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- W4255884909 abstract "Abstract The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms are remain elusive. In previous study, we identified a new cryptic exon of 140bp 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. qRT-PCR results showed that this novel exon was commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140bp sequence are only found in the genomes of primates. To explore the biological functions of the new transcript, recombinant eukaryotic expression vectors and lentiviral overexpression vectors were constructed. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, a few genes including BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways was significantly influenced when the truncated FMRP was overexpressed. Our work emphasized the notion that the alternative splicing of FMR1 gene is complex which may in a large part account for the multiple functions of FMRP protein." @default.
- W4255884909 created "2022-05-12" @default.
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- W4255884909 date "2020-01-15" @default.
- W4255884909 modified "2023-09-29" @default.
- W4255884909 title "Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon" @default.
- W4255884909 doi "https://doi.org/10.21203/rs.2.20949/v1" @default.
- W4255884909 hasPublicationYear "2020" @default.
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