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Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes

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Author(s):
Kimura, Lilian ; Nunes, Kelly ; Ines Macedo-Souza, Lucia ; Rocha, Jorge ; Meyer, Diogo ; Mingroni-Netto, Regina Celia
Total Authors: 6
Document type: Journal article
Source: AMERICAN JOURNAL OF HUMAN BIOLOGY; v. 29, n. 2, p. 11-pg., 2017-03-01.
Abstract

Objectives: Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns with European and Native Americans. We combine a genetic study of Y-chromosome markers with anthropological surveys in order to obtain a portrait of quilombo structure and history in the region that has the largest number of quilombo remnants in the state of Sao Paulo. Methods: Samples from 289 individuals from quilombo remnants were genotyped using a set of 17 microsatellites on the Y chromosome ( AmpFlSTR-Yfiler). A subset of 82 samples was also genotyped using SNPs array ( Axiom Human Origins-Affymetrix). We estimated haplotype and haplogroup frequencies, haplotype diversity and sharing, and pairwise genetic distances through F-ST and R-ST indexes. Results: We identified 95 Y chromosome haplotypes, classified into 15 haplogroups. About 63% are European, 32% are African, and 6% Native American. The most common were: R1b ( European, 34.2%), E1b1a ( African, 32.3%), J1 ( European, 6.9%), and Q ( Native American, 6.2%). Genetic differentiation among communities was low ( F-ST = 0.0171; R-ST = 0.0161), and haplotype sharing was extensive. Genetic, genealogical and oral surveys allowed us to detect five main founder haplotypes, which explained a total of 27.7% of the Y chromosome lineages. Conclusions: Our results showed a high European patrilineal genetic contribution among the founders of quilombos, high amounts of gene flow, and a recent common origin of these populations. Common haplotypes and genealogical data indicate the origin of quilombos from a few male individuals. Our study reinforces the importance of a dual approach, involving the analysis of both anthropological and genetic data. (AU)

FAPESP's process: 98/14254-2 - The Human Genome Research Center
Grantee:Mayana Zatz
Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
FAPESP's process: 12/18010-0 - Balancing selection in the human genome: detection, causes and consequences
Grantee:Diogo Meyer
Support Opportunities: Regular Research Grants
FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
FAPESP's process: 12/09950-9 - Evolution of HLA genes: population differentiation and signatures of recent selection in native and admixed populations from Brazil
Grantee:Kelly Nunes
Support Opportunities: Scholarships in Brazil - Post-Doctoral