TLDR Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
Researchers identified that mutations in the P2RY5 gene, which encodes a G protein–coupled receptor, were responsible for autosomal recessive woolly hair (ARWH) in six Pakistani families. Genetic linkage analysis showed a strong association with chromosome 13q14.2–14.3. P2RY5 is expressed in the inner root sheath of hair follicles, and its disruption was found to underlie ARWH, revealing a new gene involved in determining human hair texture.
138 citations,
June 2007 in “Experimental cell research” Only a few hair-specific keratins are linked to inherited hair disorders.
194 citations,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
78 citations,
June 2003 in “Journal of the American Academy of Dermatology” Curly hair shape is determined by the hair bulb.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
52 citations,
January 2013 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
44 citations,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
12 citations,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
