The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes

April 2008 in “ Journal of Biological Chemistry ”

Naoki Nanashima, Miki Akita, Toshiyuki Yamada, Takeshi Shimizu, Hajime Nakano, Fan Yang, Shigeki Tsuchida

keratin genes hair follicle hypotrichosis chromosome 7q36 non-allelic homologous recombination

TLDR Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.

The study found that the hairless phenotype in Hirosaki hairless rats (HHR) was due to the deletion of an 80-kb genomic DNA segment on chromosome 7q36, which included five basic keratin genes. This deletion, caused by non-allelic homologous recombination, led to the absence of crucial keratin proteins necessary for hair growth, resulting in defective hair follicle formation. The research highlighted the importance of these keratin genes in hair growth and provided the first report of hypotrichosis due to their deletion, suggesting that similar genetic mechanisms could be explored in humans using rodent models.

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The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes

Research cited in this study

research Keratin 17 modulates hair follicle cycling in a TNFα-dependent fashion

research Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat

research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13

research Keratins of the Human Hair Follicle

research Type II Epithelial Keratin 6hf (K6hf) Is Expressed in the Companion Layer, Matrix, and Medulla in Anagen-Stage Hair Follicles

research K6irs1, K6irs2, K6irs3, and K6irs4 Represent the Inner-Root-Sheath-Specific Type II Epithelial Keratins of the Human Hair Follicle1

research Hague: A New Mouse Hair Mutation With an Unstable Semidominant Allele

research The Catalog of Human Hair Keratins

research Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b

research Genetically separable determinants of hair keratin gene expression

research The Catalog of Human Hair Keratins

research WNT Signaling in the Control of Hair Growth and Structure

research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle

research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform

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research The complement of native α-keratin polypeptides of hair-forming cells: A subset of eight polypeptides that differ from epithelial cytokeratins

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