mtDNA ancestry of Rio de Janeiro population, Brazil

Abstract

Polymorphism studies concerning HVI and HVII regions of mitochondrial DNA (mtDNA) have improved the understanding of the admixture genetic process related to the occupation of the continents by human population groups. We have analyzed the mtDNA lineages of 190 healthy and maternally unrelated individuals born in the metropolitan region of the Rio de Janeiro city, the capital of the State of Rio de Janeiro, southeastern Brazil. The data showing that 57.9, 25.3 and 16.8 % of the matrilineages found in Rio de Janeiro come from African, Amerindian and European population groups. They are, respectively, in close agreement with historical records which indicate that the admixture population of Brazil is the resulting of interethnic asymmetry crosses between individuals from those population groups. The high proportion of African mtDNA lineages in the population of Rio de Janeiro is in accordance with studies related to other Brazilian states.

Full mtDNA genome sequencing of Brazilian admixed populations: A forensic-focused evaluation of a MPS application as an alternative to Sanger sequencing methods

“…Most studies concentrating on Brazilian mitochondrial lines are limited to HV-I or HV-II sequence analysis, and therefore a more exhaustive analysis of results obtained in this study cannot be performed, especially concerning comparative evaluation of low-level mtDNA clades. However, the approximate frequencies of coarse haplogroup distribution mirrors previously reported results, with major AFR and NA contributions [25,28,[48][49][50][51][52][53][54][55]. Supplementary Figure S4 features a complete phylogenetic tree including all samples and variants observed in the present study.…”

“…EUR populations are located at the treetop, featuring the largest distance to the Brazilian sample set. It is important to highlight that these findings are supported by previously reported genetic, historical or ethnographic information, especially for the Brazilian case [18][19][20][21][22][23][24][25][48][49][50][51][52][53][54][55].…”

“…Table 1 presents coarse haplogroup frequencies found in 96 unrelated individuals from the Brazilian population. When considering haplogroup frequencies in our sample set, the results obtained in this study reflects the general distribution of maternal lineages in the Brazilian population with a significant preponderance of AFR and NA mitochondrial DNA [25,28,[48][49][50][51][52][53][54][55]. A significant gender bias and contribution imbalance has been reported for parental linages in the Brazilian population caused by a peculiar and uneven presence of EUR paternal lineages, along with elevated AFR and NA relative maternal contribution [21,[23][24][25].…”

Demographic history differences between Hispanics and Brazilians imprint haplotype features

“…Latinos showed substantial variability in European and, to a lesser extent, Native American ancestry (except within Puerto Ricans) among and within each population, while African ancestry presented moderate to negligible variability in all populations, except for Brazilians ( Supplementary Table 2 ). Of note, the mean and variance of markers outside the autosomes may diverge from the genomic landscape depicted here ( Risch et al 2009 ; Bryc et al 2010 ; McHugh et al 2016 ; Kehdy et al 2015 ), and genealogies of uniparental markers were shown to display genetic heterogeneity ( Alves-Silva et al 2000 ; Carvalho-Silva et al 2001 ; Pena et al 2009 ; Bernardo et al 2014 ).…”

Mitochondrial DNA abnormalities and metabolic syndrome

“…With its significantly higher mutation rate, mtDNA has been used as a powerful tool to trace the lineage. Methods have been developed to trace the ancestry of many species over hundreds of generations and have become a mainstay of phylogenetic and evolutionary biology (Bernardo et al, 2014). mtDNA is a circular DNA molecule that exists in multiple copies in each mitochondrion.…”