A Post-Mortem Molecular Damage Profile in the Ancient Human Mitochondrial DNA.

ABSTRACT: Mitochondrial DNA (mtDNA) analysis is crucial for understanding human population structure and genetic diversity. However, post-mortem DNA damage poses challenges, that make analysis difficult. DNA preservation is affected by environmental conditions which, among other factors, complicates the differentiation of endogenous variants from artefacts in ancient mtDNA mix profiles. This study aims to develop a molecular damage profile for ancient mtDNA that can become a useful tool in analysing mtDNA from ancient remains. A dataset of 427 whole genomes or capture of mtDNA sequences from individuals representing different historical periods and climatic regions was compiled from the ENA database. Present-day and UDG-treated ancient samples were also included and used to establish levels of damag

SUBMITTER: Cuesta-Aguirre DR 

PROVIDER: S-EPMC11969630 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature