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 |
|---|---|
| Pages (from-to) | 325-337 |
| Number of pages | 13 |
| Journal | Nature |
| Volume | 434 |
| Issue number | 7031 |
| DOIs | |
| Publication status | Published - 17 Mar 2005 |
Fingerprint
Dive into the research topics of 'The DNA sequence of the human X chromosome'. Together they form a unique fingerprint.Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver
}
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.
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
U2 - 10.1038/nature03440
DO - 10.1038/nature03440
M3 - Article
SN - 0028-0836
VL - 434
SP - 325
EP - 337
JO - Nature
JF - Nature
IS - 7031
ER -