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

@article{Shimomura2008DisruptionOP,
  title={Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair},
  author={Yutaka Shimomura and Muhammad Wajid and Yoshiyuki Ishii and Lawrence Shapiro and L. I. Petukhova and Derek Gordon and Angela M. Christiano},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={335-339}
}
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… CONTINUE READING
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