The DNA sequence of the human X chromosome.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Ross, MT; Grafham, DV; Coffey, AJ; Scherer, S; McLay, K; Muzny, D; Platzer, M; Howell, GR; Burrows, C; Bird, CP; Frankish, A; Lovell, FL; Howe, KL; Ashurst, JL; Fulton, RS; Sudbrak, R; Wen, G; Jones, MC; Hurles, ME; Andrews, TD; Scott, CE; Searle, S; Ramser, J; Whittaker, A; Deadman, R; Carter, NP; Hunt, SE; Chen, R; Cree, A; Gunaratne, P; Havlak, P; Hodgson, A; Metzker, ML; Richards, S; Scott, G; Steffen, D; Sodergren, E; Wheeler, DA; Worley, KC; Ainscough, R; Ambrose, KD; Ansari-Lari, MA; Aradhya, S; Ashwell, RIS; Babbage, AK; Bagguley, CL; Ballabio, A; Banerjee, R; Barker, GE; Barlow, KF; Barrett, IP; Bates, KN; Beare, DM; Beasley, H; Beasley, O; Beck, A; Bethel, G; Blechschmidt, K; Brady, N; Bray-Allen, S; Bridgeman, AM; Brown, AJ; Brown, MJ; Bonnin, D; Bruford, EA; Buhay, C; Burch, P; Burford, D; Burgess, J; Burrill, W; Burton, J; Bye, JM; Carder, C; Carrel, L; Chako, J; Chapman, JC; Chavez, D; Chen, E; Chen, G; Chen, Y; Chen, Z; Chinault, C; Ciccodicola, A; Clark, SY; Clarke, G; Clee, CM; Clegg, S; Clerc-Blankenburg, K; Clifford, K; Cobley, V; Cole, CG; Conquer, JS; Corby, N; Connor, RE; David, R; Davies, J; Davis, C; Davis, J; Delgado, O; Deshazo, D; Dhami, P; Ding, Y; Dinh, H; Dodsworth, S; Draper, H; Dugan-Rocha, S; Dunham, A; Dunn, M; Durbin, KJ; Dutta, I; Eades, T; Ellwood, M; Emery-Cohen, A; Errington, H; Evans, KL; Faulkner, L; Francis, F; Frankland, J; Fraser, AE; Galgoczy, P; Gilbert, J; Gill, R; Glöckner, G; Gregory, SG; Gribble, S; Griffiths, C; Grocock, R; Gu, Y; Gwilliam, R; Hamilton, C; Hart, EA; Hawes, A; Heath, PD; Heitmann, K; Hennig, S; Hernandez, J; Hinzmann, B; Ho, S; Hoffs, M; Howden, PJ; Huckle, EJ; Hume, J; Hunt, PJ; Hunt, AR; Isherwood, J; Jacob, L; Johnson, D; Jones, S; de Jong, PJ; Joseph, SS; Keenan, S; Kelly, S; Kershaw, JK; Khan, Z; Kioschis, P; Klages, S; Knights, AJ; Kosiura, A; Kovar-Smith, C; Laird, GK; Langford, C; Lawlor, S; Leversha, M; Lewis, L; Liu, W; Lloyd, C; Lloyd, DM; Loulseged, H; Loveland, JE; Lovell, JD; Lozado, R; Lu, J; Lyne, R; Ma, J; Maheshwari, M; Matthews, LH; McDowall, J; McLaren, S; McMurray, A; Meidl, P; Meitinger, T; Milne, S; Miner, G; Mistry, SL; Morgan, M; Morris, S; Müller, I; Mullikin, JC; Nguyen, N; Nordsiek, G; Nyakatura, G; O'Dell, CN; Okwuonu, G; Palmer, S; Pandian, R; Parker, D; Parrish, J; Pasternak, S; Patel, D; Pearce, AV; Pearson, DM; Pelan, SE; Perez, L; Porter, KM; Ramsey, Y; Reichwald, K; Rhodes, S; Ridler, KA; Schlessinger, D; Schueler, MG; Sehra, HK; Shaw-Smith, C; Shen, H; Sheridan, EM; Shownkeen, R; Skuce, CD; Smith, ML; Sotheran, EC; Steingruber, HE; Steward, CA; Storey, R; Swann, RM; Swarbreck, D; Tabor, PE; Taudien, S; Taylor, T; Teague, B; Thomas, K; Thorpe, A; Timms, K; Tracey, A; Trevanion, S; Tromans, AC; d'Urso, M; Verduzco, D; Villasana, D; Waldron, L; Wall, M; Wang, Q; Warren, J; Warry, GL; Wei, X; West, A; Whitehead, SL; Whiteley, MN; Wilkinson, JE; Willey, DL; Williams, G; Williams, L; Williamson, A; Williamson, H; Wilming, L; Woodmansey, RL; Wray, PW; Yen, J; Zhang, J; Zhou, J; Zoghbi, H; Zorilla, S; Buck, D; Reinhardt, R; Poustka, A; Rosenthal, A; Lehrach, H; Meindl, A; Minx, PJ; Hillier, LW; Willard, HF; Wilson, RK; Waterston, RH; Rice, CM; Vaudin, M; Coulson, A; Nelson, DL; Weinstock, G; Sulston, JE; Durbin, R; Hubbard, T; Gibbs, RA; Beck, S; Rogers, J; Bentley, DR

Published Date

  • March 17, 2005

Published In

Volume / Issue

  • 434 / 7031

Start / End Page

  • 325 - 337

PubMed ID

  • 15772651

Pubmed Central ID

  • 15772651

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

Digital Object Identifier (DOI)

  • 10.1038/nature03440

Language

  • eng

Conference Location

  • England