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  Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Kumar, R., Corbett, M. A., Van Bon, B. W., Gardner, A., Woenig, J. A., Jolly, L. A., et al. (2015). Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics, 24(25), 7171-7181. doi:10.1093/hmg/ddv414.

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© The Authors 2015. Published by Oxford University Press.
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http://www.ncbi.nlm.nih.gov/pubmed/26443594 (beliebiger Volltext)
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 Urheber:
Kumar, R., Autor
Corbett, M. A., Autor
Van Bon, B. W., Autor
Gardner, A., Autor
Woenig, J. A., Autor
Jolly, L. A., Autor
Douglas, E., Autor
Friend, K., Autor
Tan, C., Autor
Van Esch, H., Autor
Holvoet, M., Autor
Raynaud, M., Autor
Field, M., Autor
Leffler, M., Autor
Budny, B., Autor
Wisniewska, M., Autor
Badura-Stronka, M., Autor
Latos-Bielenska, A., Autor
Batanian, J., Autor
Rosenfeld, J. A., Autor
Basel-Vanagaite, L., AutorJensen, C.1, AutorBienek, M.1, Autor           Froyen, G., AutorUllmann, R., AutorHu, H.1, Autor           Love, M. I.2, Autor           Haas, S. A.3, Autor           Stankiewicz, P., AutorCheung, S. W., AutorBaxendale, A., AutorNicholl, J., AutorThompson, E. M., AutorHaan, E., AutorKalscheuer, V. M.4, Autor           Gecz, J., Autor mehr..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2IMPRS for Computational Biology and Scientific Computing - IMPRS-CBSC (Kirsten Kelleher), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479666              
3Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Zusammenfassung: Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disability (ID). For many CNVs, and copy number gains in particular, the responsible dosage-sensitive gene(s) have been hard to identify. We have collected 18 different interstitial microduplications and 1 microtriplication of Xq25. There were 15 affected individuals from 6 different families and 13 singleton cases, 28 affected males in total. The critical overlapping region involved the STAG2 gene, which codes for a subunit of the cohesin complex that regulates cohesion of sister chromatids and gene transcription. We demonstrate that STAG2 is the dosage-sensitive gene within these CNVs, as gains of STAG2 mRNA and protein dysregulate disease-relevant neuronal gene networks in cells derived from affected individuals. We also show that STAG2 gains result in increased expression of OPHN1, a known X-chromosome ID gene. Overall, we define a novel cohesinopathy due to copy number gain of Xq25 and STAG2 in particular.

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Sprache(n): eng - English
 Datum: 2015-10-062015-12-20
 Publikationsstatus: Erschienen
 Seiten: 11
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: DOI: 10.1093/hmg/ddv414
ISSN: 1460-2083 (Electronic)0964-6906 (Print)
 Art des Abschluß: -

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Titel: Human Molecular Genetics
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Oxford, England : IRL Press
Seiten: - Band / Heft: 24 (25) Artikelnummer: - Start- / Endseite: 7171 - 7181 Identifikator: ISSN: 0964-6906
CoNE: https://pure.mpg.de/cone/journals/resource/954925581153