Studies of mitochondrial DNA D-loop sequence variation may support the Polish Primitive Horse (Konik) conservation programme

The protection and balanced development of all existing maternal lines is one of the primary goals of the Polish Primitive Horse (PPH or Konik) conservation programme. However, previous studies have indica- ted that managing PPH conservative breeding may encounter challenges because of the numerous existing pedigree errors. We therefore attempted to check whether mtDNA markers may prove useful in correcting PPH pedigrees and improving the breed conservation programme. A 510 bp mtDNA D-loop fragment was sequenced for 396 samples representing all sixteen officially recognised maternal lines. These samples were derived from different time points in the PPH breeding history. Our analysis confirmed the presence of nineteen mtDNA haplotypes. A comparison of the molecular and pedigree data showed that the frequency of particular haplotypes was highly uneven. Although for the majority of the maternal lines we were able to identify a potential 'founder haplotype', only four of them (Dzina I, Popielica, Geneza and Bona) turned out to be 'genetically pure'. Our study confirmed that an mtDNA analysis is a useful method for assessing PPH maternal genetic diversity and illustrating the breed's history. Our findings suggest that PPH conservation programmes would benefit from revising the official pedigrees using molecular data alongside breeding records.