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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24 December 2021
A Correction to this paper has been published: https://doi.org/10.1038/s41431-021-01020-7
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Acknowledgements
We thank all the DNA donors who made this study possible. We are really grateful to the Banco Nacional de ADN (www.bancoadn.org) for providing part of the Spanish samples, and to Judit Béres for providing some Hungarian (Vlax and Romungro) samples, and Melinda Nagy for Slovakian Roma samples. We also thank Paula Sanz, Maria López-Valenzuela, Mònica Vallés, and the Genomic Core Facility at the UPF for their valuable technical help and advice. This study was partly supported by the Spanish Ministerio de EconomÃa y Competitividad Grant CGL2013-44351-P.
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The Genographic Consortium includes
Li Jin, Hui Li, and Shilin Li (Fudan University, Shanghai, China); Pandikumar Swamikrishnan (IBM, Somers, NY, USA); Asif Javed, Laxmi Parida, and Ajay K Royyuru (IBM, Yorktown Heights, NY, USA); R John Mitchell (La Trobe University, Melbourne, VIC, Australia); Pierre A Zalloua (Lebanese American University, Chouran, Beirut, Lebanon); Syama Adhikarla, Arun Kumar, Ganesh Prasad, Ramasamy Pitchappan, Arun Varatharajan Santhakumari, and Kavitha Valampuri (Madurai Kamaraj University, Madurai, Tamil Nadu, India); R Spencer Wells and Miguel G Vilar (National Geographic Society, Washington, DC, USA); Himla Soodyall (National Health Laboratory Service, Johannesburg, South Africa); Elena Balanovska and Oleg Balanovsky (Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia); Chris Tyler-Smith (The Wellcome Trust Sanger Institute, Hinxton, UK); FabrÃcio R Santos (Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil); Jaume Bertranpetit, Marc Haber, Marta Melé, and David Comas (Universitat Pompeu Fabra, Barcelona, Spain); Christina J Adler, Alan Cooper, Clio SI Der Sarkissian, and Wolfgang Haak (University of Adelaide, SA, Australia); Matthew E Kaplan and Nirav C Merchant (University of Arizona, Tucson, AZ, USA); Colin Renfrew (University of Cambridge, Cambridge, UK); Andrew C Clarke and Elizabeth A Matisoo-Smith (University of Otago, Dunedin, New Zealand); Jill B Gaieski and Theodore G Schurr (University of Pennsylvania, Philadelphia, PA, USA).
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MartÃnez-Cruz, B., Mendizabal, I., Harmant, C. et al. Origins, admixture and founder lineages in European Roma. Eur J Hum Genet 24, 937–943 (2016). https://doi.org/10.1038/ejhg.2015.201
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DOI: https://doi.org/10.1038/ejhg.2015.201
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