Catalogo dei Corsi di studio

PAOLO ANAGNOSTOU
Curriculum Vitae
Place: Rome
Date: 20/11/2019

PART I GENERAL INFORMATION

Full Name Paolo Anagnostou
Date of Birth 17/04/1976
Place of Birth Athens (Greece)
E-mail paolo.anagnostou@uniroma1.it

PART II EDUCATION

Type Year Institution Notes (Degree, Experience, )
University graduation 2007 University of Rome La Sapienza Degree in Biological Sciences; Thesis title: Analisi della variabilità ad un locus associato alla tolleranza al lattosio (T-13910), in popolazioni europee ed asiatiche
PhD 2011 University of Bologna PhD in Biodiversity and Evolution; Thesis title: The genetic signature of Neolithic in Greece

PART III APPOINTMENTS

IIIA Academic Appointments

Start End Institution Position
2/03/2020 Ongoing University of Rome La Sapienza , Department of Environmental Biology Associate Professor
1/03/2017 1/03/2020 University of Rome La Sapienza , Department of Environmental Biology Research Fellowship type RTDb
1/5/2015 28/02/2017 University of Rome La Sapienza , Department of Environmental Biology Research Fellowship; Project title: Un'infrastruttura dedicata agli Open Data della Sapienza Università di Roma
1/9/2011 31/8/2014 University of Rome La Sapienza , Department of Environmental Biology Research Fellowship; Project title: Studio antropologico di popolazioni umane isolate
1/6/2010 31/9/2010 University of Rome La Sapienza , Department of Animal and Human Biology Independent contractor agreement; Activity: Analisi specialistiche di polimorfismi SNP del DNA mitocondriale e di polimorfismi STR degli autosomici
1/2/2007 31/12/2007 University of Rome La Sapienza , Department of Animal and Human Biology Independent contractor agreement; Activity: Raccolta e gestione dati molecolari

