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Full-text held externally
- PMID: 15772651
- UKPMCID: 15772651
- DOI: 10.1038/nature03440
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The DNA sequence of the human X chromosome.
Ross, Mark T; Grafham, Darren V; Coffey, Alison J; Scherer, Steven; McLay, Kirsten; Muzny, Donna; Platzer, Matthias; Howell, Gareth R; Burrows, Christine; Bird, Christine P; Frankish, Adam; Lovell, Frances L; Howe, Kevin L; Ashurst, Jennifer L; Fulton, Robert S; Sudbrak, Ralf; Wen, Gaiping; Jones, Matthew C; Hurles, Matthew E; Andrews, T Daniel; Scott, Carol E; Searle, Stephen; Ramser, Juliane; Whittaker, Adam; Deadman, Rebecca; Carter, Nigel P; Hunt, Sarah E; Chen, Rui; Cree, Andrew; Gunaratne, Preethi; Havlak, Paul; Hodgson, Anne; Metzker, Michael L; Richards, Stephen; Scott, Graham; Steffen, David; Sodergren, Erica; Wheeler, David A; Worley, Kim C; Ainscough, Rachael; Ambrose, Kerrie D; Ansari-Lari, M Ali; Aradhya, Swaroop; Ashwell, Robert I S; Babbage, Anne K; Bagguley, Claire L; Ballabio, Andrea; Banerjee, Ruby; Barker, Gary E; Barlow, Karen F; Barrett, Ian P; Bates, Karen N; Beare, David M; Beasley, Helen; Beasley, Oliver; Beck, Alfred; Bethel, Graeme; Blechschmidt, Karin; Brady, Nicola; Bray-Allen, Sarah; Bridgeman, Anne M; Brown, Andrew J; Brown, Mary J; Bonnin, David; Bruford, Elspeth A; Buhay, Christian; Burch, Paula; Burford, Deborah; Burgess, Joanne; Burrill, Wayne; Burton, John; Bye, Jackie M; Carder, Carol; Carrel, Laura; Chako, Joseph; Chapman, Joanne C; Chavez, Dean; Chen, Ellson; Chen, Guan; Chen, Yuan; Chen, Zhijian; Chinault, Craig; Ciccodicola, Alfredo; Clark, Sue Y; Clarke, Graham; Clee, Chris M; Clegg, Sheila; Clerc-Blankenburg, Kerstin; Clifford, Karen; Cobley, Vicky; Cole, Charlotte G; Conquer, Jen S; Corby, Nicole; Connor, Richard E; David, Robert; Davies, Joy; Davis, Clay; Davis, John; Delgado, Oliver; Deshazo, Denise; Dhami, Pawandeep; Ding, Yan; Dinh, Huyen; Dodsworth, Steve; Draper, Heather; Dugan-Rocha, Shannon; Dunham, Andrew; Dunn, Matthew; Durbin, K James; Dutta, Ireena; Eades, Tamsin; Ellwood, Matthew; Emery-Cohen, Alexandra; Errington, Helen; Evans, Kathryn L; Faulkner, Louisa; Francis, Fiona; Frankland, John; Fraser, Audrey E; Galgoczy, Petra; Gilbert, James; Gill, Rachel; Gl??ckner, Gernot; Gregory, Simon G; Gribble, Susan; Griffiths, Coline; Grocock, Russell; Gu, Yanghong; Gwilliam, Rhian; Hamilton, Cerissa; Hart, Elizabeth A; Hawes, Alicia; Heath, Paul D; Heitmann, Katja; Hennig, Steffen; Hernandez, Judith; Hinzmann, Bernd; Ho, Sarah; Hoffs, Michael; Howden, Phillip J; Huckle, Elizabeth J; Hume, Jennifer; Hunt, Paul J; Hunt, Adrienne R; Isherwood, Judith; Jacob, Leni; Johnson, David; Jones, Sally; de Jong, Pieter J; Joseph, Shirin S; Keenan, Stephen; Kelly, Susan; Kershaw, Joanne K; Khan, Ziad; Kioschis, Petra; Klages, Sven; Knights, Andrew J; Kosiura, Anna; Kovar-Smith, Christie; Laird, Gavin K; Langford, Cordelia; Lawlor, Stephanie; Leversha, Margaret; Lewis, Lora; Liu, Wen; Lloyd, Christine; Lloyd, David M; Loulseged, Hermela; Loveland, Jane E; Lovell, Jamieson D; Lozado, Ryan; Lu, Jing; Lyne, Rachael; Ma, Jie; Maheshwari, Manjula; Matthews, Lucy H; McDowall, Jennifer; McLaren, Stuart; McMurray, Amanda; Meidl, Patrick; Meitinger, Thomas; Milne, Sarah; Miner, George; Mistry, Shailesh L; Morgan, Margaret; Morris, Sidney; M??ller, Ines; Mullikin, James C; Nguyen, Ngoc; Nordsiek, Gabriele; Nyakatura, Gerald; O'Dell, Christopher