Open Access and Open Data

In 2014, the Istituto Italiano di Antropologia launched the Oasis (Open Access Institutes) initiative, based on a set of integrated actions aimed at developing and implementing an Open Science approach to all its activities.

Open access to research products is an essential part of scientific production processes, increasingly perceived as an important factor having a decisive impact on scientific progress. In this context, in 2018 the accessibility of human biological materials stored in research biobanks has been analyzed. This study took into account the relationships between biobanking and political-economic choices, and the possibility of increased sharing of biological samples on a worldwide scale, through biobank networks (Capocasa et al 2018).

In 2019, an investigation was conducted regarding the barriers between science and society and the possibility of their overcoming by the scientific community. This study focused on the involvement of scientists and citizens in several forms of sharing, not only in the scientific but also in the social sphere, as an example of extended democratic processes. Particular attention was paid to the role of technology and the World Wide Web (Capocasa and Rufo 2019).

In the period between 2020-2021, a survey on open access to scientific articles concerning Covid-19 published in the first six months after the identification of its etiological agent was developed. In this research, a protocol based on post-print was also defined, aimed at increasing accessibility to scientific papers (Destro Bisol et al 2020; Capocasa et al 2020, 2021). In the same period, an analysis of genomic data sharing in biomedicine was finally completed, including a comparison with the results obtained from the evaluation of the data-sharing rates in molecular anthropology (Anagnostou et al 2021).

Ethno-linguistic study of southern Tunisia

Tunisia can be considered as a crossroad among sub-Saharan Africa, Mediterranean Europe and the Middle East. Therefore, this territory represents an important context for the study of the effects of cultural changes on the genetic structure of human populations. During the Arab expansion in North Africa, local Berber communities adopted the Islamic religion and, in most cases, also the Arabic language. The sub-Saharan slave trade and the isolation of several Berber communities forced to emigrate to southern Tunisia, together with their mixing at various levels with the Arab newcomers, contributed to shaping the genetic diversity of the populations settled in this territory.

The analysis of around one million autosomal biallelic markers showed a clear distinction between Berber and Arab populations, in contrast to what was observed in previous studies based on unilinear markers (Anagnostou et al 2020). Identification and dating of admixture events made it possible to reconstruct the dynamics underlying this diversity. The first traces of the introgression of Arab lineages in the Berber populations have been found in the community of Matmata, dating back to the mid-eleventh century, consistently with the well-documented Hilalian invasion conducted by Bedouin tribes originating from the Arabian peninsula. A series of migratory events, in a period of around four centuries, led groups of Arab origin to settle in the oasis of Douz, and subsequently mix with Arabized Berber populations.

The genetic structure of Tunisian populations was further explored through the analysis of the mitochondrial DNA variation (Capocasa et al. Submitted). To evaluate the possible impact of recent historical events on their gene pool, an analysis of the genetic relationships of these ethno-linguistic groups with other populations of the African context and the Mediterranean basin was carried out. Moreover, the evaluation of the genetic isolation of several groups settled in southern Tunisia was deepened, and the results compared with those previously obtained using a panel of autosomal SNPs. The genetic study of Tunisian populations will finally be completed through the analysis of allelic variants associated with lactose tolerance.

Italian bio-cultural atlas

Since 2008 Isita is supporting a research program concerning the genetic and genomic diversity of the Italian populations in relation to their cultural diversity.

The systematic analysis of mitochondrial DNA and Y chromosome diversity in a large set of Italian populations, including those subject to geo-cultural isolation factors, evidence that the magnitude of genetic diversity between them is greater than that observed throughout the European continent, prevalently driven by the multitude of geographical and linguistic isolates hosted al across the country. This is more evident for the so called “linguistic islands” of the eastern Italian Alps (Sappada, Sauris and Timau) (Capocasa et al., 2014), among which the most robust signatures of genetic isolation seem to be determined by a combination of linguistic and geographic factors.

From a genomic point of view, the analysis of around 88 thousands autosomal SNPs confirmed the higher degree of isolation of the Eastern Italian Alps German speaking minorities, compared to other Italian and even European isolates. Furthermore, the in depth analysis of intra- and inter-genomic diversity showed that dichotomizing human populations into open and isolated groups fails to capture the actual relations among their genomic features (Anagnostou et al., 2017). Finally, the analysis of heterogeneity among genomes within isolated and open populations challenge the traditional paradigm of population isolates as structured as genetically (and genomically) uniform entities. More specifically, again three small and highly inbred isolates of the Eastern Italian Alps were found to be characterized by levels of inter-individual heterogeneity largely exceeding that of all other populations, possibly due to relatively recent events of genetic introgression (Anagnostou et al., 2019).

Diet and human evolution: diversity of bitter taste genes and malaria in central-western Africa

From the appearance of our genus, which occurred about 2.7 million years ago with Homo habilis, up to much of the history of Homo sapiens, human groups have based their subsistence economy on scavenging or hunting for animal prey and gathering vegetables. With the Neolithic transition, this food supply model was replaced by systems based on agriculture and livestock. However, even today some human groups rely exclusively or mainly on food resources already available in nature. In this regard, central-western Africa is an area of ​​considerable interest as it is home to human groups that adopt both of these lifestyles. Among these are the Pygmies, semi-nomadic populations living in forest environments, and the Bantu, a linguistic grouping that includes over 400 ethnic groups widely spread in sub-Saharan Africa.

Given the continuous deforestation of sub-Saharan Africa, mainly due to the intensive use for agricultural purposes by the Bantu, particularly favorable environments have been created and expanded for the spread of vectors (genus Anopheles) of Plasmodium falciparum, responsible for the so-called malignant tertian.

In both Pygmies and Bantu there are genetic variants that confer protection against P. falciparum malaria, which mainly concern hemoglobin and erythrocyte enzymes and antigens. Another important study perspective is the role of eating habits. In particular, it is known that some bitter-tasting compounds introduced with the diet can exert a protective action against malaria; the greater or lesser perception of this taste could be decisive for their continuous intake and for a possible protective effect. The perception of bitter taste is determined by a family of TAS2R genes (Taste 2 Receptors), 25 in total, which code for specific receptors, with different substrates, and divided according to affinity with certain compounds (binders). Several studies have made it possible to identify two phenotypes, the ancestral one (not taster) and the derived one (taster). The latter would have been favored by natural selection as it would have made it possible to avoid particularly harmful compounds, with a distinctly bitter taste.

The project, supported in part by the Italian Institute of Anthropology, aims to investigate the possible role of the perception of bitter taste in protection from malaria, through the analysis of the diversity of all taste genes known to date in a total of you are Bantu and Pygmies of central Africa. These populations lend themselves very well to this study as their traditional diet includes foods such as cassava, palm nuts, fruit seeds, wild or cultivated herbs and vegetables that contain bitter compounds with possible anti-malarial action.

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