PART V PUBLICATIONS

Anagnostou, P., Dominici, V., Battaggia, C., Lisi, A., Sarno, S., Boattini, A., Calò, C., Francalacci, P., Vona, G., Tofanelli, S., Vilar, M.G., Colonna, V., Pagani, L., Bisol, G.D. Inter-individual genomic heterogeneity within European population isolates. (2019) PLoS ONE, 14 (10). DOI: 10.1371/journal.pone.0214564
D'Atanasio, E., Trombetta, B., Bonito, M., Finocchio, A., Di Vito, G., Seghizzi, M., Romano, R., Russo, G., Paganotti, G.M., Watson, E., Coppa, A., Anagnostou, P., Dugoujon, J.-M., Moral, P., Sellitto, D., Novelletto, A., Cruciani, F. The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages. (2018) Genome Biology, 19 (1). DOI: 10.1186/s13059-018-1393-5
Serventi, P., Panicucci, C., Bodega, R., De Fanti, S., Sarno, S., Fondevila Alvarez, M., Brisighelli, F., Trombetta, B., Anagnostou, P., Ferri, G., Vazzana, A., Delpino, C., Gruppioni, G., Luiselli, D., Cilli, E. Iron Age Italic population genetics: the Piceni from Novilara (8th 7th century BC). (2018) Annals of Human Biology, 45 (1), pp. 34-43. DOI: 10.1080/03014460.2017.1414876
Anagnostou, P., Capocasa, M., Dominici, V., Montinaro, F., Coia, V., Destro-Bisol, G. Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations. (2017) Annals of Human Biology, 44 (2), pp. 140-148. DOI: 10.1080/03014460.2016.1181784
Anagnostou, P., Dominici, V., Battaggia, C., Pagani, L., Vilar, M., Wells, R.S., Pettener, D., Sarno, S., Boattini, A., Francalacci, P., Colonna, V., Vona, G., Calò, C., Bisol, G.D., Tofanelli, S. Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset. DOI: 10.1038/srep41614
Montinaro, F., Busby, G.B.J., Gonzalez-Santos, M., Oosthuitzen, O., Oosthuitzen, E., Anagnostou, P., Destro-Bisol, G., Pascali, V.L., Capelli, C. Complex ancient genetic structure and cultural transitions in Southern African populations. (2017) Genetics, 205 (1), pp. 303-316. DOI: 10.1534/genetics.116.189209
Sarno, S., Tofanelli, S., De Fanti, S., Quagliariello, A., Bortolini, E., Ferri, G., Anagnostou, P., Brisighelli, F., Capelli, C., Tagarelli, G., Sineo, L., Luiselli, D., Boattini, A., Pettener, D. Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe. (2016) European Journal of Human Genetics, 24 (4), pp. 600-606. DOI: 10.1038/ejhg.2015.138
Tofanelli, S., Brisighelli, F., Anagnostou, P., Busby, G.B.J., Ferri, G., Thomas, M.G., Taglioli, L., Rudan, I., Zemunik, T., Hayward, C., Bolnick, D., Romano, V., Cali, F., Luiselli, D., Shepherd, G.B., Tusa, S., Facella, A., Capelli, C. The Greeks in the West: Genetic signatures of the Hellenic colonisation in southern Italy and Sicily. (2016) European Journal of Human Genetics, 24 (3), pp. 429-436. DOI: 10.1038/ejhg.2015.124
Coia, V., Cipollini, G., Anagnostou, P., Maixner, F., Battaggia, C., Brisighelli, F., Gómez-Carballa, A., Destro Bisol, G., Salas, A., Zink, A. Whole mitochondrial DNA sequencing in Alpine populations and the genetic history of the Neolithic Tyrolean Iceman. (2016) Scientific Reports, 6, art. no. 18932. DOI: 10.1038/srep18932
Capocasa, M., Anagnostou, P., D'Abramo, F., Matteucci, G., Dominici, V., Bisol, G.D., Rufo, F. Samples and data accessibility in research biobanks: An explorative survey. (2016) PeerJ, 2016 (2), art. no. 1613. DOI: 10.7717/peerj.1613
González-Santos, M.G., Montinaro, F., Oosthuizen, O., Oosthuizen, E., Busby, G.B.J., Anagnostou, P., Destro-Bisol, G., Pascali, V., Capelli, C. Genome-Wide snp analysis of southern african populations provides new insights into the dispersal of bantu-Speaking groups. (2015) Genome Biology and Evolution, 7 (9), pp. 2560-2568. DOI: 10.1093/gbe/evv164
Anagnostou, P., Capocasa, M., Milia, N., Sanna, E., Battaggia, C., Luzi, D., Bisol, G.D. When data sharing gets close to 100%: What human paleogenetics can teach the open science movement. (2015) PLoS ONE, 10 (3), art. no. e0121409. DOI: 10.1371/journal.pone.0121409
