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 and David R. Bentley
Additional contact information
Mark T. Ross: Wellcome Trust Genome Campus, Hinxton
Darren V. Grafham: Wellcome Trust Genome Campus, Hinxton
Alison J. Coffey: Wellcome Trust Genome Campus, Hinxton
Steven Scherer: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Kirsten McLay: Wellcome Trust Genome Campus, Hinxton
Donna Muzny: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Matthias Platzer: Genomanalyse, Institut für Molekulare Biotechnologie
Gareth R. Howell: Wellcome Trust Genome Campus, Hinxton
Christine Burrows: Wellcome Trust Genome Campus, Hinxton
Christine P. Bird: Wellcome Trust Genome Campus, Hinxton
Adam Frankish: Wellcome Trust Genome Campus, Hinxton
Frances L. Lovell: Wellcome Trust Genome Campus, Hinxton
Kevin L. Howe: Wellcome Trust Genome Campus, Hinxton
Jennifer L. Ashurst: Wellcome Trust Genome Campus, Hinxton
Robert S. Fulton: Washington University Genome Sequencing Center
Ralf Sudbrak: Max Planck Institute for Molecular Genetics
Gaiping Wen: Genomanalyse, Institut für Molekulare Biotechnologie
Matthew C. Jones: Wellcome Trust Genome Campus, Hinxton
Matthew E. Hurles: Wellcome Trust Genome Campus, Hinxton
T. Daniel Andrews: Wellcome Trust Genome Campus, Hinxton
Carol E. Scott: Wellcome Trust Genome Campus, Hinxton
Stephen Searle: Wellcome Trust Genome Campus, Hinxton
Juliane Ramser: Medizinische Genetik, Ludwig-Maximilian-Universität
Adam Whittaker: Wellcome Trust Genome Campus, Hinxton
Rebecca Deadman: Wellcome Trust Genome Campus, Hinxton
Nigel P. Carter: Wellcome Trust Genome Campus, Hinxton
Sarah E. Hunt: Wellcome Trust Genome Campus, Hinxton
Rui Chen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Andrew Cree: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Preethi Gunaratne: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Paul Havlak: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Anne Hodgson: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Michael L. Metzker: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Stephen Richards: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Graham Scott: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
David Steffen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Erica Sodergren: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
David A. Wheeler: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Kim C. Worley: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Rachael Ainscough: Wellcome Trust Genome Campus, Hinxton
Kerrie D. Ambrose: Wellcome Trust Genome Campus, Hinxton
M. Ali Ansari-Lari: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Swaroop Aradhya: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Robert I. S. Ashwell: Wellcome Trust Genome Campus, Hinxton
Anne K. Babbage: Wellcome Trust Genome Campus, Hinxton
Claire L. Bagguley: Wellcome Trust Genome Campus, Hinxton
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Ruby Banerjee: Wellcome Trust Genome Campus, Hinxton
Gary E. Barker: Wellcome Trust Genome Campus, Hinxton
Karen F. Barlow: Wellcome Trust Genome Campus, Hinxton
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Oliver Beasley: Wellcome Trust Genome Campus, Hinxton
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Sarah Bray-Allen: Wellcome Trust Genome Campus, Hinxton
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Mary J. Brown: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
David Bonnin: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Elspeth A. Bruford: University College London
Christian Buhay: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Paula Burch: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Deborah Burford: Wellcome Trust Genome Campus, Hinxton
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Jackie M. Bye: Wellcome Trust Genome Campus, Hinxton
Carol Carder: Wellcome Trust Genome Campus, Hinxton
Laura Carrel: Pennsylvania State College of Medicine
Joseph Chako: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Joanne C. Chapman: Wellcome Trust Genome Campus, Hinxton
Dean Chavez: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Ellson Chen: PE-Applied Biosystems
Guan Chen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Yuan Chen: Wellcome Trust Genome Campus, Hinxton
Zhijian Chen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Craig Chinault: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Alfredo Ciccodicola: Adriano Buzzati-Traverso
Sue Y. Clark: Wellcome Trust Genome Campus, Hinxton
Graham Clarke: Wellcome Trust Genome Campus, Hinxton
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Sheila Clegg: Wellcome Trust Genome Campus, Hinxton
Kerstin Clerc-Blankenburg: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Vicky Cobley: Wellcome Trust Genome Campus, Hinxton
Charlotte G. Cole: Wellcome Trust Genome Campus, Hinxton
Jen S. Conquer: Wellcome Trust Genome Campus, Hinxton
Nicole Corby: Wellcome Trust Genome Campus, Hinxton
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Robert David: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Clay Davis: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Tamsin Eades: Wellcome Trust Genome Campus, Hinxton
Matthew Ellwood: Wellcome Trust Genome Campus, Hinxton
Alexandra Emery-Cohen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Helen Errington: Wellcome Trust Genome Campus, Hinxton
Kathryn L. Evans: University of Edinburgh, Western General Hospital
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Fiona Francis: Université Paris V.
John Frankland: Wellcome Trust Genome Campus, Hinxton
Audrey E. Fraser: Wellcome Trust Genome Campus, Hinxton
Petra Galgoczy: Genomanalyse, Institut für Molekulare Biotechnologie
James Gilbert: Wellcome Trust Genome Campus, Hinxton
Rachel Gill: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Susan Gribble: Wellcome Trust Genome Campus, Hinxton
Coline Griffiths: Wellcome Trust Genome Campus, Hinxton
Russell Grocock: Wellcome Trust Genome Campus, Hinxton
