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Statements

Subject Item
n2:RIV%2F68378050%3A_____%2F11%3A00390255%21RIV13-AV0-68378050
rdf:type
skos:Concept n12:Vysledek
dcterms:description
Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency among disease-causing exonic substitutions is unknown. Here, we have tested missense and silent mutations deposited in the BRCA1 mutation databases of unclassified variants for their effects on exon inclusion. Analysis of 21 BRCA1 variants using minigene assays revealed a single exon-skipping mutation c.231G > T. Comprehensive mutagenesis of an adjacent 12-nt segment showed that this silent mutation resulted in a higher level of exon skipping than the 35 other single-nucleotide substitutions. Exon inclusion levels of mutant constructs correlated significantly with predicted splicing enhancers/silencers, prompting the development of two online utilities freely available at http://www.dbass.org.uk. EX-SKIP quickly estimates which allele is more susceptible to exon skipping, whereas HOT-SKIP examines all possible mutations at each exon position and identifies candidate exon-skipping positions/substitutions. We demonstrate that the distribution of exon-skipping and disease-associated substitutions previously identified in coding regions was biased toward top-ranking HOT-SKIP mutations. Finally, we show that proteins 9G8, SC35, SF2/ASF, Tra2, and hnRNP A1 were associated with significant alterations of BRCA1 exon 6 inclusion in the mRNA. Together, these results facilitate prediction of exonic substitutions that reduce exon inclusion in mature transcripts. Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency among disease-causing exonic substitutions is unknown. Here, we have tested missense and silent mutations deposited in the BRCA1 mutation databases of unclassified variants for their effects on exon inclusion. Analysis of 21 BRCA1 variants using minigene assays revealed a single exon-skipping mutation c.231G > T. Comprehensive mutagenesis of an adjacent 12-nt segment showed that this silent mutation resulted in a higher level of exon skipping than the 35 other single-nucleotide substitutions. Exon inclusion levels of mutant constructs correlated significantly with predicted splicing enhancers/silencers, prompting the development of two online utilities freely available at http://www.dbass.org.uk. EX-SKIP quickly estimates which allele is more susceptible to exon skipping, whereas HOT-SKIP examines all possible mutations at each exon position and identifies candidate exon-skipping positions/substitutions. We demonstrate that the distribution of exon-skipping and disease-associated substitutions previously identified in coding regions was biased toward top-ranking HOT-SKIP mutations. Finally, we show that proteins 9G8, SC35, SF2/ASF, Tra2, and hnRNP A1 were associated with significant alterations of BRCA1 exon 6 inclusion in the mRNA. Together, these results facilitate prediction of exonic substitutions that reduce exon inclusion in mature transcripts.
dcterms:title
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
skos:prefLabel
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
skos:notation
RIV/68378050:_____/11:00390255!RIV13-AV0-68378050
n12:predkladatel
n13:ico%3A68378050
n3:aktivita
n7:Z
n3:aktivity
Z(AV0Z50520514)
n3:cisloPeriodika
4
n3:dodaniDat
n6:2013
n3:domaciTvurceVysledku
n16:7195052
n3:druhVysledku
n14:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n5:predkladatel
n3:idSjednocenehoVysledku
222739
n3:idVysledku
RIV/68378050:_____/11:00390255
n3:jazykVysledku
n19:eng
n3:klicovaSlova
RNA; BRCA1; splicing; gene
n3:klicoveSlovo
n11:BRCA1 n11:splicing n11:RNA n11:gene
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[496E5496057D]
n3:nazevZdroje
Human Mutation
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
8
n3:rokUplatneniVysledku
n6:2011
n3:svazekPeriodika
32
n3:tvurceVysledku
Copson, E. Vorechovsky, I. Johnson, P. Raponi, M. Eccles, D. Baralle, D. Kralovicova, J. Divina, Petr
n3:wos
000288464100016
n3:zamer
n18:AV0Z50520514
s:issn
1059-7794
s:numberOfPages
9
n8:doi
10.1002/humu.21458