Busby, G.B.J., Hellenthal, G., Montinaro, F., Tofanelli, S., Bulayeva, K., Rudan, I., Zemunik, T., Hayward, C., Toncheva, D., Karachanak-Yankova, S., Nesheva, D., Anagnostou, P., Cali, F., Brisighelli, F., Romano, V., Lefranc, G., Buresi, C., Ben Chibani, J., Haj-Khelil, A., Denden, S., Ploski, R., Krajewski, P., Hervig, T., Moen, T., Herrera, R.J., Wilson, J.F., Myers, S., Capelli, C. The role of recent admixture in forming the contemporary West Eurasian genomic landscape. (2015) Current Biology, 25 (19), pp. 2518-2526. DOI: 10.1016/j.cub.2015.08.007
Bisol, G.D., Anagnostou, P., Capocasa, M., Bencivelli, S., Cerroni, A., Contreras, J., Enke, N., Fantini, B., Greco, P., Heeney, C., Luzi, D., Manghi, P., Mascalzoni, D., Molloy, J.C., Parenti, F., Wicherts, J.M., Boulton, G. Perspectives on open science and scientific data sharing: An interdisciplinary workshop. (2014) Journal of Anthropological Sciences, 92 (2014), pp. 179-200. DOI: 10.4436/JASS.92006
Bisol, G.D., Anagnostou, P., Bruner, E., Capocasa, M., Canali, S., Danubio, M.E., Di Vincenzo, F., Fantini, B., Greco, P., Cecchi, J.M., Parenti, F., Pavanello, M., Pettener, D., Pievani, T., Saracino, B., Rufo, F., Sanna, E., Vargiu, R., Vona, G. Open data, science and society: Launching oasis, the flagship initiative of the istituto italiano di antropologia. (2014) Journal of Anthropological Sciences, 92 (2014), pp. 1-4. DOI: 10.4436/JASS.92016
Capocasa, M., Anagnostou, P., Bachis, V., Battaggia, C., Bertoncini, S., Biondi, G., Boattini, A., Boschi, I., Brisighelli, F., Calò, C.M., Carta, M., Coia, V., Corrias, L., Crivellaro, F., De Fanti, S., Dominici, V., Ferri, G., Francalacci, P., Franceschi, Z.A., Luiselli, D., Morelli, L., Paoli, G., Rickards, O., Robledo, R., Sanna, D., Sanna, E., Sarno, S., Sineo, L., Taglioli, L., Tagarelli, G., Tofanelli, S., Vona, G., Pettener, D., Bisol, G.D. Linguistic, geographic and genetic isolation: A collaborative study of italian populations. (2014) Journal of Anthropological Sciences, 92 (2014), pp. 201-231. DOI: 10.4436/JASS.92001
Ranciaro, A., Campbell, M.C., Hirbo, J.B., Ko, W.-Y., Froment, A., Anagnostou, P., Kotze, M.J., Ibrahim, M., Nyambo, T., Omar, S.A., Tishkoff, S.A. Genetic origins of lactase persistence and the spread of pastoralism in Africa. (2014) American Journal of Human Genetics, 94 (4), pp. 496-510. DOI: 10.1016/j.ajhg.2014.02.009
Capocasa, M., Taglioli, L., Anagnostou, P., Paoli, G., Danubio, M.E. Determinants of marital behaviour in five Apennine communities of Central Italy inferred by surname analysis, repeated pairs and kinship estimates. (2014) HOMO- Journal of Comparative Human Biology, 65 (1), pp. 64-74. DOI: 10.1016/j.jchb.2013.08.001
Coia, V., Capocasa, M., Anagnostou, P., Pascali, V., Scarnicci, F., Boschi, I., Battaggia, C., Crivellaro, F., Ferri, G., Alù, M., Brisighelli, F., Busby, G.B.J., Capelli, C., Maixner, F., Cipollini, G., Viazzo, P.P., Zink, A., Bisol, G.D. Demographic histories, isolation and social factors as determinants of the genetic structure of alpine linguistic groups. (2013) PLoS ONE, 8 (12), art. no. e81704. DOI: 10.1371/journal.pone.0081704
Destro-Bisol, G., Capocasa, M., Anagnostou, P., Greco, P. Opening Science to Society, a new initiative of the Istituto Italiano di antropologia. (2013) Journal of Anthropological Sciences, 91, pp. 233-235. DOI: 10.4436/JASS.91022
Capocasa, M., Battaggia, C., Anagnostou, P., Montinaro, F., Boschi, I., Ferri, G., Alù, M., Coia, V., Crivellaro, F., Bisol, G.D. Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities. (2013) PLoS ONE, 8 (2), art. no. e56371. DOI: 10.1371/journal.pone.0056371
Anagnostou, P., Capocasa, M., Milia, N., Bisol, G.D. Research data sharing: Lessons from forensic genetics. (2013) Forensic Science International: Genetics, 7 (6), pp. e117-e119. DOI: 10.1016/j.fsigen.2013.07.012
