| First Author | Tanaka S | Year | 2007 |
| Journal | Genomics | Volume | 90 |
| Issue | 6 | Pages | 703-11 |
| PubMed ID | 17920809 | Mgi Jnum | J:130100 |
| Mgi Id | MGI:3770737 | Doi | 10.1016/j.ygeno.2007.07.013 |
| Citation | Tanaka S, et al. (2007) Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament. Genomics 90(6):703-11 |
| abstractText | Two classical mouse hair coat mutations, Rex (Re) and Rex wavy coat (Re(wc)), are linked to the type I inner root sheath (IRS) keratin genes of chromosome 11. An N-ethyl-N-nitrosourea-induced mutation, M100573, also maps close to the type I IRS keratin genes. In this study, we demonstrate that Re and M100573 mice bear mutations in the type I IRS gene Krt25; Re(wc) mice bear an additional mutation in the type I IRS gene Krt27. These three mutations are located in the helix termination motif of the 2B alpha-helical rod domain of a type I IRS keratin protein. Immunohistological analysis revealed abnormal foam-like immunoreactivity with an antibody raised to type II IRS keratin K71 in the IRS of Re/+ mice. These results suggest that the helix termination motif is essential for the proper assembly of types I and II IRS keratin protein complexes and the formation of keratin intermediate filaments. |
