Letter abstract
Nature Genetics 40, 335 - 339 (2008)
Published online: 24 February 2008 | doi:10.1038/ng.100
Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Yutaka Shimomura1, Muhammad Wajid1, Yoshiyuki Ishii1, Lawrence Shapiro2, Lynn Petukhova1, Derek Gordon3 & Angela M Christiano1,4
The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported1, 2. To identify a gene involved in controlling hair texture, we performed genetic linkage analysis in six families of Pakistani origin with autosomal recessive woolly hair (ARWH; OMIM 278150). All six families showed linkage to chromosome 13q14.2–14.3 (Z = 17.97). In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein–coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.
- Department of Dermatology, Columbia University, College of Physicians & Surgeons, 630 West 168th Street, VC15 204a, New York, New York 10032, USA.
- Department of Biochemistry & Molecular Biophysics and Department of Ophthalmology, Columbia University, College of Physicians & Surgeons, 635 West 165th Street, Ninth Floor, New York, New York, 10032, USA.
- Department of Genetics, Rutgers University, 145 Bevier Road Life Sciences Building, Room 128, Piscataway, New Jersey 08854, USA.
- Department of Genetics & Development, Columbia University, College of Physicians & Surgeons, 701 West 168th Street, Room 1602, New York, New York 10032, USA.
Correspondence to: Angela M Christiano1,4 e-mail: amc65@columbia.edu
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