The Functional Genomics Research Team brings together a world-class group of experts with diverse backgrounds in membrane transporters and in transcriptional and regulatory genomics. The UCSF investigators with expertise in transporter biology include Kathleen Giacomini, Deanna Kroetz and Leslie Benet who participated in the last funding cycle. They made significant contributions in characterizing the function of amino acid variants and basal promoter regions of ABC and SLC membrane transporters. In this funding cycle, these investigators will continue their active role and expertise to direct the studies of characterizing the function of non-coding region (promoter, UTRs region and enhancer region) variants of membrane transporters in cells and mouse models. In planning the renewal application, the group felt that they needed to phenotypically characterize more variants and to extend their studies beyond amino acid variants and basal promoter region variants. To this end, Nadav Ahituv was recruited in the forth funding year of the last funding cycle to the project to complement and extend the existing expertise in transcriptional and gene regulation. His expertise and knowledge in comparative genomic strategies and regulatory element analysis have led to discoveries of regulatory sequence variation in the non-coding regions of genes associated with human congenital abnormalities and other clinically relevant phenotypes. Collectively, the Functional Genomics Research Team provides outstanding diverse and complementary expertise in experimental methods to characterize and to map the functional regions and the sequence variants of these regions of the membrane transporters in the upcoming five years. In addition to the investigators mentioned above, Hobart Harris and Xin Chen will support our pharmacogenomics studies with their individual expertise in initiating and setting standard protocols to accrue and to bank kidney and liver tissues. These unique and ethnically diverse kidney and liver tissue samples are valuable for determining transporter expressions and also in identifying and supporting the findings from our functional studies. This team will also work closely with the computational genomics team to identify key regulatory and functional regions in the transporter genes.
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