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.
98 citations,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
22 citations,
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
53 citations,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
98 citations,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
27 citations,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.