Ancestral modal Y-STR haplotype shared among Romani and South Indian populations

Regueiro, María; Rivera, Luis; Chennakrishnaiah, Shilpa; Popović, Branka; Andjus, Stefan; Milašin, Jelena; Herrera, René J.

doi:10.1016/j.gene.2012.04.093

Cited by 16 publications

(17 citation statements)

References 30 publications

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“…1,6,7 It has been suggested that south India could have also genetically contributed to the proto-Roma based on the exact matches of Y-chromosome H haplotypes. 49 However, their Indian sampling was geographically restricted and NW India was not included. Altogether, it seems that a bottleneck pointing to a small number of founder proto-Roma 4,7,17 is the most likely scenario, which is compatible with a single migration wave rather than with multiple waves either from the same or from different places of origin.…”

Section: Discussionmentioning

confidence: 99%

Origins, admixture and founder lineages in European Roma

et al. 2015

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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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Section: Discussionmentioning

confidence: 99%

Origins, admixture and founder lineages in European Roma

et al. 2015

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“…Over the last few years, other Romani populations have been analyzed, including individuals from Hungary, Romania, Slovakia and Poland [13] [14] [15] [16] [17]. Regarding uniparental markers, a recent Y-chromosome study by Regueiro et al [18] claims that the Roma descended from southern Indian populations, thereby contradicting various reports based on mtDNA and autosomal studies (see below) that pointed to northwest India as the homeland of proto-Romani.…”

Section: Introductionmentioning

confidence: 99%

Indian Signatures in the Westernmost Edge of the European Romani Diaspora: New Insight from Mitogenomes

et al. 2013

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In agreement with historical documentation, several genetic studies have revealed ancestral links between the European Romani and India. The entire mitochondrial DNA (mtDNA) of 27 Spanish Romani was sequenced in order to shed further light on the origins of this population. The data were analyzed together with a large published dataset (mainly hypervariable region I [HVS-I] haplotypes) of Romani (N = 1,353) and non-Romani worldwide populations (N>150,000). Analysis of mitogenomes allowed the characterization of various Romani-specific clades. M5a1b1a1 is the most distinctive European Romani haplogroup; it is present in all Romani groups at variable frequencies (with only sporadic findings in non-Romani) and represents 18% of their mtDNA pool. Its phylogeographic features indicate that M5a1b1a1 originated 1.5 thousand years ago (kya; 95% CI: 1.3–1.8) in a proto-Romani population living in Northwest India. U3 represents the most characteristic Romani haplogroup of European/Near Eastern origin (12.4%); it appears at dissimilar frequencies across the continent (Iberia: ∼31%; Eastern/Central Europe: ∼13%). All U3 mitogenomes of our Iberian Romani sample fall within a new sub-clade, U3b1c, which can be dated to 0.5 kya (95% CI: 0.3–0.7); therefore, signaling a lower bound for the founder event that followed admixture in Europe/Near East. Other minor European/Near Eastern haplogroups (e.g. H24, H88a) were also assimilated into the Romani by introgression with neighboring populations during their diaspora into Europe; yet some show a differentiation from the phylogenetically closest non-Romani counterpart. The phylogeny of Romani mitogenomes shows clear signatures of low effective population sizes and founder effects. Overall, these results are in good agreement with historical documentation, suggesting that cultural identity and relative isolation have allowed the Romani to preserve a distinctive mtDNA heritage, with some features linking them unequivocally to their ancestral Indian homeland.

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“…Correspondence symbols for each geographical area are reported below: Iberian peninsula (gray circle); Balkan and Anatolia (black rhombus); Northern‐Eastern Europe (black dot); Western Asia (white hexagon); Italy (white triangle); Middle East (black square); North Africa (gray square); villages sampled in this study (black triangle). The references used for this analysis were: Badro et al, , Brisighelli et al, 2012, Battaglia et al, , Balanovky et al 2012, Cinnioglu et al, 2004, Flores et al, , Grugni et al, 2012, Regueiro et al, . Axis coordinates of all PCs for each population are given in Supporting Information S‐Table 7.…”

Section: Resultsmentioning

confidence: 99%