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Tracing European founder lineages in the Near Eastern mtDNA pool
M Richards1, V Macaulay, E Hickey
1Institute of Molecular Medicine, University of Oxford, Oxford; and Department of Biology, University College London, United Kingdom. M.B.Richards@hud.ac.uk
American Journal of Human Genetics
|October 18, 2000
Summary
Founder analysis of mitochondrial DNA (mtDNA) reveals most European lineages arrived during the Upper Palaeolithic. A significant founder effect occurred during the Last Glacial Maximum, with a smaller Neolithic contribution.
Area of Science:
- Genetics
- Population Genetics
- Archaeogenetics
Background:
- Founder analysis is a method for analyzing nonrecombining DNA sequence data to identify and date migrations.
- Understanding the peopling of Europe requires accurate estimation of Palaeolithic and Neolithic contributions to European mitochondrial DNA (mtDNA) diversity.
Purpose of the Study:
- To apply founder analysis to mtDNA data for estimating the proportion of modern European lineages arriving during different settlement phases.
- To refine estimates of Palaeolithic and Neolithic contributions to European mtDNA diversity.
Main Methods:
- Expanded Near Eastern, European, and northern-Caucasus mtDNA databases to 1,234, 2,804, and 208 samples, respectively.
- Developed phylogenetic criteria to address challenges like back-migration and recurrent mutation.
- Accounted for multiple dispersals of common sequence types.
Main Results:
- Substantial back-migration into the Near East was detected.
- The majority of extant mtDNA lineages entered Europe in several Upper Palaeolithic waves.
- A founder effect or bottleneck during the Last Glacial Maximum (20,000 years ago) accounts for the largest fraction of surviving lineages.
- The immigrant Neolithic component constitutes less than one-quarter of the modern European mtDNA pool.
Conclusions:
- Founder analysis, with refined methods, provides a robust framework for studying population migrations.
- European mtDNA diversity is predominantly shaped by Upper Palaeolithic migrations and a Last Glacial Maximum bottleneck.
- The Neolithic contribution to European mtDNA is significant but secondary to Palaeolithic influxes.