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Pubmed ID :15772651
Publication Date : //

The DNA sequence of the human X chromosome.


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.

Authors : Ross Mark T , Grafham Darren V , Coffey Alison J , Scherer Steven , McLay Kirsten , Muzny Donna , Platzer Matthias , Howell Gareth R , Burrows Christine , Bird Christine P , Frankish Adam , Lovell Frances L , Howe Kevin L , Ashurst Jennifer L , Fulton Robert S , Sudbrak Ralf , Wen Gaiping , Jones Matthew C , Hurles Matthew E , Andrews T Daniel , Scott Carol E , Searle Stephen , Ramser Juliane , Whittaker Adam , Deadman Rebecca , Carter Nigel P , Hunt Sarah E , Chen Rui , Cree Andrew , Gunaratne Preethi , Havlak Paul , Hodgson Anne , Metzker Michael L , Richards Stephen , Scott Graham , Steffen David , Sodergren Erica , Wheeler David A , Worley Kim C , Ainscough Rachael , Ambrose Kerrie D , Ansari-Lari M Ali , Aradhya Swaroop , Ashwell Robert I S , Babbage Anne K , Bagguley Claire L , Ballabio Andrea , Banerjee Ruby , Barker Gary E , Barlow Karen F , Barrett Ian P , Bates Karen N , Beare David M , Beasley Helen , Beasley Oliver , Beck Alfred , Bethel Graeme , Blechschmidt Karin , Brady Nicola , Bray-Allen Sarah , Bridgeman Anne M , Brown Andrew J , Brown Mary J , Bonnin David , Bruford Elspeth A , Buhay Christian , Burch Paula , Burford Deborah , Burgess Joanne , Burrill Wayne , Burton John , Bye Jackie M , Carder Carol , Carrel Laura , Chako Joseph , Chapman Joanne C , Chavez Dean , Chen Ellson , Chen Guan , Chen Yuan , Chen Zhijian , Chinault Craig , Ciccodicola Alfredo , Clark Sue Y , Clarke Graham , Clee Chris M , Clegg Sheila , Clerc-Blankenburg Kerstin , Clifford Karen , Cobley Vicky , Cole Charlotte G , Conquer Jen S , Corby Nicole , Connor Richard E , David Robert , Davies Joy , Davis Clay , Davis John , Delgado Oliver , Deshazo Denise , Dhami Pawandeep , Ding Yan , Dinh Huyen , Dodsworth Steve , Draper Heather , Dugan-Rocha Shannon , Dunham Andrew , Dunn Matthew , Durbin K James , Dutta Ireena , Eades Tamsin , Ellwood Matthew , Emery-Cohen Alexandra , Errington Helen , Evans Kathryn L , Faulkner Louisa , Francis Fiona , Frankland John , Fraser Audrey E , Galgoczy Petra , Gilbert James , Gill Rachel , Glöckner Gernot , Gregory Simon G , Gribble Susan , Griffiths Coline , Grocock Russell , Gu Yanghong , Gwilliam Rhian , Hamilton Cerissa , Hart Elizabeth A , Hawes Alicia , Heath Paul D , Heitmann Katja , Hennig Steffen , Hernandez Judith , Hinzmann Bernd , Ho Sarah , Hoffs Michael , Howden Phillip J , Huckle Elizabeth J , Hume Jennifer , Hunt Paul J , Hunt Adrienne R , Isherwood Judith , Jacob Leni , Johnson David , Jones Sally , de Jong Pieter J , Joseph Shirin S , Keenan Stephen , Kelly Susan , Kershaw Joanne K , Khan Ziad , Kioschis Petra , Klages Sven , Knights Andrew J , Kosiura Anna , Kovar-Smith Christie , Laird Gavin K , Langford Cordelia , Lawlor Stephanie , Leversha Margaret , Lewis Lora , Liu Wen , Lloyd Christine , Lloyd David M , Loulseged Hermela , Loveland Jane E , Lovell Jamieson D , Lozado Ryan , Lu Jing , Lyne Rachael , Ma Jie , Maheshwari Manjula , Matthews Lucy H , McDowall Jennifer , McLaren Stuart , McMurray Amanda , Meidl Patrick , Meitinger Thomas , Milne Sarah , Miner George , Mistry Shailesh L , Morgan Margaret , Morris Sidney , Müller Ines , Mullikin James C , Nguyen Ngoc , Nordsiek Gabriele , Nyakatura Gerald , O'Dell Christopher N , Okwuonu Geoffery , Palmer Sophie , Pandian Richard , Parker David , Parrish Julia , Pasternak Shiran , Patel Dina , Pearce Alex V , Pearson Danita M , Pelan Sarah E , Perez Lesette , Porter Keith M , Ramsey Yvonne , Reichwald Kathrin , Rhodes Susan , Ridler Kerry A , Schlessinger David , Schueler Mary G , Sehra Harminder K , Shaw-Smith Charles , Shen Hua , Sheridan Elizabeth M , Shownkeen Ratna , Skuce Carl D , Smith Michelle L , Sotheran Elizabeth C , Steingruber Helen E , Steward Charles A , Storey Roy , Swann R Mark , Swarbreck David , Tabor Paul E , Taudien Stefan , Taylor Tineace , Teague Brian , Thomas Karen , Thorpe Andrea , Timms Kirsten , Tracey Alan , Trevanion Steve , Tromans Anthony C , d'Urso Michele , Verduzco Daniel , Villasana Donna , Waldron Lenee , Wall Melanie , Wang Qiaoyan , Warren James , Warry Georgina L , Wei Xuehong , West Anthony , Whitehead Siobhan L , Whiteley Mathew N , Wilkinson Jane E , Willey David L , Williams Gabrielle , Williams Leanne , Williamson Angela , Williamson Helen , Wilming Laurens , Woodmansey Rebecca L , Wray Paul W , Yen Jennifer , Zhang Jingkun , Zhou Jianling , Zoghbi Huda , Zorilla Sara , Buck David , Reinhardt Richard , Poustka Annemarie , Rosenthal André , Lehrach Hans , Meindl Alfons , Minx Patrick J , Hillier Ladeana W , Willard Huntington F , Wilson Richard K , Waterston Robert H , Rice Catherine M , Vaudin Mark , Coulson Alan , Nelson David L , Weinstock George , Sulston John E , Durbin Richard , Hubbard Tim , Gibbs Richard A , Beck Stephan , Rogers Jane , Bentley David R ,

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