Kuramoto Takashi, Hirano Ryuji, Kuwamura Mitsuru, Serikawa Tadao
Graduate School of Medicine, Kyoto University, Kyoto, Japan.
J Vet Med Sci. 2010 Jul;72(7):909-12. doi: 10.1292/jvms.09-0554. Epub 2010 Feb 23.
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.
大鼠7号染色体上的常染色体显性Rex（Re）突变导致Re/+大鼠出现卷毛，Re/Re大鼠出现脱发。组织病理学上，Re/+大鼠表现为毛囊扩张和毛发角质层不规则覆盖，Re/Re大鼠表现出更严重的影响。我们确定Re是位于Re关键染色体区域内的角蛋白71（Krt71）基因内含子1剪接受体位点的7个碱基对缺失，该基因在毛发形成中起重要作用。该缺失导致KRT71蛋白α-螺旋杆结构域出现6个氨基酸的框内缺失（p.Val149_Gln154del）。Re突变（Krt71(Re)）的鉴定使我们能够进一步了解KRT71的生物学功能。
