The DNA sequence of the human X chromosome
Open accessAbstract
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.
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LINE2 density is not higher on sex chromosomes than on autosomes in platypus.
“nor is it higher on sex chromosomes than on autosomes, as LINE1 density is in eutherians (which has led to postulations on a function in dosage compensation) 60”
From Genome analysis of the platypus reveals unique signatures of evolution (2008) · cites this paper as [60]
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Apical root resorptions in girls with Turner syndrome: a controlled longitudinal study
Kjellberg, H., Lundgren, T., Barrenäs, M. L., & Rizell, S. (2022) · European Journal of Orthodontics · doi:10.1093/ejo/cjac024 · Cited by 2 · see citing works
- Authors
- Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., Frankish, A., Lovell, F. L., Howe, K. L., Ashurst, J. L., Fulton, R. S., Sudbrak, R., Wen, G., Jones, M. C., Hurles, M. E., Andrews, T. D., Scott, C. E., Searle, S., Ramser, J., Whittaker, A., Deadman, R., Carter, N. P., Hunt, S. E., Chen, R., Cree, A., Gunaratne, P., Havlak, P., Hodgson, A., Metzker, M. L., Richards, S., Scott, G., Steffen, D., Sodergren, E., Wheeler, D. A., Worley, K. C., Ainscough, R., Ambrose, K. D., Ansari-Lari, M. A., Aradhya, S., Ashwell, R. I. S., Babbage, A. K., Bagguley, C. L., Ballabio, A., Banerjee, R., Barker, G. E., Barlow, K. F., Barrett, I. P., Bates, K. N., Beare, D. M., Beasley, H., Beasley, O., Beck, A., Bethel, G., Blechschmidt, K., Brady, N., Bray-Allen, S., Bridgeman, A. M., Brown, A. J., Brown, M. J., Bonnin, D., Bruford, E. A., Buhay, C., Burch, P., Burford, D., Burgess, J., Burrill, W., Burton, J., Bye, J. M., Carder, C., Carrel, L., Chako, J., Chapman, J. C., Chavez, D., Chen, E., Chen, G., Chen, Y., Chen, Z., Chinault, C., Ciccodicola, A., Clark, S. Y., Clarke, G., Clee, C. M., Clegg, S., Clerc-Blankenburg, K., Clifford, K., Cobley, V., Cole, C. G., Conquer, J. S., Corby, N., Connor, R. E., 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, K. J., Dutta, I., Eades, T., Ellwood, M., Emery-Cohen, A., Errington, H., Evans, K. L., Faulkner, L., Francis, F., Frankland, J., Fraser, A. E., Galgoczy, P., Gilbert, J., Gill, R., Glöckner, G., Gregory, S. G., Gribble, S., Griffiths, C., Grocock, R., Gu, Y., Gwilliam, R., Hamilton, C., Hart, E. A., Hawes, A., Heath, P. D., Heitmann, K., Hennig, S., Hernandez, J., Hinzmann, B., Ho, S., Hoffs, M., Howden, P. J., Huckle, E. J., Hume, J., Hunt, P. J., Hunt, A. R., Isherwood, J., Jacob, L., Johnson, D., Jones, S., de Jong, P. J., Joseph, S. S., Keenan, S., Kelly, S., Kershaw, J. K., Khan, Z., Kioschis, P., Klages, S., Knights, A. J., Kosiura, A., Kovar-Smith, C., Laird, G. K., Langford, C., Lawlor, S., Leversha, M., Lewis, L., Liu, W., Lloyd, C., Lloyd, D. M., Loulseged, H., Loveland, J. E., Lovell, J. D., Lozado, R., Lu, J., Lyne, R., Ma, J., Maheshwari, M., Matthews, L. H., McDowall, J., McLaren, S., McMurray, A., Meidl, P., Meitinger, T., Milne, S., Miner, G., Mistry, S. L., Morgan, M., Morris, S., Müller, I., Mullikin, J. C., Nguyen, N., Nordsiek, G., Nyakatura, G., O'Dell, C. N., Okwuonu, G., Palmer, S., Pandian, R., Parker, D., Parrish, J., Pasternak, S., Patel, D., Pearce, A. V., Pearson, D. M., Pelan, S. E., Perez, L., Porter, K. M., Ramsey, Y., Reichwald, K., Rhodes, S., Ridler, K. A., Schlessinger, D., Schueler, M. G., Sehra, H. K., Shaw-Smith, C., Shen, H., Sheridan, E. M., Shownkeen, R., Skuce, C. D., Smith, M. L., Sotheran, E. C., Steingruber, H. E., Steward, C. A., Storey, R., Swann, R. M., Swarbreck, D., Tabor, P. E., Taudien, S., Taylor, T., Teague, B., Thomas, K., Thorpe, A., Timms, K., Tracey, A., Trevanion, S., Tromans, A. C., d'Urso, M., Verduzco, D., Villasana, D., Waldron, L., Wall, M., Wang, Q., Warren, J., Warry, G. L., Wei, X., West, A., Whitehead, S. L., Whiteley, M. N., Wilkinson, J. E., Willey, D. L., Williams, G., Williams, L., Williamson, A., Williamson, H., Wilming, L., Woodmansey, R. L., Wray, P. W., Yen, J., Zhang, J., Zhou, J., Zoghbi, H., Zorilla, S., Buck, D., Reinhardt, R., Poustka, A., Rosenthal, A., Lehrach, H., Meindl, A., Minx, P. J., Hillier, L. W., Willard, H. F., Wilson, R. K., Waterston, R. H., Rice, C. M., Vaudin, M., Coulson, A., Nelson, D. L., Weinstock, G., Sulston, J. E., Durbin, R., Hubbard, T., Gibbs, R. A., Beck, S., Rogers, J., & Bentley, D. R.
