Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

February 2008 in “ Nature genetics ”

Yutaka Shimomura, Muhammad Wajid, Yoshiyuki Ishii, Lawrence Shapiro, Lynn Petukhova, Derek Gordon, Angela M. Christiano

P2RY5 G protein–coupled receptor autosomal recessive woolly hair ARWH inner root sheath hair follicles chromosome 13q14.2–14.3 GPCR woolly hair hair texture

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.