Characterization of Human Keratin-Associated Protein 1 Family Members

    June 2003 in “ ˜The œjournal of investigative dermatology. Symposium proceedings/˜The œJournal of investigative dermatology symposium proceedings ”
    Yutaka Shimomura, Noriaki Aoki, Michael A. Rogers, Lutz Langbein, Jürgen Schweizer, Masaaki Ito
    TLDR Mutations in hKAP1 genes may cause hereditary hair disorders.
    The study characterized the human keratin-associated protein 1 (hKAP1) family, identifying eight hKAP1 genes with unique pentapeptide repeat structures in the repetitive I domain, which likely defined their functional characteristics. These genes were thought to have arisen through gene duplication and mutations. Expression studies showed that hKAP1 mRNAs were predominantly expressed in the cortical layer of human scalp hair. The research suggested that mutations in hKAP genes could be linked to hereditary hair disorders, similar to known mutations in hair keratin genes causing monilethrix. The findings emphasized the importance of further analysis of hKAP genes to understand hair characteristics and disorders.
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