A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia

The study confirmed a direct link between the gene Prss53 and hair curvature, as well as skeletal dysplasia, by using CRISPR/Cas9 to generate Prss53-mutated rabbits. Homozygous Prss53-/- rabbits displayed curved hair and severe skeletal malformations, while heterozygous Prss53+/- rabbits did not show these abnormalities. The curved hair was associated with denser and less defined cuticular septation and incomplete hair follicle compartments, alongside decreased expression of keratinocyte differentiation genes. Additionally, Prss53-/- rabbits had increased mortality rates, reduced plasma calcium, and lower serum alkaline phosphatase levels, suggesting that disrupted calcium metabolism may contribute to the observed hair and skeletal phenotypes. This research provided the first animal evidence of Prss53's role in hair shape and highlighted its importance in calcium metabolism.