Climate and mountains shaped human ancestral genetic lineages

So excited to have contributed to this amazing new preprint!

In this study, we quantified the role of climate and mountains in shaping modern and ancient human genetic diversity.

Genomics shows that contemporary human populations result from the mixing of ancestral groups that are genetically distinct (ancestral genetic lineages) with unknown origins. In theory, ancient DNA could help disentangling their origin, but not in this case because we don’t have enough samples of the right age.

For this reason, we used a different strategy. We explicitly simulated the genetic history of humans in their spread out of Africa testing different values for demographic parameters and physiological responses to the changing climate. By doing so we could see if we can reconstruct the observed genetic diversity (spoiler alert: yes) and which parameters and climate variables shaped it.

For example, we find that aridity is the key factor controlling the timing for the out of Africa and mountains can be huge genetic barriers but only in some areas (e.g. Caucasus and Himalayas, not the Urals).

Thanks to this study, not only we could reconstruct such an important part of our genetic history, but we could also quantify the differential role of climate and topography through space and time in our spread out of Africa.

Preprint

Pierpaolo Maisano Delser, Mario Krapp, Robert Beyer, Eppie R Jones, Eleanor F Miller, Anahit Hovhannisyan, Michelle Parker, Veronika Siska, Maria Teresa Vizzari, Elizabeth J. Pearmain, Ivan Imaz-Rosshandler, Michela Leonardi, Gian Luigi Somma, Jason Hodgson, Eirlys Tysall, Zhe Xue, Lara Cassidy, Daniel G Bradley, Anders Eriksson, Andrea Manica
Climate and mountains shaped human ancestral genetic lineages
bioRxiv 2021.07.13.452067; doi: https://doi.org/10.1101/2021.07.13.452067

Abstract

Extensive sequencing of modern and ancient human genomes has revealed that contemporary populations can be explained as the result of recent mixing of a few distinct ancestral genetic lineages. But the small number of aDNA samples that predate the Last Glacial Maximum means that the origins of these lineages are not well understood. Here, we circumvent the limited sampling by modelling explicitly the effect of climatic changes and terrain on population demography and migrations through time and space, and show that these factors are sufficient to explain the divergence among ancestral lineages. Our reconstructions show that the sharp separation between African and Eurasian lineages is a consequence of only a few limited periods of connectivity through the arid Arabian peninsula, which acted as the gate out of the African continent. The subsequent spread across Eurasia was then mostly shaped by mountain ranges, and to a lesser extent deserts, leading to the split of Europeans and Asians, and the further diversification of these two groups. A high tolerance to cold climates allowed the persistence at high latitudes even during the Last Glacial Maximum, maintaining a pocket in Beringia that led to the later, rapid colonisation of the Americas. The advent of food production was associated with an increase in movement, but mountains and climate have been shown to still play a major role even in this latter period, affecting the mixing of the ancestral lineages that we have shown to be shaped by those two factors in the first place.

The female ancestor’s tale: Long‐term matrilineal continuity in a nonisolated region of Tuscany

Lucca_GEarth
The city of Lucca as seen from satellite. Source: Google Earth.

It just come out in American Journal of Physical Anthropology our new paper (behind paywall) The female ancestor’s tale: Long‐term matrilineal continuity in a nonisolated region of Tuscany, in collaboration with Guido Barbujani, Silvia Ghirotto and Francesca Tassi, in Ferrara, and David Caramelli, Stefania Vai and colleagues in Florence. Open-access link to the PDF (read-only).

North-Western Tuscany (roughly Lucca and Massa Carrara provinces) has always been a corridor of exchange between Central and North-Western Italy. The region was disputed between the Etruscans and Ligurians, it has been then conquered by the Romans, and in the following centuries underwent several changes of rulers.

We tried to define if and when such complex history entailed matrilinear discontinuity in the local population. We did so by analysing a portion of the mitochondrial DNA in 119 samples from the region, dated from the Copper age (around 5,000 years ago) the Roman period, the Renaissance, modern-day and including some Etruscan sequences from the whole of Tuscany.

tuscany

Using computer simulations we found out that the better explanation for the genetic diversity in our samples is that they belong to the same population, in continuity through time. This is a quite surprising result since similar degrees of long-term continuity have been mostly observed in isolated areas.

A possible explanation of those results is that either the historical changes observed in north-western Tuscany (conquers, immigration etc.) mainly lead to foreign males arriving and marrying local females. It is also possible that the rulers from outside (Romans, Lombards, French) and the local population did not mix significantly because they were part of different social groups. Whatever the region may be, modern-day Lucca inhabitants appear to be the direct descendants of the women living in the regions millennia ago, teaching us that genetic continuity can not only be found in isolated communities.

Michela Leonardi, Anna Sandionigi, Annalisa Conzato, Stefania Vai, Martina Lari, Francesca Tassi, Silvia Ghirotto, David Caramelli, Guido Barbujani

The female ancestor’s tale: Long‐term matrilineal continuity in a nonisolated region of Tuscany

Objectives: With the advent of ancient DNA analyses, it has been possible to disentangle the contribution of ancient populations to the genetic pool of the modern inhabitants of many regions. Reconstructing the maternal ancestry has often highlighted genetic continuity over several millennia, but almost always in isolated areas. Here we analyze North‐western Tuscany, a region that was a corridor of exchanges between Central Italy and the Western Mediterranean coast.

Materials and methods: We newly obtained mitochondrial HVRI sequences from 28 individuals, and after gathering published data, we collected genetic information for 119 individuals from the region. Those span five periods during the last 5,000 years: Prehistory, Etruscan age, Roman age, Renaissance, and Present‐day. We used serial coalescent simulations in an approximate Bayesian computation framework to test for continuity between the mentioned groups.

Results: Our analyses always favor continuity over discontinuity for all groups considered, with the Etruscans being part of the genealogy. Moreover, the posterior distributions of the parameters support very small female effective population sizes.

Conclusions: The observed signals of long‐term genetic continuity and isolation are in contrast with the history of the region, conquered several times (Etruscans, Romans, Lombards, and French). While the Etruscans appear as a local population, intermediate between the prehistoric and the other samples, we suggest that the other conquerors—arriving from far—had a consistent social or sex bias, hence only marginally affecting the maternal lineages. At the same time, our results show that long‐term genealogical continuity is not necessarily linked to geographical isolation.

Am J Phys Anthropol2018;110. https://doi.org/10.1002/ajpa.23679 

Read-only pdf