Anagnostou, P., Battaggia, C., Capocasa, M., Boschi, I., Brisighelli, F., Batini, C., Spedini, G., Destro-Bisol, G. Reevaluating a model of gender-biased gene flow among sub-saharan hunter-gatherers and farmers. (2013) Human Biology, 85 (4), pp. 597-606. DOI: 10.3378/027.085.0406
Montinaro, F., Boschi, I., Trombetta, F., Merigioli, S., Anagnostou, P., Battaggia, C., Capocasa, M., Crivellaro, F., Destro Bisol, G., Coia, V. Using forensic microsatellites to decipher the genetic structure of linguistic and geographic isolates: A survey in the eastern Italian Alps. (2012) Forensic Science International: Genetics, 6 (6), pp. 827-833. DOI: 10.1016/j.fsigen.2012.04.001
Congiu, A., Anagnostou, P., Milia, N., Capocasa, M., Montinaro, F., Bisol, G.D. Online databases for mtDNA and Y chromosome polymorphisms in human populations. (2012) Journal of Anthropological Sciences, 90, pp. 201-215. DOI: 10.4436/jass.90020
Destro Bisol, G., Capocasa, M., Anagnostou, P. When gender matters: New insights into the relationships between social systems and the genetic structure of human populations. (2012) Molecular Ecology, 21 (20), pp. 4917-4920. DOI: 10.1111/mec.12001
Milia, N., Congiu, A., Anagnostou, P., Montinaro, F., Capocasa, M., Sanna, E., Bisol, G.D. Mine, yours, ours? sharing data on human genetic variation. (2012) PLoS ONE, 7 (6), art. no. e37552. DOI: 10.1371/journal.pone.0037552
Battaggia, C., Anagnostou, P., Bosch, I., Brisighelli, F., Destro-Bisol, G., Capocasa, M. Detecting sex-biased gene flow in African-Americans through the analysis of intra- and inter-population variation at mitochondrial dna and y- chromosome microsatellites. (2012) Balkan Journal of Medical Genetics, 15 (2), pp. 7-34. DOI: 10.2478/bjmg-2013-0001
Busby, G.B.J., Brisighelli, F., Sánchez-Diz, P., Ramos-Luis, E., Martinez-Cadenas, C., Thomas, M.G., Bradley, D.G., Gusmão, L., Winney, B., Bodmer, W., Vennemann, M., Coia, V., Scarnicci, F., Tofanelli, S., Vona, G., Ploski, R., Vecchiotti, C., Zemunik, T., Rudan, I., Karachanak, S., Toncheva, D., Anagnostou, P., Ferri, G., Rapone, C., Hervig, T., Moen, T., Wilson, J.F., Capelli, C. The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269 (2012) Proceedings of the Royal Society B: Biological Sciences, 279 (1730), pp. 884-892. DOI: 10.1098/rspb.2011.1044
Spínola, H., Couto, A.R., Peixoto, M.J., Anagnostou, P., Destro-Bisol, G., Spedini, G., Lopéz-Larrea, C., Bruges-Armas, J. HLA Class-I Diversity in Cameroon: Evidence for a North-South Structure of Genetic Variation and Relationships with African Populations. (2011) Annals of Human Genetics, 75 (6), pp. 665-677. DOI: 10.1111/j.1469-1809.2011.00672.x
Anagnostou, P., Coia, V., Spedini, G., Destro-Bisol, G. Mitochondrial, Y-chromosomal and autosomal variation in Mbenzele Pygmies from the Central African Republic. (2010) Collegium Antropologicum, 34 (2), pp. 535-543.
Anagnostou, P., Battaggia, C., Coia, V., Capelli, C., Fabbri, C., Pettener, D., Destro-Bisol, G., Luiselli, D. Tracing the distribution and evolution of lactase persistence in southern Europe through the study of the T-13910 variant. (2009) American Journal of Human Biology, 21 (2), pp. 217-219. DOI: 10.1002/ajhb.20851
Bisol, G.D., Anagnostou, P., Batini, C., Battaggia, C., Bertoncini, S., Boattini, A., Caciagli, L., Calò, C.M., Capelli, C., Capocasa, M., Castrì, L., Ciani, G., Cola, V., Corrias, L., Crivellaro, F., Ghiani, M.E., Luiselli, D., Mela, C., Melis, A., Montano, V., Paoli, G., Sanna, E., Rufo, F., Sazzini, M., Taglloli, L., Tofanelli, S., Useli, A., Vona, G., Pettener, D. Italian isolates today: Geographic and linguistic factors shaping human biodiversity. (2008) Journal of Anthropological Sciences, 86, pp. 179-188.

