Abstract
BackgroundThe 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.ResultsPrimary 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, FST 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.ConclusionsWe 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.
Highlights
The current Brazilian population is the product of centuries of admixture between intercontinental founding groups
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]
In conclusion, our data brings biological evidence to historical records stating the importance of intercontinental arrivals to Northeast Brazil since the colonial period
Summary
The current Brazilian population is the product of centuries of admixture between intercontinental founding groups. 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. Present-day Brazilians are the result of centuries of admixture between three main ethnic groups, namely Native. Besides Portuguese settlers, other European groups invaded or populated the country, such as Spanish, Dutch, French, English, Italian, German, Middle-Eastern and Japanese populations. Admixture processes between distinct ethnic groups began much earlier and intensively in the Northeast than in the rest of the country, which makes this an important region for investigating Brazil’s demographic history
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