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Statements

Subject Item
n2:RIV%2F68378050%3A_____%2F09%3A00334100%21RIV10-AV0-68378050
rdf:type
n17:Vysledek skos:Concept
dcterms: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.
dcterms: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
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
skos:notation
RIV/68378050:_____/09:00334100!RIV10-AV0-68378050
n3:aktivita
n8:Z n8:P
n3:aktivity
P(KAN200520801), Z(AV0Z50520514)
n3:cisloPeriodika
11
n3:dodaniDat
n13:2010
n3:domaciTvurceVysledku
n6:8636168 n6:9613188 n6:8466572 n6:4722086 n6:3556654
n3:druhVysledku
n11:J
n3:duvernostUdaju
n5:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
301359
n3:idVysledku
RIV/68378050:_____/09:00334100
n3:jazykVysledku
n14:eng
n3:klicovaSlova
retinitis pigmentosa; snRNP; splicing
n3:klicoveSlovo
n15:splicing n15:retinitis%20pigmentosa n15:snRNP
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[1EC92CFBC288]
n3:nazevZdroje
Human Molecular Genetics
n3:obor
n10:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
5
n3:projekt
n18:KAN200520801
n3:rokUplatneniVysledku
n13:2009
n3:svazekPeriodika
18
n3:tvurceVysledku
Cvačková, Zuzana Huranová, Martina Staněk, David Hnilicová, Jarmila Fleischer, Branislav
n3:wos
000265951600010
n3:zamer
n4:AV0Z50520514
s:issn
0964-6906
s:numberOfPages
10