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The DNA sequence of the human X chromosome.


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.

SUBMITTER: Ross MT 

PROVIDER: S-EPMC2665286 | biostudies-literature | 2005 Mar

REPOSITORIES: biostudies-literature

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The DNA sequence of the human X chromosome.

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

Nature 20050301 7031


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 di  ...[more]

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