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Disentangling the roots of inherited hair disorders

Nature Genetics volume 40, pages 265–266 (2008)Cite this article

Rare syndromes offer unique opportunities to gain insight into central physiological processes. By deciphering the genetic basis of two rare inherited diseases, two studies identify a key role for P2Y5, a G protein–coupled receptor, in hair follicle development.

Over the past years, the hair follicle has become a very trendy platform for studying epithelial cell development and differentiation. Owing to its highly complex architecture and an impressive body of knowledge regarding gene regulation in its various compartments, the hair follicle offers the advantage of being easily amenable to genetic manipulations. Dozens of transgenic and knockout mouse models have been generated, yielding much information on the molecular machinery orchestrating hair follicle formation. However, given that mouse models often do not faithfully reproduce human pathologies, the study of rare monogenic disorders in humans (apart from the obvious clinical relevance) is often invaluable for the discovery of previously unknown physiological pathways. This concept is beautifully demonstrated in reports by Pasternack et al.1 and Shimomura et al.2 on pages 329 and 335 of this issue, which identify the G protein–coupled receptor P2Y5 as a key regulator of hair follicle development.

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Figure 1: Deciphering the pathogenesis of inherited nonsyndromic forms of alopecias reveals pathways regulating hair development.

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  1. Department of Dermatology at the Rambam Health Care Campus and Rappaport Institute, Eli Sprecher is in the Laboratory of Molecular Dermatology, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel. e_sprecher@rambam.health.gov.il,

    Eli Sprecher

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Sprecher, E. Disentangling the roots of inherited hair disorders. Nat Genet 40, 265–266 (2008). https://doi.org/10.1038/ng0308-265

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