UC San Diego

My project involves looking at sequence variation among individuals. Recent studies have shown that CNVs encompass a larger source of variation than SNPs, with 12% of the human genome thought to contain CNVs. CNVs are a form of structural variation, greater than 1kb, that is found in a variable number of copies in the human genome. The goal of my project is to accurately characterize and define a CNV that is implicated with hair type and disease susceptibility. We have thus far not seen an association between CNV with hair type among the hair morphogen genes tested so far including BMP6 and WNT3 in a small sample study. Psoriasis has a known genetic component that has been linked through Genome Wide Association Studies to a region on chromosome 6p21.3. Through previous studies, this region is composed of many genes with SNP markers that have been associated with psoriasis patients. Of these genes, we have thus far analyzed BDEF4, PSORS1C1, and CDSN. Buccal swabs from 28 psoriasis and 8 control patients were collected. Utilizing qPCR analysis we have observed no significant change in copy number from BDEF4 but a reproducible 2-fold reduction of an intronic region of PSORS1C1 in psoriasis patients. A closer look at this region revealed that it also contained an exon of CDSN on the reverse strand. Furthermore, analysis on the remaining portion of exon 2 of CDSN revealed a consistent decrease among afflicted patients with this copy number variant in 19 out of 28 psoriasis patients