Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

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The identification of causal mutations of rare monogenic disorders provides an insight into the function of single genes. We herein report an example which demonstrates that the bovine species presents an excellent system for identifying these inherited phenotypes. The individual health status of modern dairy cows is well monitored, and emerging disorders are routinely recorded. An Italian breeder of ~500 Pezzata Rossa cattle reported a case of congenital streaked hairlessness. Three additional, closely related cows, showing similar hairless pattern following Blaschko’s lines were subsequently observed. A causative mutation was discovered in a previously uncharacterized rRNA processing gene. Cows possessing a single copy of this TSR2 mutation located on the X chromosome showed a mosaic skin pattern which is very likely due to the skewed inactivation of the X-chromosome, also known as lyonization. The expression of TSR2 was shown in skin and hair of cattle and mice. This study is the first to implicate an essential role for TSR2 during hair follicle development and reflects once more the potential of using rare diseases in cows to gain additional insights into mammalian biology.

Vyšlo v časopise: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS Genet 11(7): e32767. doi:10.1371/journal.pgen.1005427
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005427

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