Background A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes: normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10 year time span. Methods Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ1 gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland sheepdog (SS, n = 74), Australian shepherd (AS, n = 52), Nova Scotia duck tolling retriever (NS, n = 20) and rough collie (RC, n =16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS). Results Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively. Conclusion The results support the usefulness of this type of genetic analysis to optimize care in dogs. The results support the usefulness of CEA mutated alleles analysis to optimize dogs’ care procedure in breeds where CEA mutation is present and to supply objective informations to be included in breeding programmes and in health risk evaluation in different canine breeds.

Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy / S.P. Marelli, R. Rizzi, A. Paganelli, M. Bagardi, G. Minozzi, P.G. Brambilla, M. Polli. - In: VETERINARY RECORD OPEN. - ISSN 2052-6113. - 9:1(2022 Dec), pp. e26.1-e26.4. [10.1002/vro2.26]

Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy

S. P. Marelli;R. Rizzi;M. Bagardi;G. Minozzi;P. G. Brambilla;M. polli
2022-12

Abstract

Background A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes: normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10 year time span. Methods Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ1 gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland sheepdog (SS, n = 74), Australian shepherd (AS, n = 52), Nova Scotia duck tolling retriever (NS, n = 20) and rough collie (RC, n =16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS). Results Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively. Conclusion The results support the usefulness of this type of genetic analysis to optimize care in dogs. The results support the usefulness of CEA mutated alleles analysis to optimize dogs’ care procedure in breeds where CEA mutation is present and to supply objective informations to be included in breeding programmes and in health risk evaluation in different canine breeds.
Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico
Settore VET/08 - Clinica Medica Veterinaria
29-gen-2022
https://bvajournals.onlinelibrary.wiley.com/doi/epdf/10.1002/vro2.26
Article (author)
File in questo prodotto:
File Dimensione Formato  
Veterinary Record Open - 2022 - Marelli - Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with.pdf

accesso aperto

Descrizione: Articolo principale
Tipologia: Publisher's version/PDF
Dimensione 334.11 kB
Formato Adobe PDF
334.11 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/901182
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact