人类X染色体的DNA序列。
The DNA sequence of the human X chromosome.
作者信息
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, Glöckner 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, Müller 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 André, 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
机构信息
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
出版信息
Nature. 2005 Mar 17;434(7031):325-37. doi: 10.1038/nature03440.
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.
人类X染色体具有独特的生物学特性，这种特性是在其作为男性和女性共享的性染色体的进化过程中形成的。我们已经确定了X染色体常染色质序列的99.3%。我们的分析揭示了哺乳动物性染色体的常染色体起源、导致X和Y之间重组逐渐丧失的逐步过程，以及Y染色体随后的退化程度。LINE1重复元件覆盖了X染色体的三分之一，其分布与它们在X染色体失活过程中作为中间站的假定作用一致。我们在该序列中发现了1098个基因，其中99个编码在睾丸和各种肿瘤类型中表达的蛋白质。X染色体上记录的孟德尔疾病数量异常之多。其中，168种已通过113个X连锁基因的突变得到解释，在许多情况下，这些基因是借助DNA序列进行表征的。
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