Splicing of exon 9a in FMR1 transcripts results in a truncated FMRP with altered subcellular distribution.

Gene(2020)

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摘要
•We identified a new 46 bp microexon terming the exon 9a.•Inclusion of exon 9a introduces an in-frame termination codon.•Exon 9a-containing transcripts could produce a 34 kDa truncated protein.•Truncated protein displayed both nuclear and cytoplasmic localization.
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关键词
FXS,AS,FMR1,NMD,ASDs,FMRP,HSF,ASD,PTC,SNPs,RGG,CHX,NLS,NES,KH2
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