About: A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs

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About: A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs Goto Sponge Distinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. (en)
Title	A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs (en)
skos:prefLabel	A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs (en)
skos:notation	RIV/68378050:_____/09:00334100!RIV10-AV0-68378050
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(KAN200520801), Z(AV0Z50520514)
http://linked.open...iv/cisloPeriodika	11
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Fleischer, Branislav Huranová, Martina Cvačková, Zuzana Staněk, David Hnilicová, Jarmila
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Ústav molekulární genetiky AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	301359
http://linked.open...ai/riv/idVysledku	RIV/68378050:_____/09:00334100
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	retinitis pigmentosa; snRNP; splicing (en)
http://linked.open.../riv/klicoveSlovo	splicing snRNP retinitis pigmentosa
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[1EC92CFBC288]
http://linked.open...i/riv/nazevZdroje	Human Molecular Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Targeted expression and transport of bioactive molecules
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	18
http://linked.open...iv/tvurceVysledku	Hnilicová, Jarmila Staněk, David Huranová, Martina Cvačková, Zuzana Fleischer, Branislav
http://linked.open...ain/vavai/riv/wos	000265951600010
http://linked.open...n/vavai/riv/zamer	Molekulárně genetické a buněčné základy klíčových biologických procesů: genová exprese, onkogeneze, replikace virů, imunita a vývoj organismů
issn	0964-6906
number of pages	10 (xsd:int)

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