Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Martin Richards, Vincent Macaulay, Eileen Hickey, Emilce Vega, Bryan Sykes, Valentina Guida, Chiara Rengo, Daniele Sellitto, Fulvio Cruciani, Toomas Kivisild, Richard Villems, Mark Thomas, Serge Rychkov, Oksana Rychkov, Yuri Rychkov, Mukaddes Gölge, Dimitar Dimitrov, Emmeline Hill, Dan Bradley, Valentino Romano & 17 others Francesco Calì, Giuseppe Vona, Andrew Demaine, Surinder Papiha, Costas Triantaphyllidis, Gheorghe Stefanescu, Jiři Hatina, Michele Belledi, Anna Di Rienzo, Andrea Novelletto, Ariella Oppenheim, Søren Nørby, Nadia Al-Zaheri, Silvana Santachiara-Benerecetti, Rosaria Scozzari, Antonio Torroni, Bandelt Hans-Jürgen

Research output: Contribution to journalArticle

718 Citations (Scopus)

Abstract

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.

LanguageEnglish
Pages1251-1276
Number of pages26
JournalAmerican Journal of Human Genetics
Volume67
Issue number5
Early online date16 Oct 2000
DOIs
Publication statusPublished - Nov 2000
Externally publishedYes

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Mitochondrial DNA
Population
Founder Effect
Middle East
Hong Kong
DNA Sequence Analysis
Databases
Mutation

Cite this

Richards, M., Macaulay, V., Hickey, E., Vega, E., Sykes, B., Guida, V., ... Hans-Jürgen, B. (2000). Tracing European Founder Lineages in the Near Eastern mtDNA Pool. American Journal of Human Genetics, 67(5), 1251-1276. https://doi.org/10.1016/S0002-9297(07)62954-1
Richards, Martin ; Macaulay, Vincent ; Hickey, Eileen ; Vega, Emilce ; Sykes, Bryan ; Guida, Valentina ; Rengo, Chiara ; Sellitto, Daniele ; Cruciani, Fulvio ; Kivisild, Toomas ; Villems, Richard ; Thomas, Mark ; Rychkov, Serge ; Rychkov, Oksana ; Rychkov, Yuri ; Gölge, Mukaddes ; Dimitrov, Dimitar ; Hill, Emmeline ; Bradley, Dan ; Romano, Valentino ; Calì, Francesco ; Vona, Giuseppe ; Demaine, Andrew ; Papiha, Surinder ; Triantaphyllidis, Costas ; Stefanescu, Gheorghe ; Hatina, Jiři ; Belledi, Michele ; Di Rienzo, Anna ; Novelletto, Andrea ; Oppenheim, Ariella ; Nørby, Søren ; Al-Zaheri, Nadia ; Santachiara-Benerecetti, Silvana ; Scozzari, Rosaria ; Torroni, Antonio ; Hans-Jürgen, Bandelt. / Tracing European Founder Lineages in the Near Eastern mtDNA Pool. In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 5. pp. 1251-1276.
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Richards, M, Macaulay, V, Hickey, E, Vega, E, Sykes, B, Guida, V, Rengo, C, Sellitto, D, Cruciani, F, Kivisild, T, Villems, R, Thomas, M, Rychkov, S, Rychkov, O, Rychkov, Y, Gölge, M, Dimitrov, D, Hill, E, Bradley, D, Romano, V, Calì, F, Vona, G, Demaine, A, Papiha, S, Triantaphyllidis, C, Stefanescu, G, Hatina, J, Belledi, M, Di Rienzo, A, Novelletto, A, Oppenheim, A, Nørby, S, Al-Zaheri, N, Santachiara-Benerecetti, S, Scozzari, R, Torroni, A & Hans-Jürgen, B 2000, 'Tracing European Founder Lineages in the Near Eastern mtDNA Pool', American Journal of Human Genetics, vol. 67, no. 5, pp. 1251-1276. https://doi.org/10.1016/S0002-9297(07)62954-1

Tracing European Founder Lineages in the Near Eastern mtDNA Pool. / Richards, Martin; Macaulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; Cruciani, Fulvio; Kivisild, Toomas; Villems, Richard; Thomas, Mark; Rychkov, Serge; Rychkov, Oksana; Rychkov, Yuri; Gölge, Mukaddes; Dimitrov, Dimitar; Hill, Emmeline; Bradley, Dan; Romano, Valentino; Calì, Francesco; Vona, Giuseppe; Demaine, Andrew; Papiha, Surinder; Triantaphyllidis, Costas; Stefanescu, Gheorghe; Hatina, Jiři; Belledi, Michele; Di Rienzo, Anna; Novelletto, Andrea; Oppenheim, Ariella; Nørby, Søren; Al-Zaheri, Nadia; Santachiara-Benerecetti, Silvana; Scozzari, Rosaria; Torroni, Antonio; Hans-Jürgen, Bandelt.

In: American Journal of Human Genetics, Vol. 67, No. 5, 11.2000, p. 1251-1276.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Tracing European Founder Lineages in the Near Eastern mtDNA Pool

AU - Richards, Martin

AU - Macaulay, Vincent

AU - Hickey, Eileen

AU - Vega, Emilce

AU - Sykes, Bryan

AU - Guida, Valentina

AU - Rengo, Chiara

AU - Sellitto, Daniele

AU - Cruciani, Fulvio

AU - Kivisild, Toomas

AU - Villems, Richard

AU - Thomas, Mark

AU - Rychkov, Serge

AU - Rychkov, Oksana

AU - Rychkov, Yuri

AU - Gölge, Mukaddes

AU - Dimitrov, Dimitar

AU - Hill, Emmeline

AU - Bradley, Dan

AU - Romano, Valentino

AU - Calì, Francesco

AU - Vona, Giuseppe

AU - Demaine, Andrew

AU - Papiha, Surinder

AU - Triantaphyllidis, Costas

AU - Stefanescu, Gheorghe

AU - Hatina, Jiři

AU - Belledi, Michele

AU - Di Rienzo, Anna

AU - Novelletto, Andrea

AU - Oppenheim, Ariella

AU - Nørby, Søren

AU - Al-Zaheri, Nadia

AU - Santachiara-Benerecetti, Silvana

AU - Scozzari, Rosaria

AU - Torroni, Antonio

AU - Hans-Jürgen, Bandelt

PY - 2000/11

Y1 - 2000/11

N2 - 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.

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