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Mitochondrial DNA and human evolution

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TLDR
All these mitochondrial DMAs stem from one woman who is postulated to have lived about 200,000 years ago, probably in Africa, implying that each area was colonised repeatedly.
Abstract
▪ 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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Journal ArticleDOI

Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data.

TL;DR: In this article, a framework for the study of molecular variation within a single species is presented, where information on DNA haplotype divergence is incorporated into an analysis of variance format, derived from a matrix of squared-distances among all pairs of haplotypes.
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Population growth makes waves in the distribution of pairwise genetic differences.

TL;DR: In this article, the authors present histograms showing the relative frequencies of pairs of individuals who differ by i sites, where i = 0, 1,.... In this distribution an episode of growth generates a wave that travels to the right, traversing 1 unit of the horizontal axis in each 1/2u generations, where u is the mutation rate.
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Intraspecific Phylogeography: The Mitochondrial DNA Bridge Between Population Genetics and Systematics

TL;DR: This poster presents a probabilistic procedure to characterize the response of the immune system to E.coli bacteria and shows clear patterns in response to the presence of E. coli.
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A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine

TL;DR: The mitochondria provide a direct link between the authors' environment and their genes and the mtDNA variants that permitted their forbears to energetically adapt to their ancestral homes are influencing their health today.
References
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Journal ArticleDOI

Sequence and organization of the human mitochondrial genome

TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
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Mitochondrial DNA sequences of primates: tempo and mode of evolution.

TL;DR: Genealogical analysis of the sequence differences supports the view that the human lineage branched off only slightly before the gorilla and chimpanzee lineages diverged and strengthens the hypothesis that humans are more related to gorillas and chimpanzees than is the orangutan.
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Maternal inheritance of human mitochondrial DNA

TL;DR: The results of this study demonstrate that human mitochondrial DNA is maternally inherited and represents a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
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Estimating Phylogenetic Trees from Distance Matrices

TL;DR: The distance Wagner procedure is applicable to data matrices of immunological distance, such as that of Sarich (1969a), in which between-OTU comparisons are evaluated but for which no attributes of the OTUs themselves are directly observable.
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