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

Shaffer, Lisa G.; Ramirez, Christina J; Sundin, Kyle; Connell, Laurie B.; Ballif, Blake C.

doi:10.1136/vetreccr-2016-000346

Cited by 5 publications

(4 citation statements)

References 7 publications

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“…Other factors, such as the occurrence of important traits (including hereditary diseases), play a role in the management decisions. Cesky Fousek now has low prevalence of hereditary diseases in contrast to the situation found in many other breeds with a small population size [34].…”

Section: Discussionmentioning

confidence: 99%

Tracing genetic resurrection of pointing dog breeds: Cesky Fousek as both survivor and rescuer

et al. 2019

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Cesky Fousek is considered to be one of the oldest pointing dog breeds in Europe and has been appreciated for its versatile working skills. Because it faced extinction in the past, the Cesky Fousek was restored from German Wirehaired and Shorthaired Pointers. Additionally, the breed was recently used in the USA with the initial intent of improvement of the Wirehaired Pointing Griffon (synonymous with Korthals Griffon) by the Bohemian Wirehaired Pointing Griffon Club of America. This study evaluates genetic diversity parameters of Cesky Fousek and compares them to the other continental pointing dogs that played a role in the formation of its gene pool. DNA from buccal swab and blood samples ( n = 405) were analyzed using 18 microsatellite markers. Parameters of genetic polymorphism show that the Cesky Fousek breed has a comparable rate of variation as other hunting breeds despite the low population size and severe historical bottlenecks. Clustering analyses reveal a unique genetic status as a distinct pointing dog breed and the relatedness of the breeds is in good concordance with historical data. The present study demonstrates that despite historical admixture among lineages, separate pointing breeds constitute genetically differentiated units, mirroring unique breeding stocks and pedigree isolation among specific breed clubs, reflecting differences in breeding programs under each association.

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Section: Discussionmentioning

confidence: 99%

Tracing genetic resurrection of pointing dog breeds: Cesky Fousek as both survivor and rescuer

et al. 2019

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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 <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

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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“…Samples were obtained primarily from buccal swabs and whole blood. DNA was extracted using routine, standard methods as previously described (Shaffer et al 2015(Shaffer et al , 2016(Shaffer et al , 2017.…”

Section: Sample Acquisition and Dna Extractionmentioning

confidence: 99%

The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding

Ballif¹,

Emerson²,

Ramirez³

et al. 2021

Hum Genet

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One of the most unique coat color patterns in the domestic dog is merle (also known as dapple in the dachshund breed), characterized by patches of normal pigmentation surrounded by diluted eumelanin pigment. In dogs, this striking variegated pattern is caused by an insertion of a SINE element into the PMEL gene. Differences in the length of the SINE insertion [due to a variable-length poly(A)-tail] has been associated with variation in the merle coat color and patterning. We previously performed a systematic evaluation of merle in 175 Australian shepherds and related breeds and correlated the length of the merle insertion variants with four broad phenotypic clusters designated as "cryptic", "atypical", "classic", and "harlequin" merle. In this study, we evaluated the SINE insertions in 140 dachshunds and identified the same major merle phenotypic clusters with only slight variation between breeds. Specifically, we identified numerous cases of true "hidden" merle in dachshunds with light/red (pheomelanin) coats with little to no black/brown pigment (eumelanin) and thus minimal or no observable merle phenotype. In addition, we identified somatic and gonadal mosaicism, with one dog having a large insertion in the harlequin size range of M281 that had no merle phenotype and unintentionally produced a double merle puppy with anophthalmia. The frequent identification of cryptic, hidden, and mosaic merle variants, which can be undetectable by phenotypic inspection, should be of particular concern to breeders and illustrates the critical need for genetic testing for merle prior to breeding to avoid producing dogs with serious health problems.

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

Cited by 5 publications

References 7 publications

Tracing genetic resurrection of pointing dog breeds: Cesky Fousek as both survivor and rescuer

Tracing genetic resurrection of pointing dog breeds: Cesky Fousek as both survivor and rescuer

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 PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding

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