PART VI OTHER PUBLICATIONS

Publications (not indexed)

Di Lernia S, Anagnostou P, Ben Fraj T, Ben Nasr J, Boukhchim N Boussoffara R, Bel Haj Brahim H, Cancellieri E, Carpentieri M, Castorina F, Destro Bisol G, Lucci E, Manzi G, Marnaoui M, Monaco A, Ouaja M, Jaouadi S, Tafuri MA. First Archaeological Investigations in the Chott El Jerid Area, Southern Tunisia. Scienze dell Antichità. 2017; 23.1.

Book chapters
Capocasa M, Anagnostou P, Destro-Bisol G. Le immagini degli antropologi Italiani tra 800 e 900. In A. Volpone, G. Destro-Bisol (eds) Se vi sono donne di genio. Appunti di viaggio nell antropologia dall unità d Italia ad oggi. 2011 Casa editrice Università La Sapienza, Roma

PART VII RESEARCH ACTIVITIES

1. Genetic diversity in Italian and European isolated populations

Keywords: Genetic isolation, cultural factors, Minority languages, European isolates, isolation signatures

This ongoing research line aims to analyse the genetic and genomic diversity of Italian and European populations subject to geographical and/or cultural isolation factors. The whole research develops following four sub-activities

a. Genetic variation in the German-speaking minorities of the Italian Oriental Alps

This activity is focused on the analysis of the genetic variation (mtDNA and Y chromosome) in 4 German-speaking islands, namely Sappada, Sauris, Timau and Cimbrians from Lessinia, located in the Eastern Italian Alps. Intra and inter-population analysis made it possible to detect signatures of genetic isolation in all populations but the Cimbrians. The direct estimate of gene flow through Bayesian approach (IM software) revealed that the immigration levels in the Sauris, Sappada and Timau were much lower than what observed among neighbouring open populations. The hypothesis of the occurrence of a sort of local ethnicity between the above-mentioned three communities was evaluated testing different micro-evolutionary models by means of simulation approaches based on the coalescent theory (Capocasa et al 2013, 2014).

b. Genetic and cultural variation in Italian isolated and open populations in the European context

The Italian territory is characterized by one of the richest animal and plat biodiversity in Europe. Looking at this remarkable biodiversity in a wider perspective, does it also apply to human populations? To answer this question a systematic analysis of Italian open and isolated populations is required. The analysis of genetic variation in 57 populations, of which 29 were subject to isolation factors, revealed that, especially for mtDNA, the genetic diversity in Italy is significantly higher than in any other European population. On the other hand, a higher diversity of Y chromosome in Italy can be appreciated only for certain ranges of geographic distances (Capocasa et al 2014). Furthermore, the analyses showed that the simultaneous presence of both geographic and linguistic isolation factors is responsible for the most robust signatures of genetic isolation (Capocasa et al 2013, 2014).

c. Use of a resampling procedure for the identification of the genetic signatures of isolation

In current literature the detection of the signatures of isolation in the genetic makeup of human populations, rely on the comparison of intra- and inter-populations diversity statistics between open and putatively isolated populations. However, this approach has two evident limits. First, isolated populations are often small in size making available only a small number of samples suitable for analysis which reduces the accuracy of the estimates. Second, no thresholds has been yet established able to disentangle between the isolation signatures and the random fluctuations of estimates related to the sample size changes. To overcome these limitation a novel resampling based approach was employed to evaluate the intra-population diversity reduction, the increase of inter-population diversity and signatures of population stationarity in 34 Italian populations subject to isolation factors (Anagnostou et al 2016)

d. Analysis of the genomic makeup of human isolated populations

In current human genetic research, populations are often dichotomized into isolated and open using cultural and/or geographical barriers to gene flow as differential criteria. Although widespread, the use of these alternative categories could obscure further heterogeneity due to inter-population differences in effective size, growth rate, and timing or amount of gene flow. This ongoing research activity aims to better understand to what extent this dichotomy corresponds to the structure of genome diversity. 24 European populations, of which 10 subject to isolation factors were analysed for nearly 90,000 SNPs included in the Genochip 2.0 microarray. Patterns of intra-population diversity were found to vary significantly more among isolates probably due to differential levels of drift and inbreeding. The simultaneous analysis of several intra-population variation statistics (e.g. homozygosity, number and length of RoHs, number of IBD blocks, intra-population IBS identities) using an Principal Components analysis shows a substantial continuity among isolated and open populations concerning their measures of intra-population genomic diversity. A manuscript is now under consideration in a peer reviewed journal, the preprint version is available in bioRxiv (see preprint section in PartX - Other publications)

