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Statements

Subject Item
n2:RIV%2F68378050%3A_____%2F14%3A00422663%21RIV15-GA0-68378050
rdf:type
skos:Concept n18:Vysledek
dcterms:description
Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering and stably expressed them in human cell culture. Mutations in BRR2 did not compromise snRNP assembly and both mutants were incorporated into the spliceosome just as the wild-type (wt) protein. Surprisingly, cells expressing RP mutants exhibited increased splicing efficiency of the LDHA gene. Next, we found that depletion of endogenous BRR2 enhanced usage of a β-globin cryptic splice site while splicing at the correct splice site was inhibited. Proper splicing of optimal and cryptic splice sites was restored in cells expressing BRR2-wt but not in cells expressing RP mutants. Taken together, our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the RP-linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function. Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering and stably expressed them in human cell culture. Mutations in BRR2 did not compromise snRNP assembly and both mutants were incorporated into the spliceosome just as the wild-type (wt) protein. Surprisingly, cells expressing RP mutants exhibited increased splicing efficiency of the LDHA gene. Next, we found that depletion of endogenous BRR2 enhanced usage of a β-globin cryptic splice site while splicing at the correct splice site was inhibited. Proper splicing of optimal and cryptic splice sites was restored in cells expressing BRR2-wt but not in cells expressing RP mutants. Taken together, our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the RP-linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function.
dcterms:title
Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition
skos:prefLabel
Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition
skos:notation
RIV/68378050:_____/14:00422663!RIV15-GA0-68378050
n3:aktivita
n7:P n7:I
n3:aktivity
I, P(GAP302/11/1910), P(GPP301/12/P425), P(KAN200520801)
n3:cisloPeriodika
3
n3:dodaniDat
n14:2015
n3:domaciTvurceVysledku
n9:7362447 n9:3556654 n9:9613188
n3:druhVysledku
n8:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n13:predkladatel
n3:idSjednocenehoVysledku
42557
n3:idVysledku
RIV/68378050:_____/14:00422663
n3:jazykVysledku
n17:eng
n3:klicovaSlova
Retinitis pigmentosa; pre-mRNA splicing; fidelity
n3:klicoveSlovo
n4:Retinitis%20pigmentosa n4:fidelity n4:pre-mRNA%20splicing
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[7C5F7647C169]
n3:nazevZdroje
Human Mutation
n3:obor
n16:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
3
n3:projekt
n5:GPP301%2F12%2FP425 n5:KAN200520801 n5:GAP302%2F11%2F1910
n3:rokUplatneniVysledku
n14:2014
n3:svazekPeriodika
35
n3:tvurceVysledku
Matějů, Daniel Cvačková, Zuzana Staněk, David
n3:wos
000331909600008
s:issn
1059-7794
s:numberOfPages
10
n15:doi
10.1002/humu.22481