Yanghong Gu: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Rhian Gwilliam: Wellcome Trust Genome Campus, Hinxton
Cerissa Hamilton: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Elizabeth A. Hart: Wellcome Trust Genome Campus, Hinxton
Alicia Hawes: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Paul D. Heath: Wellcome Trust Genome Campus, Hinxton
Katja Heitmann: Max Planck Institute for Molecular Genetics
Steffen Hennig: Max Planck Institute for Molecular Genetics
Judith Hernandez: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Michael Hoffs: Wellcome Trust Genome Campus, Hinxton
Phillip J. Howden: Wellcome Trust Genome Campus, Hinxton
Elizabeth J. Huckle: Wellcome Trust Genome Campus, Hinxton
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Paul J. Hunt: Wellcome Trust Genome Campus, Hinxton
Adrienne R. Hunt: Wellcome Trust Genome Campus, Hinxton
Judith Isherwood: Wellcome Trust Genome Campus, Hinxton
Leni Jacob: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
David Johnson: Wellcome Trust Genome Campus, Hinxton
Sally Jones: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Pieter J. de Jong: BACPAC Resources, Children's Hospital Oakland Research Institute
Shirin S. Joseph: Wellcome Trust Genome Campus, Hinxton
Stephen Keenan: Wellcome Trust Genome Campus, Hinxton
Susan Kelly: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Joanne K. Kershaw: Wellcome Trust Genome Campus, Hinxton
Ziad Khan: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Petra Kioschis: Deutsches Krebsforschungszentrum
Sven Klages: Max Planck Institute for Molecular Genetics
Andrew J. Knights: Wellcome Trust Genome Campus, Hinxton
Anna Kosiura: Max Planck Institute for Molecular Genetics
Christie Kovar-Smith: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Cordelia Langford: Wellcome Trust Genome Campus, Hinxton
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Margaret Leversha: Wellcome Trust Genome Campus, Hinxton
Lora Lewis: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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David M. Lloyd: Wellcome Trust Genome Campus, Hinxton
Hermela Loulseged: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Ines Müller: Max Planck Institute for Molecular Genetics
James C. Mullikin: National Human Genome Research Institute, National Institutes of Health
Ngoc Nguyen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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David Parker: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Dina Patel: Wellcome Trust Genome Campus, Hinxton
Alex V. Pearce: Wellcome Trust Genome Campus, Hinxton
Danita M. Pearson: Wellcome Trust Genome Campus, Hinxton
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Lesette Perez: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Yvonne Ramsey: Wellcome Trust Genome Campus, Hinxton
Kathrin Reichwald: Genomanalyse, Institut für Molekulare Biotechnologie
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David Schlessinger: National Institute on Aging
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Charles Shaw-Smith: Wellcome Trust Genome Campus, Hinxton
Hua Shen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Carl D. Skuce: Wellcome Trust Genome Campus, Hinxton
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Anthony C. Tromans: Wellcome Trust Genome Campus, Hinxton
Michele d'Urso: Adriano Buzzati-Traverso
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Lenee Waldron: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Xuehong Wei: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
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Gabrielle Williams: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Leanne Williams: Wellcome Trust Genome Campus, Hinxton
Angela Williamson: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Helen Williamson: Wellcome Trust Genome Campus, Hinxton
Laurens Wilming: Wellcome Trust Genome Campus, Hinxton
Rebecca L. Woodmansey: Wellcome Trust Genome Campus, Hinxton
Paul W. Wray: Wellcome Trust Genome Campus, Hinxton
Jennifer Yen: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Jingkun Zhang: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Jianling Zhou: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Huda Zoghbi: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Sara Zorilla: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
David Buck: Wellcome Trust Genome Campus, Hinxton
Richard Reinhardt: Max Planck Institute for Molecular Genetics
Annemarie Poustka: Deutsches Krebsforschungszentrum
André Rosenthal: Genomanalyse, Institut für Molekulare Biotechnologie
Hans Lehrach: Max Planck Institute for Molecular Genetics
Alfons Meindl: Medizinische Genetik, Ludwig-Maximilian-Universität
Patrick J. Minx: Washington University Genome Sequencing Center
LaDeana W. Hillier: Washington University Genome Sequencing Center
Huntington F. Willard: Duke University
Richard K. Wilson: Washington University Genome Sequencing Center
Robert H. Waterston: Washington University Genome Sequencing Center
Catherine M. Rice: Wellcome Trust Genome Campus, Hinxton
Mark Vaudin: Wellcome Trust Genome Campus, Hinxton
Alan Coulson: Wellcome Trust Genome Campus, Hinxton
David L. Nelson: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
George Weinstock: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
John E. Sulston: Wellcome Trust Genome Campus, Hinxton
Richard Durbin: Wellcome Trust Genome Campus, Hinxton
Tim Hubbard: Wellcome Trust Genome Campus, Hinxton
Richard A. Gibbs: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
Stephan Beck: Wellcome Trust Genome Campus, Hinxton
Jane Rogers: Wellcome Trust Genome Campus, Hinxton
David R. Bentley: Wellcome Trust Genome Campus, Hinxton

Nature, 2005, vol. 434, issue 7031, 325-337

Abstract: 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.

Date: 2005
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DOI: 10.1038/nature03440

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