Project Detail
"Genetic and chronological characterisation of the European settlement by modern humans in the Upper Palaeolithic"
Luísa Pereira (PI), Haidé Martins, Joana Barbosa Pereira, João Zilhão, Marisa Oliveira, Marta Costa, Pedro Soares, Teresa Rito, Verónica Fernandes
Dates and Lifetime
From: 2011-03-01 To: 2014-06-30
Duration: 40 months


Results obtained:

1- Early Upper Palaeolithic settlement of Europe by modern humans: we performed a robust phylogeographic analysis of the mitochondrial DNA (mtDNA) haplogroup U, one of the most important Eurasian Palaeolithic lineages. The Early Upper Palaeolithic settlement of Europe can be traced back to Southwest Asia, where either the emergence or the initial diversification of mtDNA haplogroup U took place. The first movement of modern humans into Europe most probably occurred during the warmer period of 44-46 ka, carrying pre-U5 and U8 diversity. The most parsimonious route of migration for modern humans in the Upper Palaeolithic is the western one, along the Bosphorous Strait or through the Caucasus.

2- Haplogroup U8/K and the origin of Ashkenazi Jew lineages: one of the U lineages (U8/K) is highly frequent in the Ashkenazi Jew community. We showed that all four major founders, around 40% of Ashkenazi mtDNA variation, have ancestry in prehistoric Europe, rather than the Near East or Caucasus. These results point to a significant role for the conversion of women in the formation of Ashkenazi communities, and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history.

3- After the settlement of Europe: expansions of local lineages and arrival of new immigrants: current European pool is still dominated by the population contraction into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia. Parts of the Near East, such as the Levant, were also continuously inhabited throughout the Last Glacial Maximum and we proved that it was also a refugia for mtDNA diversity.

4- Where did the first European settlers come from?: we knew that the Near East was the origin of the immigrants, but we wanted to clarify how these people were related in time and space with the out-of-Africa migration that led to the colonisation of the entire globe. We showed that the Gulf Oasis region was the place where the emigrants from Africa gave rise to the descendents whom spread from there towards the Near East and Europe during the pluvial period 55–24 ka ago.

5- Investigating the origins of not only the first Europeans... but also the first modern humans: nuclear data were questioning the accepted mtDNA and archaeology-based hypothesis of modern human origin in East Africa. We propose that the last common ancestor of modern human mtDNAs possibly arose in central Africa ~180 ka, at a time of low population size.

6- The European population expansions and pathogenic mutations: our European high-quality phylogenetic resolution for mtDNA confirmed without doubt that the first main population expansions in this continent took place in the post-glacial/Younger Dryas, while in Africa and Asia they are more recent, in middle Holocene. As expected, most of the predicted pathogenic variants in the nuclear DNA genes were restricted to a single continental population. But surprisingly, the proportion of individuals having at least one potential pathogenic mutation in this nuclear gene set was significantly lower in Europeans than in Africans and Asians, which mirrors the demographic asymmetries between continents.





Este trabalho é financiado por Fundos FEDER através do Programa Operacional Factores de Competitividade – COMPETE (FCOMP-01-0124-FEDER-014445) e por Fundos Nacionais através da FCT – Fundação para a Ciência e a Tecnologia no âmbito do projeto PTDC/CS-ANT/113832/2009.



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