Molecular Basis for the rhino (hr)Phenotype: A Nonsense Mutation in the MousehairlessGene |
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Authors: | Wasim Ahmad Andrei A Panteleyev John P Sundberg Angela M Christiano |
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Institution: | aDepartment of Dermatology, Columbia University, College of Physicians and Surgeons, New York, New York, 10032;cDepartment of Genetics and Development, Columbia University, College of Physicians and Surgeons, New York, New York, 10032;bThe Jackson Laboratory, Bar Harbor, Maine, 04609 |
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Abstract: | The hairless (hr) and rhino (hrrh) mutations are autosomal recessive allelic mutations that map to mouse Chromosome 14. Both hairless and rhino mice have a number of skin and nail abnormalities and develop a striking form of total alopecia at approximately 3–4 weeks of age. The molecular basis of the hairless mouse phenotype was previously found to be the result of a murine leukemia proviral insertion in intron 6 of thehrgene that resulted in aberrant splicing. In this study, we report a 2-bp substitution in exon 4 of thehrgene in a second allele ofhr,rhino 8J (hrrh-8J), leading to a nonsense mutation. These findings document the molecular basis of the rhino phenotype for the first time and suggest that rhino is a functional knock-out of thehrgene. |
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