Original Research Article Traces of Forgotten Historical Events in Mountain Communities in Central Italy: A Genetic Insight FRANCESCO MESSINA, 1 * ANDREA FINOCCHIO, 1 MARIO FEDERICO ROLFO, 2 FLAVIO DE ANGELIS, 1 CESARE RAPONE, 3 MARTINA COLETTA, 1 CRISTINA MART  INEZ-LABARGA, 1 GIANFRANCO BIONDI, 4 ANDREA BERTI, 3 AND OLGA RICKARDS 1 1 Department of Biology, Center of Molecular Anthropology for ancient DNA study, University of Rome ‘Tor Vergata’, Via della Ricerca Scientif- ica n. 1, 00133 Rome, Italy 2 Department of Historical, Philosophical and Social Sciences, Cultural and Territory Heritage, University of Rome ‘Tor Vergata’, Via Columbia n. 1, 00173 Rome, Italy 3 Carabinieri, Scientific Investigation Department, Viale di Tor di Quinto 151, 00191 Rome, Italy 4 Department of Environmental Sciences, University of L’Aquila, Via Vetoio, 67010 L’Aquila, Italy Objectives: Analysis of human genetic variation in mountain communities can shed light on the peopling of mountain- ous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstruct- ing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy. Methods: The communities were selected for their geographic isolation, attested biodemographic stability, and docu- mented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable seg- ments (HVS-I and HVS-II) of the mtDNA D-loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y-chromosome SNPs in 237 male individuals. Results: For both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool. Conclusions: The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwith- standing this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe-wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence. Am. J. Hum. Biol. 27:508–519, 2015. V C 2015 Wiley Periodicals, Inc. INTRODUCTION Reconstruction of the genetic history of mountain com- munities allows researchers to analyze the peopling of these regions and to determine whether their remote geo- graphic location spared them from outside invasion, thus preserving their genetic pool from admixture. Small com- munities can result from cultural effects, migration pat- terns, and single historical events, all of which may leave important signatures on the communities’ genetic pool (Trupiano, 2012). By virtue of its geographical position, the Italian peninsula was throughout its history a melting pot for people from continental Europe and the Mediterra- nean basin; however, the human communities living in the inner valleys of the Alpine and Apennine mountain ranges may have been able to keep their cultural and lin- guistic identity fairly intact. As such, the small mountain communities scattered throughout Italy can serve as a valuable model for studying genetic diversity at the micro-geographic level. Although remarkable for its cultural and environmen- tal heterogeneity, as extensively documented in its history and archaeology, and despite Italy’s complex historical landscape and geographical position, the Italian popula- tion does not differ substantially from other European populations, as demonstrated by both uniparental markers (Brisighelli et al., 2012; Boattini et al., 2013; Comas et al., 1996). Italy has been a land of diverse popu- lation migrations, each of which left a mark on the cul- tural landscape (Salvi, 1975). Among the numerous linguistic minorities, the Provenc¸al of the Italian Alps, the Croatian communities in Molise and the Arb€ ereshe, an Albanian-speaking ethnic minority, have been broadly analyzed from both a biodemographic (Biondi et al., 2001, 2005; Fiorini et al., 2007; Tagarelli et al., 2007) and a genetic point of view (Babalini et al., 2005; Boattini et al., 2010, 2011; Capocasa et al., 2014). Analysis of small rural communities, each with their peculiar genetic structure, could reveal clues about histori- cal founder events not mentioned in history books or accounts of cultural identity. Our study focused on seven mountain communities in Central Italy: six villages in Lat- ium (three in the province of Rome: Jenne, Vallepietra, Saracinesco; three in the province of Frosinone: Trevi nel Lazio and Filettino in the Upper Aniene Valley, and Piglio in the Sacco Valley) and one village in Abruzzi (Cappadocia in the province of L’Aquila; Fig. 1 and Supporting Informa- tion S-Table 1). These seven communities share features that make them particularly amenable for investigation, namely, all are located in mountain areas (600 to 1100 meters a.s.l.) and none belong to a specific ethnic minority. Additional Supporting Information may be found in the online version of this article. Contract grant sponsor: MIUR—PRIN; Contract grant number: 2008B4J2HS. *Correspondence to: Francesco Messina, University of Rome Tor Ver- gata, Center of Molecular Anthropology for Ancient DNA Study, Depart- ment of Biology, Rome, Italy. E-mail: francesco.messina@uniroma2.it Received 30 May 2014; Revision received 20 November 2014; Accepted 20 December 2014 DOI: 10.1002/ajhb.22677 Published online 27 February 2015 in Wiley Online Library (wileyonlinelibrary.com). V C 2015 Wiley Periodicals, Inc. AMERICAN JOURNAL OF HUMAN BIOLOGY 27:508–519 (2015)