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

Wen-Jing Yang1,2, Ai-Zhen Yan1, Yong-Jun Xu1

  • 1Department of Clinical Genetics and Experimental Medicine, 900th Hospital of the Joint Logistics Force, Xiamen University School of Medicine, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, 350025, People's Republic of China.

BMC Genetics
|June 20, 2020
PubMed
Abstract

Insights

Researchers identified a novel exon in the FMR1 gene, crucial for fragile X syndrome. This alternative splicing generates a truncated fragile X mental retardation protein (FMRP) influencing key signaling pathways.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • The FMR1 gene encodes fragile X mental retardation protein (FMRP), critical for cognitive function.
  • Alternative splicing (AS) of FMR1 generates diverse FMRP isoforms, but their functions are largely unknown.
  • A novel 140bp exon within intron 9 of the human FMR1 gene was previously identified.

Purpose of the Study:

  • To investigate the biological functions of the newly identified FMR1 exon.
  • To elucidate the signaling pathways affected by the alternatively spliced FMRP variant.

Main Methods:

  • Quantitative reverse transcription PCR (qRT-PCR) for expression analysis.
  • Comparative genomics to assess evolutionary conservation.
  • Recombinant eukaryotic and lentiviral expression vectors for functional studies.

Main Results:

  • The novel exon is expressed in peripheral blood of healthy individuals and conserved in primates.
  • Overexpression of the transcript resulted in a truncated FMRP localized to the nucleus.
  • Truncated FMRP significantly impacted genes within mGluR-LTP/LTD signaling pathways, including BEX1.

Conclusions:

  • A novel, widely expressed FMR1 exon contributes to alternative splicing complexity.
  • This alternative splicing generates a truncated FMRP with functional implications.
  • FMR1 AS likely plays a significant role in the multifaceted functions of FMRP.
Keywords:
Alternative exonAlternative splicingFMR1FMRPFXS

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