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

Iriel A Joerin-Luque; Danillo G Augusto; Verónica Calonga-Solís; Rodrigo Coutinho de Almeida; Claudemira Vieira Gusmão Lopes; Maria Luiza Petzl-Erler; Marcia Holsbach Beltrame

doi:10.1007/s00438-022-01857-7

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

Mol Genet Genomics. 2022 Mar;297(2):419-435. doi: 10.1007/s00438-022-01857-7. Epub 2022 Jan 21.

Authors

Iriel A Joerin-Luque¹, Danillo G Augusto^{2

3}, Verónica Calonga-Solís², Rodrigo Coutinho de Almeida⁴, Claudemira Vieira Gusmão Lopes⁵, Maria Luiza Petzl-Erler², Marcia Holsbach Beltrame²

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. irieljoerin@gmail.com.
² 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.
³ University of California, San Francisco, CA, USA.
⁴ Department of Biomedical Data Sciences, Section Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
⁵ Câmara de Educação do Campo, UFPR, Setor Litoral, Matinhos, Paraná, 83260-000, Brazil.

PMID: 35061071
DOI: 10.1007/s00438-022-01857-7

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.

Keywords: African diaspora; Haplotype; Mitochondrial lineages; Population structure; Sex-biased gene flow; Y chromosome.

MeSH terms

Black People* / genetics
Brazil
DNA, Mitochondrial* / genetics
Female
Genetics, Population
Haplotypes / genetics
Humans
Male

Substances

DNA, Mitochondrial

Abstract

MeSH terms

Substances

Grants and funding