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

J Vet Med Sci. 2010 Jul;72(7):909-12. doi: 10.1292/jvms.09-0554. Epub 2010 Feb 23.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Animals
  • DNA / genetics
  • DNA Primers
  • Exons / genetics
  • Gene Products, rex / genetics*
  • Humans
  • Keratins, Hair-Specific / chemistry
  • Keratins, Hair-Specific / genetics*
  • Molecular Conformation
  • Mutation
  • Polymerase Chain Reaction
  • Rats
  • Sequence Deletion*

Substances

  • DNA Primers
  • Gene Products, rex
  • Keratins, Hair-Specific
  • DNA