Mismatch distributions of mtDNA reveal recent human population expansions.

Although many genetic studies of human evolution have tried to make distinctions between the replacement and the multiregional evolution hypotheses, current methods and data have not resolved the issue. However, new advances in nucleotide divergence theory can complement these investigations with a description of human demographic behavior during the late Middle and Upper Paleolithic (approximately the last 250,000 years). Restriction fragment length polymorphism (RFLP) and DNA sequence analyses of human mitochondrial DNAs (mtDNAs) from 25 ethnic and racial groups indicate that significant expansions occurred during the late Middle and Upper Paleolithic in 23 of the 25 populations examined. Estimates for the individual group expansion times are consistently less than 100,000 years ago with a mean expansion time of approximately 40,000 years ago. The dramatic expansions suggested by these data occurred well after modern human anatomy appeared, approximately 100,000 years ago, but are concordant with archeological evidence for the expansion of modern human technology, approximately 50,000 years ago.

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

[2]  Error introduced by the infinite-site model. , 1992, Molecular biology and evolution.

[3]  A. Rogers GENETIC EVIDENCE FOR A PLEISTOCENE POPULATION EXPLOSION , 1995, Evolution; international journal of organic evolution.

[4]  H. Harpending,et al.  Signature of ancient population growth in a low-resolution mitochondrial DNA mismatch distribution. , 1994, Human biology.

[5]  M. Stoneking,et al.  Geographic variation in human mitochondrial DNA from Papua New Guinea. , 1990, Genetics.

[6]  S. Pääbo,et al.  Extensive mitochondrial diversity within a single Amerindian tribe. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[7]  A. Wilson,et al.  Mitochondrial DNA sequences in single hairs from a southern African population. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[8]  Stephen T. Sherry,et al.  The Genetic Structure of Ancient Human Populations , 1993, Current Anthropology.

[9]  M. Stoneking,et al.  Rate of sequence divergence estimated from restriction maps of mitochondrial DNAs from Papua New Guinea. , 1986, Cold Spring Harbor symposia on quantitative biology.

[10]  M. Stoneking,et al.  Mitochondrial DNA and human evolution , 1987, Nature.

[11]  M. Slatkin,et al.  Pairwise comparisons of mitochondrial DNA sequences in stable and exponentially growing populations. , 1991, Genetics.

[12]  W. Li,et al.  Distribution of nucleotide differences between two randomly chosen cistrons in a finite population. , 1977, Genetics.

[13]  F. Sanger,et al.  Sequence and organization of the human mitochondrial genome , 1981, Nature.

[14]  J. Felsenstein,et al.  Estimating effective population size from samples of sequences: inefficiency of pairwise and segregating sites as compared to phylogenetic estimates. , 1992, Genetical research.

[15]  H. Soodyall Mitochondrial DNA polymorphisms in Southern African populations. , 1993 .

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

[17]  S T Sherry,et al.  New approaches to dating suggest a recent age for the human mtDNA ancestor. , 1992, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

[18]  K. Hawkes,et al.  Demography of the Hadza, an increasing and high density population of Savanna foragers. , 1992, American journal of physical anthropology.

[19]  S. Horai,et al.  Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. , 1990, American journal of human genetics.