequence overlaps; T. Furey for information on RefSeq RNA coverage; D. Jaffe for data on fosmid end-sequence matches; D. Vetrie, E. Kendall, D. Stephan, J. Trent, A. P. Monaco, J. Chelly, D. Thiselton, A. Hardcastle, G. Rappold and the Resource Centre of the German Human Genome Project (RZPD) for the provision of clones and mapping data; the HUGO Gene Nomenclature Committee (S. Povey (chair), M. W. Wright, M. J. Lush, R. C. Lovering, V. K. Khodiyar, H. M. Wain and C. C. Talbot Jr) for assigning official gene symbols; C. Rees for assistance with the manuscript; C. Tyler-Smith for critical reading of the manuscript; and the Wellcome Trust, the NHGRI, and the Ministry of Education and Research (Germany) for financial support.
PY - 2005/3/17
Y1 - 2005/3/17
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=15244363491&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=15244363491&partnerID=8YFLogxK
U2 - 10.1038/nature03440
DO - 10.1038/nature03440
M3 - Article
C2 - 15772651
AN - SCOPUS:15244363491
SN - 0028-0836
VL - 434
SP - 325
EP - 337
JO - Nature
JF - Nature
IS - 7031
ER -