HUMAN AND MURINE FMR-1 - ALTERNATIVE SPLICING AND TRANSLATIONAL INITIATION DOWNSTREAM OF THE CGG-REPEAT

被引:207
作者
ASHLEY, CT
SUTCLIFFE, JS
KUNST, CB
LEINER, HA
EICHLER, EE
NELSON, DL
WARREN, ST
机构
[1] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,ATLANTA,GA 30322
[2] EMORY UNIV,SCH MED,DEPT BIOCHEM,ATLANTA,GA 30322
[3] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322
[4] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
[5] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030
关键词
D O I
10.1038/ng0793-244
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the human FMR-1 has been reported. We report here the isolation and characterization of cDNA clones encoding the murine homologue, fmr-1, which exhibit marked sequence identity with the human gene, including the conservation of the CGG repeat. A conserved ATG downstream of the CGG repeat in human and mouse and an in-frame stop codon in other human 5' cDNA sequences demarcate the FMR-1 coding region and confine the CGG repeat to the 5' untranslated region. We also present evidence for alternative splicing of the FMR-1 gene in mouse and human brain and show that one of these splicing events alters the FMR-1 reading frame, predicting isoforms with novel carboxy termini.
引用
收藏
页码:244 / 251
页数:8
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