Frequency of canine degenerative myelopathy SOD1:c.118G&gt;A mutation in 22 dog breeds in Guadalajara, Mexico

Ayala–Valdovinos, Miguel Angel; Gomez-Fernandez, Ana A; Duifhuis-Rivera, Theodor; Aparicio-Cid, Eva A; Sánchez-Chiprés, David; Galindo-García, Jorge

doi:10.17533/udea.rccp.v31n2a08

Cited by 5 publications

(5 citation statements)

References 7 publications

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“…The heterozygosity and homozygosity rates observed were similar to those previously recorded in the same breed (0.25 vs. 0–0.17 and 0.04 vs. 0–0.06 for heterozygosity and homozygosity, respectively) [ 9 , 18 - 20 ] and other breeds (Airedale Terrier, American Hairless Terrier, Beagle, Belgian Sheepdog, Borzoi, Boxer, Boykin, Chow Chow, Spaniel, and Kuvasz) ( Table-2 ) [ 6 - 9 , 18 - 24 ].…”

Section: Discussionsupporting

confidence: 88%

“…In the studied group of animals, the frequency of the mutant allele (A) was 0.17, which is slightly higher than that previously reported for Belgian Malinois (0-0.14) [ 9 , 18 - 20 ] but similar to the frequency reported in other breeds such as the Airedale Terrier, Australian Terrier, Chinese Crested, Chow Chow, French Bulldog, Irish Setter, and Puli [ 9 , 18 ] ( Table-2 ).…”

Section: Discussionsupporting

confidence: 62%

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Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

et al. 2021

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Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece. Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements. Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed. Conclusion: The SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 62%

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

et al. 2021

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“…In the USA, the mutant allele frequency was 0.36 [ 22 ] and 0.33 [ 28 ] in the German Shepherd population, while in Poland it was 0.18 and in Israel it was 0.17 [ 28 ]. In Mexico, the mutant allele frequency in the tested German Shepherd population was 0.13 [ 29 ]. One additional study, which included German Shepherd samples from Germany, Belgium, and the Netherlands, identified an allele frequency of 0.15 [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

“…For the same breed, the frequency of the mutant allele was 0.06 in the study conducted by Zeng et al [ 22 ], while a study conducted in Greece determined it to be 0.17 [ 31 ]. In Mexico, the mutant allele frequency in the tested Belgian Shepherd population was 0.14 [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania

Cocostîrc

Paştiu

Doboși

et al. 2023

Animals

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Canine degenerative myelopathy (CDM) is a spontaneous neurodegenerative disease. Genetically, CDM is an autosomal recessive disease with incomplete penetrance, most commonly caused by a genetic mutation in exon 2 of gene SOD1 (c.118G > A). This study aimed to determine the mutant allele frequency associated with CDM in various dog breeds from Romania. Dogs (n = 230) from 26 breeds were included in the study. Genotyping using the PCR-RFLP technique was performed on DNA extracted from oral swabs. The results revealed that 204 dogs were homozygous for the wild-type allele (G/G), 16 were heterozygous (A/G), and 10 were homozygous for the mutant allele (A/A). The mutant allele was identified in Wire Fox Terrier, Romanian Mioritic Shepherd, German Shepherd, Rottweiler, Belgian Shepherd, and Czechoslovakian Wolfdog breeds. The mutant allele frequency (A) within the tested population was 0.0783. The results for Belgian Shepherd, German Shepherd, and Romanian Mioritic Shepherd were in Hardy–Weinberg equilibrium, but a departure was observed for Rottweiler. The current study included a first screening of the Romanian Bucovina Shepherd, Romanian Mioritic Shepherd, and Caucasian Shepherd breeds. Genetic testing for the mutation associated with CDM is important in order to avoid the risk of the emergence of dogs homozygous for the SOD1:c118G > A allele.

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“…The homozygous A allele mutation is strongly associated with DM onset (Awano et al 2009; Chang et al 2013; Zeng et al 2014), indicating that it is an autosomal recessive variant. The mutant homozygous A allele is fairly common in PWCs and is not geographically restricted (e.g., 48.4% or 59/122 in Japan (Chang et al 2013) and 83% or 14/21 in Mexico (Ayala-Valdovinos and Gomez-Fernandez 2018)).…”

Section: Introductionmentioning

confidence: 99%

Negative selection on aSOD1mutation limits canine degenerative myelopathy while avoiding inbreeding

Ukawa¹,

Akiyama²,

Yamamoto³

et al. 2023

Preprint

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Several hundred mutations are known to cause disease in domestic dogs. Breeding management is therefore required to minimize their spread. Recently, genetic methods such as direct-to-consumer testing have gained popularity, but their effects on dog populations are unclear. Here, we aimed to evaluate the influence of genetic testing on the frequency of mutations causing canine degenerative myelopathy and changes to the genetic structure in the Pembroke Welsh corgi population from Japan. Genetic testing of 5,512 dogs for the causative mutation in SOD1 (c.118G>A (p.E40K)) uncovered a recent decrease in frequency from 14.5% (95/657) in 2019 to 2.9% in 2022 (24/820). Genome-wide single nucleotide polymorphism (SNP) analyses of 117 selected dogs revealed no obvious changes in genetic diversity and inbreeding levels between the 2019 and 2022 populations. Further Fst-based analysis to detect selective pressure identified the signature of 143 SNPs, including an SNP located in the intron of SOD1 adjacent to the c.118G>A mutation. Our study highlights that genetic testing can be supported with improved mating choices in breeding programs to avoid inbreeding. This combined strategy could decrease the genetic risk of canine degenerative myelopathy, a fatal dog disease, and its results would be evident within a few years.

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Frequency of canine degenerative myelopathy SOD1:c.118G>A mutation in 22 dog breeds in Guadalajara, Mexico

Cited by 5 publications

References 7 publications

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania

Negative selection on aSOD1mutation limits canine degenerative myelopathy while avoiding inbreeding

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