Mitochondrial Genome: Evolution


Mitochondria, organelles that are responsible for producing energy for cell metabolism and also involved in cell death and ageing, contain their own genome. This genome has several unusual properties including a high copy number, a maternal and haploid mode of inheritance and a rapid rate of evolution. Recent advances in next‐generation sequencing methods have made it feasible to obtain complete mitochondrial deoxyribonucleic acid (mtDNA) genome sequences quickly and at low‐cost, providing new insights into human mtDNA variation and evolution. These methods also enable much more detailed studies of heteroplasmy across the entire mtDNA genome, which may be important in mtDNA‐associated diseases and cancer. It is also feasible to obtain complete mtDNA genome sequences from Neanderthals and other archaic humans, thereby providing further insights into human evolution.

Key Concepts:

  • Mitochondria have their own genome, which has a separate origin from the nuclear genome.

  • The mitochondrial genome has several unusual properties compared with the nuclear genome, including high copy number, maternal and haploid mode of inheritance and a rapid rate of evolution.

  • Next‐generation sequencing and other technical advances make it feasible to obtain complete mtDNA genome sequences rapidly and at low cost from large samples of individuals and are providing new insights into mtDNA variation and heteroplasmy.

  • MtDNA analyses support the hypothesis of a recent African origin of modern humans.

  • Archaic humans, such as Neandertals and Denisovans, did not contribute mtDNA to modern humans.

Keywords: mitochondrial DNA; evolution; human mtDNA variation; human origins; heteroplasmy; rate of mtDNA evolution; archaic humans; maternal inheritance

Figure 1.

The human mtDNA genome, with functional regions indicated as follows: two rRNA genes (12S and 16S); three genes for subunits of cytochrome oxidase (COI–COIII); seven genes for subunits of reduced form of (NADH) dehydrogenase (N1–N6, N4L); two genes for subunits of F1 (ATPase) (6 and 8); the cytochrome b gene; 22 tRNA genes (designated by the standard single‐letter code); two origins of replication (OH and OL) and the control region (the major noncoding region).

Figure 2.

Schematic depiction of the phylogenetic relationships of mtDNA sequences from modern humans, Neanderthals and the Denisovan individual. Note that for modern humans, the phylogenetic tree divides into two primary branches, one consisting exclusively of African mtDNA types and the other consisting of some African mtDNA types and all non‐African mtDNA types. Numbers on branches indicate approximate divergence times (Ma, million years ago; Ka, thousand years ago).



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Stoneking, Mark(Apr 2013) Mitochondrial Genome: Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005074.pub3]