Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert
January 2004
in “
The journal of investigative dermatology/Journal of investigative dermatology
”
TLDR A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
The study identified a second domain of high sulfur keratin-associated protein (KAP) genes on human chromosome 21q23, comprising 16 KAP genes and two pseudogenes, categorized into KAP10 and KAP12 families. KAP10 proteins were larger and had high cysteine content, while KAP12 proteins were smaller with slightly higher cysteine content. mRNA expression of these genes was localized to the hair fiber cuticle, indicating a specialized role in hair structure. Promoter analysis revealed several enhancer elements, expanding the understanding of human KAP genes and their expression in hair follicles.