André, Mathilde, Brucato, Nicolas, Hudjasov, Georgi, Pankratov, Vasili, Yermakovich, Danat, Montinaro, Francesco, Kreevan, Rita, Kariwiga, Jason, Muke, John, Boland, Anne, Deleuze, Jean-François, Meyer, Vincent, Evans, Nicholas, Cox, Murray P., Leavesley, Matthew, Dannemann, Michael, Org, Tõnis, Metspalu, Mait, Mondal, Mayukh, and Ricaut, François-Xavier (2024) Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels. Nature Communications, 15. 3352.

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Abstract

Highlanders and lowlanders of Papua New Guinea have faced distinct environmental stress, such as hypoxia and environment-specific pathogen exposure, respectively. In this study, we explored the top genomics regions and the candidate driver SNPs for selection in these two populations using newly sequenced whole-genomes of 54 highlanders and 74 lowlanders. We identified two candidate SNPs under selection - one in highlanders, associated with red blood cell traits and another in lowlanders, which is associated with white blood cell count – both potentially influencing the heart rate of Papua New Guineans in opposite directions. We also observed four candidate driver SNPs that exhibit linkage disequilibrium with an introgressed haplotype, highlighting the need to explore the possibility of adaptive introgression within these populations. This study reveals that the signatures of positive selection in highlanders and lowlanders of Papua New Guinea align closely with the challenges they face, which are specific to their environments.

Item ID:	85292
Item Type:	Article (Research - C1)
ISSN:	2041-1723
Copyright Information:	This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
Date Deposited:	30 Apr 2025 01:26
FoR Codes:	31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 80% 31 BIOLOGICAL SCIENCES > 3104 Evolutionary biology > 310499 Evolutionary biology not elsewhere classified @ 20%
SEO Codes:	20 HEALTH > 2099 Other health > 209999 Other health not elsewhere classified @ 50% 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280102 Expanding knowledge in the biological sciences @ 50%
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