title: 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 alpha-helical rod domain of KRT71 protein. Identification of the Re mutation (Krt71(Re)) enables us to further understand the biological function of KRT71.
authors.affiliation: Graduate School of Medicine, Kyoto University, Kyoto, Japan. tkuramot@anim.med.kyoto-u.ac.jp
authors.forename: Takashi
authors.initials: T
authors.lastname: Kuramoto
authors.forename: Ryuji
authors.initials: R
authors.lastname: Hirano
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kuwamura
authors.forename: Tadao
authors.initials: T
authors.lastname: Serikawa
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D016370:Gene Products, rex / Q000235:genetics*; D006801:Humans; D053564:Keratins, Hair-Specific / Q000737:chemistry / Q000235:genetics*; D008968:Molecular Conformation; D009154:Mutation; D016133:Polymerase Chain Reaction; D051381:Rats; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D016370:Gene Products, rex; D053564:Keratins, Hair-Specific; D004247:DNA