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

表观遗传调控在发育和疾病中起着重要作用。我们最近发现了一个新的染色质修饰非特异性致死(NSL)复合体，它是果蝇基因组中X染色体和常染色体基因的主要转录调节因子。有趣的是，该复合体的核心成分KANSL1的单倍体不足最近被证明与微缺失综合征有关，这是人类一种新的基因组疾病。在个体中受影响的临床重要特征包括心脏缺陷和肾脏异常。在这项计划中，我们计划对小鼠肾组织中的KANSL1和MOF进行彻底的生理和生化分析。

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.