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ORIGINAL RESEARCH ARTICLE

The Novel Tetratricopeptide Repeat Domain 7 Mutation, Ttc7^fsn-Jic, with Deletion of the TPR-2B Repeat Causes Severe Flaky Skin Phenotype

Shuji Takabayashi^*, Shuichi Iwashita, Tsukasa Hirashima and Hideki Katoh^*,,1

^* Institute for Experimental Animals, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan; Otsuka GEN Research Institute, Otsuka Pharmaceutical Co. Ltd., Tokushima, Tokushima 771-0192, Japan; and Central Institute for Experimental Animals, Kawasaki, Kanagawa 216-0002, Japan

To whom requests for reprints should be addressed at ¹ Institute for Experimental Animals, Hamamatsu Univeristy School of Medicine, 1-20-1 Handayama, Hamamatsu, Shizuoka 431-3192, Japan. E-mail: hideki-k{at}hama-med.ac.jp or hhidekik{at}yahoo.co.jp

We carried out molecular analyses of the novel flaky skin mutation, Ttc7^fsn-Jic (a synonym for fsn^Jic), which we found in a previous study. It was revealed that this mutation involved a genomic in-frame deletion including exons 9 and 10 of the Ttc7 gene, and that the genomic deletion in Ttc7 ^fsn-Jic may disrupt the tetratricopeptide repeat-2B domain of the TTC7 protein. Based on a comparison of three Ttc7 mutations, including Ttc7^fsn-J (a synonym for fsn) and Ttc7^fsn-hea (a synonym for hea), it was suggested that either exon 9 or exon 10 or both may play a more important role than the other exons of the Ttc7 gene. Ttc7 gene expression analyses using Northern blotting revealed that Ttc7 mRNA is expressed in 11 tissues, except muscle. In conclusion, we confirmed that the Ttc7 ^fsn-Jic mutation, as well as the Ttc7^fsn-J and Ttc7 ^fsn-hea mutations, is responsible for abnormal phenotypes observed in various tissues of mice with the flaky skin mutation.

Key Words: flaky skin • psoriasis • fsn • Ttc7 • TPR • exon deletion