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  Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Froyen, G., Corbett, M., Vandewalle, J., Jarvela, I., Lawrence, O., Meldrum, C., et al. (2008). Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. The American Journal of Human Genetics, 82(2), 432-443. doi:10.1016/j.ajhg.2007.11.002.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am J Hum Genet

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 Urheber:
Froyen, Guy, Autor
Corbett, Mark, Autor
Vandewalle, Joke, Autor
Jarvela, Irma, Autor
Lawrence, Owen, Autor
Meldrum, Cliff, Autor
Bauters, Marijke, Autor
Govaerts, Karen, Autor
Vandeleur, Lucianne, Autor
Van Esch, Hilde, Autor
Chelly, Jamel, Autor
Sanlaville, Damien, Autor
van Bokhoven, Hans, Autor
Ropers, Hans-Hilger1, Autor           
Laumonnier, Frederic, Autor
Ranieri, Enzo, Autor
Schwartz, Charles E., Autor
Abidi, Fatima, Autor
Tarpey, Patrick S., Autor
Futreal, P. Andrew, Autor
Whibley, Annabel, AutorRaymond, F. Lucy, AutorStratton, Michael R., AutorFryns, Jean-Pierre, AutorScott, Rodney, AutorPeippo, Maarit, AutorSipponen, Marjatta, AutorPartington, Michael, AutorMowat, David, AutorField, Michael, AutorHackett, Anna, AutorMarynen, Peter, AutorTurner, Gillian, AutorGécz, Jozef, Autor mehr..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Zusammenfassung: Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain and because it escapes X inactivation in females. For the other genes, expression array and quantitative PCR analysis in patient cell lines compared to controls showed a significant upregulation of HSD17B10 and HUWE1 as well as several important genes in their molecular pathways. Loss-of-function mutations of HSD17B10 have previously been associated with progressive neurological disease and XLMR. The E3 ubiquitin ligase HUWE1 has been implicated in TP53-associated regulation of the neuronal cell cycle. Here, we also report segregating sequence changes of highly conserved residues in HUWE1 in three XLMR families; these changes are possibly associated with the phenotype. Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too.

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Sprache(n): eng - English
 Datum: 2008-01-24
 Publikationsstatus: Erschienen
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Titel: The American Journal of Human Genetics,
  Alternativer Titel : Am J Hum Genet
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 82 (2) Artikelnummer: - Start- / Endseite: 432 - 443 Identifikator: -