Mitochondrial genetic variation across tissues of the human body - PubMed
3 hours ago
- #heteroplasmy
- #mitochondrial DNA
- #tissue variation
- 39% of mitochondrial DNA variants were tissue-specific, found in only one tissue per donor.
- Tissue-specific variants are more likely to be transversions, nonsynonymous, deleterious, and have lower allele fractions.
- Proliferative tissues had the most tissue-specific variants; energetic tissues had the fewest.
- Tissue-specific variants increased with donor age in tissues most prone to them.
- Most heteroplasmic variants arise de novo after tissue differentiation.