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Mitochondrial genome variation and the origin of modern humans
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
2000 In: Nature, ISSN 0028-0836, Vol. 408, no 6813, 708-713 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2000. Vol. 408, no 6813, 708-713 p.
URN: urn:nbn:se:uu:diva-90835OAI: oai:DiVA.org:uu-90835DiVA: diva2:163325
Available from: 2003-09-18 Created: 2003-09-18Bibliographically approved
In thesis
1. Mitochondria and Human Evolution
Open this publication in new window or tab >>Mitochondria and Human Evolution
2003 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. In addition, a comparatively high rate of nucleotide substitution facilitates phylogenetic resolution among relatively closely related individuals of the same species.

In this thesis, a statistically supported phylogeny based on complete mitochondrial genome sequences is presented which, for the first time, unambiguously places the root of modern human mitochondrial lineages in Africa in the last 200 thousand years. This conclusion provides strong support for the “recent African origin” hypothesis. Also, the complete genome data underline the problematic nature of traditional approaches to analyses of mitochondrial phylogenies.

The dispersal of anatomically modern humans from the African continent is examined through single nucleotide polymorphism (SNP) and sequence data. These data imply an expansion from Africa about 57 thousand years ago and a subsequent population dispersal into Asia. The dispersal coincides with a major population division that may be the result of multiple migratory routes to East Asia.

Also investigated is the question of a common origin for the indigenous peoples of Australia and New Guinea. Previous studies have been equivocal on this question with some presenting evidence for a common genetic origin and other proposing separate histories. Our data reveals an ancient genetic link between Australian Aborigines and the peoples of the New Guinea highlands.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2003. 53 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1288
Genetics, mitochondria, hominidae, human evolution, population genetics, Genetik
National Category
Medical Genetics
Research subject
urn:nbn:se:uu:diva-3580 (URN)91-554-5738-X (ISBN)
Public defence
2003-10-11, Rudbecksalen, Rudbeck Laboratory, Uppsala, 09:15
Available from: 2003-09-18 Created: 2003-09-18Bibliographically approved

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