A Novel Mutation in Hr Causes Abnormal Hair Follicle Morphogenesis in Hairpoor Mouse, an Animal Model for Marie Unna Hereditary Hypotrichosis

June 2009 in “ Mammalian genome ”

In‐Cheol Baek, Jeong Ki Kim, Kyu-Hyuk Cho, Dal-Sun Cha, Jae-Woo Cho, Jong Keun Park, Chang-Woo Song, Sungjoo Kim Yoon

TLDR A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

The study identified a novel T-to-A transversion mutation in the hairless (Hr) gene of hairpoor mice, leading to abnormal hair follicle morphogenesis. Heterozygous mice had sparse and short hair, while homozygous mice were completely bald, with hair follicles turning into cyst-like structures by postnatal day 21. The mutation, located at nucleotide position 403 in exon 2, affected an upstream open reading frame (uORF) and was similar to mutations found in Marie Unna Hereditary Hypotrichosis (MUHH) patients, making hairpoor mice a valuable model for studying MUHH.

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