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  The DNA sequence of the human X chromosome

Sudbrak, R., Beck, A., Heitmann, K., Hennig, S., Klages, S., Kosiura, A., et al. (2005). The DNA sequence of the human X chromosome. Nature, 343(7031), 325-337. doi:0.1038/nature03440.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-86F9-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-86FA-D
Genre: Journal Article
Alternative Title : Nat

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 Creators:
Sudbrak, Ralf1, Author              
Beck, Alfred2, Author              
Heitmann, Katja3, Author
Hennig, Steffen1, Author              
Klages, Sven1, Author              
Kosiura, Anna3, Author
Mueller, Ines4, Author              
Reinhardt, Richard5, Author              
Lehrach, Hans1, Author              
et al, ..., Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2Computing (Head: Donald Buczek/Peter Marquardt), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479667              
3Max Planck Society, ou_persistent13              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
5High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              

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 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.

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Language(s): eng - English
 Dates: 2005-02-01
 Publication Status: Published in print
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 Identifiers: eDoc: 272855
DOI: 0.1038/nature03440
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Title: Nature
  Alternative Title : Nat
Source Genre: Journal
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Pages: - Volume / Issue: 343 (7031) Sequence Number: - Start / End Page: 325 - 337 Identifier: ISSN: 0028-0836