Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene
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Updated: Jun 15, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Takashi Kuramoto1, Ryuji Hirano, Mitsuru Kuwamura
1Graduate School of Medicine, Kyoto University, Kyoto, Japan. tkuramot@anim.med.kyoto-u.ac.jp
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.
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