Selection scan reveals three new loci related to high altitude adaptation in Native Andeans

Author(s)

Jacovas, Vanessa C. ^[1] ; Couto-Silva, Caina M. ^[2] ; Nunes, Kelly ^[2] ; Lemes, Renan B. ^[2] ; de Oliveira, Marcelo Z. ^[3] ; Salzano, Francisco M. ^[1] ; Bortolini, Maria Catira ^[1] ; Hunemeier, Tabita ^[2]

Affiliation

^[1] Univ Fed Rio Grande do Sul, Biosci Inst, Genet Dept, Porto Alegre, RS - Brazil

^[2] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo, SP - Brazil

^[3] Vale do Rio dos Sinos Univ, Sao Leopoldo, RS - Brazil

• Document type: Journal article
• Source: SCIENTIFIC REPORTS; v. 8, AUG 24 2018.
• Web of Science Citations: 1

Abstract

The Andean Altiplano has been occupied continuously since the late Pleistocene, similar to 12,000 years ago, which places the Andean natives as one of the most ancient populations living at high altitudes. In the present study, we analyzed genomic data from Native Americans living a long-time at Andean high altitude and at Amazonia and Mesoamerica lowland areas. We have identified three new candidate genes - SP100, DUOX2 and CLC - with evidence of positive selection for altitude adaptation in Andeans. These genes are involved in the TP53 pathway and are related to physiological routes important for high-altitude hypoxia response, such as those linked to increased angiogenesis, skeletal muscle adaptations, and immune functions at the fetus-maternal interface. Our results, combined with other studies, showed that Andeans have adapted to the Altiplano in different ways and using distinct molecular strategies as compared to those of other natives living at high altitudes. (AU)

• FAPESP's process: 15/26875-9 - Native American genome diversity
• Grantee: Tábita Hünemeier
• Support type: Research Grants - Young Investigators Grants