Neolithic demic diffusion

In 1978, Paolo Menozzi, Alberto Piazza, and Luca Cavalli-Sforza paved the ground for a new multidisciplinary approach to the study of human prehistory, interpreting genetic evidence in the light of archaeological information. By producing synthetic maps of allele frequencies and summarizing them by principal component analysis (PCA), they identified an association between patterns in genetic diversity across Europe and in the Neolithic archaeological record showing the earliest documented dates of farming societies. Based on this observation, they proposed a model of demic diffusion from the Near East. They argued that the observed patterns were the result of population growth due to increased food availability in early farming communities, westward dispersal of early farmers, and relative isolation between dispersing farmers and local hunter-gatherers. These results played a major role in our understanding of the Neolithic transition, but were also criticized on methodological grounds. For instance, it has become increasingly clear that the interpretation of PCA plots is less straightforward than originally thought, and correlations should be corroborated by explicit comparison of alternative demographic models. Despite these valid criticisms, genetic and genomic studies, including those involving ancient DNA, have largely confirmed the crucial role of the Neolithic transition as a process of demographic change in European prehistory, with some qualifications. Today, there is still much to be learned about the details of that complex history, but many researchers regard the European population structure as largely reflecting the genetic consequences of three major migrations: from Africa in Upper Paleolithic times, from the Near East at the beginning of the Neolithic, and from the eastern steppes in the Bronze Age. This deep structure has not been erased, despite many additional processes involving historical migrations, isolation (i.e., drift) and local gene flow, and has been recognized thanks to the pioneering work of Menozzi, Piazza and Cavalli-Sforza

Diversidad genética, entre y dentro de los mayores grupos humanos

Varios estudios están de acuerdo cuando reportan que cerca del 85% de la diversidad del ADN autosomal y de los loci de las proteínas se debe a diferencias entre individuos dentro de la misma población, mientras que las diferencias entre los grupos de diferentes continentes son responsables de solamente 10% de la variación genética total. Estos resultados están en conflicto con nociones populares de razas humanas claramente distintas y relativamente homogéneas, y nos hacen cuestionar la utilidad de clasificaciones étnicas en diagnósticos médicos, en el campo forense y en genética farmacológica. Nuevos datos obtenidos de inserciones polimórficas de Alu y del cromosoma Y confirman los resultados previos, aunque indican una diversidad mayor en algunos (pero no todos) los loci del cromosoma Y. Estos datos nos permiten investigar dos preguntas: (1) si las diferencias continentales, aunque pequeñas, son suficientemente grandes como para asignar a individuos a sus continentes basados en sus genotipos; (2) si los genotipos observados se agrupan en grupos de población o continentales cuando el origen de la muestra se ignora. Usando varios métodos estadísticos, veremos que los errores de clasificación son por lo menos de un 30% para los polimorfismos autosomales bi-alélicos, y de un 27% para el cromosoma Y. Cuatro series de datos genéticos de todo el mundo sugieren la existencia de grupos de genotipos diferentes, pero que éstos cuatro grupos no coinciden el uno con el otro. Adicionalmente, estudios de bloques de ADN del genoma humano indican que la mayor parte de dichos bloques es compartida entre los continentes, con solamente un pequeño porcentaje siendo específico a ciertos continentes. Estos resultados no indican que haya una base clara para subdividir a los humanos en grupos biológicamente definidos. Este puede no ser un problema en áreas aplicadas de genéticas, dado que los métodos rápidos para obtener genotipos individuales posiblemente permita el obtener métodos diagnósticos individuales, y no basados en la raza.Asociación de Antropología Biológica de la República Argentin

