title: Origins, admixture and founder lineages in European Roma.
abstract: The Roma, also known as 'Gypsies', represent the largest and the most widespread ethnic minority of Europe. There is increasing evidence, based on linguistic, anthropological and genetic data, to suggest that they originated from the Indian subcontinent, with subsequent bottlenecks and undetermined gene flow from/to hosting populations during their diaspora. Further support comes from the presence of Indian uniparentally inherited lineages, such as mitochondrial DNA M and Y-chromosome H haplogroups, in a significant number of Roma individuals. However, the limited resolution of most genetic studies so far, together with the restriction of the samples used, have prevented the detection of other non-Indian founder lineages that might have been present in the proto-Roma population. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.
authors.affiliation: Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: Begoña
authors.initials: B
authors.lastname: Martínez-Cruz
authors.affiliation: Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Mendizabal
authors.affiliation: Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.|CNRS URA3012, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Harmant
authors.affiliation: Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid, Spain.
authors.forename: Rosario
authors.initials: R
authors.lastname: de Pablo
authors.affiliation: University of Medicine and Pharmacy Craiova, Craiova, Romania.|University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania.
authors.forename: Mihai
authors.initials: M
authors.lastname: Ioana
authors.affiliation: Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.
authors.forename: Dora
authors.initials: D
authors.lastname: Angelicheva
authors.affiliation: Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Kouvatsi
authors.affiliation: Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine.
authors.forename: Halyna
authors.initials: H
authors.lastname: Makukh
authors.affiliation: Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
authors.affiliation: Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.
authors.forename: Horolma
authors.initials: H
authors.lastname: Pamjav
authors.affiliation: Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.
authors.forename: Andrea
authors.initials: A
authors.lastname: Zalán
authors.affiliation: Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.|Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.affiliation: Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.
authors.forename: Elena
authors.initials: E
authors.lastname: Marushiakova
authors.affiliation: Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.
authors.forename: Vesselin
authors.initials: V
authors.lastname: Popov
authors.affiliation: Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: Jaume
authors.identifier: 0000-0003-0100-0590
authors.initials: J
authors.lastname: Bertranpetit
authors.affiliation: Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
authors.affiliation: Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.|CNRS URA3012, Paris, France.
authors.forename: Lluis
authors.initials: L
authors.lastname: Quintana-Murci
authors.affiliation: Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Comas
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005060:Europe; D018703:Founder Effect; D018740:Genetic Heterogeneity; D015894:Genome, Human; D063426:Human Migration; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D006178:Romani People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial