The Near Naked Hairless (HrN) Mutation Disrupts Hair Formation but is not Due to a Mutation in the Hairless Coding Region

Journal Article · Mon Jan 01 00:00:00 EST 2007 · Journal Of Investigative Dermatology

DOI:https://doi.org/10.1038/sj.jid.5700755· OSTI ID:930846

Liu, Yutao ^[1]; Das, Suchita ^[1]; Olszewski, Robert Edward ^[1]; Culiat, Cymbeline T ^[1]; Carpenter, D A ^[1]; Sundberg, John P ^[1]; Soteropoulos, Patricia ^[2]; Liu, Xiaochen ^[3]; Doktycz, Mitchel John ^[1]; Michaud, III, Edward J ^[1]; Voy, Brynn H ^[1]

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1. ORNL
2. Center for Applied Genomics
3. Lawrence Livermore National Laboratory (LLNL)

Near naked hairless (HrN) is a semi-dominant mutation that arose spontaneously and was suggested by allelism testing to be an allele of mouse Hairless (Hr). HrN mice differ from other Hr mutants in that hair loss appears as the postnatal coat begins to emerge, as opposed to failure to initiate the first postnatal hair cycle, and that the mutation displays semi-dominant inheritance. We sequenced the Hr cDNA in HrN/HrN mice and characterized the pathological and molecular phenotypes to identify the basis for hair loss in this model. HrN/HrN mice exhibit dystrophic hairs that are unable to consistently emerge from the hair follicle, while HrN/+ mice display a sparse coat of hair and a milder degree of follicular dystrophy than their homozygous littermates. DNA microarray analysis of cutaneous gene expression demonstrates that numerous genes are downregulated in HrN/HrN mice, primarily genes important for hair structure. By contrast, Hr expression is significantly increased. Sequencing the Hr coding region, intron-exon boundaries, 5'- and 3'- UTR and immediate upstream region did not reveal the underlying mutation. Therefore HrN does not appear to be an allele of Hr but may result from a mutation in a closely linked gene or from a regulatory mutation in Hr.

• Research Organization: Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Mouse Genetics Research Facility
• Sponsoring Organization: USDOE Office of Science (SC)
• DOE Contract Number: DE-AC05-00OR22725
• OSTI ID: 930846
• Journal Information: Journal Of Investigative Dermatology, Vol. 127, Issue 7; ISSN 0022-202X
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
DNA
GENES
HAIR
HAIR FOLLICLES
MICE
MUTANTS
MUTATIONS
TESTING