Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis

Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis

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. While a HMX1 downstream enhancer is associated with ear malformations, the mechanisms underlying...

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Main Authors: Xiaopeng Xu, Qi Chen, Qingpei Huang, Timothy C. Cox, Hao Zhu, Jintian Hu, Xi Han, Ziqiu Meng, Bingqing Wang, Zhiying Liao, Wenxin Xu, Baichuan Xiao, Ruirui Lang, Jiqiang Liu, Jian Huang, Xiaokai Tang, Jinmo Wang, Qiang Li, Ting Liu, Qingguo Zhang, Stylianos E. Antonarakis, Jiao Zhang, Xiaoying Fan, Huisheng Liu, Yong-Biao Zhang
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59735-w
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