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

November 2002 in “ Journal of biological chemistry/The Journal of biological chemistry ”

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

high sulfur hair keratin-associated protein KAP1 gene family hKAP1.1A hKAP1.6 hKAP1.7 hKAP1.1B hKAP1.2 hKAP1.8A hKAP1.8B hKAP1.9 hKAP1.3 intragenic deletion intragenic duplication hair structure keratin-associated protein KAP1

TLDR Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.

The study analyzed polymorphisms in the human high sulfur hair keratin-associated protein 1 (hKAP1) gene family in 100 Japanese and 100 Caucasian individuals. It identified several polymorphic alleles, including hKAP1.1B, hKAP1.3, hKAP1.6, hKAP1.8A, hKAP1.8B, and hKAP1.9, with hKAP1.6 and hKAP1.8B being specific to the Japanese population. These polymorphisms likely arose from intragenic deletion or duplication events and were confirmed to be expressed in hair follicles. The study highlighted significant genetic diversity between populations and suggested that these variations might influence hair structure in a population-specific manner.

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21 / 21 results

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Research cited in this study

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research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

research Structure and Hair Follicle-Specific Expression of Genes Encoding the Rat High Sulfur Protein B2 Family

research Isolation and Characterization of Mouse High-Glycine/Tyrosine Proteins

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