A view of the maternal inheritance of Espírito Santo populations: The contrast between the admixed and Pomeranian descent groups

Raquel Silva Dos Reis; Filipa Simão; Victor Dos Santos Stange; Fernanda Mariano Garcia; Raquel Spinassé Dettogni; Elaine Stur; Adriana Madeira Álvares da Silva; Elizeu Fagundes de Carvalho; Leonor Gusmão; Iúri Drumond Louro

doi:10.1016/j.fsigen.2019.03.007

A view of the maternal inheritance of Espírito Santo populations: The contrast between the admixed and Pomeranian descent groups

Forensic Sci Int Genet. 2019 May:40:175-181. doi: 10.1016/j.fsigen.2019.03.007. Epub 2019 Mar 6.

Affiliations

¹ Núcleo de Genética Humana e Molecular (NGHM), Universidade Federal do Espírito Santo (UFES), Fernando Ferrari Avenue, 514 - Goiabeiras, Vitória, Espírito Santo, 29075-910, Brazil; Programa de Pós-Graduacão em Biotecnologia, Universidade Federal do Espírito Santo (UFES), Marechal Campos Avenue, 1468 - Bonfim, Vitória, Espírito Santo, 29047-105, Brazil.
² Laboratório de Diagnósticos por DNA (LDD), Universidade do Estado do Rio de Janeiro (UERJ), São Francisco Xavier Street, 524 - Maracanã, Rio de Janeiro, Rio de Janeiro, 20550-900, Brazil.
³ Núcleo de Genética Humana e Molecular (NGHM), Universidade Federal do Espírito Santo (UFES), Fernando Ferrari Avenue, 514 - Goiabeiras, Vitória, Espírito Santo, 29075-910, Brazil.
⁴ Programa de Pós-Graduacão em Biotecnologia, Universidade Federal do Espírito Santo (UFES), Marechal Campos Avenue, 1468 - Bonfim, Vitória, Espírito Santo, 29047-105, Brazil.
⁵ Laboratório de Diagnósticos por DNA (LDD), Universidade do Estado do Rio de Janeiro (UERJ), São Francisco Xavier Street, 524 - Maracanã, Rio de Janeiro, Rio de Janeiro, 20550-900, Brazil. Electronic address: leonorbgusmao@gmail.com.

PMID: 30878721
DOI: 10.1016/j.fsigen.2019.03.007

Abstract

In addition to its valuable utility in forensic investigations, mitochondrial DNA (mtDNA) analysis is a reliable tool to uncover the origins of admixed populations, such as Brazilians. The state of Espírito Santo (ES), similar to other coastal Brazilian states, has a population shaped by 3 main ancestral roots: Amerindian, African and European. Among the latter, the Pomeranian descendants stand out due to the preservation of the traditional aspects of their culture, especially the Pomeranian language. Despite the genetic data already available, there is no mtDNA database that adequately reflects the diversity, the geographic distribution, and the origins of the maternal lineages from ES. To increase the knowledge of maternal ancestry and to investigate the population's genetic stratification, a total of 291 samples were collected in the 4 macroregions (Metropolitan, South, Central and North) of ES and in the Pomeranian communities. Complete control region data were produced for the general (N=214) and Pomeranian (N=77) groups. Regarding the general population, the high values of haplotype diversity (H=99.9%) and pairwise differences (MNPD=16.9) found are in agreement with those reported for other populations in the southeast region of the country. Regarding maternal inheritance, the ES populations stood out due to the predominance of European haplogroups (49.5%), although the North macroregion had a higher African ancestry (47.1%). Among the Pomeranians, the lowest MNPD value (11.2) and the high percentage of shared haplotypes (15%) were indicative of founder events. The F_ST analysis showed that the Pomeranians (98.7% of European lineages) are genetically isolated from the other admixed populations in Brazil. This study demonstrated that the ES state contains singularities regarding the intrapopulational and interpopulational diversity of mtDNA. Even after 5 centuries of interethnic admixture, the present-day population of Espírito Santo harbors genetic marks that trace back to the historical aspects of its formation.

Keywords: Ancestry; Brazil; Macro-regions; Population stratification; mtDNA.

Publication types

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

MeSH terms

Brazil
DNA, Mitochondrial*
Electrophoresis, Capillary
Female
Genetics, Population*
Humans
Male
Maternal Inheritance*
Phylogeography
Polymerase Chain Reaction
Racial Groups / genetics
Sequence Analysis, DNA

Substances

DNA, Mitochondrial