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Letters to Nature
Nature 368, 455 - 457 (31 March 1994); doi:10.1038/368455a0

High resolution of human evolutionary trees with polymorphic microsatellites

A. M.  Bowcock*, A. Ruiz-Linares, J. Tomfohrde*, E. Minch, J. R. Kidd & L. L. Cavalli-Sforza

*Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Mines Blvd, Dallas, Texas 75235-8591, USA
Department of Genetics, Stanford University, Stanford, California 94305, USA
Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06510, USA

GENETIC variation at hypervariable loci is being used extensively for linkage analysis1 and individual identification2, and may be useful for inter-population studies2–5. Here we show that polymorphic microsatellites (primarily CA repeats) allow trees of human individuals to be constructed that reflect their geographic origin with remarkable accuracy. This is achieved by the analysis of a large number of loci for each individual, in spite of the small variations in allele frequencies existing between populations6,7. Reliable evolutionary relationships could also be established in comparisons among human populations but not among great ape species, probably because of constraints on allele length variation. Among human populations, diversity of microsatellites is highest in Africa, which is in contrast to other nuclear markers and supports the hypothesis of an African origin for humans.

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