Mismatch distributions of mtDNA reveal recent human population expansions

Abstract

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.