Mutation analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization

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• 作者：Roman Solc^a ; ^{roman.solc@natur.cuni.cz} ; Michaela Klugerova^a ; ^{Mickey.007@seznam.cz} ; Josef Vcelak^b ; ^{jvcelak@endo.cz} ; Alice Baxova^c ; ^{baxova@vfn.cz} ; Miloslav Kuklik^b ; ^d ; ^{honza.kuklik@volny.cz} ; Jan Vseticka^e ; ^{jan.vseticka55@gmail.com} ; Rastislav Beharka^f ; ^{rbeharka@fnbrno.cz} ; Katerina Hirschfeldova^c ; ^{khirs@lf1.cuni.cz}
• 关键词：Alternative splicing ; Chromosomal rearrangement ; Mutation ; NGS ; Promoter
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：30-36
• 全文大小：321 K
• 卷排序：464

文摘

TRPS1 gene aberration is responsible for 78% of TRPS syndromes. Promoter, 3′, and 5′UTR organization is indicative of low single allele expression. Putative IRES element within the 5′UTR of transcripts 1 and 3 Putative alternative promoter (Inr element) upstream of transcript 2