Diversidad genética, entre y dentro de los mayores grupos humanos

Varios estudios están de acuerdo cuando reportan que cerca del 85% de la diversidad del ADN autosomal y de los loci de las proteínas se debe a diferencias entre individuos dentro de la misma población, mientras que las diferencias entre los grupos de diferentes continentes son responsables de solamente 10% de la variación genética total. Estos resultados están en conflicto con nociones populares de razas humanas claramente distintas y relativamente homogéneas, y nos hacen cuestionar la utilidad de clasificaciones étnicas en diagnósticos médicos, en el campo forense y en genética farmacológica. Nuevos datos obtenidos de inserciones polimórficas de Alu y del cromosoma Y confirman los resultados previos, aunque indican una diversidad mayor en algunos (pero no todos) los loci del cromosoma Y. Estos datos nos permiten investigar dos preguntas: (1) si las diferencias continentales, aunque pequeñas, son suficientemente grandes como para asignar a individuos a sus continentes basados en sus genotipos; (2) si los genotipos observados se agrupan en grupos de población o continentales cuando el origen de la muestra se ignora. Usando varios métodos estadísticos, veremos que los errores de clasificación son por lo menos de un 30% para los polimorfismos autosomales bi-alélicos, y de un 27% para el cromosoma Y. Cuatro series de datos genéticos de todo el mundo sugieren la existencia de grupos de genotipos diferentes, pero que éstos cuatro grupos no coinciden el uno con el otro. Adicionalmente, estudios de bloques de ADN del genoma humano indican que la mayor parte de dichos bloques es compartida entre los continentes, con solamente un pequeño porcentaje siendo específico a ciertos continentes. Estos resultados no indican que haya una base clara para subdividir a los humanos en grupos biológicamente definidos. Este puede no ser un problema en áreas aplicadas de genéticas, dado que los métodos rápidos para obtener genotipos individuales posiblemente permita el obtener métodos diagnósticos individuales, y no basados en la raza.Asociación de Antropología Biológica de la República Argentin

An earlier revolution: genetic and genomic analyses reveal pre-existing cultural differences leading to Neolithization

Archaeological evidence shows that, in the long run, Neolitization (the transition from foraging to food production) was associated with demographic growth. We used two methods (patterns of linkage disequilibrium from whole-genome SNPs and MSMC estimates on genomes) to reconstruct the demographic profiles for respectively 64 and 24 modern-day populations with contrasting lifestyles across the Old World (sub-Saharan Africa, south-eastern Asia, Siberia). Surprisingly, in all regions, food producers had larger effective population sizes ($N_e$) than foragers already 20k years ago, well before the Neolithic revolution. As expected, this difference further increased ~12–10k years ago, around or just before the onset of food production. Using paleoclimate reconstructions, we show that the early difference in $N_e$ cannot be explained by food producers inhabiting more favorable regions. A number of mechanisms, including ancestral differences in census size, sedentism, exploitation of the natural resources, social stratification or connectivity between groups, might have led to the early differences in Ne detected in our analyses. Irrespective of the specific mechanisms involved, our results provide further evidence that long term cultural differences among populations of Palaeolithic hunter-gatherers are likely to have played an important role in the later Neolithization process.This work was supported by the European Research Council ERC-2011-AdG_295733 grant (LanGeLin) to GB and ERC Consolidator Grant 647787 ‘LocalAdaptation’ to AM. ML has been awarded with the SIBE (Società Italiana di Biologia Evolutiva) “Doctor Darwin prize” for this research

Complete mitochondrial sequences from Mesolithic Sardinia

Little is known about the genetic prehistory of Sardinia because of the scarcity of pre-Neolithic human remains. From a genetic perspective, modern Sardinians are known as genetic outliers in Europe, showing unusually high levels of internal diversity and a close relationship to early European Neolithic farmers. However, how far this peculiar genetic structure extends and how it originated was to date impossible to test. Here we present the first and oldest complete mitochondrial sequences from Sardinia, dated back to 10,000 yBP. These two individuals, while confirming a Mesolithic occupation of the island, belong to rare mtDNA lineages, which have never been found before in Mesolithic samples and that are currently present at low frequencies not only in Sardinia, but in the whole Europe. Preliminary Approximate Bayesian Computations, restricted by biased reference samples for Mesolithic Sardinia (the two typed samples) and Neolithic Europe (limited to central and north European sequences), suggest that the first inhabitants of the island have had a small or negligible contribution to the present-day Sardinian population, which mainly derives its genetic diversity from continental migration into the island by Neolithic times

