Genetic Analysis of Hereditary Gingival Fibromatosis Associated SOS-1 Missense Variant of Uncertain Significance in Caenorhabditis elegans
Ashley Turner, Biology
10:30-10:40am | Houston Cole Library, 11th Floor
Hereditary gingival fibromatosis (HGF) is a disorder that leads to fibrous gingival overgrowth in the mouth. Researchers have identified that genetic mutations in the SOS-1 gene can be responsible for HGF. The goal of this study is to examine the potential impact of an HGF associated SOS-1 missense variant of uncertain clinical significance (VUS). Studies in C. elegans have revealed the nematode ortholog sos-1 which allows comparative studies. We examined the evolutionary conservation of missense SOS-1 variants across human, C. elegans, and other species. A SOS-1 VUS was identified through ClinVar to be conserved across human, C. elegans, and other species. Multiple sequence alignments were carried out using Benchling. The conserved missense VUS occurs at SOS-1 c.3793T>G (p. Ser1265Ala). The VUS leads to an amino acid class change from polar serine to nonpolar alanine that might result in a change in the encoded protein’s structure. Current bioinformatic experiments underway include a gene mutational analysis, PolyPhen-2 analysis, and protein modeling to explore the potential pathogenicity of the VUS. If these findings support further investigation, we will examine the VUS in vivo through C. elegans. Future experimentation would include designing primers to amplify the VUS region in C. elegans sos-1 using polymerase chain reaction (PCR) and a CRISPR RNA guide to target sos-1, microinjection of CRISPR-Cas9 reagents to generate the VUS-sos-1 C. elegans model, and screening and phenotyping of the identified VUS model. This study aims to provide an assessment of the HGF associated VUS shedding light on its clinical significance.
student research, biology
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Patel, Himani, "Genetic Analysis of Hereditary Gingival Fibromatosis Associated SOS-1 Missense Variant of Uncertain Significance in Caenorhabditis elegans" (2023). JSU Student Symposium 2023. 34.