The DNA sequence of the human X chromosome.

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

Index: Nature 434(7031) , 325-37, (2005)

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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.