Genetic variation in prehistoric Sardinia

We sampled teeth from 53 ancient Sardinian (Nuragic) individuals who lived in the Late Bronze Age and Iron Age, between 3,430 and 2,700 years ago. After eliminating the samples that, in preliminary biochemical tests, did not show a high probability to yield reproducible results, we obtained 23 sequences of the mitochondrial DNA control region, which were associated to haplogroups by comparison with a dataset of modern sequences. The Nuragic samples show a remarkably low genetic diversity, comparable to that observed in ancient Iberians, but much lower than among the Etruscans. Most of these sequences have exact matches in two modern Sardinian populations, supporting a clear genealogical continuity from the Late Bronze Age up to current times. The Nuragic populations appear to be part of a large and geographically unstructured cluster of modern European populations, thus making it difficult to infer their evolutionary relationships. However, the low levels of genetic diversity, both within and among ancient samples, as opposed to the sharp differences among modern Sardinian samples, support the hypothesis of the expansion of a small group of maternally related individuals, and of comparatively recent differentiation of the Sardinian gene pools. © Springer-Verlag 2007

Determinants of echolocation call frequency variation in the Formosan lesser horseshoe bat (Rhinolophus monoceros)

The origin and maintenance of intraspecific variation in vocal signals is important for population divergence and speciation. Where vocalizations are transmitted by vertical cultural inheritance, similarity will reflect co-ancestry, and thus vocal divergence should reflect genetic structure. Horseshoe bats are characterized by echolocation calls dominated by a constant frequency component that is partly determined by maternal imprinting. Although previous studies showed that constant frequency calls are also influenced by some non-genetic factors, it is not known how frequency relates to genetic structure. To test this, we related constant frequency variation to genetic and non-genetic variables in the Formosan lesser horseshoe bat (Rhinolophus monoceros). Recordings of bats from across Taiwan revealed that females called at higher frequencies than males; however, we found no effect of environmental or morphological factors on call frequency. By comparison, variation showed clear population structure, with frequencies lower in the centre and east, and higher in the north and south. Within these regions, frequency divergence was directional and correlated with geographical distance, suggesting that call frequencies are subject to cultural drift. However, microsatellite clustering analysis showed that broad differences in constant frequency among populations corresponded to discontinuities in allele frequencies resulting from vicariant events. Our results provide evidence that the processes shaping genetic subdivision have concomitant consequences for divergence in echolocation call frequency

Human origins in Southern African palaeo-wetlands? Strong claims from weak evidence

Attempts to identify a ‘homeland’ for our species from genetic data are widespread in the academic literature. However, even when putting aside the question of whether a ‘homeland’ is a useful concept, there are a number of inferential pitfalls in attempting to identify the geographic origin of a species from contemporary patterns of genetic variation. These include making strong claims from weakly informative data, treating genetic lineages as representative of populations, assuming a high degree of regional population continuity over hundreds of thousands of years, and using circumstantial observations as corroborating evidence without considering alternative hypotheses on an equal footing, or formally evaluating any hypothesis. In this commentary we review the recent publication that claims to pinpoint the origins of ‘modern humans’ to a very specific region in Africa (Chan et al., 2019), demonstrate how it fell into these inferential pitfalls, and discuss how this can be avoided

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

Tn this work we focus on a microsatellite-defined Y-chromosomal lineage (network 1.2) identified by us and reported in previous studies, whose geographic distribution and antiquity appear to be compatible with the Neolithic spread of farmers. Here, we set network 1.2 in the Y-chromosomal phylogenetic tree, date it with respect to other lineages associated with the same movements by other authors, examine its diversity by means of tri- and tetranucleotide loci and discuss the implications hi reconstructing the spread of this group of chromosomes in the Mediterranean area. Our results define a tripartite phylogeny wit-bin HG 9 (Rosser et al. 2000) with the deepest branching defined by alleles T (Haplogroup Eu 10) or G (Haplogroup Eu9) at M172 (Semino et al. 2000), and a subsequent branching within Eu9 defined by network 1.2. Population distributions of HG 9 and network 1.2 show that their occurrence in the surveyed area is not due to the spread of people from a single parental population but, rather, to a process punctuated by at least two phases. Our data identify the wide area of the Balkans, Aegean and Anatolia as the possible homeland harbouring the largest variation within network 1.2. The use of recently proposed tests based on the stepwise mutation model suggests that its spread was associated to a population expansion, xvith a high rate of male gene flow in the Turkish Greek area