Faculty Mentor

Dr. Elaine Vanterpool

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Description

Melanoma is a skin cancer that occurs when melanocytes, pigment producing cells in the skin, reproduce uncontrollably. It is a severe form of skin cancer that is characterized by its aggressive proliferation and resistance to treatment. It poses a significant health risk to the elderly, who may be more susceptible due to cumulative sun exposure and immune system decline. The gene targeted in research is TERT. Telomerase reverse transcriptase (TERT), is a ribonucleoprotein (RNP) that synthesizes telomeric DNA. The purpose of this study was to identify and assess the pathogenicity of TERT variants associated with melanoma. Materials such as Simple ClinVar, PolyPhen-2, and SIFT were used to observe any changes that this gene made in the overall protein structure and function. Three amino acid position switches were under analysis- position 412 from Histidine to Tyrosine, 694 from Valine to Methionine, and 772 from Tyrosine to Cytosine. PolyPhen-2 predicted that mutations in Tyrosine to Cytosine at position 412 and Valine to Methionine at position 694 would be damaging to the protein function, having a score of 1.000 and 0.999 respectively. In comparison, the mutation in Histidine to Tyrosine 412 was predicted to be benign, having a score of 0.184. SIFT further confirmed that these mutations would impact protein function. Swiss models showed slight but significant changes in the 3D structure of the protein due to the mutations. This study contributes to the existing research regarding the implications of the TERT gene associated with melanoma.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Analysis of TERT Gene associated with Melanoma

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Biology Commons

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