Allele-specific splicing effects on DKKL1 and ZNF419 transcripts in HeLa cells

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• 作者：Grace Martin^a ; ¹ ; S. Duygu Selcuklu^a ; ¹ ; Katherine Schouest^a ; Victoria Nembaware^b ; Peter C. McKeown^a ; Cathal Seoighe^c ; Charles Spillane^a ; ^{charles.spillane@nuigalway.ie}
• 关键词：SNPs ; single nucleotide polymorphisms ; RT-PCR ; reverse-transcriptase polymerase chain reaction ; SNP ; single nucleotide polymorphism ; QTL ; quantitative trait locus ; EDB ; extra domain B ; MiHA ; minor histocompatibility antigen ; ESEs ; exonic splice enhancers ; sQTLs ; splicing quantitative trait loci
• 刊名：Gene
• 出版年：2017
• 出版时间：20 January 2017
• 年：2017
• 卷：598
• 期：Complete
• 页码：107-112
• 全文大小：422 K
• 卷排序：598

文摘

Allele-specific splicing produces different RNA isoforms from different alleles. Allele-specific splicing SNPs can be predicted using bioinformatic approaches. In HeLa cells, we show that four predicted SNPs cause allele-specific splicing. Allele-specific splicing (e.g. in DKKL1 and ZNF419) may affect human diseases.