Where do we place Mitochondrial Eve on the human family tree? How many mutations have occurred within the human mtDNA sequence? How much of that sequence is evolutionarily constrained? Are mtDNA mutations predictable? All this and more in this installment of Biblical Genetics. Dr Rob is going to discuss some fascinating new details and bring up some old stuff that needs explaining.

Links and notes:

• Carter. 2007. Mitochondrial diversity within modern human populations pmc.ncbi.nlm.nih.gov/articles/PMC1888801/
• Carter, Criswell, and Sanford. 2008. The “Eve” Mitochondrial Consensus Sequence digitalcommons.cedarville.edu/icc_proceedings/vol6/iss1/12/
• Anderson et al. 1981, Sequence and organization of the human mitochondrial genome pubmed.ncbi.nlm.nih.gov/7219534/
• Andrews et al. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA pubmed.ncbi.nlm.nih.gov/10508508/
• Behar et al. 2012. A ‘‘Copernican’’ Reassessment of the human mitochondrial DNA tree from its root pubmed.ncbi.nlm.nih.gov/22482806/
• Bandelt et al. 2014. The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies pubmed.ncbi.nlm.nih.gov/24304692/
• Laricchia et al. 2022. Mitochondrial DNA variation across 56,434 individuals in gnomAD pubmed.ncbi.nlm.nih.gov/35074858/
• Lake et al. 2024. Quantifying constraint in the human mitochondrial genome pubmed.ncbi.nlm.nih.gov/39415008/