%0 Journal Article %J Nature %D 2005 %T The DNA sequence of the human X chromosome. %A Ross, Mark T %A Grafham, Darren V %A Coffey, Alison J %A Steven E Scherer %A McLay, Kirsten %A Donna M Muzny %A Platzer, Matthias %A Howell, Gareth R %A Burrows, Christine %A Bird, Christine P %A Frankish, Adam %A Lovell, Frances L %A Howe, Kevin L %A Ashurst, Jennifer L %A Fulton, Robert S %A Sudbrak, Ralf %A Wen, Gaiping %A Jones, Matthew C %A Hurles, Matthew E %A Andrews, T Daniel %A Scott, Carol E %A Searle, Stephen %A Ramser, Juliane %A Whittaker, Adam %A Deadman, Rebecca %A Carter, Nigel P %A Hunt, Sarah E %A Rui Chen %A Cree, Andrew %A Gunaratne, Preethi %A Havlak, Paul %A Hodgson, Anne %A Metzker, Michael L %A Stephen Richards %A Scott, Graham %A Steffen, David %A Sodergren, Erica %A David A Wheeler %A Kim C Worley %A Ainscough, Rachael %A Ambrose, Kerrie D %A Ansari-Lari, M Ali %A Aradhya, Swaroop %A Ashwell, Robert I S %A Babbage, Anne K %A Bagguley, Claire L %A Ballabio, Andrea %A Banerjee, Ruby %A Barker, Gary E %A Barlow, Karen F %A Barrett, Ian P %A Bates, Karen N %A Beare, David M %A Beasley, Helen %A Beasley, Oliver %A Beck, Alfred %A Bethel, Graeme %A Blechschmidt, Karin %A Brady, Nicola %A Bray-Allen, Sarah %A Bridgeman, Anne M %A Brown, Andrew J %A Brown, Mary J %A Bonnin, David %A Bruford, Elspeth A %A Buhay, Christian %A Burch, Paula %A Burford, Deborah %A Burgess, Joanne %A Burrill, Wayne %A Burton, John %A Bye, Jackie M %A Carder, Carol %A Carrel, Laura %A Chako, Joseph %A Chapman, Joanne C %A Chavez, Dean %A Chen, Ellson %A Chen, Guan %A Chen, Yuan %A Chen, Zhijian %A Chinault, Craig %A Ciccodicola, Alfredo %A Clark, Sue Y %A Clarke, Graham %A Clee, Chris M %A Clegg, Sheila %A Clerc-Blankenburg, Kerstin %A Clifford, Karen %A Cobley, Vicky %A Cole, Charlotte G %A Conquer, Jen S %A Corby, Nicole %A Connor, Richard E %A David, Robert %A Davies, Joy %A Davis, Clay %A Davis, John %A Delgado, Oliver %A Deshazo, Denise %A Dhami, Pawandeep %A Ding, Yan %A Dinh, Huyen %A Dodsworth, Steve %A Draper, Heather %A Dugan-Rocha, Shannon %A Dunham, Andrew %A Dunn, Matthew %A Durbin, K James %A Dutta, Ireena %A Eades, Tamsin %A Ellwood, Matthew %A Emery-Cohen, Alexandra %A Errington, Helen %A Evans, Kathryn L %A Faulkner, Louisa %A Francis, Fiona %A Frankland, John %A Fraser, Audrey E %A Galgoczy, Petra %A Gilbert, James %A Gill, Rachel %A Glöckner, Gernot %A Gregory, Simon G %A Gribble, Susan %A Griffiths, Coline %A Grocock, Russell %A Gu, Yanghong %A Gwilliam, Rhian %A Hamilton, Cerissa %A Hart, Elizabeth A %A Hawes, Alicia %A Heath, Paul D %A Heitmann, Katja %A Hennig, Steffen %A Hernandez, Judith %A Hinzmann, Bernd %A Ho, Sarah %A Hoffs, Michael %A Howden, Phillip J %A Huckle, Elizabeth J %A Hume, Jennifer %A Hunt, Paul J %A Hunt, Adrienne R %A Isherwood, Judith %A Jacob, Leni %A Johnson, David %A Jones, Sally %A De Jong, Pieter J %A Joseph, Shirin S %A Keenan, Stephen %A Kelly, Susan %A Kershaw, Joanne K %A Ziad Khan %A Kioschis, Petra %A Klages, Sven %A Knights, Andrew J %A