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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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Genre: Zeitschriftenartikel
Alternativer Titel : Nat

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nature03440.pdf (beliebiger Volltext), 515KB
 
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 Urheber:
Sudbrak, Ralf1, Autor           
Beck, Alfred2, Autor           
Heitmann, Katja3, Autor
Hennig, Steffen1, Autor           
Klages, Sven1, Autor           
Kosiura, Anna3, Autor
Mueller, Ines4, Autor           
Reinhardt, Richard5, Autor           
Lehrach, Hans1, Autor           
et al, Autor
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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 Zusammenfassung: 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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Sprache(n): eng - English
 Datum: 2005-02-01
 Publikationsstatus: Erschienen
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 Identifikatoren: eDoc: 272857
DOI: 0.1038/nature03440
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Titel: Nature
  Alternativer Titel : Nat
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 343 (7031) Artikelnummer: - Start- / Endseite: 325 - 337 Identifikator: ISSN: 0028-0836