Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers

• Published in: American journal of human genetics 2003-05, Vol.72 (5), p.1171-1186
• Main Authors: Zhivotovsky, Lev A., Rosenberg, Noah A., Feldman, Marcus W.
• Format: Article
• Language: English
• Subjects: Africa; Alleles; Americas; Biological Evolution; Cluster Analysis; Demography; Europe; Far East; Genetic Variation; Genome; Humans; Microsatellite Repeats - genetics; Mutation; Pacific Islands; Population Dynamics
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/375120

We study data on variation in 52 worldwide populations at 377 autosomal short tandem repeat loci, to infer a demographic history of human populations. Variation at di-, tri-, and tetranucleotide repeat loci is distributed differently, although each class of markers exhibits a decrease of within-population genetic variation in the following order: sub-Saharan Africa, Eurasia, East Asia, Oceania, and America. There is a similar decrease in the frequency of private alleles. With multidimensional scaling, populations belonging to the same major geographic region cluster together, and some regions permit a finer resolution of populations. When a stepwise mutation model is used, a population tree based on T D estimates of divergence time suggests that the branches leading to the present sub-Saharan African populations of hunter-gatherers were the first to diverge from a common ancestral population (∼71–142 thousand years ago). The branches corresponding to sub-Saharan African farming populations and those that left Africa diverge next, with subsequent splits of branches for Eurasia, Oceania, East Asia, and America. African hunter-gatherer populations and populations of Oceania and America exhibit no statistically significant signature of growth. The features of population subdivision and growth are discussed in the context of the ancient expansion of modern humans.