Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis

摘要

Autosomal recessive woolly hair/hypotrichosis (ARWH/H: OMIM #278150/604379/611452) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The disease was recently shown to be caused by mutations in either the lipase H (LIPH) or the P2RY5 gene . The LIPH gene encodes a phospholipase A1 family member which produces lysophosphatidic acid (LPA) from phosphatidic acid . LPA is an extracellular mediator which possesses many biological functions. The P2RY5 gene encodes a G protein-coupled receptor, known as P2Y5, which has recently been shown to be a LPA receptor. Both LIPH and P2Y5 are abundantly expressed in human hair follicles, where their expression overlaps in the inner root sheath . Thus, it has been postulated that LIPH and P2Y5 are components of a common signaling pathway which plays a crucial role in hair growth in humans .