@article {309625, title = {The DNA sequence of the human X chromosome.}, journal = {Nature}, volume = {434}, year = {2005}, month = {2005 Mar 17}, pages = {325-37}, 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.

}, keywords = {Animals, Antigens, Neoplasm, Centromere, Chromosomes, Human, X, Chromosomes, Human, Y, Contig Mapping, Crossing Over, Genetic, Dosage Compensation, Genetic, Evolution, Molecular, Female, Genetic Linkage, Genetics, Medical, Genomics, Humans, Male, Polymorphism, Single Nucleotide, Repetitive Sequences, Nucleic Acid, RNA, Sequence Analysis, DNA, Sequence Homology, Nucleic Acid, Testis}, issn = {1476-4687}, doi = {10.1038/nature03440}, author = {Ross, Mark T and Grafham, Darren V and Coffey, Alison J and Scherer, Steven and McLay, Kirsten and Muzny, Donna and Platzer, Matthias and Howell, Gareth R and Burrows, Christine and Bird, Christine P and Frankish, Adam and Lovell, Frances L and Howe, Kevin L and Ashurst, Jennifer L and Fulton, Robert S and Sudbrak, Ralf and Wen, Gaiping and Jones, Matthew C and Hurles, Matthew E and Andrews, T Daniel and Scott, Carol E and Searle, Stephen and Ramser, Juliane and Whittaker, Adam and Deadman, Rebecca and Carter, Nigel P and Hunt, Sarah E and Chen, Rui and Cree, Andrew and Gunaratne, Preethi and Havlak, Paul and Hodgson, Anne and Metzker, Michael L and Richards, Stephen and Scott, Graham and Steffen, David and Sodergren, Erica and Wheeler, David A and Worley, Kim C and Ainscough, Rachael and Ambrose, Kerrie D and Ansari-Lari, M Ali and Aradhya, Swaroop and Ashwell, Robert I S and Babbage, Anne K and Bagguley, Claire L and Ballabio, Andrea and Banerjee, Ruby and Barker, Gary E and Barlow, Karen F and Barrett, Ian P and Bates, Karen N and Beare, David M and Beasley, Helen and Beasley, Oliver and Beck, Alfred and Bethel, Graeme and Blechschmidt, Karin and Brady, Nicola and Bray-Allen, Sarah and Bridgeman, Anne M and Brown, Andrew J and Brown, Mary J and Bonnin, David and Bruford, Elspeth A and Buhay, Christian and Burch, Paula and Burford, Deborah and Burgess, Joanne and Burrill, Wayne and Burton, John and Bye, Jackie M and Carder, Carol and Carrel, Laura and Chako, Joseph and Chapman, Joanne C and Chavez, Dean and Chen, Ellson and Chen, Guan and Chen, Yuan and Chen, Zhijian and Chinault, Craig and Ciccodicola, Alfredo and Clark, Sue Y and Clarke, Graham and Clee, Chris M and Clegg, Sheila and Clerc-Blankenburg, Kerstin and Clifford, Karen and Cobley, Vicky and Cole, Charlotte G and Conquer, Jen S and Corby, Nicole and Connor, Richard E and David, Robert and Davies, Joy and Davis, Clay and Davis, John and Delgado, Oliver and Deshazo, Denise and Dhami, Pawandeep and Ding, Yan and Dinh, Huyen and Dodsworth, Steve and Draper, Heather and Dugan-Rocha, Shannon and Dunham, Andrew and Dunn, Matthew and Durbin, K James and Dutta, Ireena and Eades, Tamsin and Ellwood, Matthew and Emery-Cohen, Alexandra and Errington, Helen and Evans, Kathryn L and Faulkner, Louisa and Francis, Fiona and Frankland, John and Fraser, Audrey E and Galgoczy, Petra and Gilbert, James and Gill, Rachel and Gl{\"o}ckner, Gernot and Gregory, Simon G and Gribble, Susan and Griffiths, Coline