RRC ID 5339
著者 Tanaka S, Miura I, Yoshiki A, Kato Y, Yokoyama H, Shinogi A, Masuya H, Wakana S, Tamura M, Shiroishi T.
タイトル Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament.
ジャーナル 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.
巻・号 90(6)
ページ 703-11
公開日 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
引用数 21
WOS 分野 BIOTECHNOLOGY & APPLIED MICROBIOLOGY GENETICS & HEREDITY
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