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Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr).

Publication ,  Journal Article
Liu, Y; Sundberg, JP; Das, S; Carpenter, D; Cain, KT; Michaud, EJ; Voy, BH
Published in: Vet Pathol
January 2010

Animal models carrying mutations in the hairless (Hr) gene provide a rich resource for study of hair follicle biology. A spontaneous mouse mutant with a phenotype strikingly similar to rhino mutants of Hr arose spontaneously in the mouse facility at Oak Ridge National Laboratory. Sequence analysis of Hr in these mutants uncovered a nonsense mutation in exon 12, designated as Hr(rh-R) (rhino, Oak Ridge). The mutation led to significant reduction in Hr mRNA levels, predicted to be due to nonsense-mediated decay. Histological analysis indicated dilated hair follicle infundibula at 14 days of age that rapidly became filled with cornified material. Microarray analyses revealed that expression levels of many genes involved in keratinocyte differentiation, epidermal regeneration, and wound healing were significantly upregulated before morphological detection of the phenotype, suggesting their role in onset of the Hr(rh-R) phenotype. Identification of this new Hr allele and the underlying molecular alterations allows further understanding of the role of Hr in hair follicle biology.

Duke Scholars

Published In

Vet Pathol

DOI

EISSN

1544-2217

Publication Date

January 2010

Volume

47

Issue

1

Start / End Page

167 / 176

Location

United States

Related Subject Headings

  • Veterinary Sciences
  • Transcription Factors
  • Phenotype
  • Oligonucleotide Array Sequence Analysis
  • Mice, Hairless
  • Mice
  • Hair Follicle
  • Genes
  • Gene Expression Profiling
  • Codon, Nonsense
 

Citation

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Liu, Y., Sundberg, J. P., Das, S., Carpenter, D., Cain, K. T., Michaud, E. J., & Voy, B. H. (2010). Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). Vet Pathol, 47(1), 167–176. https://doi.org/10.1177/0300985809352970
Liu, Y., J. P. Sundberg, S. Das, D. Carpenter, K. T. Cain, E. J. Michaud, and B. H. Voy. “Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr).Vet Pathol 47, no. 1 (January 2010): 167–76. https://doi.org/10.1177/0300985809352970.
Liu Y, Sundberg JP, Das S, Carpenter D, Cain KT, Michaud EJ, et al. Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). Vet Pathol. 2010 Jan;47(1):167–76.
Liu, Y., et al. “Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr).Vet Pathol, vol. 47, no. 1, Jan. 2010, pp. 167–76. Pubmed, doi:10.1177/0300985809352970.
Liu Y, Sundberg JP, Das S, Carpenter D, Cain KT, Michaud EJ, Voy BH. Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). Vet Pathol. 2010 Jan;47(1):167–176.
Journal cover image

Published In

Vet Pathol

DOI

EISSN

1544-2217

Publication Date

January 2010

Volume

47

Issue

1

Start / End Page

167 / 176

Location

United States

Related Subject Headings

  • Veterinary Sciences
  • Transcription Factors
  • Phenotype
  • Oligonucleotide Array Sequence Analysis
  • Mice, Hairless
  • Mice
  • Hair Follicle
  • Genes
  • Gene Expression Profiling
  • Codon, Nonsense