Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks

The Roma are the largest ethnic minority in Europe. With a Northwestern Indian origin around ~ 1.5 kya, they travelled throughout West Asia until their arrival in Europe around the eleventh century CE. Their diaspora through Europe is characterized by population bottlenecks and founder events which have contributed to their present day genetic and cultural diversity. In our study, we focus on the effects of founder effects in the mitochondrial DNA (mtDNA) pool of Iberian Roma by producing and analyzing 144 novel whole mtDNA sequences of Iberian Roma. Over 60% of their mtDNA pool is composed by founder lineages of South Asian origin or acquired by gene flow during their diaspora in the Middle East or locally in Europe in Europe. The TMRCA of these lineages predates the historical record of the Roma arrival in Spain. The abundance of founder lineages is in contrast with ~ 0.7% of autochthonous founder lineages present in the non-Roma Iberian population. Within those founder lineages, we found a substantial amount of South Asian M5a1b1a1 haplotypes and high frequencies of West Eurasian founder lineages (U3b1c, J2b1c, J1c1b, J1b3a, H88, among others), which we characterized phylogenetically and put in phylogeographical context. Besides, we found no evidence of genetic substructure of Roma within the Iberian Peninsula. These results show the magnitude of founder effects in the Iberian Roma and further explain the Roma history and genetic diversity from a matrilineal point of view.This work was supported by the Spanish Ministry of Economy and Competitiveness (grant numbers CGL2016-75389-P (MINEICO/FEDER, UE), PID2019-106485GB-I00 (MINEICO), and “Unidad María de Maeztu” (MDM-2014-0370) to DC and FC; and Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya, grant 2017SGR00702)