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


Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
04 11 2022
Historique:
received: 15 06 2022
accepted: 30 10 2022
entrez: 5 11 2022
pubmed: 6 11 2022
medline: 9 11 2022
Statut: epublish

Résumé

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.

Identifiants

pubmed: 36333436
doi: 10.1038/s41598-022-23349-9
pii: 10.1038/s41598-022-23349-9
pmc: PMC9636147
doi:

Substances chimiques

DNA, Mitochondrial 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

18720

Subventions

Organisme : Spanish Ministry of Economy and Competitiveness
ID : CGL2016-75389-P
Organisme : Agència de Gestió d'Ajuts Universitaris i de la Recerca (Generalitat de Catalunya)
ID : 2017SGR00702

Informations de copyright

© 2022. The Author(s).

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Auteurs

Julen Aizpurua-Iraola (J)

Departament de Medicina i Ciències de la Vida, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, 08003, Barcelona, Spain.

Aaron Giménez (A)

Facultat de Sociologia, Universitat Autònoma de Barcelona, Barcelona, Spain.

Annabel Carballo-Mesa (A)

Facultat de Geografia i Història, Universitat de Barcelona, Barcelona, Spain.

Francesc Calafell (F)

Departament de Medicina i Ciències de la Vida, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, 08003, Barcelona, Spain.

David Comas (D)

Departament de Medicina i Ciències de la Vida, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, 08003, Barcelona, Spain. david.comas@upf.edu.

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Classifications MeSH