Progressive hair loss and myocardial degeneration in rough coat mice: reduced lysyl oxidase-like (LOXL) in the skin and heart
| Autor: | Masando Hayashi, Subarna A. Khan, Katalin Csiszar, Youngho Kim, Kimiko Hayashi, Howard C. Passmore, Ian Hornstra, Claude Jourdan Le Saux, Ben Fogelgren, Tongyu Cao |
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| Rok vydání: | 2004 |
| Předmět: |
Sebaceous gland
Male Pathology medicine.medical_specialty amine oxidase Genetic Linkage Lysyl oxidase Dermatology Biochemistry Mice Dermis Downregulation and upregulation medicine Animals RNA Messenger sebaceous gland Molecular Biology Mice Inbred BALB C hair follicle integumentary system biology Myocardium Alopecia Cell Biology Hair follicle medicine.disease Phenotype Molecular biology Immunohistochemistry Mice Mutant Strains Elastin Mice Inbred C57BL medicine.anatomical_structure Hair loss biology.protein Female Amino Acid Oxidoreductases Collagen Epidermis |
| Zdroj: | The Journal of investigative dermatology. 123(5) |
| ISSN: | 0022-202X |
| Popis: | The rough coat (rc) is a spontaneous recessive mutation in mice. To identify the mutated gene, we have characterized the rc phenotype and initiated linkage mapping. The rc mice show growth retardation, cyclic and progressive hair loss, hyperplastic epidermis, abnormal hair follicles, cardiac muscle degeneration, and reduced amount of collagen and elastin in the skin and heart. The rc locus was mapped at 32.0 cM on chromosome 9, close to the loxl gene. Lysyl oxidase-like (LOXL) protein is a novel copper-containing amine oxidase that is required for the cross-linking of elastin and collagen in vitro. LOXL is expressed at high levels in the skin and heart, where the rc mice show strong phenotype. The expression pattern and the genetic proximity to rc suggested loxl as a potential candidate gene. In rc mice, the loxl mRNA was reduced in the skin and the LOXL protein in the heart, dermis, atrophic hair follicles, and sebaceous glands. No mutations, however, were identified within the coding region of loxl, and offspring from rc/rc and loxl null mice crossing were phenotypically normal. Based on these results, loxl appears non-allelic to rc. Heart- and skin-specific downregulation of LOXL in rc mice, however, may contribute to the extracellular matrix alterations and the rc phenotype. |
| Databáze: | OpenAIRE |
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