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Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.
González-Buenfil, Ram; Vieyra-Sánchez, Sofía; Quinto-Cortés, Consuelo D; Oppenheimer, Stephen J; Pomat, William; Laman, Moses; Cervantes-Hernández, Mayté C; Barberena-Jonas, Carmina; Auckland, Kathryn; Allen, Angela; Allen, Stephen; Phipps, Maude E; Huerta-Sanchez, Emilia; Ioannidis, Alexander G; Mentzer, Alexander J; Moreno-Estrada, Andrés.
Afiliação
  • González-Buenfil R; Advanced Genomics Unit (UGA), Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav), Irapuato, Guanajuato, Mexico.
  • Vieyra-Sánchez S; Advanced Genomics Unit (UGA), Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav), Irapuato, Guanajuato, Mexico.
  • Quinto-Cortés CD; Advanced Genomics Unit (UGA), Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav), Irapuato, Guanajuato, Mexico.
  • Oppenheimer SJ; School of Anthropology, University of Oxford, Oxford, UK.
  • Pomat W; Vector-Borne Diseases Unit, Papua New Guinea Institute of Medical Research, Madang, Papua New Guinea.
  • Laman M; Vector-Borne Diseases Unit, Papua New Guinea Institute of Medical Research, Madang, Papua New Guinea.
  • Cervantes-Hernández MC; Advanced Genomics Unit (UGA), Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav), Irapuato, Guanajuato, Mexico.
  • Barberena-Jonas C; Advanced Genomics Unit (UGA), Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav), Irapuato, Guanajuato, Mexico.
  • Auckland K; The Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Allen A; Department of Molecular Haematology, MRC Weatherall Institute of Molecular Medicine, Headley Way, Headington, Oxford, OX3 9DS, UK.
  • Allen S; Department of Clinical Sciences,Liverpool School of Tropical Medicine, Pembroke Place, Liverpool, L3 5QA, UK.
  • Phipps ME; Jeffrey Cheah School of Medicine and Health Sciences, Monash University Malaysia, Subang Jaya 47500, Selangor, Malaysia.
  • Huerta-Sanchez E; Center for Computational Molecular Biology, Brown University, Providence, RI 02912, USA.
  • Ioannidis AG; Department of Ecology, Evolution and Organismal Biology, Brown University, Providence, RI 02912, USA.
  • Mentzer AJ; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
  • Moreno-Estrada A; Department of Biomedical Data Science, Stanford Medical School, Stanford, CA, USA.
Genome Biol Evol ; 16(8)2024 Aug 05.
Article em En | MEDLINE | ID: mdl-39173139
ABSTRACT
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 (SAA4, SAA1, PRDX1, LDHA) as well as candidate genes of the Notch signaling pathway (PSEN1, NUMB, RBPJ, MAML3), 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-DQB1, HLA-DQA2, TAAR6, TAAR9, TAAR8, RNASE4, RNASE6, ANG). 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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Seleção Genética / Altitude Limite: Humans Idioma: En Revista: Genome Biol Evol Assunto da revista: BIOLOGIA / BIOLOGIA MOLECULAR Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Seleção Genética / Altitude Limite: Humans Idioma: En Revista: Genome Biol Evol Assunto da revista: BIOLOGIA / BIOLOGIA MOLECULAR Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Reino Unido