Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system
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- 作者：Francisco J. Gonzalez-Paredes ; Elena Ramos-Trujillo ; Felix Claverie-Martin ; fclamar@gobiernodecanarias.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：ADPKD ; autosomal dominant polycystic kidney disease ; EBV ; Epstein&ndash ; Barr virus ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; ISE ; intronic splicing enhancer ; ISS ; intronic splicing silencer ; NMD ; nonsense-mediated mRNA decay ; PC1 ; polycystin-1 ; PC2 ; polycystin-2 ; pET01 ; expression vector Exontrap ; RT-PCR ; reverse transcription-polymerase chain reaction ; SAV ; splice affecting variant ; SNP ; single nucleotide polymorphism ; SNV ; splice neutral variant
- 刊名：Gene
- 出版年：2016
- 出版时间：1 March 2016
- 年：2016
- 卷：578
- 期：1
- 页码：117-123
- 全文大小：377 K
文摘
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Thirteen PKD2 exonic mutations were studied in minigenes and three of them produced alterations in pre-mRNA splicing
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Mutation c.1532A > T (p.D511V) caused skipping of exon 6 and incorporation of exon 6 lacking its 3′ end
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Synonymous variant c.1716G > A (p.K572K) led to exon 7 skipping
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Mutation 2657A > G (p.D886G) resulted in incorporation of an incomplete exon 14 in the mRNA
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These results highlight the importance to evaluate the effects of exonic single nucleotide substitutions in ADPKD