Author
Rui Martiniano
Other affiliations: University of Coimbra, Liverpool John Moores University, Wellcome Trust Sanger Institute ...read more
Bio: Rui Martiniano is an academic researcher from University of Cambridge. The author has contributed to research in topics: Population & Bronze Age. The author has an hindex of 18, co-authored 33 publications receiving 1881 citations. Previous affiliations of Rui Martiniano include University of Coimbra & Liverpool John Moores University.
Topics: Population, Bronze Age, Mesolithic, Ancient DNA, Reference genome
Papers
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University of Mainz1, University College London2, Swiss Institute of Bioinformatics3, University of Fribourg4, Trinity College, Dublin5, Aristotle University of Thessaloniki6, University of Sheffield7, Hellenic Ministry of Culture and Sports8, Democritus University of Thrace9, Stony Brook University10, Ege University11, Austrian Academy of Sciences12, University of Geneva13
TL;DR: This study demonstrates a direct genetic link between Mediterranean and Central European early farmers and those of Greece and Anatolia, extending the European Neolithic migratory chain all the way back to southwestern Asia.
Abstract: Farming and sedentism first appeared in southwestern Asia during the early Holocene and later spread to neighboring regions, including Europe, along multiple dispersal routes. Conspicuous uncertainties remain about the relative roles of migration, cultural diffusion, and admixture with local foragers in the early Neolithization of Europe. Here we present paleogenomic data for five Neolithic individuals from northern Greece and northwestern Turkey spanning the time and region of the earliest spread of farming into Europe. We use a novel approach to recalibrate raw reads and call genotypes from ancient DNA and observe striking genetic similarity both among Aegean early farmers and with those from across Europe. Our study demonstrates a direct genetic link between Mediterranean and Central European early farmers and those of Greece and Anatolia, extending the European Neolithic migratory chain all the way back to southwestern Asia.
377 citations
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Trinity College, Dublin1, University of Potsdam2, University of Ferrara3, University College Dublin4, University of Cambridge5, King Abdullah University of Science and Technology6, University of Copenhagen7, Georgian National Museum8, Harvard University9, Hebrew University of Jerusalem10, University of Oxford11, University of Geneva12
TL;DR: It is found that Caucasus hunter-gatherers (CHG) belong to a distinct ancient clade that split from western hunter- Gatherers ∼45 kya, shortly after the expansion of anatomically modern humans into Europe and from the ancestors of Neolithic farmers ∼25 KYa, around the Last Glacial Maximum.
Abstract: We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus and a Late Upper Palaeolithic (13,700 years old, 9.5-fold) male from Switzerland. While we detect Late Palaeolithic–Mesolithic genomic continuity in both regions, we find that Caucasus hunter-gatherers (CHG) belong to a distinct ancient clade that split from western hunter-gatherers ∼45 kya, shortly after the expansion of anatomically modern humans into Europe and from the ancestors of Neolithic farmers ∼25 kya, around the Last Glacial Maximum. CHG genomes significantly contributed to the Yamnaya steppe herders who migrated into Europe ∼3,000 BC, supporting a formative Caucasus influence on this important Early Bronze age culture. CHG left their imprint on modern populations from the Caucasus and also central and south Asia possibly marking the arrival of Indo-Aryan languages.
343 citations
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University of Copenhagen1, University of Cambridge2, Wellcome Trust Sanger Institute3, Leiden University4, Harvard University5, Technical University of Denmark6, Al-Farabi University7, University of Chicago8, Karagandy State University9, University of Alaska Fairbanks10, Istanbul University11, Hazara University12, University of Gothenburg13, Russian Academy of Sciences14, Gazi University15, Islamia College University16, University of Exeter17, Government of Khyber Pakhtunkhwa18, Irkutsk State University19, University of Alberta20, Paul Sabatier University21, University of California, Berkeley22
TL;DR: Analysis of ancient whole-genome sequences from across Inner Asia and Anatolia shows that the Botai people associated with the earliest horse husbandry derived from a hunter-gatherer population deeply diverged from the Yamnaya, and suggests distinct migrations bringing West Eurasian ancestry into South Asia before and after, but not at the time of, YamNaya culture.
Abstract: The Yamnaya expansions from the western steppe into Europe and Asia during the Early Bronze Age (~3000 BCE) are believed to have brought with them Indo-European languages and possibly horse husbandry. We analyze 74 ancient whole-genome sequences from across Inner Asia and Anatolia and show that the Botai people associated with the earliest horse husbandry derived from a hunter-gatherer population deeply diverged from the Yamnaya. Our results also suggest distinct migrations bringing West Eurasian ancestry into South Asia before and after but not at the time of Yamnaya culture. We find no evidence of steppe ancestry in Bronze Age Anatolia from when Indo-European languages are attested there. Thus, in contrast to Europe, Early Bronze Age Yamnaya-related migrations had limited direct genetic impact in Asia.
