Irina N Bespalova , Michael Pranzatelli , Margit Burmeister
{"title":"在剪接受体位点G到C的翻转导致胱抑素B基因的外显子跳跃","authors":"Irina N Bespalova , Michael Pranzatelli , Margit Burmeister","doi":"10.1016/S1383-5726(97)00010-1","DOIUrl":null,"url":null,"abstract":"<div><p>Several mutations have been described in the proteinase inhibitor cystatin B<span><span> gene from individuals affected with progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1). One of these mutations, a 1925G→C transition at the 3′-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a </span>primary transcript of the cystatin B gene in EPM1 patients. In an effort to understand the expression of the 1925G→C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT-PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.</span></p></div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1997-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(97)00010-1","citationCount":"15","resultStr":"{\"title\":\"G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene\",\"authors\":\"Irina N Bespalova , Michael Pranzatelli , Margit Burmeister\",\"doi\":\"10.1016/S1383-5726(97)00010-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Several mutations have been described in the proteinase inhibitor cystatin B<span><span> gene from individuals affected with progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1). One of these mutations, a 1925G→C transition at the 3′-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a </span>primary transcript of the cystatin B gene in EPM1 patients. In an effort to understand the expression of the 1925G→C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT-PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.</span></p></div>\",\"PeriodicalId\":100939,\"journal\":{\"name\":\"Mutation Research/Mutation Research Genomics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S1383-5726(97)00010-1\",\"citationCount\":\"15\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mutation Research/Mutation Research Genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1383572697000101\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mutation Research/Mutation Research Genomics","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1383572697000101","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene
Several mutations have been described in the proteinase inhibitor cystatin B gene from individuals affected with progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1). One of these mutations, a 1925G→C transition at the 3′-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a primary transcript of the cystatin B gene in EPM1 patients. In an effort to understand the expression of the 1925G→C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT-PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.