N; Okwuonu, Geoffery; Palmer, Sophie; Pandian, Richard; Parker, David; Parrish, Julia; Pasternak, Shiran; Patel, Dina; Pearce, Alex V; Pearson, Danita M; Pelan, Sarah E; Perez, Lesette; Porter, Keith M; Ramsey, Yvonne; Reichwald, Kathrin; Rhodes, Susan; Ridler, Kerry A; Schlessinger, David; Schueler, Mary G; Sehra, Harminder K; Shaw-Smith, Charles; Shen, Hua; Sheridan, Elizabeth M; Shownkeen, Ratna; Skuce, Carl D; Smith, Michelle L; Sotheran, Elizabeth C; Steingruber, Helen E; Steward, Charles A; Storey, Roy; Swann, R Mark; Swarbreck, David; Tabor, Paul E; Taudien, Stefan; Taylor, Tineace; Teague, Brian; Thomas, Karen; Thorpe, Andrea; Timms, Kirsten; Tracey, Alan; Trevanion, Steve; Tromans, Anthony C; d'Urso, Michele; Verduzco, Daniel; Villasana, Donna; Waldron, Lenee; Wall, Melanie; Wang, Qiaoyan; Warren, James; Warry, Georgina L; Wei, Xuehong; West, Anthony; Whitehead, Siobhan L; Whiteley, Mathew N; Wilkinson, Jane E; Willey, David L; Williams, Gabrielle; Williams, Leanne; Williamson, Angela; Williamson, Helen; Wilming, Laurens; Woodmansey, Rebecca L; Wray, Paul W; Yen, Jennifer; Zhang, Jingkun; Zhou, Jianling; Zoghbi, Huda; Zorilla, Sara; Buck, David; Reinhardt, Richard; Poustka, Annemarie; Rosenthal, Andr??; Lehrach, Hans; Meindl, Alfons; Minx, Patrick J; Hillier, Ladeana W; Willard, Huntington F; Wilson, Richard K; Waterston, Robert H; Rice, Catherine M; Vaudin, Mark; Coulson, Alan; Nelson, David L; Weinstock, George; Sulston, John E; Durbin, Richard; Hubbard, Tim; Gibbs, Richard A; Beck, Stephan; Rogers, Jane; Bentley, David R
Nature. 2005;434(7031):325-37.
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Full-text held externally
- PMID: 15772651
- UKPMCID: 15772651
- DOI: 10.1038/nature03440
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.
Bibliographic metadata
- Ross, Mark T
- Grafham, Darren V
- Coffey, Alison J
- Scherer, Steven
- McLay, Kirsten
- Muzny, Donna
- Platzer, Matthias
- Howell, Gareth R
- Burrows, Christine
- Bird, Christine P
- Frankish, Adam
- Lovell, Frances L
- Howe, Kevin L
- Ashurst, Jennifer L
- Fulton, Robert S
- Sudbrak, Ralf
- Wen, Gaiping
- Jones, Matthew C
- Hurles, Matthew E
- Andrews, T Daniel
- Scott, Carol E
- Searle, Stephen
- Ramser, Juliane
- Whittaker, Adam
- Deadman, Rebecca
- Carter, Nigel P
- Hunt, Sarah E
- Chen, Rui
- Cree, Andrew
- Gunaratne, Preethi
- Havlak, Paul
- Hodgson, Anne
- Metzker, Michael L
- Richards, Stephen
- Scott, Graham
- Steffen, David
- Sodergren, Erica
- Wheeler, David A
- Worley, Kim C
- Ainscough, Rachael
- Ambrose, Kerrie D
- Ansari-Lari, M Ali
- Aradhya, Swaroop
- Ashwell, Robert I S
- Babbage, Anne K
- Bagguley, Claire L
- Ballabio, Andrea
- Banerjee, Ruby
- Barker, Gary E
- Barlow, Karen F
- Barrett, Ian P
- Bates, Karen N
- Beare, David M
- Beasley, Helen
- Beasley, Oliver
- Beck, Alfred
- Bethel, Graeme
- Blechschmidt, Karin
- Brady, Nicola
- Bray-Allen, Sarah
- Bridgeman, Anne M
- Brown, Andrew J
- Brown, Mary J
- Bonnin, David
- Bruford, Elspeth A
- Buhay, Christian
- Burch, Paula
- Burford, Deborah
- Burgess, Joanne
- Burrill, Wayne
- Burton, John
- Bye, Jackie M
- Carder, Carol
- Carrel, Laura
- Chako, Joseph
- Chapman, Joanne C
- Chavez, Dean
- Chen, Ellson
- Chen, Guan
- Chen, Yuan
- Chen, Zhijian
- Chinault, Craig
- Ciccodicola, Alfredo
- Clark, Sue Y
- Clarke, Graham
- Clee, Chris M
- Clegg, Sheila
- Clerc-Blankenburg, Kerstin
- Clifford, Karen
- Cobley, Vicky
- Cole, Charlotte G
