Danbin XuGenetic factors are important in the pathogenesis of complex diseases. My studies have emphasized on systemic lupus erythematosus (SLE) and breast cancer, two diseases predominantly affecting women.
Many studies have suggested that SLE, an autoimmune disease with a wide spectrum of clinical and immunological abnormalities, has a strong genetic background. Several chromosomal regions have been reported to show considerable linkage to SLE. In our project, we will select candidate genes from regions with strong linkage and sequence them for SLE patients of European ancestry to identify genetic variants. We will also identify single nucleotide polymorphisms (SNPs) to perform linkage disequilibrium analysis with haplotype-tagging SNPs. Identification of the sequencing variants and SNPs will enable us to elucidate genetic changes associated with susceptibility to SLE.
As breast cancer is another important area of research in our lab, I am also investigating the molecular mechanism of breast cancer. Together with Tiffany Dovey, I am applying the yeast three-hybrid system to identify target genes of the BRCA1 and BARD1 complex, a two-ring domain complex that has been shown to possess ubiquitin ligase activity. In collaboration with Tom Walsh, I am also working to identify cryptic mutations harbored in BRCA1 and BRCA2 for high-risk breast cancer families using real-time quantitative PCR.