Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling

Mizukami, Keijiro; Yabuki, Akira; Kohyama, Moeko; Kushida, Kazuya; Rahman, Mohammad Mahbubur; Uddin, Mohammad M.; Sawa, Mariko; Yamato, Osamu

doi:10.1016/j.tvjl.2016.05.004

Cited by 14 publications

(14 citation statements)

References 10 publications

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“…According to data from the American Kennel Club [ 1 ], the Collie ranked thirty-fifth or thirty-sixth among all the breeds in the U.S.A. between 2013 and 2015. Based on a report on DM in multiple dog breeds in the U.S.A. [ 6 ], the allele frequency of the c.118G>A mutation in Collies was calculated to be 0.387, which is higher than the frequency (0.138) in Japan, as revealed in the present study. These data suggest that DM may occur more frequently than expected in Collies in the U.S.A. and other countries where the mutant allele frequency is very high.…”

supporting

confidence: 38%

“…However, the data regarding the mutant allele frequency from that study might have been influenced by a bias in sample acquisition or population stratification. Interestingly, the mutant allele frequencies are higher in PWCs (0.792) and Border Collies (0.169) in the U.S.A. than in randomly collected samples from PWCs (0.697) and Border Collies (0.008) in Japan [ 3 , 6 ]. Epidemiological information on the genetic disorders in each breed is essential for establishing prevention schemes [ 6 ].…”

mentioning

confidence: 99%

“…Interestingly, the mutant allele frequencies are higher in PWCs (0.792) and Border Collies (0.169) in the U.S.A. than in randomly collected samples from PWCs (0.697) and Border Collies (0.008) in Japan [ 3 , 6 ]. Epidemiological information on the genetic disorders in each breed is essential for establishing prevention schemes [ 6 ]. Therefore, epidemiological surveys should be performed in each country and region.…”

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confidence: 99%

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Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the <i>SOD1</i>: c.118G>A mutation in Japan

Kohyama

Kitagawa

Kamishina

et al. 2017

The Journal of Veterinary Medical Science

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Canine degenerative myelopathy (DM) is an adult-onset, progressive neurodegenerative disease that occurs in multiple dog breeds. A DM-associated mutation of the canine superoxide dismutase 1 (SOD1) gene, designated as c.118G>A (p.E40K), has been implicated as one of pathogenetic determinants of the disease in many breeds, but it remains to be determined whether the c.118G>A mutation is responsible for development or progression of DM in Collies. Previously, a Rough Collie was diagnosed clinically and histopathologically as having DM in Japan, suggesting the possibility that the Collie breed may be predisposed to DM due to the high frequency of c.118G>A in Japan. In this study, accumulation and aggregate formation of SOD1 protein were retrospectively demonstrated in the spinal cord of the DM-affected dog by immunohistochemical analysis. Furthermore, a molecular epidemiological survey revealed a high carrier rate (27.6%) and mutant allele frequency (0.138) of c.118G>A in a population of Collies in Japan, suggesting that the Collie breed may be predisposed to DM associated with c.118G>A, and the prevention of DM in Collies in Japan should be addressed through epidemiological and genetic testing strategies.

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supporting

confidence: 38%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the <i>SOD1</i>: c.118G>A mutation in Japan

Kohyama

Kitagawa

Kamishina

et al. 2017

The Journal of Veterinary Medical Science

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“…In AuS, the MDR1 mutated allele frequency in Italy was calculated to be 35 per cent, a mean value considering it ranged from 15.7 per cent in Brazil2 to 46 per cent in UK 4. In the USA, the country of origin of AuS breed, Neff et al 1 and Mealey and Meurs10 reported a mutant allele frequency of 17 per cent and 29 per cent, respectively.…”

Section: Discussionmentioning

confidence: 99%

Genotypic and allelic frequencies of MDR1 gene in dogs in Italy

Marelli¹,

Polli²,

Frattini

et al. 2020

Veterinary Record Open

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BackgroundA mutation in the canine multidrug resistance MDR1 gene (also referred as ABCB1), encoding for the multidrug resistance (MDR) P-glycoprotein (P-gp) transponder, causes a pathological condition known as ‘ivermectin toxicosis’. The causative mutation, known since 2001, has been described to affects sheep herding breeds related to collie lineage. The present study is a retrospective investigation of the presence of MDR1 mutated allele in Italian dog populations in a 5 years’ time lapse. The aim of the research is to offer a deep knowledge in MDR1 allelic and genotypic frequencies in canine breeds and populations raised in Italy.MethodsGenotype data for the 4-bp deletion (c296_299del4) in MDR1 gene from 811 dogs belonging to 32 breeds/populations were collected.ResultsThe mutated allele has been found in 9 out of 31 breeds: Rough Collie, Smooth Collie, Border Collie, Bearded Collie, Shetland Sheepdog, Australian Shepherd, White Swiss Shepherd, Old English Sheepdog, Whippet and also in crossbreed. The breeds with the highest allelic mutation frequency are Smooth and Rough Collies with 75 per cent and 66 per cent of mutant MDR1 allele, respectively.ConclusionsThe results support the usefulness of this genetic analysis to optimise medical care in dogs at risk of multidrug resistance and to create an objective basis in breeding programme definition and in the risk evaluation in different breeds.

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“…Epidemiological information on genetic diseases in each breed are essential for establishing prevention plans [10]. Thus, epidemiological surveys must be performed in each country and region, and these results published at a global level, so that the allele distribution for a certain disease can be known [11].…”

Section: Introductionmentioning

confidence: 99%

Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil

Santos

Gouveia

et al. 2020

PLoS ONE

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Canine Degenerative Myelopathy is a late onset recessive autosomal disease characterized by a progressive ascending degeneration of the spinal cord. Two causal mutations are associated with this disease: a transition (c.118G>A) in exon 2 of the SOD1 that was described in several breeds and a transversion (c.52A>T) in exon 1 of the same gene described in Bernese Mountain dogs. The aim of this study was to understand the impact of the SOD1:c.118G > A mutation by genotyping a population of German Shepherd dogs in Brazil. A PCR-RFLP approach was used to genotype 97 healthy individuals belonging from the Northeast (Bahia and Pernambuco states) and South (Santa Catarina state) regions of Brazil. A total of 95 individuals were successfully genotyped resulting in an observed genotype frequency (with 95% confidence interval) of: 0.758 (0.672–0.844), 0.242 (0.156–0.328) and 0.000 (0.000–0.000) for “GG”, “AG” and “AA” genotypes, respectively. To our knowledge, this is the first attempt to describe the presence of the “A” allele associated with CDM (SOD1:c.118G > A) in German Shepherd dogs in Brazil and, as such, these results contribute toward important epidemiological data in this country and to the knowledge of the distribution of the aforementioned mutation worldwide.

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Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling

Cited by 14 publications

References 10 publications

Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the <i>SOD1</i>: c.118G>A mutation in Japan

Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the <i>SOD1</i>: c.118G>A mutation in Japan

Genotypic and allelic frequencies of MDR1 gene in dogs in Italy

Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil

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