VCU Bioinformatics and Bioengineering Summer Institute
Virginia Commonwealth University
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VCU BBSI Closing Symposium 2003

Identifying splice variants in
the Treacher-Collins gene: TCOF1


Greg Ziegler, 3:00 pm

The TCOF1 gene codes for the protein treacle, defects in which are known to cause the craniofacial disorder, Treacher-Collins syndrome. The TCOF1 gene has known orthologs in canine, bovine, mouse, and rhesus monkey genomes (unpublished). Currently little is known about the various structural similarities and differences between the human TCOF1 gene and its orthologs. My research seeks to analyze and compare the various splice variants that have been identified in the different organisms. This will help provide us with an idea of what the similarities and differences are in the function of the treacle protein between the species as well as information on how well the gene has been evolutionarily conserved between the species. After identifying the different splice variants and the differences between the orthologs, we can analyze the differential expression of the genes in the lab to find the role of treacle throughout the development process and hopefully help shed some light on the role that treacle plays on craniofacial development.

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