Merle allele variations in the Mudi dog breed and their effects on phenotypes.

A retrotransposon insertion in the SILV gene is associated with a peculiar phenotype of dog, known as a merle. It is characterised by various areas of their coat colour becoming diluted due to a malfunction in the eumelanin-producing pigment cells. Recent studies have shown that the exact size of the short interspersed element (SINE) insertion is in correlation with specific phenotypic attributes, but was not able to absolutely confine dogs to a certain colour pattern. Our study focused on the merle variations occurring in the Mudi breed. Altogether, 123 dog samples from 11 countries were tested and genotyped. The exact length of the merle alleles were determined by automated fluorescent capillary fragment analysis. The most frequent merle genotype in this Mudi sample collection was the 'classic' merle (m/M: 61.8%), whereas other variants, such as atypical (m/Ma and m/Ma+: 5.7%), harlequin (m/Mh: 13.8%), double merle (M/M: 0.8%) and mosaic profiles (17.9%) were also observed. The practical significance of testing this mutation is that, phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous 'double merle' progeny with ophthalmologic, viability and auditory impairments.

Comparison of microsatellite and blood group diversity among different genotypes of cattle.

Genetic variability and relationships among five cattle breeds (Holstein, Pinzgau, Limousin, Slovak Spotted and Charolais) bred in the Slovak Republic were investigated separately using 11 microsatellite markers and 61 blood group systems. Allele frequency, heterozygosity (Ho, HE) and PIC values were investigated. F-statistics were computed separately. For microsatellite markers FIS, FIT, FST and for blood groups HS, HT, GST parameters were calculated. Microsatellite and blood group comparison showed similar results by F-statistics but some differences were marked using the other methods. Both methods were able to detect close relation between Slovak Pinzgau and Slovak Spotted cattle breeds. Their relation was confirmed by genetic distance, principal component analysis (PCA) and coefficient of admixture (mY). Important divergences between different markers used in the study were observed by the characterisation of Limousin and Charolais breeds.