Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs
Abstract
:1. Introduction
2. Materials and Methods
2.1. Inclusion and Exclusion Criteria
2.2. Clinical Records
2.3. Sampling and Shipping
2.4. DNA Analysis
2.5. Statistical Analysis
3. Results
4. Discussion
Author Contributions
Acknowledgments
Conflicts of Interest
References
- Gross, T.L.; Ihrke, P.J.; Walder, E.J.; Affolter, V.K. Diseases with abnormal cornification. In Skin Diseases of the Dog and the Cat—Clinical and Histopathological Diagnosis, 2nd ed.; Gross, T.L., Ihrke, P.J., Walder, E.J., Affolter, V.K., Eds.; Wiley-Blackwell Publishing: Oxford, UK, 2005; pp. 174–179. ISBN 978-0-632-06452-6. [Google Scholar]
- Credille, K.M.; Barnhart, K.F.; Minor, J.S.; Dunstan, R.W. Mild recessive epidermolysis hyperkeratosis associated with a keratin 10 donor splice site variant in a family of Norfolk terrier dogs. Br. J. Dermatol. 2005, 153, 51–58. [Google Scholar] [CrossRef] [PubMed]
- Mauldin, E.A.; Credille, K.M.; Dunstan, R.W.; Casal, M.L. The clinical and morphologic features of nonepidermolytic ichthyosis in the Golden Retriever. Vet. Pathol. 2008, 45, 174–180. [Google Scholar] [CrossRef] [PubMed]
- Cadiergues, M.-C.; Patel, A.; Shearer, D.H.; Fermor, R.; Miah, S.; Hendricks, A. Cornification defect in the Golden Retriever: Clinical, histopathological, ultrastructural and genetic characterization. Vet. Dermatol 2008, 19, 120–129. [Google Scholar] [CrossRef] [PubMed]
- Mauldin, E.A. Canine ichthyosis and related disorders of cornification in small animals. Vet. Clin. N. Am. Small Anim. Pract. 2013, 43, 89–97. [Google Scholar] [CrossRef] [PubMed]
- Bauer, A.; Waluk, D.P.; Galichet, A.; Timm, K.; Jagannathan, V.; Sayar, B.S.; Wiener, D.J.; Dietschi, E.; Müller, E.J.; Roosje, P.; et al. A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet. 2017, 13. [Google Scholar] [CrossRef] [PubMed]
- Guaguere, E.; Bensignor, E.; Küry, S.; Degorce-Rubiales, F.; Muller, A.; Herbin, L.; Fontaine, J.; André, C. Clinical, histopathological and genetic data of ichthyosis in Golden Retriever: A prospective study. J. Small Anim. Pract. 2009, 50, 227–235. [Google Scholar] [CrossRef] [PubMed]
- Grall, A.; Guaguere, E.; Planchais, S.; Grond, S.; Bourrat, E.; Hausser, I.; Hitte, C.; Le Gallo, M.; Derbois, C.; Kim, G.J.; et al. PNPLA1 variants cause autosomal recessive congenital ichthyosis in Golden Retriever dogs and human. Nat. Genet. 2012, 44, 140–147. [Google Scholar] [CrossRef] [PubMed]
- Antagene Laboratory Website. Ichthyosis of Golden Retriever Breed. Available online: www.antagene.com/en/ict-ichthyosisGolden-Retriever (accessed on 1 April 2016).
- Owczarek-Lipska, M.; Thomas, A.; Andrè, C.; Hölzer, S.; Leeb, T. Häufigkeit von Gendefekten in ausgewählten europäischen Retriever Populationen. Schweiz. Arch. Tierheilkd. 2011, 153, 418–420. [Google Scholar] [CrossRef] [PubMed]
- Roething, A.; Schildt, K.J.; Welle, M.M.; Wildermuth, B.E.; Neiger, R.; Thom, N. Is “milk crust” a transient form of Golden Retriever ichthyosis? Vet. Dermatol. 2015, 26, 265–269. [Google Scholar] [CrossRef] [PubMed]
- Kienesberger, P.C.; Oberer, M.; Lass, A.; Zechner, R. Mammalian patatin domain containing proteins: A family with diverse lipolytic activities involved in multiple biological functions. J. Lipid Res. 2009, 50. [Google Scholar] [CrossRef] [PubMed]
- Jensen, C.N. Ichthyosis in the Golden Retriever—Variation of Clinical Manifestations and Breeding Aspects in Golden Retrievers that Are Homozygous for the PNPLA1 Variant. Master’s Thesis, University of Copenhagen, Copenhagen, Denmark, 2014. [Google Scholar]
n | Wild Type | Heterozygous | Homozygous | |
---|---|---|---|---|
Male | 20 (42%) | 6 (30%) | 12 (60%) | 2 (10%) |
Female | 28 (54%) | 4 (14%) | 11 (39%) | 13 (46%) |
Total | 48 | 10 (21%) | 23 (48%) | 15 (31%) |
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Graziano, L.; Vasconi, M.; Cornegliani, L. Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs. Vet. Sci. 2018, 5, 48. https://doi.org/10.3390/vetsci5020048
Graziano L, Vasconi M, Cornegliani L. Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs. Veterinary Sciences. 2018; 5(2):48. https://doi.org/10.3390/vetsci5020048
Chicago/Turabian StyleGraziano, Lisa, Mauro Vasconi, and Luisa Cornegliani. 2018. "Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs" Veterinary Sciences 5, no. 2: 48. https://doi.org/10.3390/vetsci5020048