Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
December 2007
in “
Genomics
”
TLDR Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
The study identified mutations in the helix termination motif of type I IRS keratin genes Krt25 and Krt27 in mice with hair coat mutations, which impaired the assembly of keratin intermediate filaments and led to abnormal hair and vibrissae phenotypes. Specifically, Re and M100573 had nonsynonymous base substitutions in Krt25, while Rewc had a deletion in Krt27. These mutations disrupted the keratin filament network, highlighting the essential role of the helix termination motif in keratin filament assembly and the formation of hair follicles, providing insights into hair growth and alopecia.
