International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

POSTER 56 - A spontaneous Mouse Hair Mutation, Hague Caused by Insertional Mutagenesis in the Hair Follicle-Specific Type II Cytokeratin Gene

Dr. Atsushi Yoshiki
RIKEN Tsukuba Institute
3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan

Co-Authors: 1)Fujiwara K, 1)Poirier C, 1)Yoshida-Noro C, 1)Inoue J, 1)Kitasaka Y, 2)Ichikawa Y, 3)Guenet J-L, 4)Kusakabe M
Institutions: 1)Exp Anim Res Div, Bio-Resource Center, RIKEN Tsukuba Institute, 2)Dept. 1 st  Anatomy, Nihon Medical University, 3)Unite de Genetique des Mammiferes, Institut Pasteur 4)ALOKA, Co. Ltd.

Mouse hair mutants are useful animal models to study molecular mechanism of hair development and human hair disease.  A spontaneous mouse hair mutation, Hague (Japanese word for bald) on Chromosome 15 was recovered in C3H/HeN mice colony.  The purpose of this study is to clarify pathological characteristics of the mutant hair follicle and to identify the causative gene.  The original mutant was recovered as wavy-hair mouse. In homozygote mice lost most hairs around 1 month of age. This mutation was shown to be unstable since its transmission could be switched from semi-dominant to recessive.  Histopathological analyses demonstrated that the significant abnormality was detected in the inner root sheath (IRS).  To identify the causative gene and the nature of the mutation, a YAC and BAC physical map of the critical region was constructed.  Meanwhile, subtraction of differentially expressed genes between mutant and normal mice skin recovered keratin2-6g as a candidate gene. This keratin2-6g was reported as a novel type II cytokeratin, mK6irs expressed in the IRS (Aoki et al. J Invest Dermatol 116, 2001). Northern analyses indicated that the transcripts from the mutant were larger in size and less in amount than those of normal controls.  We will report that the Hague mutation was caused by insertional sequence within the keratin2-6g, and the difference of semi-dominant and recessive hague alleles.

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