Please use this identifier to cite or link to this item: http://ds.saudeindigena.icict.fiocruz.br/handle/bvs/1109
Title: Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes
Authors: Jacovas, Vanessa Cristina
Rovaris, Diego Luiz
Peréz, Orlando
Azevedo, Soledad de
Macedo, Gabriel Souza
Sandoval, José Raul
Salazar-Granara, Alberto
Villena, Mercedes
Dugoujon, Jean-Michel
Bisso-Machado, Rafael
Petzl-Erler, Maria Luiza
Salzano, Francisco M.
Ashton-Prolla, Patricia
Ramallo, Virginia
Bortolini, Maria Cátira
Affilliation: Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil
Consejo Nacional de Investigaciones Científicas y Tecnológicas - CONICET. Puerto Madryn, Argentina
Consejo Nacional de Investigaciones Científicas y Tecnológicas - CONICET. Puerto Madryn, Argentina
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil
Facultad de Medicina Humana. Universidad de San Martin de Porres. Lima, Peru
Facultad de Medicina Humana. Universidad de San Martin de Porres. Lima, Peru
Universidad Mayor de San Andres. Instituto Boliviano de Biología de Altura. La Paz, Bolívia
Université Paul Sabatier Toulouse III. Anthropologie Moléculaire et Imagerie de Synthèse. Toulouse, France
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil
Universidade Federal do Paraná. Departamento de Genética. Laboratório de Genética Molecular. Curitiba, PR, Brasil.
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil /
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Medica. Porto Alegre, RS, Brasil
Consejo Nacional de Investigaciones Científicas y Tecnológicas - CONICET. Puerto Madryn, Argentina
Universidade Federal do Rio Grande do Sul. Instituto de Biociências. Departamento de Genética. Porto Alegre, RS Brasil
Abstract: The diversity of the five single nucleotide polymorphisms located in genes of the TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied in a total of 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, and Guarani Kaiowá populations, characterized as Native American or as having a high level (> 90%) of Native American ancestry. In addition, published data pertaining to 100 persons from five other Native American populations (Surui, Karitiana, Maya, Pima, and Piapoco) were analyzed. The populations were classified as living in high altitude (≥ 2,500 m) or in lowlands (< 2,500 m). Our analyses revealed that alleles USP7-G, LIF-T, and MDM2-T showed significant evidence that they were selected for in relation to harsh environmental variables related to high altitudes. Our results show for the first time that alleles of classical TP53 network genes have been evolutionary co-opted for the successful human colonization of the Andes.
Keywords: Índios Sul-Americanos
Saúde de Populações Indígenas
Genética Populacional
Proteínas Proto-Oncogênicas c-mdm2
DeCS: Índios Sul-Americanos
Saúde de Populações Indígenas
Genética Populacional
Genética Humana
Proteínas Proto-Oncogênicas c-mdm2
Issue Date: 2015
Publisher: PLOS
Citation: JACOVAS, Vane. et al. Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes. Plos One, v. 10, n. 9, p. 1-15, 2015.
metadata.dc.identifier.doi: 10.1371/journal.pone.0137823
ISSN: 1932-6203
Copyright: open access
Appears in Collections:GH - Artigos de Periódicos

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