and Grocock, Russell and Gu, Yanghong and Gwilliam, Rhian and Hamilton, Cerissa and Hart, Elizabeth A and Hawes, Alicia and Heath, Paul D and Heitmann, Katja and Hennig, Steffen and Hernandez, Judith and Hinzmann, Bernd and Ho, Sarah and Hoffs, Michael and Howden, Phillip J and Huckle, Elizabeth J and Hume, Jennifer and Hunt, Paul J and Hunt, Adrienne R and Isherwood, Judith and Jacob, Leni and Johnson, David and Jones, Sally and de Jong, Pieter J and Joseph, Shirin S and Keenan, Stephen and Kelly, Susan and Kershaw, Joanne K and Khan, Ziad and Kioschis, Petra and Klages, Sven and Knights, Andrew J and Kosiura, Anna and Kovar-Smith, Christie and Laird, Gavin K and Langford, Cordelia and Lawlor, Stephanie and Leversha, Margaret and Lewis, Lora and Liu, Wen and Lloyd, Christine and Lloyd, David M and Loulseged, Hermela and Loveland, Jane E and Lovell, Jamieson D and Lozado, Ryan and Lu, Jing and Lyne, Rachael and Ma, Jie and Maheshwari, Manjula and Matthews, Lucy H and McDowall, Jennifer and McLaren, Stuart and McMurray, Amanda and Meidl, Patrick and Meitinger, Thomas and Milne, Sarah and Miner, George and Mistry, Shailesh L and Morgan, Margaret and Morris, Sidney and M{\"u}ller, Ines and Mullikin, James C and Nguyen, Ngoc and Nordsiek, Gabriele and Nyakatura, Gerald and O{\textquoteright}Dell, Christopher N and Okwuonu, Geoffery and Palmer, Sophie and Pandian, Richard and Parker, David and Parrish, Julia and Pasternak, Shiran and Patel, Dina and Pearce, Alex V and Pearson, Danita M and Pelan, Sarah E and Perez, Lesette and Porter, Keith M and Ramsey, Yvonne and Reichwald, Kathrin and Rhodes, Susan and Ridler, Kerry A and Schlessinger, David and Schueler, Mary G and Sehra, Harminder K and Shaw-Smith, Charles and Shen, Hua and Sheridan, Elizabeth M and Shownkeen, Ratna and Skuce, Carl D and Smith, Michelle L and Sotheran, Elizabeth C and Steingruber, Helen E and Steward, Charles A and Storey, Roy and Swann, R Mark and Swarbreck, David and Tabor, Paul E and Taudien, Stefan and Taylor, Tineace and Teague, Brian and Thomas, Karen and Thorpe, Andrea and Timms, Kirsten and Tracey, Alan and Trevanion, Steve and Tromans, Anthony C and d{\textquoteright}Urso, Michele and Verduzco, Daniel and Villasana, Donna and Waldron, Lenee and Wall, Melanie and Wang, Qiaoyan and Warren, James and Warry, Georgina L and Wei, Xuehong and West, Anthony and Whitehead, Siobhan L and Whiteley, Mathew N and Wilkinson, Jane E and Willey, David L and Williams, Gabrielle and Williams, Leanne and Williamson, Angela and Williamson, Helen and Wilming, Laurens and Woodmansey, Rebecca L and Wray, Paul W and Yen, Jennifer and Zhang, Jingkun and Zhou, Jianling and Zoghbi, Huda and Zorilla, Sara and Buck, David and Reinhardt, Richard and Poustka, Annemarie and Rosenthal, Andr{\'e} and Lehrach, Hans and Meindl, Alfons and Minx, Patrick J and Hillier, LaDeana W and Willard, Huntington F and Wilson, Richard K and Waterston, Robert H and Rice, Catherine M and Vaudin, Mark and Coulson, Alan and Nelson, David L and Weinstock, George and Sulston, John E and Durbin, Richard and Hubbard, Tim and Gibbs, Richard A and Beck, Stephan and Rogers, Jane and Bentley, David R} }