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Uniparental markers reveal new insights on subcontinental ancestry and sex-biased admixture in Brazil

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Abstract

The Brazilian population is a product of asymmetric admixture among European men and Amerindian and African women. However, Brazilian subcontinental ancestry is scarcely documented, especially regarding its African roots. Here, we aimed to unveil the uniparental continental and subcontinental contributions from distinct Brazilian regions, including South (n = 43), Southeast (n = 71), the poorly genetically characterized Central-Western region (n = 323), and a subset of unique Brazilian Amerindians (n = 24), in the context of their genome-wide ancestral contributions. The overwhelming majority of European Y haplogroups (85%) contrast sharply with the predominant African and Amerindian mtDNA haplogroups (73.2%) in admixed populations, whereas in Amerindians, non-Native haplogroups could only be detected through the paternal line. Our in-depth investigation of uniparental markers showed signals of an Andean and Central-Brazilian Amerindian maternal contribution to Southeastern and Central-Western Brazil (83.1 ± 2.1% and 56.9 ± 0.2%, respectively), the last having the highest paternal Amerindian ancestry yet described for an admixed Brazilian region (9.7%) and contrasting with higher Southern-Brazilian Amerindian contribution to Southern Brazil (59.6 ± 1%). Unlike the higher African Bantu contribution previously reported for the South and Southeast, a relevant Western African non-Bantu contribution was detected in those regions (85.7 ± 5% and 71.8 ± 10.8% respectively). In contrast, a higher Bantu contribution was described for the first time in the Central-West (64.8 ± 1.3% maternal and 86.9 ± 9.6% paternal). We observed sex-biased signatures consistent with the historically recorded Brazilian colonization and added new insights in the subcontinental maternal ancestry of Brazilians from regions never studied at this level.

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Availability of data and materials

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

We thank the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES/PROAP–Finance Code 001) for financial support and for the scholarships provided to Iriel Araceli Joerin Luque and Verónica Calonga Solís, and for financial support through the Young Talent Attraction, Science without Borders Program (CAPES—88881.067970/2014–01) provided to Danillo G. Augusto. We also thank the Programa de Apoio a Núcleos de Excelência—Fundação Araucária de Apoio ao Desenvolvimento Científico e Tecnológico do Paraná (PRONEX-FA—Convênio 116/2018—Protocol 50530, Grant recipient: Maria Luiza Petzl-Erler).

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Author notes

  1. Rodrigo Coutinho de Almeida

    Present address: Department of Biomedical Data Sciences, Section Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands

Authors and Affiliations

  1. Programa de Pós-Graduação em Genética, Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná (UFPR), Centro Politécnico, Jardim das Américas, Curitiba, Paraná, 81531-980, Brazil

    Iriel A. Joerin-Luque, Danillo G. Augusto, Verónica Calonga-Solís, Maria Luiza Petzl-Erler & Marcia Holsbach Beltrame

  2. University of California, San Francisco, CA, USA

    Danillo G. Augusto

  3. Câmara de Educação do Campo, UFPR, Setor Litoral, Matinhos, Paraná, 83260-000, Brazil

    Claudemira Vieira Gusmão Lopes

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  1. Iriel A. Joerin-Luque
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Contributions

MHB contributed to the study's conception and supervision. Genotyping and data generation were performed by DGA. Data analysis was performed by IAJL, VCS, and RCdA. MHB, MLP-E, and DGA contributed with reagents and/or DNA samples. The first draft of the manuscript was written by IAJL and MHB. All authors commented on previous versions of the manuscript. All authors revised and approved the final manuscript.

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Correspondence to Iriel A. Joerin-Luque.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical approval

This study was approved by the Brazilian National Ethics Committee (CONEP, approval number 2970200) under Brazilian Federal laws and the Declaration of Helsinki.

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Informed consent was obtained from all individual participants included in the study.

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Joerin-Luque, I.A., Augusto, D.G., Calonga-Solís, V. et al. Uniparental markers reveal new insights on subcontinental ancestry and sex-biased admixture in Brazil. Mol Genet Genomics 297, 419–435 (2022). https://doi.org/10.1007/s00438-022-01857-7

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