Polymorphisms in the Human High Sulfur Hair Keratin-Associated Protein 1, KAP1, Gene Family

The study analyzed polymorphisms in the human high sulfur hair keratin-associated protein (KAP1) gene family in 100 Japanese and 100 Caucasian individuals, identifying population-specific alleles and novel genes. It found that hKAP1.1A, hKAP1.6, and hKAP1.7 are size polymorphisms of hKAP1.1B, while hKAP1.2 and three new genes (hKAP1.8A, hKAP1.8B, and hKAP1.9) are size polymorphisms of hKAP1.3. No polymorphisms were found for hKAP1.4 and hKAP1.5. The study suggested these polymorphisms arose through intragenic deletion or duplication events and identified population-specific alleles, with hKAP1.6 and hKAP1.8B more frequent in Japanese individuals. Despite genetic variations, no significant phenotypic consequences on hair structure were observed, and further research was recommended to understand the influence of KAP polymorphisms on hair structure and their evolutionary significance.