title: Linguistic, geographic and genetic isolation: a collaborative study of Italian populations.
abstract: The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity of Italian populations in the European context. The human genetic diversity of our country was found to be greater than observed throughout the continent at short (0-200 km) and intermediate (700-800km) distances, and accounted for most of the highest values of genetic distances observed at all geographic ranges. Interestingly, an important contribution to this pattern comes from the "linguistic islands"( e.g. German speaking groups of Sappada and Luserna from the Eastern Italian Alps), further proof of the importance of considering social and cultural factors when studying human genetic variation.
authors.affiliation: Istituto Italiano di Antropologia, Roma, Italy; Sapienza Universitá di Roma, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Roma, Italy, marco.capocasa@uniroma1.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Capocasa
authors.affiliation: Sapienza Universitá di Roma, Dipartimento di Biologia Ambientale, Roma, Italy; Istituto Italiano di Antropologia, Roma, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Anagnostou
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze della Vita e dell'Ambiente, Cagliari, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Bachis
authors.affiliation: Universitá di Roma, Dipartimento di Biologia Ambientale, Roma, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Battaggia
authors.affiliation: Universitá di Pisa, Dipartimento di Biologia, Pisa, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Bertoncini
authors.affiliation: Universitá dell'Aquila, Dipartimento di Scienze Ambientali, L'Aquila, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Biondi
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Boattini
authors.affiliation: Universitá Cattolica del Sacro Cuore, Istituto di Medicina Legale, Roma, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Boschi
authors.affiliation: Sapienza Universitá di Roma, Dipartimento di Biologia Ambientale, Roma, Italy; Universidade de Santiago de Compostela, Instituto de Ciencias Forenses, Santiago de Compostela, Spain.
authors.forename: Francesca
authors.initials: F
authors.lastname: Brisighelli
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze della Vita e dell'Ambiente, Cagliari, Italy.
authors.forename: Carla Maria
authors.initials: CM
authors.lastname: Caló
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy.
authors.forename: Marilisa
authors.initials: M
authors.lastname: Carta
authors.affiliation: Universitá di Trento, Dipartimento di Filosofia, Storia e Beni Culturali, Trento, Italy; Accademia Europea di Bolzano, Istituto per le Mummie e l'Iceman, Bolzano, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Coia
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze della Vita e dell'Ambiente, Cagliari, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Corrias
authors.affiliation: Sezione di Antropologia, Museo Nazionale Preistorico Etnografico "Luigi Pigorini", Roma, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Crivellaro
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: De Fanti
authors.affiliation: Sapienza Universitá di Roma, Dipartimento di Biologia Ambientale, Roma, Italy; Istituto Italiano di Antropologia, Roma, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Dominici
authors.affiliation: Universitá di Modena e Reggio Emilia, Dipartimento di Medicina Diagnostica, Clinica e di Sanitá Pubblica, Modena, Italy.
authors.forename: Gianmarco
authors.initials: G
authors.lastname: Ferri
authors.affiliation: Universitá di Sassari, Dipartimento di Scienze della Natura e del Territorio, Sassari, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Francalacci
authors.affiliation: Universitá di Bologna, Dipartimento di Discipline Storiche, Antropologiche e Geografiche, Bologna, Italy.
authors.forename: Zelda Alice
authors.initials: ZA
authors.lastname: Franceschi
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy.
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
authors.affiliation: Universitá di Sassari, Dipartimento di Scienze della Natura e del Territorio, Sassari, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Morelli
authors.affiliation: Universitá di Pisa, Dipartimento di Biologia, Pisa, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Paoli
authors.affiliation: Universitá degli Studi di Roma "Tor Vergata", Centro di Antropologia Molecolare per lo studio del DNA Antico, Dipartimento di Biologia, Roma, Italy.
authors.forename: Olga
authors.initials: O
authors.lastname: Rickards
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze Biomediche, Cagliari, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: Robledo
authors.affiliation: Universitá di Sassari, Dipartimento di Scienze della Natura e del Territorio, Sassari, Italy.
authors.forename: Daria
authors.initials: D
authors.lastname: Sanna
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze della Vita e dell'Ambiente, Cagliari, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Sanna
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Sarno
authors.affiliation: Universitá di Palermo, Dipartimento di Biologia Ambientale e Biodiversitá , Palermo, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Sineo
authors.affiliation: Universitá di Pisa, Dipartimento di Biologia, Pisa, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Taglioli
authors.affiliation: Istituto di Scienze Neurologiche, CNR, Mangone, Cosenza, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Tagarelli
authors.affiliation: Universitá di Pisa, Dipartimento di Biologia, Pisa, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Tofanelli
authors.affiliation: Universitá di Cagliari, Dipartimento di Scienze della Vita e dell'Ambiente, Cagliari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vona
authors.affiliation: Universitá di Bologna, Dipartimento di Scienze Biologiche, Geologiche e Ambientali, Bologna, Italy, davide.pettener@unibo.it.
authors.forename: Davide
authors.initials: D
authors.lastname: Pettener
authors.affiliation: Sapienza Universitá di Roma, Dipartimento di Biologia Ambientale, Roma, Italy; Istituto Italiano di Antropologia, Roma, Italy, destrobisol@uniroma1.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Destro Bisol
mesh_terms: D000883:Anthropology; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D051456:Gene Flow / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007558:Italy; D008037:Linguistics; D060047:Reproductive Isolation; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial