Genomic organization of the human hairless gene (HR) and identification ofa mutation underlying congenital atrichia in an Arab Palestinian family

Congenital atrichia is a rare form of hereditary human hair loss, character ized by the complete shedding of hair shortly after birth, together with th e formation of papular lesions on the skin. Recently, we cloned the human h omolog of the mouse hairless gene and identified pathogenic mutations in se veral families with inherited congenital atrichia. Here, we present the gen omic organization of the human hairless gene (HGMW-approved symbol HR), whi ch spans over 14 kb on chromosome 8p12 and is organized into 19 exons. In a ddition, we report the identification of a 22-bp deletion mutation in exon 3 of the hairless gene in a large consanguineous Arab Palestinian family fr om a village near Jerusalem, Israel. These findings extend the body of evid ence implicating mutations in the hairless gene as an underlying cause of c ongenital atrichia in humans. (C) 1999 Academic Press.