Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene

Abstract

The rat autosomal dominant Rex (Re) mutation on chromosome 7 causes curly hair in Re/+ and hair loss in Re/Re rats. Histopathologically, the Re/+ rat showed dilatation of the hair follicle and hairs with irregularly-coated cuticles, and the Re/Re rat showed more severe effects. We identified Re as a 7-bp deletion at the splicing acceptor site of intron 1 of the keratin 71 (Krt71) gene, which is located within the Re critical chromosomal region and plays an important role in hair formation. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the α-helical rod domain of KRT71 protein. Identification of the Re mutation (Krt71Re) enables us to further understand the biological function of KRT71.