| RRC ID |
5339
|
| Author |
Tanaka S, Miura I, Yoshiki A, Kato Y, Yokoyama H, Shinogi A, Masuya H, Wakana S, Tamura M, Shiroishi T.
|
| Title |
Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament.
|
| Journal |
Genomics
|
| Abstract |
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.
|
| Volume |
90(6)
|
| Pages |
703-11
|
| Published |
2007-12-1
|
| DOI |
10.1016/j.ygeno.2007.07.013
|
| PII |
S0888-7543(07)00182-6
|
| PMID |
17920809
|
| MeSH |
Amino Acid Motifs
Amino Acid Sequence
Animals
Base Sequence
DNA / genetics
Genetic Linkage
Hair / metabolism
Hair / pathology
Hair Follicle / metabolism
Hair Follicle / pathology
Immunohistochemistry
Intermediate Filaments / chemistry
Intermediate Filaments / metabolism
Keratins, Hair-Specific / biosynthesis
Keratins, Hair-Specific / chemistry*
Keratins, Hair-Specific / genetics*
Mice
Mice, Mutant Strains
Molecular Sequence Data
Mutation*
Phenotype
Phylogeny
Sequence Deletion
Sequence Homology, Amino Acid
|
| IF |
6.205
|
| Times Cited |
21
|
|
WOS Category
|
BIOTECHNOLOGY & APPLIED MICROBIOLOGY
GENETICS & HEREDITY
|
| Resource |
| Mice |
GSC0105 |
