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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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Autores principales: 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, dos Santos, Ney Pereira Carneiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859017/
https://www.ncbi.nlm.nih.gov/pubmed/36672794
http://dx.doi.org/10.3390/genes14010053
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author 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
dos Santos, Ney Pereira Carneiro
author_facet 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
dos Santos, Ney Pereira Carneiro
author_sort Cohen-Paes, Amanda
collection PubMed
description 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 POLA1, POLE, POLG, POLQ, and REV3L 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.
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spelling pubmed-98590172023-01-21 Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations 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 dos Santos, Ney Pereira Carneiro Genes (Basel) Article 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 POLA1, POLE, POLG, POLQ, and REV3L 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. MDPI 2022-12-24 /pmc/articles/PMC9859017/ /pubmed/36672794 http://dx.doi.org/10.3390/genes14010053 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
dos Santos, Ney Pereira Carneiro
Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title_full Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title_fullStr Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title_full_unstemmed Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title_short Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations
title_sort characterization of dna polymerase genes in amazonian amerindian populations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859017/
https://www.ncbi.nlm.nih.gov/pubmed/36672794
http://dx.doi.org/10.3390/genes14010053
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