mtDNApopulaatioon

mtDNA population genetics studies the variation of mitochondrial DNA across individuals and populations. Mitochondrial DNA (mtDNA) is a small, circular genome inherited almost exclusively from the mother and does not recombine. Because it tracks a single maternal lineage, mtDNA provides information about population structure, migration, and demographic history.

In humans, the mtDNA genome is about 16,569 base pairs and encodes 13 proteins, 22 tRNAs, and 2 rRNAs. Variation is organized into haplogroups, defined by characteristic sets of mutations along the maternal lineage. The control region, including hypervariable segments, mutates relatively rapidly and is often sequenced to resolve recent events, while full mitogenome data offer higher resolution and robust phylogeny. MtDNA is inherited as a single haplotype, so recombination is negligible for many population analyses.

Analytical approaches include constructing haplotype networks and phylogenetic trees, estimating coalescent times, and inferring historical demography with skyline plots and other models. Researchers calibrate mutation rates to estimate times to most recent common ancestors and to place migrations and expansions on geographic maps.

Applications span human anthropology, forensic science, and conservation genetics. However, mtDNA reflects only the maternal line and may be affected by selection, bottlenecks, heteroplasmy, and occasional paternal leakage, so conclusions should be integrated with autosomal and Y-chromosome data.

Key resources include MITOMAP, PhyloTree, and EMPOP, which curate mtDNA variants, haplogroups, and population-level data for research and reference.