Tracing European Founder Lineages In The Near Eastern Mtdna Pool

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American Journal of Human Genetics. — 2000. — No 67 — pp. 1251–1276.
Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus databases to 1,234, 2,804, and 208 samples, respectively. Both back-migration into the source population and recurrent mutation in the source and derived populations represent major obstacles to this approach. We have developed phylogenetic criteria to take account of both these factors, and we suggest a way to account for multiple dispersals of common sequence types. We conclude that (i) there has been substantial back-migration into the Near East, (ii) the majority of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest fraction of surviving lineages, and (iv) the immigrant Neolithic component is likely to comprise less than one-quarter of the mtDNA pool of modern Europeans.

E-Book Content

Am. J. Hum. Genet. 67:1251–1276, 2000 Tracing European Founder Lineages in the Near Eastern mtDNA Pool Martin Richards,1,3 Vincent Macaulay,1,2 Eileen Hickey,1 Emilce Vega,1 Bryan Sykes,1 Valentina Guida,6 Chiara Rengo,6,7 Daniele Sellitto,6 Fulvio Cruciani,6 Toomas Kivisild,8 Richard Villems,8 Mark Thomas,4 Serge Rychkov,9 Oksana Rychkov,9 Yuri Rychkov,9,* Mukaddes Go¨lge,10 Dimitar Dimitrov,5 Emmeline Hill,11 Dan Bradley,11 Valentino Romano,12,13 Francesco Calı`,12 Giuseppe Vona,14 Andrew Demaine,15 Surinder Papiha,16 Costas Triantaphyllidis,17 Gheorghe Stefanescu,18 Jirˇi Hatina,19 Michele Belledi,20,* Anna Di Rienzo,21 Andrea Novelletto,22 Ariella Oppenheim,23 Søren Nørby,24 Nadia Al-Zaheri,25 Silvana Santachiara-Benerecetti,26 Rosaria Scozzari,4 Antonio Torroni,6,27 and Hans-Ju¨rgen Bandelt28 1 Institute of Molecular Medicine and 2Department of Statistics, University of Oxford, Oxford; 3Department of Biology and 4Center for Genetic Anthropology, Departments of Anthropology and Biology, University College London, and 5The Linnaean Society of London, London; 6 Dipartimento di Genetica e Biologia Molecolare, Universita` di Roma “La Sapienza”, and 7Istituto di Medicina Legale, Universita` Catto`lica del Sacro Cuore, Rome; 8Department of Evolutionary Biology, Tartu University, Tartu, Estonia; 9Human Genetics Laboratory, Institute of General Genetics, Moscow; 10Department of Physiology, University of Kiel, Kiel; 11Department of Genetics, Trinity College, Dublin; 12 Associazione Oasi Maria SS, Istituto di Ricovero e Cura a Carattere Scientifico per lo Studio del Ritardo Mentale e dell’Involuzione Cerebrale, Troina, Italy; 13Dipartimento di Biopatologia e Metodologie Biomediche, Universita` di Palermo; 14Dipartimento di Biologia Sperimentale, Sezione di Antropologia, Universita` di Cagliari, Cagliari, Italy; 15Postgraduate Medical School, University of Plymouth, Plymouth, United Kingdom; 16Department of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne; 17 Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece; 18Institutul de Cercetari Biologice, Ias¸i, Romania; 19Charles University, Medical Faculty
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