e. Innovative approaches to the study of isolated populations
The study of isolation and its effects on the genetic makeup of human populations relies mostly on the comparison of genetic and genomic variation between these groups and open populations. In all the above lines of research, innovative and novel approaches were used to answer specific questions or provide the means for a more reliable identification of isolation signals. The design and analysis of micro-evolutionary models with the use of coalescent simulation approaches were used to test for the occurrence of specific social factors (Capocasa et al 2013) and the possible effects of long term effective size in the observed results (Coia et al 2013). A novel approach based on resampling was developed in order to define a sample size based threshold for the correct identification of isolation signals, thus overcoming the possible confounding effects of small sample sizes (Anagnostou et al 2016). Finally, the combined analysis of several intra-population genomic variation measures through the use of a multivariate approach made it possible to better appreciate continuity among isolated and open populations as well as weight the effects of the different microevolutionary forces acting on the genome of isolated populations (Anagnostou et al preprint).

2. Genomic diversity of Tunisia ethno-linguistic groups

Keywords: North Africa, haplotype-based analyses, genome-wide, admixture, Berbers

Tunisia has been a crossroads for people from Africa, Europe and the Middle East since prehistoric times. At present, it is inhabited by two main ethnic groups, Arabs and Berbers, and several minorities. This ongoing research line aims at analysing the genomic diversity within and between Tunisian ethno-linguistic groups. The sampling involved subjects of self-reported Arab and Berber ethnicity. More specifically, the former includes individuals from Douz and the semi-nomadic group of the R Baya, while the latter incudes Berber speakers from Zraoua and Tamezret and Arab speakers from Matmata. All samples were analysed for nearly 1M autosomal SNPs. A comparison with populations from Africa, Asia and Europe highlighted a complex genomic makeup with five main components (North African, sub-Saharan African, Middle eastern, Arabian and European) that allow a clear distinction between Berbers and Arabs. Admixture time estimates show a multilayer pattern of admixture events, involving all three ethno-linguistic groups, which started around the mid XI century and lasted for nearly five centuries. This study provides evidence that the relationships between genetic and cultural diversity of old and new inhabitants of North Africa follow different patterns. Unlike what has been hypothesized for Algeria and Morocco, the Berbers of southern Tunisia seem to have preserved a significant part of their original genomic heritage despite Islamization and Arab cultural influence. Whereas Berber groups still share a common genetic background regardless of linguistic diversity and differential admixture, Arabs show clearly different genetic structures: the population from Douz bears multiple signatures of stratification and admixture, while the semi-nomad R Baya, who have maintained their original Bedouin lifestyle, retain most of the genomic background of Arabian populations.

3. Data sharing in human populations genetic research

Keywords: Anthropology, human genetic data, extant and ancient populations,

Public sharing of research data is considered a key priority for the scientific community since it allows: (i) the exploitation of information from unexplored perspectives, (ii) a more efficient use of resources, (iii) an increased transparency and reproducibility of research practices.
Empirical studies to evaluate the rate and ways data are shared is fundamental in order to develop tailored strategies to increase data sharing in the different research fields. To this regard, anthropology may benefit from these kind of studies. In fact, due to its inter-disciplinary nature, an increased data availability and the development of shared data and metadata standards between the diverse anthropology sub-fields could favour data reuse and widen the anthropological research perspectives.

a. Sharing of extant human populations genetic data

The main purpose of this line of research was to evaluate the rate and ways of human population genetic data sharing in Evolutionary-Anthropological research compared to closely related fields (Forensic and Medical genetics). An ad hoc workflow has been developed in order to collect data from a total of 508 articles published between 2008 and 2011 and containing original data of Y chromosome and mtDNA. The analysis of these data revealed that data sharing is far from being a common practice since overall 22% of the datasets were found to be withheld (Milia et al 2012). Furthermore, a comparison between the three research fields highlighted that Medical geneticists tend to share less than both Evolutionary and Forensic geneticists. This may be related to a higher impact of ethical and identification issues in the former research field (Anagnostou et al 2013).

