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Updated: Feb 19, 2026
07:24
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
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Climate-associated natural selection in the human mitochondrial genome
Finley Grover-Thomas1,2, Lucy van Dorp1,2, Francois Balloux1,2
1Department of Genetics, Evolution and Environment, University College London, London, UK.
Molecular Biology and Evolution
|February 17, 2026
Summary
Human mitochondrial genomes (mtDNA) show local adaptation to climate. Specific variants in mtDNA are linked to environmental conditions, influencing human evolution and disease risk.
Area of Science:
- Evolutionary biology
- Human genetics
- Mitochondrial genomics
Background:
- Mitochondria are vital for cellular functions, including energy production and response to environmental changes.
- Human adaptation to diverse climates is well-documented, but the role of mitochondrial DNA (mtDNA) is unclear.
Purpose of the Study:
- To investigate the role of human mitochondrial genomes in adaptation to climatic conditions.
- To identify specific mtDNA variants associated with local environmental adaptation.
Main Methods:
- Curated a large dataset of 19,570 human mitochondrial genomes.
- Paired genomic data with modern and paleoclimate variables.
- Employed a Generalised Linear Model to identify significant variant-environment associations.
Main Results:
- Identified independent candidate mtDNA variants significantly associated with climatic conditions, indicating local adaptation.
- Candidate variants are located in regulatory, tRNA, rRNA, and protein-coding regions, notably in Complex I subunits (ND2, ND4).
- Variant genotype distributions correlate with different paleoclimatic variables, suggesting distinct selective pressures.
Conclusions:
- Provides genetic evidence for mitochondria's role in human adaptation to diverse environments.
- Highlights the importance of mtDNA in evolutionary biology, disease variation, and physiological differences across global populations.
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