273 citations
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University of Mainz1, University College London2, Swiss Institute of Bioinformatics3, University of Fribourg4, Trinity College, Dublin5, Swedish Museum of Natural History6, Pasteur Institute7, University of York8, Stony Brook University9, Tarbiat Modares University10, University of Geneva11, University of California, Irvine12, Centre national de la recherche scientifique13
TL;DR: It is concluded that multiple, genetically differentiated hunter-gatherer populations adopted farming in southwestern Asia, that components of pre-Neolithic population structure were preserved as farming spread into neighboring regions, and that the Zagros region was the cradle of eastward expansion.
Abstract: We sequenced Early Neolithic genomes from the Zagros region of Iran (eastern Fertile Crescent), where some of the earliest evidence for farming is found, and identify a previously uncharacterized population that is neither ancestral to the first European farmers nor has contributed substantially to the ancestry of modern Europeans. These people are estimated to have separated from Early Neolithic farmers in Anatolia some 46,000 to 77,000 years ago and show affinities to modern-day Pakistani and Afghan populations, but particularly to Iranian Zoroastrians. We conclude that multiple, genetically differentiated hunter-gatherer populations adopted farming in southwestern Asia, that components of pre-Neolithic population structure were preserved as farming spread into neighboring regions, and that the Zagros region was the cradle of eastward expansion.
235 citations
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University of Copenhagen1, Russian Academy of Sciences2, University of Bern3, University of Lisbon4, Swiss Institute of Bioinformatics5, Technical University of Denmark6, University of Chicago7, Chinese Academy of Sciences8, Leiden University9, Arctic and Antarctic Research Institute10, University of Cambridge11, University of Greenland12, American Museum of Natural History13, National Institutes of Health14, University of Helsinki15, University of Illinois at Urbana–Champaign16, University of Gothenburg17, University of Turku18, Wellcome Trust Sanger Institute19, University of California, Berkeley20, Southern Methodist University21
TL;DR: Analysis of 34 newly recovered ancient genomes from northeastern Siberia reveal at least three major migration events in the late Pleistocene population history of the region, including an initial peopling by a previously unknown Palaeolithic population of ‘Ancient North Siberians’ and a Holocene migration of other East Asian-related peoples, which generated the mosaic genetic make-up of contemporary peoples.
Abstract: Northeastern Siberia has been inhabited by humans for more than 40,000 years but its deep population history remains poorly understood. Here we investigate the late Pleistocene population history of northeastern Siberia through analyses of 34 newly recovered ancient genomes that date to between 31,000 and 600 years ago. We document complex population dynamics during this period, including at least three major migration events: an initial peopling by a previously unknown Palaeolithic population of ‘Ancient North Siberians’ who are distantly related to early West Eurasian hunter-gatherers; the arrival of East Asian-related peoples, which gave rise to ‘Ancient Palaeo-Siberians’ who are closely related to contemporary communities from far-northeastern Siberia (such as the Koryaks), as well as Native Americans; and a Holocene migration of other East Asian-related peoples, who we name ‘Neo-Siberians’, and from whom many contemporary Siberians are descended. Each of these population expansions largely replaced the earlier inhabitants, and ultimately generated the mosaic genetic make-up of contemporary peoples who inhabit a vast area across northern Eurasia and the Americas. Analyses of 34 ancient genomes from northeastern Siberia, dating to between 31,000 and 600 years ago, reveal at least three major migration events in the late Pleistocene population history of the region.
211 citations
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01 Jan 2011
TL;DR: The sheer volume and scope of data posed by this flood of data pose a significant challenge to the development of efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
Abstract: Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single nucleotide polymorphism (SNP) and copy number profiling, and functional assays. Analysis of these large, diverse data sets holds the promise of a more comprehensive understanding of the genome and its relation to human disease. Experienced and knowledgeable human review is an essential component of this process, complementing computational approaches. This calls for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data. However, the sheer volume and scope of data pose a significant challenge to the development of such tools.
2,187 citations
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Max Planck Society1, University of Tübingen2, Harvard University3, Howard Hughes Medical Institute4, Broad Institute5, University College Dublin6, University of Coimbra7, University of Adelaide8, Russian Academy of Sciences9, Altai State University10, University of Pisa11, University of Bari12, University of Cantabria13, University of New Mexico14, Austrian Academy of Sciences15, Naturhistorisches Museum16, University of Vienna17, University of Ferrara18, University of Florence19, University of Siena20, Centre national de la recherche scientifique21, University of Bucharest22, California State University, Northridge23, University of Bordeaux24, University of Toulouse25, Royal Belgian Institute of Natural Sciences26, Masaryk University27, Academy of Sciences of the Czech Republic28
TL;DR: In this article, the authors analyse genome-wide data from 51 Eurasians from ~45,000-7,000 years ago and find that the proportion of Neanderthal DNA decreased from 3-6% to around 2%, consistent with natural selection against Neanderthal variants in modern humans.
