Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

The study identified mutations in the SNRPE gene, which encodes a core protein of the spliceosome, as a cause of autosomal-dominant hypotrichosis simplex, a hereditary form of alopecia. Researchers found specific mutations in families from Spain, the UK, and Tunisia, which were predicted to affect the structure and function of SNRPE, impacting the splicing process. Although no major splicing abnormalities were observed, subtle changes in hair follicle splicing patterns could not be excluded. The study linked a core spliceosome component to hair loss, expanding the understanding of genetic factors in hair growth and suggesting that SNRPE mutations might lead to tissue-specific defects in hair development.