Paolo Menozzi

Demic expansions and human evolution

Geographic expansions are caused by successful innovations, biological or cultural, that favor local growth and movement. They have had a powerful effect in determining the present patterns of human genetic geography. Modern human populations expanded rapidly across the Earth in the last 100,000 years. At the end of the Paleolithic (10,000 years ago) only a few islands and other areas were unoccupied. The number of inhabitants was then about one thousand times smaller than it is now. Population densities were low throughout the Paleolithic, and random genetic drift was therefore especially effective. Major genetic differences between living human groups must have evolved at that time. Population growths that began afterward, especially with the spread of agriculture, progressively reduced the drift in population and the resulting genetic differentiation. Genetic traces of the expansions that these growths determined are still recognizable.

The HLA-A,B gene frequencies in the world: Migration or selection?

Multivariate methods make it possible to condense much of the information available for a large number of alleles into one or a few synthetic variables. The geographic distribution of synthetic variables can be analyzed and plotted by the same technique used in analyzing and mapping the gene frequency of a single allele. The information contained in 21 HLA-A and HLA-B alleles from 116 world populations is condensed in principal components and discriminant functions which describe the global variation of gene frequencies along longitudes and along latitudes. Most genetic variation is associated with longitude and shows a center of symmetry in Asia. Thus Asia, or some part of it, may have been the center, both geographically and historically, of late Pleistocene migrations. However, latitude also plays a significant role (perhaps 10% of the genetic variation). A remarkable symmetry of the latitude variation in opposite (north and south) hemispheres suggest that climatic factors exercise selective pressure for certain HLA alleles. More specifically A1, A3, B7, B8, and B27 show about equally high correlation coefficients (between 0.45 and 0.55) with distance from equator. This result supports the idea that the well-known linkage disequilibria between A1 and B8, A3 and B7 are probably kept by selective pressure.