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A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs
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SYSNO ASEP 0334100 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs Author(s) Huranová, Martina (UMG-J) ORCID
Hnilicová, Jarmila (UMG-J)
Fleischer, Branislav (UMG-J)
Cvačková, Zuzana (UMG-J) RID
Staněk, David (UMG-J) RIDNumber of authors 5 Source Title Human Molecular Genetics. - : Oxford University Press - ISSN 0964-6906
Roč. 18, č. 11 (2009), s. 2014-2023Number of pages 10 s. Language eng - English Country GB - United Kingdom Keywords retinitis pigmentosa ; snRNP ; splicing Subject RIV EB - Genetics ; Molecular Biology R&D Projects KAN200520801 GA AV ČR - Academy of Sciences of the Czech Republic (AV ČR) CEZ AV0Z50520514 - UMG-J (2005-2011) UT WOS 000265951600010 DOI 10.1093/hgm/ddp125 Annotation The AD29 mutation in HPRP31 belongs to a series of mutations that were initially linked with the autosomal dominant disorder retinitis pigmentosa (RP) type 11. The HPRP31 gene encodes the hPrp31 protein that specifically associates with spliceosomal small nuclear ribonucleoprotein particles (snRNPs). In this study we report that expression of this mutant protein affects cell proliferation and alters the structure of nuclear Cajal bodies that are connected with snRNP metabolism. Interestingly, these effects can be reversed by the over-expression of the hPrp6 protein, a binding partner of hPrp31. We present several lines of evidence that demonstrate that association between the AD29 mutant and snRNPs in the cell nucleus is significantly reduced. Finally, we show that stability of the AD29 mutant is severely affected resulting in its rapid degradation. Taken together, our results significantly impact our understanding of the molecular mechanisms underlying RP. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2010
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