Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update

Rokhsar, Jennifer L.; Canino, Julia; Raj, Karthik; Yuhnke, Scott; Slutsky, Jeffrey; Giger, Urs

doi:10.1007/s00439-021-02256-5

Cited by 12 publications

(16 citation statements)

References 46 publications

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“…Today, the problem of selecting pairs of animals for breeding rests mainly on the responsible approach of the owner, and any poorly considered actions can lead to the perpetuation of traits detrimental to the health of dogs and the narrowing of their genetic pool [ 22 ]. The number of breed-specific conditions increased at more than 100% between year 2013 and 2020 [ 23 ]. The range of dedicated tests for their identification is also growing steadily [ 23 ].…”

Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

“…The number of breed-specific conditions increased at more than 100% between year 2013 and 2020 [ 23 ]. The range of dedicated tests for their identification is also growing steadily [ 23 ]. Among the 10 breeds for which test availability is the greatest, are Labrador Retriever, Beagle, Australian Shepherd, German Shepherd, Standard and Miniature Poodle, Golden Retriever, Collie, Pembroke Welsh Corgi, and Dachshund [ 23 ].…”

Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

“…The range of dedicated tests for their identification is also growing steadily [ 23 ]. Among the 10 breeds for which test availability is the greatest, are Labrador Retriever, Beagle, Australian Shepherd, German Shepherd, Standard and Miniature Poodle, Golden Retriever, Collie, Pembroke Welsh Corgi, and Dachshund [ 23 ]. Detailed information on the range of genetic tests for detecting inherited diseases can be accessed online at: The WSAVA-PennGen DNA Testing Database, which is part of “A project of the WSAVA Hereditary Disease Committee” [ 24 ].…”

Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

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Dead or Alive? A Review of Perinatal Factors That Determine Canine Neonatal Viability

Uchańska¹,

Ochota²,

Eberhardt³

et al. 2022

Animals

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The perinatal period has a critical impact on viability of the newborns. The variety of factors that can potentially affect the health of a litter during pregnancy, birth, and the first weeks of life requires proper attention from both the breeder and the veterinarian. The health status of puppies can be influenced by various maternal factors, including breed characteristics, anatomy, quality of nutrition, delivery assistance, neonatal care, and environmental or infectious agents encountered during pregnancy. Regular examinations and pregnancy monitoring are key tools for early detection of signals that can indicate disorders even before clinical signs occur. Early detection significantly increases the chances of puppies’ survival and proper development. The purpose of the review was to summarize and discuss the complex interactions between all elements that, throughout pregnancy and the first days of life, have a tangible impact on the subsequent fate of the offspring. Many of these components continue to pose challenges in veterinary neonatology; thus, publications presenting the current state of knowledge in this field are in demand.

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Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

Section: Maternal and Pregnancy-related Factorsmentioning

confidence: 99%

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Dead or Alive? A Review of Perinatal Factors That Determine Canine Neonatal Viability

Uchańska¹,

Ochota²,

Eberhardt³

et al. 2022

Animals

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“…In addition to the OMIA database and the Orthopedic Foundation for Animals (OFA: Orthopedic Foundation for Animals 2021), the World Small Animal Veterinary Association and the University of Pennsylvania School of Veterinary Medicine clinical testing laboratory known as PennGen provide a database of available feline and canine tests and the laboratories that perform them. Rokhsar et al (2021) provide an update on this DNA testing resource and compare the current compilation to their previous data review from 2012. This opening article to this special issue sets the stage for the novel discoveries that follow on this topic.…”

Section: Databases Provide Helpful Resources To Pet Owners Breeders and Veterinariansmentioning

confidence: 99%

Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs

Shaffer

2021

Hum Genet

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“…According to well-established online databases [ 10 – 13 ], there are currently hundreds of hereditary diseases with known causative gene variants in dogs. While many of these diseases occur at a greater frequency in a single breed or several related breeds, some disorders are common to multiple breeds [ 1 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution

et al. 2022

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Background Cases of gastrointestinal (GI) neoplastic polyps in Jack Russell Terriers (JRTs) have increased in Japan since the late 2000s. We recently demonstrated that JRTs with GI polyps heterozygously harbor an identical germline variant in the adenomatous polyposis coli (APC) gene, c.[462_463delinsTT]; therefore, this is an autosomal dominant hereditary disease. We conducted a molecular epidemiological study to explore the current frequency of the APC variant in JRTs in Japan and the breed distribution of this disease. Results Peripheral blood samples from 792 JRTs were collected at 93 veterinary hospitals in Japan in 2020. Using an established polymerase chain reaction-restriction fragment length polymorphism assay, the germline APC variant was detected in 15 JRTs, with an overall frequency of 1.89%. The frequency was not significantly different for sex, age, and coat type criteria. Notably, the variant carriers had a current or previous history of GI neoplastic polyps, providing further evidence of the association of the germline APC variant with GI polyposis. Pedigree analysis of carrier dogs revealed that the germline APC variant was no longer confined to a few specific families but was widely spread among JRTs in Japan. Furthermore, some ancestors of the carriers were from Australia or New Zealand, suggesting the possible presence of carriers in countries other than Japan. Next, we retrospectively investigated the germline APC variant status of dogs with GI epithelial tumors using genomic DNA samples extracted from archived pathological specimens (28 purebred dogs of 14 breeds and four mixed-breed dog), as well as those stored in a canine genome bank (38 dogs of 18 breeds and a mixed-breed dogs). In total, 66 purebred dogs of 25 breeds, including another four JRTs, and five mixed-breed dogs were examined. While three variant carriers were found in JRTs, the germline APC variant was not detected in any of the other breeds. Conclusion The current frequency of the germline APC variant was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15 years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs.

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Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update

Cited by 12 publications

References 46 publications

Dead or Alive? A Review of Perinatal Factors That Determine Canine Neonatal Viability

Dead or Alive? A Review of Perinatal Factors That Determine Canine Neonatal Viability

Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs

Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution

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