An apportionment of human DNA diversity.

It is often taken for granted that the human species is divided in rather homogeneous groups or races, among which biological differences are large. Studies of allele frequencies do not support this view, but they have not been sufficient to rule it out either. We analyzed human molecular diversity at 109 DNA markers, namely 30 microsatellite loci and 79 polymorphic restriction sites (restriction fragment length polymorphism loci) in 16 populations of the world. By partitioning genetic variances at three hierarchical levels of population subdivision, we found that differences between members of the same population account for 84.4% of the total, which is in excellent agreement with estimates based on allele frequencies of classic, protein polymorphisms. Genetic variation remains high even within small population groups. On the average, microsatellite and restriction fragment length polymorphism loci yield identical estimates. Differences among continents represent roughly 1/10 of human molecular diversity, which does not suggest that the racial subdivision of our species reflects any major discontinuity in our genome.

[1]  B. Latter.  Genetic Differences Within and Between Populations of the Major Human Subgroups , 1980, The American Naturalist.

[2]  L. Excoffier,et al.  Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. , 1992, Genetics.

[3]  L. Excoffier,et al.  Nuclear DNA polymorphism in a Mandenka population from Senegal: Comparison with eight other human populations , 1995, Annals of human genetics.

[4]  E. Mayr.  Animal Species and Evolution , 1964 .

[5]  C. Stringer,et al.  Genetic and fossil evidence for the origin of modern humans. , 1988, Science.

[6]  R. Sokal,et al.  Genetic population structure of Italy. II. Physical and cultural barriers to gene flow. , 1991, American journal of human genetics.

[7]  L. Issel-Tarver,et al.  Genes and languages in Europe: an analysis of mitochondrial lineages. , 1995, Genome research.

[8]  G. Bertorelle,et al.  High mitochondrial sequence diversity in linguistic isolates of the Alps. , 1996, American journal of human genetics.

[9]  R R Sokal,et al.  Zones of sharp genetic change in Europe are also linguistic boundaries. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[10]  J. Bertranpetit,et al.  Principal component analysis of gene frequencies and the origin of Basques. , 1994, American journal of physical anthropology.

[11]  M. Nei,et al.  Evolutionary relationships of human populations on a global scale. , 1993, Molecular biology and evolution.

[12]  K. Hawkes,et al.  African populations and the evolution of human mitochondrial DNA. , 1991, Science.

[13]  L. Cavalli-Sforza,et al.  High resolution of human evolutionary trees with polymorphic microsatellites , 1994, Nature.

[14]  N. Takahata,et al.  Allelic genealogy and human evolution. , 1993, Molecular biology and evolution.

[15]  M. Nei,et al.  Genic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids. , 1974, American journal of human genetics.

[16]  M. Nei,et al.  Differences in the relative distribution of human gene diversity between electrophoretic and red and white cell antigen loci. , 1983, Human heredity.

[17]  G. Barbujani,et al.  Genetic diversity in the Caucasus. , 1994, Human biology.

[18]  G. Armelagos.  Racism and physical anthropology: Brues's review of Barkan's The retreat of scientific racism. , 1994, American journal of physical anthropology.

[19]  M W Feldman,et al.  Genetic absolute dating based on microsatellites and the origin of modern humans. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[20]  M. Nei,et al.  Relationships between gene trees and species trees. , 1988, Molecular biology and evolution.