Investigation of TCOF1 Variations: An Insight to Treacher Collins Syndrome


Investigation of TCOF1 Variations: An Insight to Treacher Collins Syndrome



Faculty Mentor

Jenna Ridlen, Biology


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1:00-1:10pm | Houston Cole Library, 11th Floor


Treacher Collins Syndrome (TCS) is a genetic disease in which the development of facial bones and tissues is affected. It is very rare, affecting approximately one in every 50,000 people. TCS is caused by a mutation in one of three genes: TCOF1, POLR1C, or POLR1D. Although it can occur in all three of these, the TCOF1 gene accounts for 81 to 93 percent of cases. Why a mutation in these genes causes TCS revolves around the fact that these proteins aid in the production of ribosomal RNA (rRNA), which helps assemble amino acids into new proteins. A mutation causes the amount of rRNA produced to decrease, which then triggers some facial-building cells to destroy themselves (apoptosis). Symptoms of TCS are primarily physical, so it typically has no effect on mental stability or intelligence. Unfortunately, there is no cure for Treacher Collins. However, some of the symptoms can be treated by means of genetic counseling classes, physical aids such as hearing aids, or various surgeries that may be able to lessen the effects of this disease. In this project, two different mutations of the TCOF1 gene are studied to determine the pathogenicity of each. Both missense mutations, F39L and E621V, are of uncertain significance. The pathogenicity, structure, and the conservation of variants across species are under investigation via multiple public databases and molecular prediction software including Simple Clinvar, PolyPhen 2, AlphaFold, Uniprot, and YASARA. Through these tools, a conclusion will be formed about the likely pathogenicity of each variant, and any patterns discovered will be noted and shared with the greater scientific community.


student research, biology


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Investigation of TCOF1 Variations: An Insight to Treacher Collins Syndrome