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.
181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
42 citations,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
8 citations,
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137 citations,
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52 citations,
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3 citations,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
2 citations,
May 2022 in “Stem cell research & therapy” Disrupted stem cell signals in hairpoor mice cause hair loss.
17 citations,
May 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
14 citations,
April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
