The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs
Vincent Macaulay,Martin B. Richards,Eileen Hickey,Emilce Vega,Fulvio Cruciani,Valentina Guida,Rosaria Scozzari,Batsheva Bonne-Tamir,Bryan Sykes,Antonio Torroni,Antonio Torroni +10 more
TLDR
It is shown that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged approximately 50,000 years ago.Abstract:
Variation in the human mitochondrial genome (mtDNA) is now routinely described and used to infer the histories of peoples, by means of one of two procedures, namely, the assaying of RFLPs throughout the genome and the sequencing of parts of the control region (CR). Using 95 samples from the Near East and northwest Caucasus, we present an analysis based on both systems, demonstrate their concordance, and, using additional available information, present the most refined phylogeny to date of west Eurasian mtDNA. We describe and apply a nomenclature for mtDNA clusters. Hypervariable nucleotides are identified, and the relative mutation rates of the two systems are evaluated. We point out where ambiguities remain. The identification of signature mutations for each cluster leads us to apply a hierarchical scheme for determining the cluster composition of a sample of Berber speakers, previously analyzed only for CR variation. We show that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged ∼50,000 years ago.read more
Citations
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Tracing European founder lineages in the Near Eastern mtDNA pool.
Martin B. Richards,Martin B. Richards,Vincent Macaulay,Eileen Hickey,Emilce Vega,Bryan Sykes,Valentina Guida,Chiara Rengo,Chiara Rengo,Daniele Sellitto,Fulvio Cruciani,Toomas Kivisild,Richard Villems,Mark G. Thomas,Serge Rychkov,Oksana Rychkov,Yuri Rychkov,Mukaddes Gölge,Dimitar Dimitrov,Emmeline W. Hill,Daniel G. Bradley,Valentino Romano,Francesco Calì,Giuseppe Vona,Andrew G. Demaine,Surinder S. Papiha,Costas Triantaphyllidis,Gheorghe Stefanescu,Jiří Hatina,Michele Belledi,Anna Di Rienzo,Andrea Novelletto,Ariella Oppenheim,Søren Nørby,Nadia Al-Zaheri,S. Santachiara-Benerecetti,Rosaria Scozzari,Antonio Torroni,Antonio Torroni,Hans-Jürgen Bandelt +39 more
TL;DR: There has been substantial back-migration into the Near East, there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, and a way to account for multiple dispersals of common sequence types is suggested.
Journal ArticleDOI
Y chromosome sequence variation and the history of human populations
Peter A. Underhill,Peidong Shen,A. A. Lin,Li Jin,Giuseppe Passarino,Wei-Hsien Yang,Kauffman E,Batsheva Bonne-Tamir,Jaume Bertranpetit,Paolo Francalacci,Muntaser E. Ibrahim,Trefor Jenkins,Kidd,S.Q. Mehdi,Mark Seielstad,R. S. Wells,Alberto Piazza,Ronald W. Davis,Marcus W. Feldman,Luigi Luca Cavalli-Sforza,Peter J. Oefner +20 more
TL;DR: Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of the authors' species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history.
Journal ArticleDOI
The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective.
Ornella Semino,Ornella Semino,Giuseppe Passarino,Giuseppe Passarino,Peter J. Oefner,Alice A. Lin,Svetlana Arbuzova,Lars Beckman,Giovanna De Benedictis,Paolo Francalacci,Anastasia Kouvatsi,Svetlana A. Limborska,Mladen Marcikiæ,Anna Mika,Barbara Mika,Dragan Primorac,A. Silvana Santachiara-Benerecetti,Luigi Luca Cavalli-Sforza,Peter A. Underhill +18 more
TL;DR: A significant correlation between the NRY haplotype data and principal components based on 95 protein markers was observed, indicating the effectiveness of NRY binary polymorphisms in the characterization of human population composition and history.
Journal ArticleDOI
The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations
Peter A. Underhill,Giuseppe Passarino,A. A. Lin,Peidong Shen,Marta Mirazón Lahr,Marta Mirazón Lahr,Robert Foley,Peter J. Oefner,Luigi Luca Cavalli-Sforza +8 more
TL;DR: A set of unique event polymorphisms associated with the non‐recombining portion of the Y‐chromosome (NRY) addresses this issue by providing evidence concerning successful migrations originating from Africa, which can be interpreted as subsequent colonizations, differentiations and migrations overlaid upon previous population ranges.
Journal ArticleDOI
The ancestry of Brazilian mtDNA lineages.
Juliana Alves-Silva,Magda S. Santos,Pedro Edson Moreira Guimarães,Alessandro C. S. Ferreira,Hans-Jürgen Bandelt,Sérgio D.J. Pena,Vania F. Prado +6 more
TL;DR: The mtDNA pool of present-day Brazilians clearly reflects the imprints of the early Portuguese colonization process (involving directional mating), as well as the recent immigrant waves (from Europe) of the last century.
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