Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.
Congenital atrichia is a rare form of hereditary human hair loss, characterized by the complete shedding of hair shortly after birth, together with the formation of papular lesions on the skin. Recently, we cloned the human homolog of the mouse hairless gene and identified pathogenic mutations in several families with inherited congenital atrichia. Here, we present the genomic organization of the human hairless gene (HGMW-approved symbol HR), which spans over 14 kb on chromosome 8p12 and is organized into 19 exons. In addition, we report the identification of a 22-bp deletion mutation in exon 3 of the hairless gene in a large consanguineous Arab Palestinian family from a village near Jerusalem, Israel. These findings extend the body of evidence implicating mutations in the hairless gene as an underlying cause of congenital atrichia in humans.
Ahmad
W
W
Department of Dermatology, Columbia University, New York, New York 10032, USA.
Zlotogorski
A
A
Panteleyev
A A
AA
Lam
H
H
Ahmad
M
M
Faiyaz ul Haque
M
M
Abdallah
H M
HM
Dragan
L
L
Christiano
A M
AM
D000505:Alopecia / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns; D007557:Israel; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution; D014157:Transcription Factors; D014158:Transcription, Genetic
C490267:HR protein, human; D011506:Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; D004247:DNA