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

Area of Science:

• Paleogenetics
• Molecular Anthropology
• Genomics

Background:

• Mitochondrial DNA (mtDNA) analysis is vital for human population studies but challenged by post-mortem DNA damage.
• Environmental factors complicate distinguishing true genetic variants from artifacts in ancient mtDNA.

Purpose of the Study:

• To develop a molecular damage profile for ancient mtDNA.
• To create a tool for analyzing mtDNA from ancient remains.

Main Methods:

• Compiled a dataset of 427 ancient mtDNA sequences from the ENA database.
• Included present-day and UDG-treated ancient samples to establish damage levels.
• Generated a global damage profile by analyzing 2933 damage hotspots.

Main Results:

• Cold regions showed the lowest percentage of damaged reads in ancient mtDNA.
• Identified 2933 damage hotspots across 25% of analyzed positions.
• Discovered 2856 novel damage or mutational hotspots.

Conclusions:

• The study provides a valuable molecular damage profile for ancient mtDNA analysis.
• This profile will aid in interpreting mtDNA variation in ancient samples.
• Damage hotspot frequency was higher in non-coding mtDNA regions.