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Mitochondrial DNA haplogroup

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Hypothesized map of human migration based on mitochondrial DNA.

In human genetics, a human mitochondrial DNA haplogroup is a haplogroup determined by differences in human mitochondrial DNA. These differences are groupings of haplotypes defined by combinations of single-nucleotide polymorphisms (SNPs). The groupings form as a result of the sequential accumulation of mutations through matrilineal generations.[1][2][3]

Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread across the globe.

The letter names of the haplogroups run from A to Z. As haplogroups were named in the order of their discovery, they do not reflect the actual genetic relationships.

The woman at the root of all these groups is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve.

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References

  1. Behar, Doron M., Mannis van Oven, Saharon Rosset, Mait Metspalu, Eva-Liis Loogväli, Nuno M. Silva, Toomas Kivisild, Antonio Torroni, and Richard Villems. "A 'Copernican' Reassessment of the Human Mitochondrial DNA Tree from Its Root." American Journal of Human Genetics 90:4 (6 April 2012): 675–84. DOI: https://doi.org/10.1016/j.ajhg.2012.03.002.
  2. Wallace, Douglas C. "Bioenergetics in Human Evolution and Disease: Implications for the Origins of Biological Complexity and the Missing Genetic Variation of Common Diseases." Philosophical Transactions of the Royal Society B: Biological Sciences 368:1622 (19 July 2013): 20120267. DOI: https://doi.org/10.1098/rstb.2012.0267.
  3. Mitchell, Sabrina L., Robert Goodloe, Kristin Brown-Gentry, Sarah A. Pendergrass, Deborah G. Murdock, and Dana C. Crawford. "Characterization of Mitochondrial Haplogroups in a Large Population-Based Sample from the United States." Human Genetics 133:7 (July 2014): 861–68. DOI: https://doi.org/10.1007/s00439-014-1421-9.


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