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. 2016 Jun;24(6):937-43.
doi: 10.1038/ejhg.2015.201. Epub 2015 Sep 16.

Origins, admixture and founder lineages in European Roma

Begoña Martínez-Cruz  1 , Isabel Mendizabal  1 , Christine Harmant  2   3 , Rosario de Pablo  4 , Mihai Ioana  5   6 , Dora Angelicheva  7 , Anastasia Kouvatsi  8 , Halyna Makukh  9 , Mihai G Netea  10 , Horolma Pamjav  11 , Andrea Zalán  11 , Ivailo Tournev  12   13 , Elena Marushiakova  14 , Vesselin Popov  14 , Jaume Bertranpetit  1 , Luba Kalaydjieva  7 , Lluis Quintana-Murci  2   3 , David Comas  1
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Origins, admixture and founder lineages in European Roma

Begoña Martínez-Cruz et al. Eur J Hum Genet. 2016 Jun.

Erratum in

  • Correction to: Origins, admixture and founder lineages in European Roma.
    Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D; Genographic Consortium. Martínez-Cruz B, et al. Eur J Hum Genet. 2022 Apr;30(4):490. doi: 10.1038/s41431-021-01020-7. Eur J Hum Genet. 2022. PMID: 34952928 Free PMC article. No abstract available.

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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Figures

Figure 1
Figure 1
(a) Y-chromosome and (b) mtDNA haplogroup frequencies corresponding to founder lineages in the European Roma populations. Non-founder haplogroups are grouped as ‘others'. WIMP values for the group of founder lineages are shown in brackets at the bottom of each population sample.
Figure 2
Figure 2
Correlations (Spearman's rank) between geographical distance and internal diversity measured by WIMP. (a) Example of the correlation (separating founder and non-founder lineages) for the mtDNA taking as a reference Balkan Bulgarian Roma. The dashed lines indicate linear regression (lm() function in R). (b) Correlations for founder and non-founder lineages in Roma samples (in bold, the example shown in a). (c) Correlations in host populations. P-values of the correlations are shown in Supplementary Table S7.
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References

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