Characterization of the Polish Primitive Horse (Konik) maternal lines using mitochondrial D-loop sequence variation

Area of Science:

• Animal Genetics
• Conservation Biology
• Molecular Phylogenetics

Background:

• The Polish Primitive Horse (PPH, Konik) is a native breed conserved for its primitive phenotype.
• Preserving and developing all maternal lines is a key breeding strategy goal.
• Previous research lacked genetic diversity analysis of PPH dam lines using mtDNA.

Purpose of the Study:

• To investigate the genetic diversity of 16 recognized PPH maternal lines.
• To analyze phylogenetic relationships using partial mtDNA D-loop sequencing.
• To assess the accuracy of PPH pedigree records through genetic markers.

Main Methods:

• Sequencing of the mtDNA D-loop region from 173 PPH individuals.
• Phylogenetic analysis of detected mtDNA haplotypes.
• Comparison with existing horse breed mtDNA sequences in GenBank.

Main Results:

• 19 mtDNA haplotypes were identified in the PPH population, with 5 potentially novel.
• Haplotypes aligned with 10 recognized mtDNA haplogroups, showing similarity to other indigenous breeds.
• Maternal genetic diversity is relatively high (overall HapD = 0.92), but pedigree errors were found in several lines.

Conclusions:

• The PPH breed retains numerous ancestral haplotypes, indicating phylogenetic links to global indigenous horses.
• Pedigree inaccuracies necessitate molecular monitoring for effective conservation of maternal lines.
• Mitochondrial DNA markers are crucial for managing the PPH conservation program and ensuring genetic integrity.