- Affiliations
- Wellcome Sanger Institute (GB)
- Baylor College of Medicine (US)
- Washington University in St. Louis (US)
- Christian-Albrechts-Universität zu Kiel (DE)
- Ludwig-Maximilians-Universität München (DE)
- Max Planck Institute for Molecular Genetics (DE)
- University College London (GB)
- Pennsylvania State University (US)
- European Bioinformatics Institute (GB)
- Institute of Genetics and Biophysics (IT)
- Western General Hospital (GB)
- Inserm (FR)
- German Cancer Research Center (DE)
- National Institutes of Health (US)
- National Institute on Aging (US)
- Duke University (US)
- Corresponding author
- Ross, Mark T.
- ORCID
- Ross, Mark T.
- Coffey, Alison J.
- Scherer, Steven
- Muzny, Donna
- Platzer, Matthias
- Howell, Gareth R.
- Frankish, Adam
- Howe, Kevin L.
- Fulton, Robert S.
- Sudbrak, Ralf
- Jones, Matthew C.
- Hurles, Matthew E.
- Andrews, T. Daniel
- Hunt, Sarah E.
- Chen, Rui
- Gunaratne, Preethi
- Richards, Stephen
- Steffen, David
- Sodergren, Erica
- Wheeler, David A.
- Worley, Kim C.
- Aradhya, Swaroop
- Ballabio, Andrea
- Banerjee, Ruby
- Barrett, Ian P.
- Brady, Nicola
- Bridgeman, Anne M.
- Brown, Andrew J.
- Bruford, Elspeth A.
- Carrel, Laura
- Chen, Guan
- Chen, Yuan
- Ciccodicola, Alfredo
- Delgado, Oliver
- Ding, Yan
- Dinh, Huyen
- Dunn, Matthew
- Dutta, Ireena
- Evans, Kathryn L.
- Francis, Fiona
- Gilbert, James
- Glöckner, Gernot
- Gregory, Simon G.
- Gu, Yanghong
- Hennig, Steffen
- Hernandez, Judith
- Hinzmann, Bernd
- Hunt, Adrienne R.
- Keenan, Stephen
- Khan, Ziad
- Klages, Sven
- Knights, Andrew J.
- Laird, Gavin K.
- Langford, Cordelia
- Lloyd, David M.
- Loveland, Jane E.
- Ma, Jie
- McMurray, Amanda
- Meitinger, Thomas
- Milne, Sarah
- Morgan, Margaret
- Mullikin, James C.
- Nguyen, Ngoc
- Pelan, Sarah E.
- Rhodes, Susan
- Schlessinger, David
- Shen, Hua
- Smith, Michelle L.
- Steward, Charles A.
- Storey, Roy
- Swarbreck, David
- Teague, Brian
- Thomas, Karen
- Timms, Kirsten
- Tracey, Alan
- Wang, Qiaoyan
- Wei, Xuehong
- Wilming, Laurens
- Zhang, Jingkun
- Zoghbi, Huda
- Buck, David
- Reinhardt, Richard
- Meindl, Alfons
- Minx, Patrick J.
- Willard, Huntington F.
- Waterston, Robert H.
- Nelson, David L.
- Weinstock, George
- Durbin, Richard
- Hubbard, Tim
- Gibbs, Richard A.
- Beck, Stephan
- Venue
- Nature
- Published
- 2005-03
- Volume
- 434
- Issue
- 7031
- Pages
- 325-337
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2665286
- OpenAlex
- W2126084304
- Cited by
- 1,129
- References
- 74
- Citations by year
- 2026: 23 · 2025: 32 · 2024: 38 · 2023: 37 · 2022: 36 · 2021: 53 · 2020: 47 · 2019: 51 · 2018: 41 · 2017: 55 · 2016: 31 · 2015: 44 · 2014: 61 · 2013: 50 · 2012: 84
- FWCI
- 45.66
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Durham Research Online (Durham University) (submittedVersion, cc-by)
- Research Portal (King's College London) (submittedVersion)
- mediaTUM (Technical University of Munich) (submittedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- CINECA IRIS Institutial research information system (Parthenope University of Naples) (submittedVersion)
- Funders
- Wellcome Trust
- Broad Institute
- National Human Genome Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- human X chromosome, sex chromosome evolution, Y chromosome degeneration, X chromosome inactivation, X-linked genes, X-linked disorders, testis-expressed genes
- MeSH terms
- Animals, Antigens, Neoplasm, Centromere, Crossing Over, Genetic, Dosage Compensation, Genetic, Female, Genetics, Medical, Humans, Genetic Linkage, Male, Repetitive Sequences, Nucleic Acid, RNA, Sequence Homology, Nucleic Acid, Testis, Sequence Analysis, DNA, Evolution, Molecular, Contig Mapping, Polymorphism, Single Nucleotide, Genomics, Chromosomes, Human, X, Chromosomes, Human, Y
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