A Systematic Literature Review of Mitochondrial DNA Analysis for Horse Genetic Diversity

Abstract

For effective conservation and breeding programs, investigating horse genetic diversity is essential. This study reviews 76 studies published since 2012 on mitochondrial DNA (mtDNA) analysis, with a focus on maternal lineages and haplogroups. The findings highlight persistent challenges, particularly the need to update the 2012 haplogroup classification system and mitigate data loss caused by sequence trimming. A more comprehensive understanding of equine genetic diversity requires addressing underrepresented breeds and regions, which remain overlooked in existing studies. Additionally, integrating mtDNA findings with performance traits and whole-genome sequencing would enhance genetic evaluation, providing valuable insights for conservation and management. Ultimately, these advancements are crucial for ensuring the sustainable preservation of horse populations worldwide. Keywords: mitochondrial DNA, equine maternal lineages, horse genetic diversity, mtDNA haplogroups, phylogeny, population genetics, conservation genetics