Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency

    September 2003 in “ Journal of Investigative Dermatology ”
    Thomas Peters, Reinhard Sedlmeier, Heinrich Büssow, Fabian Runkel, Georg H. Lüers, Dirk Korthaus, Helmut Fuchs, Martin Hrabě de Angelis, Gabi Stumm, A Russ, Rebecca M. Porter, Martin Augustin, Thomas Franz
    TLDR A missing mK6irs1 gene causes hair loss in mice.
    The study on the RCO3 mouse model identified that alopecia was caused by a deficiency in the mK6irs1 gene, due to a 10-bp deletion leading to a frameshift and loss of crucial amino acids necessary for intermediate filament formation. This mutation affected the inner root sheath of hair follicles, specifically disrupting keratinization in Henle's and Huxley's layers, resulting in malformed hair shafts. The research involved 437 individuals and concluded that the absence of mK6irs1 led to structural hair defects and alopecia, emphasizing the gene's essential role in normal hair development. The findings suggested potential parallels in human hair fragility syndromes.
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