A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

October 2003 in “ Genetics ”

Yoshiaki Kikkawa, Ayumi Oyama, Rie Ishii, Ikuo Miura, Takashi Amano, Yoshiyuki Ishii, Yasuhiro Yoshikawa, Hiroshi Masuya, Shigeharu Wakana, Toshihiko Shiroishi, Choji Taya, Hiromichi Yonekawa

mK6irs1 Krt2-6g caracul mutation α-helical rod domain ENU mutagenesis autosomal dominant amino acid deletion amino acid substitution

Studysummary This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

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The study identified the mK6irs1/Krt2-6g gene on mouse chromosome 15 as a strong candidate for causing the wavy hair mutation known as caracul (Ca) in mice. This mutation was found to be autosomal dominant and independent of a transgenic insertion. Researchers discovered that mutations in this gene consistently occurred in conserved positions of the α-helical rod domain, with four alleles sharing an identical amino acid deletion (N 140 del) and a fifth allele having a substitution (A 431 D). An additional allele induced by ENU mutagenesis also showed a substitution (L 424 W). These findings suggested a mutation hotspot in the Ca locus and provided insights into the genetic pathway for hair formation, potentially implicating this gene in human hair and skin diseases.

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