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

来源：

COMMUNICATIONS BIOLOGY | 2025年 / 8卷 / 01期

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

页数：10

共 91 条

[31] King of the Mountains: Tibetan and Sherpa Physiological Adaptations for Life at High Altitude
Gilbert-Kawai, Edward T.
Milledge, James S.
Grocott, Michael P. W.
Martin, Daniel S.
[J]. PHYSIOLOGY, 2014, 29 (06) : 388 - 402
[32] Evidence of Polygenic Adaptation to High Altitude from Tibetan and Sherpa Genomes
Gnecchi-Ruscone, Guido A.
Abondio, Paolo
De Fanti, Sara
Sarno, Stefania
Sherpa, Mingma G.
Sherpa, Phurba T.
Marinelli, Giorgio
Natali, Luca
Di Marcello, Marco
Peluzzi, Davide
Luiselli, Donata
Pettener, Davide
Sazzini, Marco
[J]. GENOME BIOLOGY AND EVOLUTION, 2018, 10 (11): : 2919 - 2930
[33] Dissecting the Pre-Columbian Genomic Ancestry of Native Americans along the Andes-Amazonia Divide
Gnecchi-Ruscone, Guido Alberto
Sarno, Stefania
De Fanti, Sara
Gianvincenzo, Laura
Giuliani, Cristina
Boattini, Alessio
Bortolini, Eugenio
Di Corcia, Tullia
Sanchez Mellado, Cesar
Davila Francia, Taylor Jesus
Gentilini, Davide
Di Blasio, Anna Maria
Di Cosimo, Patrizia
Cilli, Elisabetta
Gonzalez-Martin, Antonio
Franceschi, Claudio
Franceschi, Zelda Alice
Rickards, Olga
Sazzini, Marco
Luiselli, Donata
Pettener, Davide
[J]. MOLECULAR BIOLOGY AND EVOLUTION, 2019, 36 (06) : 1254 - 1269
[34] Relaxin, Its Receptor (RXFP1), and Insulin-Like Peptide 4 Expression Through Gestation and in Placenta Accreta
Goh, William
Yamamoto, Sandra Y.
Thompson, Karen S.
Bryant-Greenwood, Gillian D.
[J]. REPRODUCTIVE SCIENCES, 2013, 20 (08) : 968 - 980
[35] Acute mountain sickness, arterial oxygen saturation and heart rate among Tibetan students who reascend to Lhasa after 7 years at low altitude: a prospective cohort study
Gonggalanzi
Labasangzhu
Bjertness, Espen
Wu, Tianyi
Stigum, Hein
Nafstad, Per
[J]. BMJ OPEN, 2017, 7 (07):
[36] Detecting gene subnetworks under selection in biological pathways
Gouy, Alexandre
Daub, Josephine T.
Excoffier, Laurent
[J]. NUCLEIC ACIDS RESEARCH, 2017, 45 (16)
[37] A Likelihood Approach for Uncovering Selective Sweep Signatures from Haplotype Data
Harris, Alexandre M.
DeGiorgio, Michael
[J]. MOLECULAR BIOLOGY AND EVOLUTION, 2020, 37 (10) : 3023 - 3046
[38] Classic Selective Sweeps Were Rare in Recent Human Evolution
Hernandez, Ryan D.
Kelley, Joanna L.
Elyashiv, Eyal
Melton, S. Cord
Auton, Adam
McVean, Gilean
Sella, Guy
Przeworski, Molly
[J]. SCIENCE, 2011, 331 (6019) : 920 - 924
[39] Evolutionary history of Tibetans inferred from whole-genome sequencing
Hu, Hao
Petousi, Nayia
Glusman, Gustavo
Yu, Yao
Bohlender, Ryan
Tashi, Tsewang
Downie, Jonathan M.
Roach, Jared C.
Cole, Amy M.
Lorenzo, Felipe R.
Rogers, Alan R.
Brunkow, Mary E.
Cavalleri, Gianpiero
Hood, Leroy
Alpatty, Sama M.
Prchal, Josef T.
Jorde, Lynn B.
Robbins, Peter A.
Simonson, Tatum S.
Huff, Chad D.
[J]. PLOS GENETICS, 2017, 13 (04):
[40] Selection scan reveals three new loci related to high altitude adaptation in Native Andeans
Jacovas, Vanessa C.
Couto-Silva, Caina M.
Nunes, Kelly
Lemes, Renan B.
de Oliveira, Marcelo Z.
Salzano, Francisco M.
Bortolini, Maria Catira
Hunemeier, Tabita
[J]. SCIENTIFIC REPORTS, 2018, 8

← 1 2 3 4 5 6 7 8 9 10 →