The role of epigenetic regulators MOF and KANSL1 in kidney homeostasis (A06)

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Epigenetic regulation plays an important role in development and disease. We have recently identified a new chromatin modifying non-specific lethal (NSL) complex that is a major transcriptional regulator in the Drosophila genome for X chromosomal as well as autosomal genes. Interestingly, haploinsufficiency of KANSL1, a core component of this complex, has recently been shown to be associated with microdeletion syndrome, a novel genomic disorder in humans. Among the clinically important features affected in individuals include heart defects and kidney anomalies. In this proposal, we plan to perform thorough physiological and biochemical analyses of KANSL1 and MOF in renal tissue in mice.