Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

    January 2009 in “ Nature Genetics ”
    Yaran Wen, Yang Liu, Yiming Xu, Yiwei Zhao, Rui Hua, Kaibo Wang, Miao Sun, Yuanhong Li, Sen Yang, Xue Jun Zhang, Roland Kruse, Sven Cichon, Regina C. Betz, Markus M. Nöthen, M.A.M. van Steensel, Michel van Geel, P.M. Steijlen, Daniel Hohl, Marcel Huber, Giles Dunnill, Cameron Kennedy, A.G. Messenger, Colin S. Munro, Alessandro Terrinoni, Alain Hovnanian, Christine Bodemer, Y. De Prost, Amy S. Paller, Alan D. Irvine, Rodney Sinclair, Jack Green, Donghao Shang, Qing Liu, Yang Luo, Li Jiang, Hong Duo Chen, Wilson H.Y. Lo, W.H. Irwin McLean, Chun Di He, Xue Zhang
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    TLDR Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
    In the 2009 study, researchers found that mutations in an inhibitory upstream open reading frame (uORF) of the human hairless (HR) gene transcript, designated U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), a form of genetic hair loss. The study included a large Chinese family and 18 additional families from various ancestral backgrounds. The U2HR is conserved among mammals and mutations in this region, such as loss of initiation, delayed termination codon, and nonsense and missense mutations, lead to increased translation of the main HR protein. This overexpression of HR protein due to the loss of U2HR's regulatory function is implicated in the pathogenesis of MUHH, suggesting that precise regulation of HR protein levels is vital for hair growth and maintenance.
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