Kosiura, Anna %A Kovar-Smith, Christie %A Laird, Gavin K %A Langford, Cordelia %A Lawlor, Stephanie %A Leversha, Margaret %A Lewis, Lora %A Liu, Wen %A Lloyd, Christine %A Lloyd, David M %A Loulseged, Hermela %A Loveland, Jane E %A Lovell, Jamieson D %A Lozado, Ryan %A Lu, Jing %A Lyne, Rachael %A Ma, Jie %A Maheshwari, Manjula %A Matthews, Lucy H %A McDowall, Jennifer %A McLaren, Stuart %A McMurray, Amanda %A Meidl, Patrick %A Meitinger, Thomas %A Milne, Sarah %A Miner, George %A Mistry, Shailesh L %A Morgan, Margaret %A Morris, Sidney %A Müller, Ines %A Mullikin, James C %A Nguyen, Ngoc %A Nordsiek, Gabriele %A Nyakatura, Gerald %A O'Dell, Christopher N %A Okwuonu, Geoffery %A Palmer, Sophie %A Pandian, Richard %A Parker, David %A Parrish, Julia %A Pasternak, Shiran %A Patel, Dina %A Pearce, Alex V %A Pearson, Danita M %A Pelan, Sarah E %A Perez, Lesette %A Porter, Keith M %A Ramsey, Yvonne %A Reichwald, Kathrin %A Rhodes, Susan %A Ridler, Kerry A %A Schlessinger, David %A Schueler, Mary G %A Sehra, Harminder K %A Shaw-Smith, Charles %A Shen, Hua %A Sheridan, Elizabeth M %A Shownkeen, Ratna %A Skuce, Carl D %A Smith, Michelle L %A Sotheran, Elizabeth C %A Steingruber, Helen E %A Steward, Charles A %A Storey, Roy %A Swann, R Mark %A Swarbreck, David %A Tabor, Paul E %A Taudien, Stefan %A Taylor, Tineace %A Teague, Brian %A Thomas, Karen %A Thorpe, Andrea %A Timms, Kirsten %A Tracey, Alan %A Trevanion, Steve %A Tromans, Anthony C %A d'Urso, Michele %A Verduzco, Daniel %A Villasana, Donna %A Waldron, Lenée %A Wall, Melanie %A Wang, Qiaoyan %A Warren, James %A Warry, Georgina L %A Wei, Xuehong %A West, Anthony %A Whitehead, Siobhan L %A Whiteley, Mathew N %A Wilkinson, Jane E %A Willey, David L %A Williams, Gabrielle %A Williams, Leanne %A Williamson, Angela %A Williamson, Helen %A Wilming, Laurens %A Woodmansey, Rebecca L %A Wray, Paul W %A Yen, Jennifer %A Zhang, Jingkun %A Zhou, Jianling %A Zoghbi, Huda %A Zorilla, Sara %A Buck, David %A Reinhardt, Richard %A Poustka, Annemarie %A Rosenthal, André %A Lehrach, Hans %A Meindl, Alfons %A Minx, Patrick J %A Hillier, LaDeana W %A Willard, Huntington F %A Wilson, Richard K %A Waterston, Robert H %A Rice, Catherine M %A Vaudin, Mark %A Coulson, Alan %A Nelson, David L %A Weinstock, George %A Sulston, John E %A Durbin, Richard %A Hubbard, Tim %A Richard A Gibbs %A Beck, Stephan %A Rogers, Jane %A Bentley, David R %K Animals %K Antigens, Neoplasm %K Centromere %K Chromosomes, Human, X %K Chromosomes, Human, Y %K Contig Mapping %K Crossing Over, Genetic %K Dosage Compensation, Genetic %K Evolution, Molecular %K Female %K Genetic Linkage %K Genetics, Medical %K Genomics %K Humans %K Male %K Polymorphism, Single Nucleotide %K Repetitive Sequences, Nucleic Acid %K RNA %K Sequence Analysis, DNA %K Sequence Homology, Nucleic Acid %K Testis %X

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.

%B Nature %V 434 %P 325-37 %8 2005 Mar 17 %G eng %N 7031 %1 https://www.ncbi.nlm.nih.gov/pubmed/15772651?dopt=Abstract %R 10.1038/nature03440