- Conquer, Jen S
- Corby, Nicole
- Connor, Richard E
- David, Robert
- Davies, Joy
- Davis, Clay
- Davis, John
- Delgado, Oliver
- Deshazo, Denise
- Dhami, Pawandeep
- Ding, Yan
- Dinh, Huyen
- Dodsworth, Steve
- Draper, Heather
- Dugan-Rocha, Shannon
- Dunham, Andrew
- Dunn, Matthew
- Durbin, K James
- Dutta, Ireena
- Eades, Tamsin
- Ellwood, Matthew
- Emery-Cohen, Alexandra
- Errington, Helen
- Evans, Kathryn L
- Faulkner, Louisa
- Francis, Fiona
- Frankland, John
- Fraser, Audrey E
- Galgoczy, Petra
- Gilbert, James
- Gill, Rachel
- Gl??ckner, Gernot
- Gregory, Simon G
- Gribble, Susan
- Griffiths, Coline
- Grocock, Russell
- Gu, Yanghong
- Gwilliam, Rhian
- Hamilton, Cerissa
- Hart, Elizabeth A
- Hawes, Alicia
- Heath, Paul D
- Heitmann, Katja
- Hennig, Steffen
- Hernandez, Judith
- Hinzmann, Bernd
- Ho, Sarah
- Hoffs, Michael
- Howden, Phillip J
- Huckle, Elizabeth J
- Hume, Jennifer
- Hunt, Paul J
- Hunt, Adrienne R
- Isherwood, Judith
- Jacob, Leni
- Johnson, David
- Jones, Sally
- de Jong, Pieter J
- Joseph, Shirin S
- Keenan, Stephen
- Kelly, Susan
- Kershaw, Joanne K
- Khan, Ziad
- Kioschis, Petra
- Klages, Sven
- Knights, Andrew J
- Kosiura, Anna
- Kovar-Smith, Christie
- Laird, Gavin K
- Langford, Cordelia
- Lawlor, Stephanie
- Leversha, Margaret
- Lewis, Lora
- Liu, Wen
- Lloyd, Christine
- Lloyd, David M
- Loulseged, Hermela
- Loveland, Jane E
- Lovell, Jamieson D
- Lozado, Ryan
- Lu, Jing
- Lyne, Rachael
- Ma, Jie
- Maheshwari, Manjula
- Matthews, Lucy H
- McDowall, Jennifer
- McLaren, Stuart
- McMurray, Amanda
- Meidl, Patrick
- Meitinger, Thomas
- Milne, Sarah
- Miner, George
- Mistry, Shailesh L
- Morgan, Margaret
- Morris, Sidney
- M??ller, Ines
- Mullikin, James C
- Nguyen, Ngoc
- Nordsiek, Gabriele
- Nyakatura, Gerald
- O'Dell, Christopher N
- Okwuonu, Geoffery
- Palmer, Sophie
- Pandian, Richard
- Parker, David
- Parrish, Julia
- Pasternak, Shiran
- Patel, Dina
- Pearce, Alex V
- Pearson, Danita M
- Pelan, Sarah E
- Perez, Lesette
- Porter, Keith M
- Ramsey, Yvonne
- Reichwald, Kathrin
- Rhodes, Susan
- Ridler, Kerry A
- Schlessinger, David
- Schueler, Mary G
- Sehra, Harminder K
- Shaw-Smith, Charles
- Shen, Hua
- Sheridan, Elizabeth M
- Shownkeen, Ratna
- Skuce, Carl D
- Smith, Michelle L
- Sotheran, Elizabeth C
- Steingruber, Helen E
- Steward, Charles A
- Storey, Roy
- Swann, R Mark
- Swarbreck, David
- Tabor, Paul E
- Taudien, Stefan
- Taylor, Tineace
- Teague, Brian
- Thomas, Karen
- Thorpe, Andrea
- Timms, Kirsten
- Tracey, Alan
- Trevanion, Steve
- Tromans, Anthony C
- d'Urso, Michele
- Verduzco, Daniel
- Villasana, Donna
- Waldron, Lenee
- Wall, Melanie
- Wang, Qiaoyan
- Warren, James
- Warry, Georgina L
- Wei, Xuehong
- West, Anthony
- Whitehead, Siobhan L
- Whiteley, Mathew N
- Wilkinson, Jane E
- Willey, David L
- Williams, Gabrielle
- Williams, Leanne
- Williamson, Angela
- Williamson, Helen
- Wilming, Laurens
- Woodmansey, Rebecca L
- Wray, Paul W
- Yen, Jennifer
- Zhang, Jingkun
- Zhou, Jianling
- Zoghbi, Huda
- Zorilla, Sara
- Buck, David
- Reinhardt, Richard
- Poustka, Annemarie
- Rosenthal, Andr??
- Lehrach, Hans
- Meindl, Alfons
- Minx, Patrick J
- Hillier, Ladeana W
- Willard, Huntington F
- Wilson, Richard K
- Waterston, Robert H
- Rice, Catherine M
- Vaudin, Mark
- Coulson, Alan
- Nelson, David L
- Weinstock, George
- Sulston, John E
- Durbin, Richard
- Hubbard, Tim
- Gibbs, Richard A
- Beck, Stephan
- Rogers, Jane
- Bentley, David R