The Search for Bardet-Biedl Syndrome BBSome Genes in Tetrahymena

Abstract

Bardet-Bied l Syndrome (BBS) is a disease that causes retinal dystrophy, obesity, postaxial polydactyly, learning disa bilities, renal involvement, and male hypogenitalism. BBS is an autosomal recessive disease and is genetically heterogeneous. There are 18 genes to date that have been found that when mutated lead to most cases of BBS. However only 7 of the genes make up a protein complex known as the BBSome (BBS 1,2,4,5,7,8, and 9) The BBSome is a protein complex that functions in primary cilium biogenesis. Thus, our research focuses on determining if the BBS genes that make up the BBSome are present in Tetrahymena thermophi/a. We performed RT-PCR to test if each of the 7 genes would have cDNA bands present in the agarose gel plates, which we then compared to the gDNA ladder bands to determine whether or not the gene was being transcribed into RNA and made into a protein, and this would suggest that the BBS gene is present in the etrahymena genome.