論文 - 詳細
| RRC ID | 6636 |
|---|---|
| 著者 | Kuramoto T, Hirano R, Kuwamura M, Serikawa T. |
| タイトル | Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene. |
| ジャーナル | J Vet Med Sci |
| Abstract |
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. |
| 巻・号 | 72(7) |
| ページ | 909-12 |
| 公開日 | 2010-7-1 |
| DOI | 10.1292/jvms.09-0554 |
| PII | JST.JSTAGE/jvms/09-0554 |
| PMID | 20179389 |
| MeSH | Alternative Splicing Animals DNA / genetics DNA Primers Exons / genetics Gene Products, rex / genetics* Humans Keratins, Hair-Specific / chemistry Keratins, Hair-Specific / genetics* Molecular Conformation Mutation Polymerase Chain Reaction Rats Sequence Deletion* |
| IF | 1.049 |
| 引用数 | 19 |
| WOS 分野 | VETERINARY SCIENCES |
| リソース情報 | |
| ラット | KFRS5A/Kyo(strainID=920) |