Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations

被引:0
作者
Ferraretti, Giulia [1 ,2 ]
Rill, Aina [1 ,2 ,15 ]
Abondio, Paolo [3 ,16 ]
Smith, Kyra [1 ,2 ]
Ojeda-Granados, Claudia [1 ,2 ,17 ]
De Fanti, Sara [4 ]
Alberti, Marta [1 ,2 ]
Izzi, Massimo [5 ]
Sherpa, Phurba T. [6 ]
Cocco, Paolo [7 ]
Tiriticco, Massimiliano [7 ]
Di Marcello, Marco [7 ]
Dezi, Agnese [8 ]
Gnecchi-Ruscone, Guido Alberto [9 ,18 ,19 ]
Natali, Luca [7 ,10 ]
Corcelli, Angela [11 ]
Marinelli, Giorgio [7 ]
Garagnani, Paolo [12 ,13 ]
Peluzzi, Davide [7 ]
Luiselli, Donata [3 ]
Pettener, Davide [1 ,2 ]
Sarno, Stefania [1 ,2 ]
Sazzini, Marco [1 ,2 ,14 ]
机构
[1] Univ Bologna, Lab Mol Anthropol, Bologna, Italy
[2] Univ Bologna, Ctr Genome Biol, Dept Biol Geol & Environm Sci, Bologna, Italy
[3] Univ Bologna, Dept Cultural Heritage, Ravenna Campus, Ravenna, Italy
[4] IRCCS Ist Sci Neurolog Bologna, Bologna, Italy
[5] Univ Bologna, Dept Med & Surg Sci, Complex Operat Unit Endocrinol & Diabet Care, Bologna, Italy
[6] Mt Everest Summiters Club, Dolakha, Nepal
[7] Explora Nunaat Int, Teramo, Italy
[8] Univ Bari Aldo Moro, Dept Precis & Regenerat Med & Ionian Area, Bari, Italy
[9] Max Planck Inst Evolutionary Anthropol, Dept Archaeogenet, Leipzig, Germany
[10] Italian Inst Human Paleontol, Rome, Italy
[11] Univ Bari Aldo Moro, Dept Translat Biomed & Neurosci, Bari, Italy
[12] IRCCS Azienda Ospedaliero Univ Bologna, Bologna, Italy
[13] Univ Bologna, Dept Med & Surg Sci, Bologna, Italy
[14] Univ Bologna, Interdept Ctr Alma Mater Res Inst Global Changes &, Bologna, Italy
[15] Univ Barcelona, Josep Carreras Leukaemia Res Inst, PhD Programme Biomed, Barcelona, Spain
[16] Univ Roma Tor Vergata, Dept Biol, Rome, Italy
[17] Univ Catania, Dept Med & Surg Sci & Adv Technol GF Ingrassia, Catania, Italy
[18] Univ Tubingen, Inst Archaeol Sci, Dept Geosci, Archaeo & Palaeogenet, Tubingen, Germany
[19] Univ Tubingen, Senckenberg Ctr Human Evolut & Palaeoenvironm, Tubingen, Germany
关键词
HEMOGLOBIN CONCENTRATION; SELECTIVE SWEEPS; GROWTH; EXPRESSION; TIBETAN; KINASE; LAMC2; ADAPTATION; MUTATIONS; GENETICS;
D O I
10.1038/s42003-025-07813-6
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Convergent adaptations represent paradigmatic examples of the capacity of natural selection to influence organisms' biology. However, the possibility to investigate the genetic determinants underpinning convergent complex adaptive traits has been offered only recently by methods for inferring polygenic adaptations from genomic data. Relying on this approach, we demonstrate how high-altitude Andean human groups experienced pervasive selective events at angiogenic pathways, which resemble those previously attested for Himalayan populations despite partial convergence at the single-gene level was observed. This provides additional evidence for the drivers of convergent evolution of enhanced blood perfusion in populations exposed to hypobaric hypoxia for thousands of years.
引用
收藏
页数:10
相关论文
共 91 条
  • [1] Molecular regulation of angiogenesis and lymphangiogenesis
    Adams, Ralf H.
    Alitalo, Kari
    [J]. NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2007, 8 (06) : 464 - 478
  • [2] Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
    Alavi, Marcel V.
    Mao, Mao
    Pawlikowski, Bradley T.
    Kvezereli, Manana
    Duncan, Jacque L.
    Libby, Richard T.
    John, Simon W. M.
    Gould, Douglas B.
    [J]. SCIENTIFIC REPORTS, 2016, 6
  • [3] Fast model-based estimation of ancestry in unrelated individuals
    Alexander, David H.
    Novembre, John
    Lange, Kenneth
    [J]. GENOME RESEARCH, 2009, 19 (09) : 1655 - 1664
  • [4] Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations
    Arciero, Elena
    Kraaijenbrink, Thirsa
    Asan
    Haber, Marc
    Mezzavilla, Massimo
    Ayub, Qasim
    Wei Wang
    Zhaxi Pingcuo
    Yang, Huanming
    Jian Wang
    Jobling, Mark A.
    van Driem, George
    Xue, Yali
    de Knijff, Peter
    Tyler-Smith, Chris
    [J]. MOLECULAR BIOLOGY AND EVOLUTION, 2018, 35 (08) : 1916 - 1933
  • [5] BAKER J, 1993, CELL, V75, P73, DOI 10.1016/0092-8674(93)90680-O
  • [6] Parallel evolution in human populations: A biocultural perspective
    Balentine, Christina M.
    Bolnick, Deborah A.
    [J]. EVOLUTIONARY ANTHROPOLOGY, 2022, 31 (06): : 302 - 316
  • [7] Placenta Accreta Spectrum: A Review of Pathology, Molecular Biology, and Biomarkers
    Bartels, Helena C.
    Postle, James D.
    Downey, Paul
    Brennan, Donal J.
    [J]. DISEASE MARKERS, 2018, 2018
  • [8] Beall CM, 1998, AM J PHYS ANTHROPOL, V106, P385, DOI 10.1002/(SICI)1096-8644(199807)106:3<385::AID-AJPA10>3.3.CO
  • [9] 2-6
  • [10] Two routes to functional adaptation: Tibetan and Andean high-altitude natives
    Beall, Cynthia M.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 : 8655 - 8660