期刊
JOURNAL OF VETERINARY MEDICAL SCIENCE
卷 72, 期 7, 页码 909-912出版社
JAPAN SOC VET SCI
DOI: 10.1292/jvms.09-0554
关键词
Krt71; mutation; rat; wavy hair
资金
- Japan Society for the Promotion of Science [21300153]
- Ministry of Health, Labour and Welfare
- Grants-in-Aid for Scientific Research [21300153] Funding Source: KAKEN
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据