title: Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.
abstract: Human populations are often dichotomized into "isolated" and "open" categories 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. We compared intra and inter-population variation measures combining novel and literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic and/or linguistic European isolates. Patterns of intra-population diversity were found to vary considerably more among isolates, probably due to differential levels of drift and inbreeding. The relatively large effective size estimated for some population isolates challenges the generalized view that they originate from small founding groups. Principal component scores based on measures of intra-population variation of isolated and open populations were found to be distributed along a continuum, with an area of intersection between the two groups. Patterns of inter-population diversity were even closer, as we were able to detect some differences between population groups only for a few multidimensional scaling dimensions. Therefore, different lines of evidence suggest that dichotomizing human populations into open and isolated groups fails to capture the actual relations among their genomic features.
authors.affiliation: Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Piazzale Aldo Moro 5, Rome, 00185, Italy.|Istituto Italiano di Antropologia, Piazzale Aldo Moro 5, Rome, 00185, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Anagnostou
authors.affiliation: Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Piazzale Aldo Moro 5, Rome, 00185, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Dominici
authors.affiliation: Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Piazzale Aldo Moro 5, Rome, 00185, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Battaggia
authors.affiliation: Estonian Biocentre, Riia 23b, 51010, Tartu, Estonia.|Dipartimento di Scienze Biologiche, Geologiche ed Ambientali, Università di Bologna, Via Selmi 3, Bologna, 40126, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Pagani
authors.affiliation: Department of Anthropology, University of Pennsylvania, 3260 South St, Philadelphia, Pennsylvania, United States of America.|National Geographic Society, 1145 17th Street NW, Washington DC 20036, United States of America.
authors.forename: Miguel
authors.initials: M
authors.lastname: Vilar
authors.affiliation: Department of Integrative Biology, University of Texas at Austin, Austin, TX 78712, USA.
authors.forename: R Spencer
authors.initials: RS
authors.lastname: Wells
authors.affiliation: Dipartimento di Scienze Biologiche, Geologiche ed Ambientali, Università di Bologna, Via Selmi 3, Bologna, 40126, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pettener
authors.affiliation: Dipartimento di Scienze Biologiche, Geologiche ed Ambientali, Università di Bologna, Via Selmi 3, Bologna, 40126, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Sarno
authors.affiliation: Dipartimento di Scienze Biologiche, Geologiche ed Ambientali, Università di Bologna, Via Selmi 3, Bologna, 40126, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Boattini
authors.affiliation: Dipartimento di Scienze della Natura del Territorio, Università di Sassari, Via Piandanna 4, Sassari, 07100, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Francalacci
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati-Traverso", National Research Council (CNR), Via Pietro Castellino, 111, Naples,80131, Italy.
authors.forename: Vincenza
authors.initials: V
authors.lastname: Colonna
authors.affiliation: Dipartimento di Scienze della Vita e dell'Ambiente, Università di Cagliari, SS 554, km 4.500, Monserrato, Cagliari,09042, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vona
authors.affiliation: Dipartimento di Scienze della Vita e dell'Ambiente, Università di Cagliari, SS 554, km 4.500, Monserrato, Cagliari,09042, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Calò
authors.affiliation: Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Piazzale Aldo Moro 5, Rome, 00185, Italy.|Istituto Italiano di Antropologia, Piazzale Aldo Moro 5, Rome, 00185, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Destro Bisol
authors.affiliation: Dipartimento di Biologia, Università di Pisa, Via Ghini 13, Pisa, 56126, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Tofanelli
mesh_terms: D016000:Cluster Analysis; D005060:Europe; D019143:Evolution, Molecular; D051456:Gene Flow; D000068617:Genetic Background; D014644:Genetic Variation; D005828:Genetics, Population; D023281:Genomics / Q000379:methods; D005843:Geography; D006801:Humans; D011157:Population Dynamics; D060047:Reproductive Isolation; D044465:White People / Q000235:genetics*