Dysregulation in Spatiotemporal Expression ofHMX1Coordinated by Multifaceted Enhancers Drives an Auricular Disorder
Xiaopeng Xu,
Qi Chen,
Qingpei Huang
et al.
Abstract:Enhancers, through the combinatorial action of transcription factors (TFs), dictate both the spatial specificity and the levels of gene expression, and their aberrations can result in diseases. The association betweenHMX1and its downstream enhancer with ear deformities has been previously documented. However, the pathogenic variations and molecular mechanisms underlying the bilateral constricted ear (BCE) malformations remain unclear. This study identifies a copy number variation (CNV) encompassing three enhan… Show more
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