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The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. | LitMetric

AI Article Synopsis

  • Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by the absence of the SMN1 gene, affecting motor neuron function.
  • Research found unexpectedly high levels of SMN2 transcripts with exon 7 included in the testis of certain genetically modified mice, leading to the discovery of proteins that interact with SMN RNA.
  • Among these proteins, hnRNP Q was identified as a key modulator of splicing, influencing whether exon 7 is included or skipped, suggesting its potential as a therapeutic target for SMA.

Article Abstract

Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the homozygous loss of the SMN1 gene. The human SMN2 gene has a C-to-T transition at position +6 of exon 7 and thus produces exon 7-skipping mRNAs. However, we observed an unexpectedly high level of exon 7-containing SMN2 transcripts as well as SMN protein in testis of smn(-/-) SMN2 transgenic mice. Using affinity chromatography, we identified several SMN RNA-associating proteins in mouse testis and human HeLa cells, including hnRNP Q. The major hnRNP Q isoform, Q1, directly bound SMN exon 7 in the vicinity of nucleotide +6. Overexpression of hnRNP Q1 promoted the inclusion of exon 7 in SMN2, probably by activating the use of its upstream 3' splice site. However, the minor isoforms Q2/Q3 could antagonize the activity of hnRNP Q1 and induced exon 7 exclusion. Intriguingly, enhanced exon 7 inclusion was also observed upon concomitant depletion of three hnRNP Q isoforms. Thus, differential expression of hnRNP Q isoforms may result in intricate control of SMN precursor mRNA splicing. Here, we demonstrate that hnRNP Q is a splicing modulator of SMN, further underscoring the potential of hnRNP Q as a therapeutic target for SMA.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2573304PMC
http://dx.doi.org/10.1128/MCB.01332-08DOI Listing

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