[History of genetics in Brazil: a view from the Museu da Genética at the Universidade Federal do Rio Grande do Sul]. / História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul.

This work addresses the context of the creation, as well as the structure and contents, of the Museum of Genetics (Museu da Genética), created in 2011 and located in the Department of Genetics of the Federal University of Rio Grande do Sul (Universidade Federal do Rio Grande do Sul), in Porto Alegre, Brazil. The materials available at the Museum of Genetics are a rich resource for research on the history of genetics in Brazil (and especially the genetics of human populations) beginning with the second half of the twentieth century. Despite the prominence of the field of genetics in Brazil, little research has been done on this topic.

Implications of the admixture process in skin color molecular assessment.

The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.

História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul / History of genetics in Brazil: a view from the Museu da Genética at the Universidade Federal do Rio Grande do Sul

Aborda o contexto de criação do Museu da Genética, em 2011 no Departamento de Genética na Universidade Federal do Rio Grande do Sul, em Porto Alegre, e apresenta sua estrutura e conteúdo. Argumenta-se que os materiais disponibilizados no Museu da Genética constituem uma rica fonte para pesquisas sobre a história da genética no Brasil (e da genética de populações humanas em particular) a partir da segunda metade do século XX, tema ainda pouco investigado, apesar da proeminência dessa área do conhecimento no Brasil.

This work addresses the context of the creation, as well as the structure and contents, of the Museum of Genetics (Museu da Genética), created in 2011 and located in the Department of Genetics of the Federal University of Rio Grande do Sul (Universidade Federal do Rio Grande do Sul), in Porto Alegre, Brazil. The materials available at the Museum of Genetics are a rich resource for research on the history of genetics in Brazil (and especially the genetics of human populations) beginning with the second half of the twentieth century. Despite the prominence of the field of genetics in Brazil, little research has been done on this topic.