Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

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, Amantan...

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Published in:PloS one 2015-09, Vol.10 (9), p.e0137823-e0137823
Main Authors: Jacovas, Vanessa Cristina, Rovaris, Diego Luiz, Peréz, Orlando, de Azevedo, Soledad, Macedo, Gabriel Souza, Sandoval, José Raul, Salazar-Granara, Alberto, Villena, Mercedes, Dugoujon, Jean-Michel, Bisso-Machado, Rafael, Petzl-Erler, Maria Luiza, Salzano, Francisco Mauro, Ashton-Prolla, Patricia, Ramallo, Virginia, Bortolini, Maria Cátira
Format: Article
Language:English
Subjects:
Acclimatization - genetics
Adaptation
Alleles
Altitude
American Indians
Analysis
Apoptosis
Biological evolution
Cancer
Cell cycle
Colonization
Deoxyribonucleic acid
DNA
DNA repair
Genes
Genetic diversity
Genetic testing
Genetic variation
Genomes
Health aspects
High altitude
High-altitude environments
Humans
Hypoxia
Indians, North American - genetics
Lowlands
MDM2 protein
Metabolism
Minority & ethnic groups
Mitochondrial DNA
Native Americans
Native North Americans
p53 Protein
Polymorphism, Single Nucleotide
Populations
Proteins
Senescence
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Transcription factors
Tumor proteins
Tumor Suppressor Protein p53 - genetics
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0137823