GENETIC-BASIS OF VARIABLE EXON-9 SKIPPING IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MESSENGER-RNA
GENETIC-BASIS OF VARIABLE EXON-9 SKIPPING IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MESSENGER-RNA
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DOI：
10.1038/ng0293-151
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发表时间：
1993-02-01
期刊：
影响因子：
30.8
通讯作者：
CRYSTAL, RG
中科院分区：
文献类型：
--
作者：
CHU, CS;TRAPNELL, BC;CRYSTAL, RG
囊性纤维化跨膜传导调节因子（CFTR）mRNA转录本（外显子9-）中外显子9的可变框内跳跃发生在呼吸上皮中。为了探索这一事件的遗传基础，我们评估了124例患者（38例囊性纤维化（CF），86例无CF）的呼吸道上皮细胞和血液白细胞。我们发现在外显子9剪接分支/受体位点的多聚胸苷段的长度与外显子9- CFTR mRNA转录本的比例之间呈反比关系。这些结果强烈地表明了体内调节CFTR mRNA转录物的转录后加工的遗传基础。
Variable in-frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9-) occurs in the respiratory epithelium. To explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an inverse relationship between the length of the polythymidine tract at the exon 9 splice branch/acceptor site and the proportion of exon 9- CFTR mRNA transcripts. These results strongly indicate a genetic basis in vivo modulating post-transcriptional processing of CFTR mRNA transcripts.