b. Sharing of ancient human populations genetic and genomic data

Using a modified version of the workflow used in the above study this investigation aimed to analyse the sharing rates of ancient human genetic data. The scrutiny of 162 papers published between 1988 and 2013 showed that in this research field almost the totality of the data (97.6%) are actually publicly available. The application of a questionnaire-based survey and the examination of Journals editorial policies suggest that this high sharing rate cannot be simply explained by the need to comply with stakeholders requests. Overall, the study highlights three important aspects. First, researchers awareness of the importance of openness and transparency for scientific progress may complement stakeholders policies in achieving very high sharing rates. Second, widespread data sharing does not necessarily coincide with a prevalent use of practices which maximize data findability, accessibility, useability and preservation. Third and finally, the case of human paleogenetics tells us that a widespread awareness of the importance of Open Science may be important to build reliable scientific practices even in the presence of complex experimental challenges (Anagnostou et al 2015).

c. Intelligent openness of human populatio genomic data

This ongoing investigation aims at analysing the sharing rates and the compliance with the concept of Intelligent Openness of human genomic data. Three types of data were selected for this analysis: Snp microarray, gene expression microarray and whole-genome and whole-exome sequences. The investigation includes the scrutiny of a total of 900 papers which will make it possible to evaluate the rates of data sharing as well as the accessibility, findability, useability and assessability of the publicly available data. In addition, a questionnaire-based survey will be carried out in order to better understand the reasons behind the choice of researchers not to share the data.

4. Ancient peopling of Greece and Southern Europe

Keywords: Neolithic package, Y chromosome variation, mtDNA variation, Genetic structure, Greek population, Hellenic colonization, South Italy, Sicily

The Neolithic transition has been largely studied from several different perspectives and approaches. However, the route followed by the first Middle-eastern farmers during their arrival in Greece, and thus in the European continent, is still debated. This line of research aimed to test, through the use on high-resolution markers of Y chromosome and mtDNA, the two most supported hypotheses on the route followed by these populations (i) the maritime colonization of Northeastern Peloponnesus from Crete (ii) the island hopping route that finally brought migrants to Central Greece (Euboea). The analysis of the distribution, diversity and dating of the haplogroups associated with the Neolithic transition point to the second hypothesis as the most supported (Doctoral Thesis, see Allegato 3)
Another line of research focused on the Greek colonization of South Italy and Sicily. This process was a defining event in European cultural history, although the demographic processes and genetic impacts are still poorly known. To detect signatures of this impact a combination of high-resolution surveys of the variability of Y chromosome and mtDNA in selected samples of putative source and recipient populations with forward-in-time simulations of alternative demographic models was used. The results show a clear signature of Greek ancestry only in East Sicily compatible with the settlement from Euboea during the Archaic Period (8th-5th century BCE) (Tofanelli et al 2016). Similar results were obtained using genomic data (Busby et al 2015). Furthermore, simulations results evidence a moderate sex-bias in the numbers of individuals involved in the colonization: a few thousand breeding men and a few hundred breeding women.

5. Lactase persistence in human populations

Keywords: T-13910, European populations, African populations, Gene/culture coevolution, lactose tolerance

