European Journal of Human Genetics advance online publication 16 September 2015; doi: 10.1038/ejhg.2015.201
Origins, admixture and founder lineages in European Roma
not open access
Begoña Martínez-Cruz1,15,16, Isabel Mendizabal1,15,17, Christine Harmant2,3, Rosario de Pablo4, Mihai Ioana5,6, Dora Angelicheva7, Anastasia Kouvatsi8, Halyna Makukh9, Mihai G Netea10, Horolma Pamjav11, Andrea Zalán11, Ivailo Tournev12,13, Elena Marushiakova14, Vesselin Popov14, Jaume Bertranpetit1, Luba Kalaydjieva7, Lluis Quintana-Murci2,3 and David Comas1 and the Genographic Consortium18
Received 2 February 2015; Revised 20 July 2015; Accepted 11 August 2015
Advance online publication 16 September 2015
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.
Origins, admixture and founder lineages in European Roma
not open access
Begoña Martínez-Cruz1,15,16, Isabel Mendizabal1,15,17, Christine Harmant2,3, Rosario de Pablo4, Mihai Ioana5,6, Dora Angelicheva7, Anastasia Kouvatsi8, Halyna Makukh9, Mihai G Netea10, Horolma Pamjav11, Andrea Zalán11, Ivailo Tournev12,13, Elena Marushiakova14, Vesselin Popov14, Jaume Bertranpetit1, Luba Kalaydjieva7, Lluis Quintana-Murci2,3 and David Comas1 and the Genographic Consortium18
Received 2 February 2015; Revised 20 July 2015; Accepted 11 August 2015
Advance online publication 16 September 2015
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.
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