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Insight into the lysosomal storage disorder cystinosis: genetic interactions with ERS1 in Saccharomyces cerevisiae (963.1)

Cystinosis is an inherited pediatric lysosomal storage disorder caused by loss‐of‐function mutations in the gene CTNS, which encodes the Cystinosin protein. While the causative gene and primary biochemical defect have been identified, it is still unclear exactly which pathways contribute to the cell death that is observed in cystinotic patients. To investigate the implications of the loss of Cystinosin, we have employed the power of the model organism Saccharomyces cerevisiae, a model organism for higher eukaryotes. Yeast is an organism that is amenable to genetic manipulation and has a fully sequenced and highly annotated genome. With the understanding that the yeast protein Ers1p is the ortholog of human Cystinosin, the overall aim of this research was to better understand the role of Ers1p in yeast by identifying genes that interact with the cognate gene ERS1. Using data derived during a functional genomics screen, we propose to investigate genes that exhibit increased or decreased expression in the absence of ERS1. Our findings will not only contribute to our understanding of cystinosis, but also to primordial pathways in yeast and other eukaryotes.