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

By analysing genetic variation between and within extant human populations it is possible to make inferences about the origins and relationships of our ancestors. Although the autosomes give us a representative account of genomic history in humans, the unique characteristics of the maternally inherited mitochondrial deoxyribonucleic acid (mtDNA) and the paternally inherited Y chromosome can provide information about the histories specific to women and men. Current evidence suggests a recent African origin for modern humans <200 thousand years ago (KYA) and a single small migration out of Africa 50–70 KYA, with progressive loss of diversity with distance from Africa, somewhat complicated by sex-specific effects and natural selection.

Keywords: Y chromosome; mtDNA; autosomal markers; human history; migrations

Figure 1. Estimated TMRCA for mtDNA, NRY and six autosomal regions. Produced from data in Excoffier (2002).
Figure 2. Geographical distribution of Y chromosome haplotypes. Adapted from Jobling and Tyler-Smith (2003), Copyright 2003, with permission from Nature Publishing Group.
Figure 3. Relationship between genetic diversity and geographic distance from Africa for 51 distinct populations. Adapted from Prugnolle et al. (2005), Copyright 2005, with permission from Elsevier.
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    Wilkins JF (2006) Unraveling male and female histories from human genetic data. Current Opinion in Genetics & Development 16: 611–617.
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Yngvadottir, Bryndis, and Carvalho‐Silva, Denise R(May 2008) Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020819]