Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon.

ABSTRACT:

Background

The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways.

Results

qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript,

SUBMITTER: Yang WJ 

PROVIDER: S-EPMC7301526 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature