The GRSF1 gene encodes a protein that binds to RNAs containing a 14-base-long G-rich element. By interacting with RNA, the GRSF1 protein plays a role in nuclear post-transcriptional events, particularly in mRNA polyadenylation and tRNA processing. While GRSF1 is yet to be fully characterized, studies of its orthologue gene have identified a role in the regulation of mitochondrial gene expression. Knockdown studies have also suggested its role in embryonic brain development, the morphogenesis of embryonic epithelium and anterior/posterior pattern specification.
The GRSF1 gene is located on the long arm of chromosome 4. It spans a length of 27.4 kb of DNA and its coding sequence is spread across 11 exons. The protein encoded this gene has a molecular mass of 53 kDa and consists of 480 amino acids. An additional 36 kDa isoform of the GRSF1 protein exists due to an alternatively spliced transcript variant. While the gene is widely expressed in the human body, overexpression is seen in bone marrow stromal cells and peripheral blood mononuclear cells.
Monies et al. (2017) described the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 12-year-old female, presented with speech delay, intellectual disability, learning disability, developmental regression and refractory epilepsy. Using whole exome sequencing, a heterozygous mutation (c.88C>T, p.R30X) was identified in exon 3 of the patient’s GRSF1 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene had been implicated in brain development. The authors noted that further studies were required to independently confirm this association.
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