Spontaneous KRT5 Gene Mutation in Rhesus Macaques (Macaca mulatta): A Novel Nonhuman Primate Model of Epidermolysis Bullosa Simplex
| Autor: | Anne D. Lewis, Samuel M. Peterson, Betsy Ferguson, Lois M. A. Colgin, Margaret M L Terry, Amanda L. Johnson |
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| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Mutation Keratin 14 integumentary system General Veterinary biology 040301 veterinary sciences 04 agricultural and veterinary sciences Gene mutation biology.organism_classification medicine.disease medicine.disease_cause 0403 veterinary science Keratin 5 030207 dermatology & venereal diseases 03 medical and health sciences Rhesus macaque Epidermolysis bullosa simplex Cytokeratin 0302 clinical medicine medicine Epidermolysis bullosa |
| Zdroj: | Veterinary Pathology. 57:344-348 |
| ISSN: | 1544-2217 0300-9858 |
| Popis: | Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by increased skin and mucous membrane fragility. Most cases are caused by mutations in keratin 5 ( KRT5) and keratin 14 ( KRT14). Mutations of these genes result in cytoskeletal disruption of the basal keratinocytes. Gross and histopathologic findings of 2 clinically affected homozygous rhesus macaques with an insertion variant mutation in KRT5 are described and compared with 6 deceased phenotypically normal animals that were heterozygous for the KRT5 insertion variant. Animals that were homozygous for the KRT5 insertion variant were stillborn and had widespread loss of the epidermis. Microscopic examination confirmed severe ulceration and basal cell vacuolation with basilar vesicle formation in the remaining intact epidermis. Immunohistochemistry for cytokeratin 5 demonstrated lack of epidermal immunoreactivity in homozygotes. DNA sequencing identified a 34–base pair insertion variant in exon 5 of the KRT5 gene. To our knowledge, this is the first report of epidermolysis bullosa in rhesus macaques. |
| Databáze: | OpenAIRE |
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