Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers


Our genomes bear signatures of past events thatcan be exploited to understand history of our species. There is consensus based on over a century of interdisciplinary research that our species emerged in Africa, but several aspects of modern human evolution is still outstanding. In this review, I highlights some major findings in genetic studies of human history using genetic markers and inferences made on history of human populations based on these markers in the context of evidence from other fields. I then suggest future undertakings in the field of genetic research of human history to have a more refined picture of our species.

Key Concepts

  • Despite over a century of research on human history several questions on human origins are still outstanding
  • Analysis of molecular markers have yielded history of modern human, but still needs further refinement.
  • Comprehensive data that captures genetic variations needs to be generated
  • More sophisticated and realistic statistical approach needs to be developed
  • Integrating interdisciplinary data will help in refining and achieve better interpretations of history of our species

Keywords: human evolution; human history; migrations; population expansions; genetic markers; selection; ancient admixture

Figure 1. (a) Nomenclature for major lineages of Y chromosome. Haplogroup F encompasses haplogroups F to T. Haplogroups A, B and E are mainly found in Africa while the rest are found mainly outside Africa. The mean tmrca estimate progressively decrease from left to right with the oldest haplogroup being A and youngest F. Despite several studies indicating the age of Y chromosome lineage being around 200 kya, a study has estimated tmrca for Y chromosome to be 338 kya (Mendez et al., ). Relative proportions of the haplogroups in global populations are shown as funnel size. (b) Overview of mtDNA haplogroup phylogeny. In the mtDNA haplogroup nomenclature, the letter names of the haplogroups run from A to Z, with further subdivisions using numbers (from 0) and lower case letters (from a). The naming was done in the order of their discovery and does not reflect the actual genetic relationships. Haplogroups M and N encompass all the haplogroups lettered A to Z excluding haplogroup L. Haplogroups L (L0–L6) are mainly found in Africa while the rest are found mainly outside Africa (Behar et al., ; Figure ). The mean tmrca estimate progressively decrease from left to right with the oldest haplogroup being L0 and youngest M and N. Relative proportions of the haplogroups in global populations are shown as funnel size.
Figure 2. Broad pattern of human migrations within and out‐of‐Africa based on mtDNA data (from MITOMAP). Two distinct sets of mtDNA N lineages, ‘European R clade’ containing the haplogroups H, J, T, U, Uk and V, and an eastern ‘Eurasian N subclade’ containing haplogroups B, F, P, Y, S and A (plus M), which potentially correspond to northern (3) and southern (4) route expansion, respectively (Alexe et al., ). As argued in the text, the initial exit out‐of‐Africa might only be through the Sinai Peninsula (3), after which the expansions differentiated into the two routes outside Africa. Time estimates are year before present. Age estimates of major migration events between continents broadly correspond with those obtained from autosomal genetic data and archaeological evidence. However, recent estimate of initial migration into Americas using autosomal data is 23 000 years ago (Raghavan et al., ). Reproduced from licensed under the Creative Commons Attribution 3.0 License.


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Further Reading

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Oppenheimer S (2012) A single southern exit of modern humans from Africa: before or after Toba? The Toba Volcanic Super‐Eruption of 74000 Years Ago: Climate Change, Environments, and Evolving Humans. Quaternary International 258: 88–99.

Racimo F, Sankararaman S, Nielsen R and Huerta‐Sanchez E (2015) Evidence for archaic adaptive introgression in humans. Nature Reviews Genetics 16: 359–371.

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Hirbo, Jibril(Nov 2015) Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020819.pub2]