A mutation in MAP2 is associated with prenatal hair follicle density

Abstract

Hairlessness is usually a rare trait in pigs; however, in this study, we found hairless (HR) pigs at a relatively high frequency in 1 pig herd. We observed that, the lower hair shaft density of HR pigs could be mainly attributed to the lower hair follicle density, and during the embryonic period, d 39-45 were a critical stage for the formation of the hair follicle. In this regard, d 41 during gestation was a particularly important point. Hair follicle morphogenesis occurring at an early stage of embryo development is similar to humans and mice. Further analyses of association studies based on single-nucleotide polymorphism chip as well as sequence data, mRNA sequencing, immunohistochemistry, and comparative genomics demonstrated that microtubule-associated protein 2 (MAP2) is a key gene responsible for hair follicle density and 1 missense mutation of A-to-G at rs328005415 in MAP2, causing a valine-to-methionine substitution leads to the HR phenotype. Considering the high homology between pigs and humans, our research has some significance for the study of the mechanisms of skin development, hair morphogenesis, and hair loss in humans by showing that the pig may be a more appropriate model in which to study these processes.—Jiang, Y., Jiang, Y., Zhang, H., Mei, M., Song, H., Ma, X., Jiang, L., Yu, Z., Zhang, Q., Ding, X. A mutation in MAP2 is associated with prenatal hair follicle density. FASEB J. 33, 14479-14490 (2019). www.fasebj.org.