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      Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes

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          Abstract

          With analyses of entire mitogenomes, studies of Native American mitochondrial DNA (mtDNA) variation have entered the final phase of phylogenetic refinement: the dissection of the founding haplogroups into clades that arose in America during and after human arrival and spread. Ages and geographic distributions of these clades could provide novel clues on the colonization processes of the different regions of the double continent. As for the Southern Cone of South America, this approach has recently allowed the identification of two local clades (D1g and D1j) whose age estimates agree with the dating of the earliest archaeological sites in South America, indicating that Paleo-Indians might have reached that region from Beringia in less than 2000 years. In this study, we sequenced 46 mitogenomes belonging to two additional clades, termed B2i2 (former B2l) and C1b13, which were recently identified on the basis of mtDNA control-region data and whose geographical distributions appear to be restricted to Chile and Argentina. We confirm that their mutational motifs most likely arose in the Southern Cone region. However, the age estimate for B2i2 and C1b13 (11–13,000 years) appears to be younger than those of other local clades. The difference could reflect the different evolutionary origins of the distinct South American-specific sub-haplogroups, with some being already present, at different times and locations, at the very front of the expansion wave in South America, and others originating later in situ, when the tribalization process had already begun. A delayed origin of a few thousand years in one of the locally derived populations, possibly in the central part of Chile, would have limited the geographical and ethnic diffusion of B2i2 and explain the present-day occurrence that appears to be mainly confined to the Tehuelche and Araucanian-speaking groups.

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          The late Pleistocene dispersal of modern humans in the Americas.

          When did humans colonize the Americas? From where did they come and what routes did they take? These questions have gripped scientists for decades, but until recently answers have proven difficult to find. Current genetic evidence implies dispersal from a single Siberian population toward the Bering Land Bridge no earlier than about 30,000 years ago (and possibly after 22,000 years ago), then migration from Beringia to the Americas sometime after 16,500 years ago. The archaeological records of Siberia and Beringia generally support these findings, as do archaeological sites in North and South America dating to as early as 15,000 years ago. If this is the time of colonization, geological data from western Canada suggest that humans dispersed along the recently deglaciated Pacific coastline.
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            Effects of purifying and adaptive selection on regional variation in human mtDNA.

            A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.
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              A "Copernican" reassessment of the human mitochondrial DNA tree from its root.

              Mutational events along the human mtDNA phylogeny are traditionally identified relative to the revised Cambridge Reference Sequence, a contemporary European sequence published in 1981. This historical choice is a continuous source of inconsistencies, misinterpretations, and errors in medical, forensic, and population genetic studies. Here, after having refined the human mtDNA phylogeny to an unprecedented level by adding information from 8,216 modern mitogenomes, we propose switching the reference to a Reconstructed Sapiens Reference Sequence, which was identified by considering all available mitogenomes from Homo neanderthalensis. This "Copernican" reassessment of the human mtDNA tree from its deepest root should resolve previous problems and will have a substantial practical and educational influence on the scientific and public perception of human evolution by clarifying the core principles of common ancestry for extant descendants. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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                Author and article information

                Contributors
                Role: Editor
                Journal
                PLoS One
                PLoS ONE
                plos
                plosone
                PLoS ONE
                Public Library of Science (San Francisco, USA )
                1932-6203
                2012
                11 December 2012
                : 7
                : 12
                : e51311
                Affiliations
                [1 ]Instituto de Ecología y Biodiversidad, Departamento de Ecología, Facultad de Ciencias, Universidad de Chile, Ñuñoa, Santiago, Chile
                [2 ]Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Independencia, Santiago, Chile
                [3 ]Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy
                [4 ]Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah, United States of America
                [5 ]Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
                [6 ]Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
                [7 ]Servicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina
                [8 ]AncestryDNA, Provo, Utah, United States of America
                [9 ]Eberly College of Science, Penn State University, University Park, Pennsylvania, United States of America
                [10 ]Departamento de Antropología, Facultad de Ciencias Sociales, Universidad de Chile, Ñuñoa, Santiago, Chile
                [11 ]Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, Perugia, Italy
                Democritus University of Thrace, Greece
                Author notes

                Competing Interests: The authors have declared that no competing interests exist.

                Conceived and designed the experiments: AT AO MdSP MM AS WP. Performed the experiments: MdSP FG MB AGC DC NA. Analyzed the data: MdSP FG UAP MB AGC DC AA AO. Contributed reagents/materials/analysis tools: AT OS NA SRW AS WP MM. Wrote the paper: MdSP UAP SRW OS AS WP AA AT AO.

                Article
                PONE-D-12-20998
                10.1371/journal.pone.0051311
                3519775
                23240014
                a7e04e8a-0184-471d-8be1-1ae4fe705828
                Copyright @ 2012

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 12 July 2012
                : 31 October 2012
                Page count
                Pages: 9
                Funding
                This research received support from the Fondazione Alma Mater Ticinensis (to AT and OS), the Sorenson Molecular Genealogy Foundation (to UAP and SRW), the Ministerio de Ciencia e Innovacion grant SAF2011-26983 (to AS), the Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2009 (to AA, OS and AT) and FIRB-Futuro in Ricerca (Italian Ministry of the University) (to AA and AO). MSP was supported by a doctoral fellowship from CONICYT and an intern scholarship from the MECESUP UCH 0803 project. WP was supported by the Austrian Science Fund (FWF): P22880-B12. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
                Categories
                Research Article
                Biology
                Biochemistry
                Nucleic Acids
                DNA
                Evolutionary Biology
                Evolutionary Genetics
                Genetics
                Population Genetics
                Gene Flow
                Genetic Drift
                Genetic Polymorphism
                Haplotypes
                Human Genetics
                Molecular Genetics
                Genomics
                Genome Sequencing
                Social and Behavioral Sciences
                Archaeology

                Uncategorized
                Uncategorized

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