Equilibrium models of isolation by distance predict an increase in genetic differentiation with geographic distance. Here we find a linear relationship between genetic and geographic distance in a worldwide sample of human populations, with major deviations from the fitted line explicable by admixture or extreme isolation. A close relationship is shown to exist between the correlation of geographic distance and genetic differentiation (as measured by F ST) and the geographic pattern of heterozygosity across populations. Considering a worldwide set of geographic locations as possible sources of the human expansion, we find that heterozygosities in the globally distributed populations of the data set are best explained by an expansion originating in Africa and that no geographic origin outside of Africa accounts as well for the observed patterns of genetic diversity. Although the relationship between F ST and geographic distance has been interpreted in the past as the result of an equilibrium model of drift and dispersal, simulation shows that the geographic pattern of heterozygosities in this data set is consistent with a model of a serial founder effect starting at a single origin. Given this serial-founder scenario, the relationship between genetic and geographic distance allows us to derive bounds for the effects of drift and natural selection on human genetic variation.genetic distance ͉ genetic drift ͉ HGDP-CEPH ͉ human origins ͉ microsatellites A regular decrease of genetic similarity with increasing geographic distance has been predicted by the theory of isolation by distance (1) and by the stepping-stone model (2), under the assumption that movement connected with mating is usually restricted to short distances (3, 4). Data on genetic polymorphisms have confirmed a strong association between genetic and geographic distance; early studies were generally limited to short geographic ranges and within-regional analyses (5, 6), but later studies have been extended to wider areas (7-9). Here, we regress a measure of genetic differentiation on geographic distance at the global level using 783 microsatellite loci from the Human Genome Diversity Project-Centre d'Etude du Polymorphisme Humain (HGDP-CEPH) worldwide sample of populations (10, 11). We then use simulations to examine a serial founder effect scenario as a possible explanation for the observed relationship between genetic and geographic distance. Materials and MethodsData.

This comparison of morphological and neutral genetic variation in 10 human populations was designed to test a neutral hypothesis of cranial evolution in living and recent humans and to explain deviations from neutrality where detected. Overall, among-population differences in extant Homo sapiens cranial morphology are proportional to among-population differences in neutral molecular characteristics. For most of the populations studied, cranial morphology varies among regions in a manner consistent with neutral expectations. Removal of the effects of shared population history and structure by using the partial Mantel's test, however, does not remove the correlation between some aspects of cranial morphology and a measure of coldness of climate. The excess differentiation is most apparent in those population comparisons that involve a Siberian population living in an extremely cold environment. This finding suggests the action of natural selection, associated with regional variation in temperature, leading to among-population differentiation in excess of neutral expectations for some cranial dimensions. Those dimensions reflect the breadth of the skull, cranial vault size and shape, and aspects of nasal morphology. Although morphology for most of the world appears to vary among populations in accordance with neutral expectations in the context of population structure and history, morphology of the Siberian population appears to have undergone adaptation by natural selection.

Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52 distinct haplotypes with considerable haplogroup substructure, as exemplified by their respective levels of accumulated diversity at ten short tandem repeat (STR) loci. The major components (haplogroups E3b, G, J, I, L, N, K2, and R1; 94.1%) are shared with European and neighboring Near Eastern populations and contrast with only a minor share of haplogroups related to Central Asian (C, Q and O; 3.4%), Indian (H, R2; 1.5%) and African (A, E3*, E3a; 1%) affinity. The expansion times for 20 haplogroup assemblages was estimated from associated STR diversity. This comprehensive characterization of Y-chromosome heritage addresses many multifaceted aspects of Anatolian prehistory, including: (1) the most frequent haplogroup, J, splits into two sub-clades, one of which (J2) shows decreasing variances with increasing latitude, compatible with a northward expansion; (2) haplogroups G1 and L show affinities with south Caucasus populations in their geographic distribution as well as STR motifs; (3) frequency of haplogroup I, which originated in Europe, declines with increasing longitude, indicating gene flow arriving from Europe; (4) conversely, haplogroup G2 radiates towards Europe; (5) haplogroup E3b3 displays a latitudinal correlation with decreasing frequency northward; (6) haplogroup R1b3 emanates from Turkey towards Southeast Europe and Caucasia and; (7) high resolution SNP analysis provides evidence of a detectable yet weak signal (<9%) of recent paternal gene flow from Central Asia. The variety of Turkish haplotypes is witness to Turkey being both an important source and recipient of gene flow.