Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond

Shaffer, Lisa G.; Ramirez, Christina J; Sundin, Kyle; Carl, Casey; Ballif, Blake C.

doi:10.1136/vetreccr-2015-000185

Cited by 8 publications

(12 citation statements)

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“…Samples were obtained primarily from buccal swabs, whole blood, and docked tail tissue. DNA was extracted using routine, standard methods as previously described [Shaffer et al, 2015[Shaffer et al, , 2016[Shaffer et al, , 2017 24 PMEL SINE Insertion Size Analysis PCR amplification of the region flanking the SINE insertion site in PMEL was performed using 2 different primer sets to verify and confirm the results. The primer sequences for the 2 assays are: * VIC * F-5 ′ -CCATAGATAGGCTTTCCTTGTCC, R-5 ′ -GGGCA-AGAGCGGAAGACC and * FAM * F-5 ′ -CAGTTTCTCCTTTA-TTCTCCCAATG and R-5 ′ -GAGAGCTGAGCCCTGCTTC.…”

Section: Sample Acquisition and Dna Extractionmentioning

confidence: 99%

The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

Ballif¹,

Ramirez²,

Carl³

et al. 2018

Cytogenet Genome Res

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Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is caused by an insertion of a SINE element into the canine PMEL gene. Although variation in the length of the SINE insertion - due to a variable-length poly(A) tail - has been observed to be associated with variation in merle coat color and patterning, no systematic evaluation of this correlation has been conducted and published in the scientific literature. We performed high-resolution analysis of the SINE insertion lengths in 175 dogs (99 Australian shepherds, 45 miniature Australian shepherds, and 31 miniature American shepherds) and compared the genotypes with the coat phenotypes (when available). SINE insertion lengths varied from 201 to 277 bp, indicating that merle insertion variants can occur in virtually any size along the entire continuum. Genotype-phenotype correlation of 126 dogs with only a single SINE insertion (m/M) identified at least 4 major phenotypic clusters designated as “cryptic,” “atypical,” “classic,” and “harlequin” merle. However, we found several phenotypic outliers that did not cluster within these major groupings, suggesting that insertion size is not the only factor responsible for merle phenotypic variability. In addition, we detected 25 dogs with 2 SINE insertions (M/M) and 24 dogs with more than 2 PMEL (merle) alleles, indicating mosaicism. Genotype-phenotype correlation of M/M dogs suggests that cryptic merle alleles often act like non-merle (m) alleles when combined with atypical, classic, and harlequin-sized alleles. The finding of mosaicism has important implications for the dog's phenotype and the ability to potentially transmit various alleles to its offspring. Furthermore, we identified examples of the SINE insertion poly(A)-tail expansion and contraction between generations, which also has important implications for breeding practices and determining mating pairs to avoid producing double merle dogs. These data demonstrate that there is a continuum of merle insertion lengths associated with a spectrum of coat color and patterns and that genotype-phenotype exceptions and overlap make it difficult to strictly assign certain insertion sizes with an expected coat color, although some generalizations are possible.

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Section: Sample Acquisition and Dna Extractionmentioning

confidence: 99%

The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

Ballif¹,

Ramirez²,

Carl³

et al. 2018

Cytogenet Genome Res

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“…Samples were then collected on 13 additional CF dogs specifically to identify carriers or at-risk dogs at the superoxide dismutase 1 gene ( SOD1) locus. For 22 dogs, three buccal swabs per dog were used for sample collection and DNA was extracted using the 5Prime buccal brush protocol as previously described (Shaffer and others 2015). Frozen semen samples were used for DNA extraction for six dogs; whole peripheral blood was used for two dogs.…”

Section: Case Presentationmentioning

confidence: 99%

“…The mutations analysed have been reported previously (Shaffer and others 2015), with the following exceptions: Table 1 shows the disease tests performed on the drents (Shaffer and others 2015) but not used in the current study and Table 2 shows 14 additional mutations studied in the CF dogs but not in the drents.…”

Section: Investigationsmentioning

confidence: 99%

“…With this approach, additional breeds in which the mutation might occur will not be discovered. The authors recently published a genetic screen of the rare canine breed, drentsche patrijshond (drents) (Shaffer and others 2015). Through the examination of 142 disease-associated mutations in the 13 subjects examined, the authors identified mutations in two genes that occur within the drent population.…”

Section: Introductionmentioning

confidence: 99%

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Genetic screening and mutation identification in a rare canine breed, the ceský fousek

Shaffer

Ramirez²,

Sundin³

et al. 2016

Vet Record Case Reports

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Identification of genetic mutations causing disease is helpful in breeding programmes aimed at enhancing the qualities of a breed. The ceský fousek (CF), also known as the Bohemian wirehaired pointing griffon, is a versatile hunting dog that dates back to the 14th century. Because no genetic mutations are known in this breed, the authors screened 17 CFs for 148 disease-associated mutations known to occur in domestic dogs. The authors identified three carriers of the common mutation in SOD1, associated with degenerative myelopathy (DM) and one carrier with a mutation in MLPH, associated with colour dilution alopecia and black hair follicular dysplasia. An additional 13 CF dogs were screened to identify additional carriers of DM. This information can be used to test CF before breeding to improve the health of the breed and to avoid producing affected dogs. This study demonstrates the usefulness of genetic screening in dogs, particularly those of rare breeds.

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“…Other breeds included Bloodhound (6), English Springer Spaniel (1), Australian Shepherd (1), Belgian Sheepdog (2), Border Collie (3), Catahoula Leopard Dog (2), Czechoslovakian Vlcak (1), Golden Retriever (4), Standard Poodle (1), and mixed-breed (14) 200 DNA was extracted using routine standard methods. Mutation regions were investigated using a variety of methods depending on the specific mutation, as previously described [Shaffer et al, 2015[Shaffer et al, , 2016. Results of testing were provided to handlers or superior officers upon request.…”

Section: Genetic Testingmentioning

confidence: 99%

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland

Shaffer¹,

Ramirez²,

Phelps

et al. 2017

Cytogenet Genome Res

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Genetic diseases occur in breeds used for law enforcement. As important team members, dogs are expected to operate at peak performance for several years and are significant investments for both the initial purchase and extensive, specialized training. Previous studies have not focused on causes for retirement or euthanasia as genetic (inherited) versus acquired (environmental). We performed direct mutational analysis for breed-specific conditions on samples from 304 dogs including 267 law enforcement (122 US, 87 Israeli, and 58 Polish) and 37 search and rescue dogs. Genetic testing identified 29% (n = 89) of the dogs tested to be carriers of a genetic mutation and 6% (n = 19) to be at risk for a debilitating inherited condition that may eventually impair the dog's ability to work. At-risk dogs included Labrador Retrievers (n = 4) with exercise-induced collapse, Bloodhounds (n = 2) with degenerative myelopathy (DM), and German Shepherd dogs with DM (n = 12) or leukocyte adhesion deficiency, type III (n = 1). A substantial number of working dogs were shown to be at risk for genetic conditions that may shorten the dog's career. The loss of dogs, due to early retirement or euthanasia, as a result of preventable genetic conditions has an emotional cost to handlers and financial cost to service organizations that can be avoided with genetic screening prior to breeding, buying, or training.

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Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond

Cited by 8 publications

References 11 publications

The <b><i>PMEL</i></b> Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

The <b><i>PMEL</i></b> Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

Genetic screening and mutation identification in a rare canine breed, the ceský fousek

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland

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