Annu. Rev. Genomics Hum. Genet. 2005. 6:165–83
doi: 10.1146/annurev.genom.6.080604.162249
Copyright c 2005 by Annual Reviews. All rights reserved
First published online as a Review in Advance on May 2, 2005
MITOCHONDRIAL DNA AND HUMAN EVOLUTION
Brigitte Pakendorf and Mark Stoneking
Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany;
email: pakendorf@eva.mpg.de, stoneking@eva.mpg.de
Key Words polymorphism, mutation rate, recombination, maternal inheritance,
ancestry
Abstract
Several unique properties of human mitochondrial DNA (mtDNA), including its high copy number, maternal inheritance, lack of recombination, and high mutation rate, have made it the molecule of choice for studies of human population history and evolution. Here we review the current state of knowledge concerning these properties, how mtDNA variation is studied, what we have learned, and what the future likely holds. We conclude that increasingly, mtDNA studies are (and should be) supplemented with analyses of the Y-chromosome and other nuclear DNA variation. Some serious issues need to be addressed concerning nuclear inserts, database quality, and the possible influence of selection on mtDNA variation. Nonetheless, mtDNA studies will continue to play an important role in such areas as examining socio-cultural influences on human genetic variation, ancient DNA, certain forensic DNA applications, and in tracing personal genetic history.
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