Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs

Oliveira, Andréa M.; Domingues, Patricia M.; Gomes, Verónica; Amorim, António; Jannuzzi, Juliana; Carvalho, E.F.; Gusmão, Leonor

doi:10.1016/j.fsigen.2014.08.017

Cited by 15 publications

(20 citation statements)

References 40 publications

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“…The homogenous distribution of European haplogroups in Northeastern Brazil showed by our results is expected in this region of the country due to historical reports and previous local data (7,9). A greater European component of paternal lineages is also the case for the other geopolitical regions of Brazil, which is a demonstration of the colonization patterns in this territory (7,10,11,14,(25)(26)(27). The investigation of subtypes of these deep-rooted haplogroups was important for elucidating the origin of foreign settlers that have historically contributed to the formation of the Brazilian gene pool, given that historical records describe intense migratory movements of diverse populations in this region since the colonial period (1).…”

Section: Discussionsupporting

confidence: 81%

New insights on intercontinental origins of paternal lineages in Northeast Brazil

et al. 2020

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Background: The current Brazilian population is the product of centuries of admixture between intercontinental founding groups. Although previous results have revealed a heterogeneous distribution of mitochondrial lineages in the Northeast region, the most targeted by foreign settlers during the sixteenth century, little is known about the paternal ancestry of this particular population. Considering historical records have documented a series of territorial invasions in the Northeast by various European populations, we aimed to characterize the male lineages found in Brazilian individuals in order to discover to what extent these migrations have influenced the present-day gene pool. Our approach consisted of employing four hierarchical multiplex assays for the investigation of 45 unique event polymorphisms in the non-recombining portion of the Y-chromosome of 280 unrelated men from several Northeast Brazilian states. Results: Primary multiplex results allowed the identification of six major haplogroups, four of which were screened for downstream SNPs and enabled the observation of 19 additional lineages. Results reveal a majority of Western European haplogroups, among which R1b-S116* was the most common (63.9%), corroborating historical records of colonizations by Iberian populations. Nonetheless, F ST genetic distances show similarities between Northeast Brazil and several other European populations, indicating multiple origins of settlers. Regarding Native American ancestry, our findings confirm a strong sexual bias against such haplogroups, which represented only 2.5% of individuals, highly contrasting previous results for maternal lineages. Furthermore, we document the presence of several Middle Eastern and African haplogroups, supporting a complex historical formation of this population and highlighting its uniqueness among other Brazilian regions. Conclusions: We performed a comprehensive analysis of the major Y-chromosome lineages that form the most dynamic migratory region from the Brazilian colonial period. This evidence suggests that the ongoing entry of European, Middle Eastern, and African males in the Brazilian Northeast, since at least 500 years, was significantly responsible for the present-day genetic architecture of this population.

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Section: Discussionsupporting

confidence: 81%

New insights on intercontinental origins of paternal lineages in Northeast Brazil

et al. 2020

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“…When using genetic markers with low mutation rates and different inheritance patterns, a clear heterogeneity can be observed in the genetic contribution of each parental population to the different geopolitical regions of the country as a result of diverse colonization histories [ 6 – 8 ]. However, the ability to detect heterogeneity considerably decreases when markers with high mutation rates are investigated because this type of polymorphism is much more prone to detecting differentiation within rather than between populations [ 9 – 11 ].…”

Section: Introductionmentioning

confidence: 99%

“…Due to the high mutation rate of the Y-STRs and the predominant European male contribution to the Brazilian population, most studies based on the analysis of Y-STRs have failed to detect statistically significant differences between admixed populations in the country [ 9 – 11 ]. In the largest study performed until now on the Y-STR haplotype distribution in Brazilian populations, Palha et al [ 10 ] also failed to detect the substructure for 23 Y-STR loci in more than 2,000 Y chromosomes in 17 different admixed populations from the five regions of the country.…”

Section: Introductionmentioning

confidence: 99%

Male Lineages in Brazil: Intercontinental Admixture and Stratification of the European Background

et al. 2016

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The non-recombining nature of the Y chromosome and the well-established phylogeny of Y-specific Single Nucleotide Polymorphisms (Y-SNPs) make them useful for defining haplogroups with high geographical specificity; therefore, they are more apt than the Y-STRs to detect population stratification in admixed populations from diverse continental origins. Different Y-SNP typing strategies have been described to address issues of population history and movements within geographic territories of interest. In this study, we investigated a set of 41 Y-SNPs in 1217 unrelated males from the five Brazilian geopolitical regions, aiming to disclose the genetic structure of male lineages in the country. A population comparison based on pairwise FST genetic distances did not reveal statistically significant differences in haplogroup frequency distributions among populations from the different regions. The genetic differences observed among regions were, however, consistent with the colonization history of the country. The sample from the Northern region presented the highest Native American ancestry (8.4%), whereas the more pronounced African contribution could be observed in the Northeastern population (15.1%). The Central-Western and Southern samples showed the higher European contributions (95.7% and 93.6%, respectively). The Southeastern region presented significant European (86.1%) and African (12.0%) contributions. The subtyping of the most frequent European lineage in Brazil (R1b1a-M269) allowed differences in the genetic European background of the five Brazilian regions to be investigated for the first time.

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“…Obtaining the profile of the victims and the DNA markers of both victims and offenders constitute an important input to identify hotspots of the crime and design strategies in a way to prevent its recurrence [2][3][4]. Due to the lack of this type of studies in Northeastern Brazil population, a preliminary analysis of rape cases that occurred in Pernambuco between 2012 and 2014 is presented herein, where DNA genotyping is used for human identification.…”

Section: Introductionmentioning

confidence: 99%

DNA genotyping analysis overview: Profile of rape cases in the state of Pernambuco, Brazil

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et al. 2015

Forensic Science International: Genetics Supplement Series

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Identification of perpetrators is crucial in criminal investigations, mainly in rape cases. Analysis of the area, victims' profile, as well as genotyping DNA markers from rapists may help to determine hotspots of the crime, in a way to prevent its recurrence. Herein, we report for the first time in Northeastern Brazil a preliminary genetic data analyses from rape cases that occurred in Pernambuco between 2012 and 2014. Moreover, the distribution of the cases, as well as a general profile of the victims were analyzed from official reports of Laboratório de Perícia e Pesquisa em Genética Forense (LPPGF-PE). The results showed that 62% of the cases are mainly located in the metropolitan area of Pernambuco. Eighty-eight percent of the victims were females and 37% were under age. Allele frequency was determined by at least 15 STRs and, in some cases, by Y-STRs and InDel markers. This study may contribute to the elucidation of rape crime investigation in the future.

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Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs

Cited by 15 publications

References 40 publications

New insights on intercontinental origins of paternal lineages in Northeast Brazil

New insights on intercontinental origins of paternal lineages in Northeast Brazil

Male Lineages in Brazil: Intercontinental Admixture and Stratification of the European Background

DNA genotyping analysis overview: Profile of rape cases in the state of Pernambuco, Brazil

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