Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene
スポンサーリンク
概要
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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.
著者
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KUWAMURA Mitsuru
Laboratory of Veterinary Pathology, Osaka Prefecture University
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Serikawa Tadao
Institute For Laboratory Animals Faculty Of Medicine Kyoto University
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庫本 高志
京都大学大学院医学研究科附属動物実験施設
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Kuramoto Takashi
Carcinogenesis Division National Cancer Center Research Institute
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Kuramoto Takashi
Institute Of Laboratory Animals Faculty Of Medicine Kyoto University
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庫本 高志
京都大学 大学院医学研究科 附属動物実験施設
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Kuramoto Takashi
Inst. Of Lab. Animals Graduate School Of Medicine Kyoto Univ.
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Kuwamura Mitsuru
Lab. Of Veterinary Pathology Osaka Prefecture Univ.
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HIRANO Ryuji
Laboratory of Veterinary Pathology, Osaka Prefecture University
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Kuwamura Mitsuru
Laboratory Of Veterinary Pathology Osaka Prefecture University
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