Characterization of Human Keratin-Associated Protein 1 Family Members

June 2003 in “ The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings ”

Yutaka Shimomura, Noriaki Aoki, Michael A. Rogers, Lutz Langbein, Jürgen Schweizer, Masaaki Ito

keratin-associated protein hKAP1 pentapeptide repeat structures gene duplication mutations cortical layer scalp hair hereditary hair disorders hair keratin genes monilethrix keratin protein hair protein hair disorders hair genes

Studysummary This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

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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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