Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
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DOI：
10.1292/jvms.09-0554
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发表时间：
2010-07-01
影响因子：
1.2
通讯作者：
Serikawa, Tadao
中科院分区：
文献类型：
--
作者：
Kuramoto, Takashi;Hirano, Ryuji;Serikawa, Tadao
7号染色体上的大鼠常染色体显性Rex(Re)突变导致Rel+的卷毛和Re/Re大鼠的脱发。病理组织学显示，REL+组大鼠毛囊和毛发扩张，有不规则的角质层被覆，Re/Re组大鼠的影响更为严重。我们发现Re是角蛋白71(Krt71)基因内含子I剪接受体部位的7个碱基的缺失，位于Re关键染色体区域，在毛发形成中起重要作用。该缺失在KRT71蛋白的α-螺旋杆状结构域引发6个氨基酸的框内缺失(p.Va1149_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。
The rat autosomal dominant Rex (Re) mutation on chromosome 7 causes curly hair in Rel+ and hair loss in Re/Re rats. Histopathologically, the Rel+ 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 I 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.Va1149_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.