Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

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

doi:https://doi.org/10.1038/ng.100

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

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

Rutgers, The State University

Research output: Contribution to journal › Article › peer-review

164 Scopus citations

Abstract

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 reported. 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.

Original language	American English
Pages (from-to)	335-339
Number of pages	5
Journal	Nature Genetics
Volume	40
Issue number	3
DOIs	https://doi.org/10.1038/ng.100
State	Published - Mar 2008

ASJC Scopus subject areas

Genetics

Access to Document

https://doi.org/10.1038/ng.100

Cite this

@article{3cd8cc52cb4f4be98c54f3962c2a9ee2,

title = "Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair",

abstract = "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 reported. 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.",

author = "Yutaka Shimomura and Muhammad Wajid and Yoshiyuki Ishii and Lawrence Shapiro and Lynn Petukhova and Derek Gordon and Christiano, {Angela M.}",

year = "2008",

month = mar,

doi = "https://doi.org/10.1038/ng.100",

language = "American English",

volume = "40",

pages = "335--339",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

}

TY - JOUR

T1 - Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

AU - Shimomura, Yutaka

AU - Wajid, Muhammad

AU - Ishii, Yoshiyuki

AU - Shapiro, Lawrence

AU - Petukhova, Lynn

AU - Gordon, Derek

AU - Christiano, Angela M.

PY - 2008/3

Y1 - 2008/3

N2 - 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 reported. 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.

AB - 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 reported. 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.

UR - http://www.scopus.com/inward/record.url?scp=39749127117&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=39749127117&partnerID=8YFLogxK

U2 - https://doi.org/10.1038/ng.100

DO - https://doi.org/10.1038/ng.100

M3 - Article

C2 - 18297072

SN - 1061-4036

VL - 40

SP - 335

EP - 339

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this