Using gene frequency data for 29 polymorphic loci (121 alleles), we conducted a phylogenetic analysis of 26 representative populations from around the world by using the neighbor-joining (NJ) method. ...We also conducted a separate analysis of 15 populations by using data for 33 polymorphic loci. These analyses have shown that the first major split of the phylogenetic tree separates Africans from non-Africans and that this split occurs with a 100% bootstrap probability. The second split separates Caucasian populations from all other non-African populations, and this split is also supported by bootstrap tests. The third major split occurs between Native American populations and the Greater Asians that include East Asians (mongoloids), Pacific Islanders, and Australopapuans (native Australians and Papua New Guineans), but Australopapuans are genetically quite different from the rest of the Greater Asians. The second and third levels of population splitting are quite different from those of the phylogenetic tree obtained by Cavalli-Sforza et al. (1988), where Caucasians, Northeast Asians, and Ameridians from the Northeurasian supercluster and the rest of non-Africans form the Southeast Asian supercluster. One of the major factors that caused the difference between the two trees is that Cavalli-Sforza et al. used unweighted pair-group method with arithmetic mean (UPGMA) in phylogenetic inference, whereas we used the NJ method in which evolutionary rate is allowed to vary among different populations. Bootstrap tests have shown that the UPGMA tree receives poor statistical support whereas the NJ tree is well supported. Implications that the phylogenetic tree obtained has on the current controversy over the out-of-Africa and the multiregional theories of human origins are discussed.
It has been proposed that modern humans evolved from a small ancestral population, which appeared several hundred thousand years ago in Africa. Descendants of the founder group migrated to Europe and ...then to Asia, not mixing with the pre-existing local populations but replacing them. Two demographic elements are present in this “out of Africa” hypothesis: numerical growth of the modern humans and their migration into Eurasia. Did these processes leave an imprint in our DNA? To address this question, we use the classical Fisher–Wright–Moran model of population genetics, assuming variable population size and two models of mutation: the infinite-sites model and the stepwise-mutation model. We use the coalescence theory, which amounts to tracing the common ancestors of contemporary genes. We obtain mathematical formulae expressing the distribution of alleles given the time changes of population size . In the framework of the infinite-sites model, simulations indicate that the pattern of past population size change leaves its signature on the pattern of DNA polymorphism. Application of the theory to the published mitochondrial DNA sequences indicates that the current mitochondrial DNA sequence variation is not inconsistent with the logistic growth of the modern human population. In the framework of the stepwise-mutation model, we demonstrate that population bottleneck followed by growth in size causes an imbalance between allele-size variance and heterozygosity. We analyze a set of data on tetranucleotide repeats which reveals the existence of this imbalance. The pattern of imbalance is consistent with the bottleneck being most ancient in Africans, most recent in Asians and intermediate in Europeans. These findings are consistent with the “out of Africa” hypothesis, although by no means do they constitute its proof.
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IJS, IMTLJ, KILJ, KISLJ, NUK, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
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