Abstract: Modern humans arrived in Europe ~45,000 years ago, but little is known about their genetic composition before the start of farming ~8,500 years ago. Here we analyse genome-wide data from 51 Eurasians from ~45,000-7,000 years ago. Over this time, the proportion of Neanderthal DNA decreased from 3-6% to around 2%, consistent with natural selection against Neanderthal variants in modern humans. Whereas there is no evidence of the earliest modern humans in Europe contributing to the genetic composition of present-day Europeans, all individuals between ~37,000 and ~14,000 years ago descended from a single founder population which forms part of the ancestry of present-day Europeans. An ~35,000-year-old individual from northwest Europe represents an early branch of this founder population which was then displaced across a broad region, before reappearing in southwest Europe at the height of the last Ice Age ~19,000 years ago. During the major warming period after ~14,000 years ago, a genetic component related to present-day Near Easterners became widespread in Europe. These results document how population turnover and migration have been recurring themes of European prehistory.
702 citations
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Broad Institute1, Whitman College2, Simon Fraser University3, Howard Hughes Medical Institute4, University College Dublin5, University of Coimbra6, Emory University7, Chinese Academy of Sciences8, University of Ferrara9, University of Miskolc10, Armenian National Academy of Sciences11, University of Pennsylvania12, University of Winnipeg13, Alexandru Ioan Cuza University14, University of Edinburgh15, Royal College of Surgeons in Ireland16, Spanish National Research Council17, Imperial College London18, Max Planck Society19, Binghamton University20, University of Huddersfield21, University of Pavia22, Yerevan State University23
TL;DR: This paper reported genome-wide ancient DNA from 44 ancient Near Easterners ranging in time between ~12,000 and 1,400 bc, from Natufian hunter-gatherers to Bronze Age farmers, showing that the earliest populations of the Near East derived around half their ancestry from a 'Basal Eurasian' lineage that had little if any Neanderthal admixture and that separated from other non-African lineages before their separation from each other.
Abstract: We report genome-wide ancient DNA from 44 ancient Near Easterners ranging in time between ~12,000 and 1,400 bc, from Natufian hunter–gatherers to Bronze Age farmers. We show that the earliest populations of the Near East derived around half their ancestry from a ‘Basal Eurasian’ lineage that had little if any Neanderthal admixture and that separated from other non-African lineages before their separation from each other. The first farmers of the southern Levant (Israel and Jordan) and Zagros Mountains (Iran) were strongly genetically differentiated, and each descended from local hunter–gatherers. By the time of the Bronze Age, these two populations and Anatolian-related farmers had mixed with each other and with the hunter–gatherers of Europe to greatly reduce genetic differentiation. The impact of the Near Eastern farmers extended beyond the Near East: farmers related to those of Anatolia spread westward into Europe; farmers related to those of the Levant spread southward into East Africa; farmers related to those of Iran spread northward into the Eurasian steppe; and people related to both the early farmers of Iran and to the pastoralists of the Eurasian steppe spread eastward into South Asia.
695 citations
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TL;DR: Genome-wide data from 400 Neolithic, Copper Age and Bronze Age Europeans is presented, finding limited genetic affinity between Beaker-complex-associated individuals from Iberia and central Europe, and excludes migration as an important mechanism of spread between these two regions.
Abstract: From around 2750 to 2500 bc, Bell Beaker pottery became widespread across western and central Europe, before it disappeared between 2200 and 1800 bc. The forces that propelled its expansion are a matter of long-standing debate, and there is support for both cultural diffusion and migration having a role in this process. Here we present genome-wide data from 400 Neolithic, Copper Age and Bronze Age Europeans, including 226 individuals associated with Beaker-complex artefacts. We detected limited genetic affinity between Beaker-complex-associated individuals from Iberia and central Europe, and thus exclude migration as an important mechanism of spread between these two regions. However, migration had a key role in the further dissemination of the Beaker complex. We document this phenomenon most clearly in Britain, where the spread of the Beaker complex introduced high levels of steppe-related ancestry and was associated with the replacement of approximately 90% of Britain's gene pool within a few hundred years, continuing the east-to-west expansion that had brought steppe-related ancestry into central and northern Europe over the previous centuries.
479 citations
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TL;DR: The discovery of interbreeding between anatomically modern humans and extinct hominins and the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide are among the breakthroughs.
Abstract: Advances in the sequencing and the analysis of the genomes of both modern and ancient peoples have facilitated a number of breakthroughs in our understanding of human evolutionary history. These include the discovery of interbreeding between anatomically modern humans and extinct hominins; the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide; and the characterization of many of the genetic adaptions of humans to local environmental conditions. Our interpretation of the evolutionary history and adaptation of humans is being transformed by analyses of these new genomic data.
467 citations