GENETIC-BASIS OF VARIABLE EXON-9 SKIPPING IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MESSENGER-RNA

被引：417
作者：
CHU, CS
TRAPNELL, BC
CURRISTIN, S
CUTTING, GR
CRYSTAL, RG
机构：
[1] JOHNS HOPKINS UNIV HOSP, DEPT PEDIAT, BALTIMORE, MD 21205 USA
[2] JOHNS HOPKINS UNIV HOSP, CTR MED GENET, BALTIMORE, MD 21205 USA
来源：
NATURE GENETICS | 1993年 / 3卷 / 02期
关键词：
D O I：
10.1038/ng0293-151
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：151 / 156
页数：6
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