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

Research cited in this study

research HKAP1.6 And HKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins Are Expressed In The Hair Follicle Cortex

research The Catalog of Human Hair Keratins

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

research Pmg-1 and Pmg-2 Constitute a Novel Family of KAP Genes Differentially Expressed During Skin and Mammary Gland Development

research The Catalog of Human Hair Keratins

research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice

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

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

research Loose Anagen Syndrome And Loose Anagen Hair

research Characterization of a Gene Encoding a Cysteine-Rich Keratin Associated Protein Synthesized Late in Rabbit Hair Follicle Differentiation

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research Regulation of Keratin Gene Expression in Hair Follicle Differentiation

research Structure and Expression of Genes for a Class of Cysteine-Rich Proteins of the Cuticle Layers of Differentiating Wool and Hair Follicles

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