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The genetic structure and adaptation of Andean highlanders and Amazonians are influenced by the interplay between geography and culture

Borda, Víctor, Alvim, Isabela, Mendes, Marla, Silva-Carvalho, Carolina, Soares-Souza, Giordano B., Leal, Thiago P., Furlan, Vinicius, Scliar, Marilia O., Zamudio, Roxana, Zolini, Camila, Araújo, Gilderlanio S., Luizon, Marcelo R., Padilla, Carlos, Cáceres, Omar, Levano, Kelly, Sánchez, César, Trujillo, Omar, Flores-Villanueva, Pedro O., Dean, Michael, Fuselli, Silvia, Machado, Moara, Romero, Pedro E., Tassi, Francesca, Yeager, Meredith, O’Connor, Timothy D., Gilman, Robert H., Tarazona-Santos, Eduardo, Guio, Heinner·2020·Proceedings of the National Academy of Sciences

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Abstract

Significance: Native Americans are neglected in human genetics studies, despite recent interest in the study of ancient DNA of their ancestors. Our findings on Andean and Amazonian populations exemplify how the current pattern of genetic diversity in human populations is influenced by the interaction of history and environment. In the present case, this pattern is influenced by 1) altitudinal and climatic differences among the northern, lower, and fertile Andes versus the southern, higher, and arid Andes and 2) the sharp differences between the Andean highlands and the Amazon lowlands, where natural selection and other evolutionary forces acted for millennia, shaping differences in the frequencies of genetic variants related to immune response, drug response, and cardiovascular and hematological functions.

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Crossref · 10.1073/pnas.2013773117

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  • Despite harsh environments, the humid montane forests were important pre-Columbian cultural crossroads, and it is therefore likely that areas within the major valleys connecting the lowlands and highlands may have been occupational centres for millennia.

    “Despite these harsh environments, the humid montane forests were important pre-Columbian cultural crossroads, and it is therefore likely that areas within the major valleys connecting the lowlands and highlands may have been occupational centres for millennia [21,35].”

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Metadata

Authors
Borda, V., Alvim, I., Mendes, M., Silva-Carvalho, C., Soares-Souza, G. B., Leal, T. P., Furlan, V., Scliar, M. O., Zamudio, R., Zolini, C., Araújo, G. S., Luizon, M. R., Padilla, C., Cáceres, O., Levano, K., Sánchez, C., Trujillo, O., Flores-Villanueva, P. O., Dean, M., Fuselli, S., Machado, M., Romero, P. E., Tassi, F., Yeager, M., O’Connor, T. D., Gilman, R. H., Tarazona-Santos, E., & Guio, H.
Affiliations
  • Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, 31270-901, Brazil;
  • Laboratório de Genética Humana e Médica, Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Pará, Belém, PA, 66075-110, Brazil;
  • Laboratorio de Biotecnología y Biología Molecular, Instituto Nacional de Salud, Lima 9, Peru;
  • Centro Nacional de Salud Intercultural, Instituto Nacional de Salud, Lima 11, Peru;
  • Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892;
  • Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy;
  • Universidad Peruana Cayetano Heredia, Lima 31, Peru;
  • Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201;
Venue
Proceedings of the National Academy of Sciences
Published
2020-12-04
Volume
117
Issue
51
Pages
32557-32565
ISSN
  • 0027-8424
  • 1091-6490
Cited by
54
References
10
Language
en

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