In humans, the ability to digest lactose, the sugar in milk, declines after weaning because of decreasing levels of the enzyme lactase phlorizin hydrolase, encoded by LCT. However, some individuals maintain high enzyme amounts and are able to digest lactose into adulthood. The mutation T-13910 located upstream of the lactase gene has been associated with this trait in European populations, whereas other three mutations (C-14010, G-13915 and G-13907) have been found only on African and Arabic populations.
The first investigation aimed to analyse the frequency and distribution of the T-13910 allele in 965 individuals from 20 different locations of Italy and Greece. The frequency of the T-13910 ranges between 0.237 and 0.09 in North-east Italy and Greece, respectively. The low microsatellite diversity associated with the T-13910 allele suggests a recent origin of this variant in all populations, whereas neutrality tests revealed a higher level of natural selection in in North-eastern Italy. This higher effect of natural selection in North-eastern Italy may be the result of different consumption habits of fresh milk and derivatives in respect to the other populations (Anagnostou et al 2009).
The second investigation focuses on African populations. MCM6 introns 9 and 13 and ~2 kb of the LCT promoter region in 819 individuals from 63 African populations and in 154 non-Africans from nine populations. Additionally, the association between physiological lactose tolerance and genetic variability at candidate regulatory regions was teste in 513 individuals from eastern Africa. The results confirmed the association between the lactose tolerance trait and three African and Arabic variants. Neutrality tests based on the allele frequency spectrum and long-range linkage disequilibrium, showed strong signatures of recent positive selection in eastern African populations as well as the Fulani from central Africa. Furthermore, haplotype analysis supported an eastern African origin of the C-14010 LP-associated mutation in southern Africa (Ranciaro et al 2014).

6. Gender biased gene flow in Sub-Sahara Africa

Keywords: mtDNA, Y chromosome, sub-Saharan Africa, asymmetric admixture, Bantu farmers, Pygmies, socio-cultural factors

Exploring the relations between socially constrained sex-biased dispersal and genetic structure in human populations provides an opportunity to understand how socio-cultural factors have shaped our genome. The Bantu farmers and Pygmy hunter/gatherers represent a good case study. This line of research aimed to verify the occurrence of such a social behaviour through the use of mtDNA and Y chromosome data from anthropologically and geographically homogeneous Bantu and Pygmy populations. The analysis of intra- and inter-population diversity supported the hypothesis of sex-biased gene flow and the expected differences in the demographic history and the degree of patrilocality and polyginy between the two population groups (Anagnostou et al 2013).

PART IX THIRD MISSION

The third mission activities are fundamental for the development of the cultural and intellectual fabric of the
Community and the involvement of the lay public in the research life cycle. Therefore, communicate research results and scientific knowledge and interact with the society should be a commitment for all researchers.

Dissemination and communication activities

Anagnostou P, Capocasa M, Destro Bisol G. 2013. Opening Science to Society": educare alla condivisione. Scienza in rete URL: http://www.scienzainrete.it/contenuto/articolo/paolo-anagnostou-marco-ca...
Destro Bisol G, Anagnostou P, Capocasa M. 2013. Scientific data sharing: ricerca e open science, un workshop. Scienza in rete URL: http://www.scienzainrete.it/contenuto/articolo/giovanni-destro-bisol-pao...
Milia N, Congiu A, Anagnostou P, Montinaro F, Capocasa M, Sanna E, Destro Bisol G. 2012. Mio, tuo o nostro? Uno studio sulla condivisione dei dati scientifici in Genetica Umana. LE SCIENZE WEB NEWS ISSN:1827-8922.
Meetings with the Alpine communities of Sappada, Sauris, Timau and Giazza for the communication of the results regarding the genetic study of the Italian linguistic minorities.
Capocasa M, Anagnostou P, Battaggia C, Destro Bisol G, 2012. Il patrimonio genetico dei Cimbri della Lessinia, uno studio interdisciplinare. Cimbri/Tzimbar 47:99-107.
Capocasa M, Anagnostou P, Battaggia C, Destro Bisol G. 2013. Omogeneità culturale e peculiarità genetiche della comunità alpina di Timau. Asou Geats 72:6-7.
Member of the initiative: Opening science to society: an interdisciplinary initiative for data sharing URL: https://sites.google.com/site/openingsciencetosociety/mission

PART X OTHER RESEARCH RELATED ACTIVITIES

Creation and management of the online repository Anthro-Digitdoc (http://www.isita-org.com/Anthro-Digit/Doc/Doc.html)
Creation and management of the online repository Anthro-Digitdata (http://www.isita-org.com/Anthro-Digit/data.htm)
Creation and management of the online repository Italian Isolates (http://www.isita-org.com/Anthro-Digit/italianisolates_PRINproject/index....)