Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea

Artículo

 

Te invitamos a leer el artículo "Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea" publicado en Genome Biology and Evolution (GBE), a cargo del profesor investigador Dr. Andrés Moreno y su equipo de trabajo de la UGA.

Autores: Ram González-Buenfil / Sofía Vieyra-Sánchez / Consuelo D Quinto-Cortés / Stephen J Oppenheimer / William Pomat / Moses Laman / Mayté C Cervantes-Hernández / Carmina Barberena-Jonas / Kathryn Auckland / Angela Allen / Stephen Allen / Maude E Phipps / Emilia Huerta-Sanchez / Alexander G Ioannidis / Alexander J Mentzer / Andrés Moreno-Estrada.

  1. Human Evolutionary and Population Genomics Lab, Unidad de Genómica Avanzada (UGA). México, Cinvestav, Mexico

  2. School of Anthropology, University of Oxford, United Kingdom

  3. Institute of Medical Research, Papua New Guinea

  4. The Centre for Human Genetics, University of Oxford, United Kingdom

  5. Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom

  6. Department of Clinical Sciences,Liverpool School of Tropical Medicine, United Kingdom

  7. Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Malaysia

  8. Center for Computational Molecular Biology, Brown University, USA

  9. Department of Biomedical Data Science, Stanford Medical School, USA  

Felicitamos al estudiantado y profesorado que contribuyeron en esta investigación por su arduo trabajo.

Summary:

Papua New Guinea (PNG) hosts distinct environments mainly represented by the ecoregions of the Highlands and Lowlands that display increased altitude and a predominance of pathogens, respectively. Since its initial peopling approximately 50,000 years ago, inhabitants of these ecoregions might have differentially adapted to the environmental pressures exerted by each of them. However, the genetic basis of adaptation in populations from these areas remains understudied. Here, we investigated signals of positive selection in 62 highlanders and 43 lowlanders across 14 locations in the main island of PNG using whole-genome genotype data from the Oceanian Genome Variation Project (OGVP) and searched for signals of positive selection through population differentiation and haplotype-based selection scans. Additionally, we performed archaic ancestry estimation to detect selection signals in highlanders within introgressed regions of the genome. Among highland populations we identified candidate genes representing known biomarkers for mountain sickness (SAA4SAA1PRDX1LDHA) as well as candidate genes of the Notch signaling pathway (PSEN1NUMBRBPJMAML3), a novel proposed pathway for high altitude adaptation in multiple organisms. We also identified candidate genes involved in oxidative stress, inflammation, and angiogenesis, processes inducible by hypoxia, as well as in components of the eye lens and the immune response. In contrast, candidate genes in the lowlands are mainly related to the immune response (HLA-DQB1HLA-DQA2TAAR6TAAR9TAAR8RNASE4RNASE6ANG). Moreover, we find two candidate regions to be also enriched with archaic introgressed segments, suggesting that archaic admixture has played a role in the local adaptation of PNG populations.


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11/11/2024 01:41:23 p. m.