Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations

Due to their continuing geographic isolation, the Amerindian populations of the Brazilian Amazon present a different genetic profile when compared to other continental populations. Few studies have investigated genetic variants present in these populations, especially in the context of next-generati...

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Bibliographic Details
Published in:	Genes 2022-12, Vol.14 (1), p.53
Main Authors:	Cohen-Paes, Amanda, de Alcântara, Angélica Leite, de Souza Menezes, Elisa, Moreira, Fabiano Cordeiro, Fernandes, Marianne Rodrigues, Guerreiro, João Farias, Ribeiro-Dos-Santos, Ândrea, Dos Santos, Sidney Emanuel Batista, Santos, Ney Pereira Carneiro Dos
Format:	Article
Language:	eng
Subjects:	Bioinformatics Brazil - epidemiology Brazilian population continental populations Deoxyribonucleic acid DNA DNA biosynthesis DNA polymerase DNA polymerase genes DNA repair DNA-Binding Proteins DNA-directed DNA polymerase DNA-Directed DNA Polymerase - genetics Gene frequency Gene Frequency - genetics Genes Genetic diversity Genetic engineering genetic variants Genomes Humans Indigenous Minority & ethnic groups Mutation Next-generation sequencing Phenotypes Population genetics Population studies Precision medicine Quality of Life Recombination Research ethics
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Summary:	Due to their continuing geographic isolation, the Amerindian populations of the Brazilian Amazon present a different genetic profile when compared to other continental populations. Few studies have investigated genetic variants present in these populations, especially in the context of next-generation sequencing. Knowledge of the molecular profile of a population is one of the bases for inferences about human evolutionary history, in addition, it has the ability to assist in the validation of molecular biomarkers of susceptibility to complex and rare diseases, and in the improvement of specific precision medicine protocols applied to these populations and to populations with high Amerindian ancestry, such as Brazilians. DNA polymerases play essential roles in DNA replication, repair, recombination, or damage repair, and their influence on various clinical phenotypes has been demonstrated in the specialized literature. Thus, the aim of this study is to characterize the molecular profile of , , , , and genes in Amerindian populations from the Brazilian Amazon, comparing these findings with genomic data from five continental populations described in the gnomAD database, and with data from the Brazilian population described in ABraOM. We performed the whole exome sequencing (WES) of 63 Indigenous individuals. Our study described for the first time the allele frequency of 45 variants already described in the other continental populations, but never before described in the investigated Amerindian populations. Our results also describe eight unique variants of the investigated Amerindians populations, with predictions of moderate, modifier and high clinical impact. Our findings demonstrate the unique genetic profile of the Indigenous population of the Brazilian Amazon, reinforcing the need for further studies on these populations, and may contribute to the creation of public policies that optimize not only the quality of life of this population, but also of the Brazilian population.
ISSN:	2073-4425 2073-4425