The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees

Front Genet. 2023 Jan 10:13:1100440. doi: 10.3389/fgene.2022.1100440. eCollection 2022.

Abstract

The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide variants in 435 individuals from the catalan Pyrenees covering around 200 km of a vast and abrupt region in the north of the Iberian Peninsula, for which we have information about the geographic origin of all grand-parents and parents. At a macro-geographic scale, our analyses recapitulate the genetic gradient observed in Spain. However, we also identified the presence of micro-population substructure among the sampled individuals. Such micro-population substructure does not correlate with geographic barriers such as the expected by the orography of the considered region, but by the bishoprics present in the covered geographic area. These results support that, on top of main human migrations, long ongoing socio-cultural factors have also shaped the genetic diversity observed at rural populations.

Keywords: bishopric boundaries; genetic variation; inbreeding; population differentiation; rural catalan Pyrenees; rural population.

Grants and funding

This work was supported by the Diputació of Lleida grant to JF. OL and IM acknowledge the support from Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa, CERCA Program/Generalitat de Catalunya, Spanish Ministry of Science and Innovation through the Instituto de Salud Carlos III, Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement, Co-financing with funds from the European Regional Development Fund by the Spanish Ministry of Science and Innovation corresponding to the Programa Operativo FEDER Plurirregional de España (POPE) 2014–2020 and by the Secretaria d’Universitats i Recerca, Departament d’Empresa i Coneixement of the Generalitat de Catalunya corresponding to the Programa Operatiu FEDER de Catalunya 2014–2020. OL gratefully acknowledges the financial support from Ministerio de Economía, Industria y Competitividad BFU 201568759-P and Generalitat de Catalunya (Government of Catalonia)—GRC 2017 SGR 937. IM gratefully acknowledges the financial support from the Government of Catalonia | Agència de Gestió d’Ajuts Universitaris i de Recerca (Agency for Management of University and Research Grants)—GRC 2014 SGR 615. MMA was supported by a FPU15/01251 from Ministerio de Ciencia, innovación y Universidades. MMA acknowledges the financial support from Precipita-FECYT (FBG 309307 project). The samples analyzed in this study are part of a much larger sample whose collection was supported by the project CGL 2011–27866 of the Ministerio de Ciencia y Tecnologia, the Fundació Moret i Marguí to PM.