A new statistical method for estimating divergence dates of species from DNA sequence data by a molecular clock approach is developed. This method takes into account effectively the information contained in a set of DNA sequence data. The molecular clock of mitochondrial DNA (mtDNA) was calibrated by setting the date of divergence between primates and ungulates at the Cretaceous-Tertiary boundary (65 million years ago), when the extinction of dinosaurs occurred. A generalized least-squares method was applied in fitting a model to mtDNA sequence data, and the clock gave dates of 92.3 +/- 11.7, 13.3 +/- 1.5, 10.9 +/- 1.2, 3.7 +/- 0.6, and 2.7 +/- 0.6 million years ago (where the second of each pair of numbers is the standard deviation) for the separation of mouse, gibbon, orangutan, gorilla, and chimpanzee, respectively, from the line leading to humans. Although there is some uncertainty in the clock, this dating may pose a problem for the widely believed hypothesis that the pipedal creature Australopithecus afarensis, which lived some 3.7 million years ago at Laetoli in Tanzania and at Hadar in Ethiopia, was ancestral to man and evolved after the human-ape splitting. Another likelier possibility is that mtDNA was transferred through hybridization between a proto-human and a proto-chimpanzee after the former had developed bipedalism.

Dating of the human-ape splitting by a molecular clock of mitochondrial DNA.

1Department of Genetics, University of Georgia, Athens, Georgia 30602; 2NMFS/ CZES, Genetics, 2725 Montlake Boulevard East, Seattle, Washington 98112; 3Savannah River Ecology Laboratory, Drawer E, Aiken, South Carolina 29801; ~Department of Microbiology and Immunology, School of Medicine, University of California, Los Angeles, California 90024; -SSchool f Veterinary Medicine, Virginia Tech University, Blacksburg, Virginia 24046

/pdf/intraspecific-phylogeography-the-mitochondrial-dna-bridge-5e2au5n1qt.pdf

Intraspecific Phylogeography: The Mitochondrial DNA Bridge Between Population Genetics and Systematics

Human mitochondrial DNA (mtDNA) restriction endonuclease fragment patterns were analyzed using total blood cell DNA isolated from 200 individuals representing five different populations. Thirty-two fragment patterns (morphs) were observed with the enzymes Hpa I, Bam HI, Hae II, Msp I and Ava II yielding thirty-five different combinations of fragment patterns (mt DNA types). The major ethnic groups exhibit quantitative as well as qualitative differences in their mtDNA types, all of which are related to each other by a tree in which the closely related mtDNA types cluster according to geographic origin.

Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns

By high-resolution, restriction mapping of mitochondrial DNAs purified from 112 human individuals, we have identified 14 length variants caused by small additions and deletions (from about 6 to 14 base pairs in length). Three of the 14 length differences are due to mutations at two locations within the D loop, whereas the remaining 11 occur at seven sites that are probably within other noncoding sequences and at junctions between coding sequences. In five of the nine regions of length polymorphism, there is a sequence of five cytosines in a row, this sequence being comparatively rare in coding DNA. Phylogenetic analysis indicates that, in most of the polymorphic regions, a given length mutation has arisen several times independently in different human lineages. The average rate at which length mutations have been arising and surviving in the human species is estimated to be many times higher for noncoding mtDNA than for noncoding nuclear DNA. The mystery of why vertebrate mtDNA is more prone than nuclear DNA to evolve by point mutation is now compounded by the discovery of a similar bias toward rapid evolution by length mutation.

/pdf/length-mutations-in-human-mitochondrial-dna-31u7jnmmmk.pdf

Length mutations in human mitochondrial dna

Mitochondrial DNA (mtDNA) from 116 Japanese was analyzed with nine restriction enzymes that recognize a four or five base pair sequence. The sizes of the mtDNA fragments produced by digestion by each enzyme were compared after gel electrophoresis. Double digestion experiments indicated that, in the coding region from URF2 (unidentified reading frame) to tRNAAsn (bp 5274-5691), there is an insertion of about 60 base pairs (bp) compared with the published mtDNA sequence, which is common to all individuals in the present sample. A total of 95 different morphs were detected with the nine enzymes, 60 of which have not been documented previously. Based on a comparison of the cleavage maps of all individuals, 62 different combinations of restriction types were observed. By pairwise comparison of each restriction type, the average number of nucleotide substitutions per nucleotide site (delta) was estimated to be 0.0026. Phylogenetic analysis of the present data indicates that at least two distinct lineages exist in the Japanese population.

Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition.

Preliminary mapping of 346 cleavage sites in the mitochondrial genome of 100 human beings gives evidence that the genes for transfer RNA are highly variable, a result that points to the need for testing the accuracy of mitochondrial protein synthesis. In addition, the map comparisons imply that Australia has as much mtDNA diversity as any other area tested in the Old World. Assuming a model of strictly maternal inheritance, it appears possible to follow individual female lineages back hundreds of generations thereby providing human genetics with an important new measure of population heterogeneity. This measure, when compared with those available from protein and morphologic considerations, will help highlight particular groups of people whose mitochondria may increase greatly our understanding of the historical processes leading to the evolution of our own species.

Evolution of human mitochondrial DNA: a preliminary report.

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Evolution of human mitochondrial DNA: a preliminary report.