Genetic Evidence for High-Altitude Adaptation in Tibet

Simonson, Tatum S.; Yang, Yingzhong; Huff, Chad; Yun, Hu; Ga, Qin; Witherspoon, David J.; Bai, Zhenzhong; Lorenzo, Felipe; Xing, Jinchuan; Jorde, Lynn B.; Prchal, Josef T.; Ge, Ri Li

doi:10.1126/science.1189406

Cited by 952 publications

(1,034 citation statements)

References 35 publications

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“…Conversely, physiological constraints may also limit adaptation (Ricklefs & Wikelski, 2002), with the corollary to this being that selection on physiological processes must be an equally important aspect of adaptation to new habitats. Indeed results from genome scans increasingly reveal signals of selection acting on physiological processes (Akey et al., 2010; Gautier et al., 2009; Shimada, Shikano, & Merilä, 2011; Simonson et al., 2010), and on metabolism in particular (reviewed in Marden, 2013). While these types of studies can provide initial evidence in support of adaptive divergence, the case of the Andean Sparrow ( Zonotrichia capensis ) highlights their potential limitations: A genome scan suggested selection acting on metabolic pathways, but this result was contradicted by experimental tests of associated enzyme affinity (Cheviron et al., 2014).…”

Section: Introductionmentioning

confidence: 99%

Selection on the morphology–physiology‐performance nexus: Lessons from freshwater stickleback morphs

Morozov

Leinonen

Merilä

et al. 2017

Ecology and Evolution

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Conspecifics inhabiting divergent environments frequently differ in morphology, physiology, and performance, but the interrelationships amongst traits and with Darwinian fitness remains poorly understood. We investigated population differentiation in morphology, metabolic rate, and swimming performance in three‐spined sticklebacks (Gasterosteus aculeatus L.), contrasting a marine/ancestral population with two distinct freshwater morphotypes derived from it: the “typical” low‐plated morph, and a unique “small‐plated” morph. We test the hypothesis that similar to plate loss in other freshwater populations, reduction in lateral plate size also evolved in response to selection. Additionally, we test how morphology, physiology, and performance have evolved in concert as a response to differences in selection between marine and freshwater environments. We raised pure‐bred second‐generation fish originating from three populations and quantified their lateral plate coverage, burst‐ and critical swimming speeds, as well as standard and active metabolic rates. Using a multivariate Q ST‐F ST framework, we detected signals of directional selection on metabolic physiology and lateral plate coverage, notably demonstrating that selection is responsible for the reduction in lateral plate coverage in a small‐plated stickleback population. We also uncovered signals of multivariate selection amongst all bivariate trait combinations except the two metrics of swimming performance. Divergence between the freshwater and marine populations exceeded neutral expectation in morphology and in most physiological and performance traits, indicating that adaptation to freshwater habitats has occurred, but through different combinations of traits in different populations. These results highlight both the complex interplay between morphology, physiology and performance in local adaptation, and a framework for their investigation.

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Section: Introductionmentioning

confidence: 99%

Selection on the morphology–physiology‐performance nexus: Lessons from freshwater stickleback morphs

Morozov

Leinonen

Merilä

et al. 2017

Ecology and Evolution

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“…Of the seven unique TFBS for the EGLN1-C allele, the ESRRA, NR2C2, NR2F1 and RORA_1 TFs are involved with steroid hormone activity including estrogen receptor (ER), PPAR and THR at this binding site (Supplement). The interaction between EGLN1 and PPAR has been well documented in HA environments [21,[63][64][65].…”

Section: Nrf1(+) Mzf1_5-13(-) Nfe2l1::mafg(+) Mzf1_5-13(-) Pax5(-) Mamentioning

confidence: 99%

“…Hypoxia causes an inactivation of the EGLN1 gene thereby increasing HIF activity that induces the expression of genes which mediates the adaptive responses through glycolytic enzymes, hemeoxygenase, vascular endothelial growth factor and erythropoietin [19]. The two EGLN1 SNPs (rs480902 and rs516651) included in the study are located in intron 2 of EGLN1 have been associated with high altitude adaptation in human populations [10,[19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

SNPs, Linkage Disequilibrium and Transcriptional Factor Binding Sites Associated with Acute Mountain Sickness among Han Chinese at the Qinghai-Tibetan Plateau

Buroker¹,

Xue²

2015

J Clin Med Genomics

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Acute mountain sickness (AMS) occurs in up to 50% of individuals ascending to high altitudes greater than 2600 meters. An AMS Han Chinese and a normal Han group were compared for 17 simple nucleotide polymorphisms (SNPs) within 9 genes that have been associated with AMS. The SNPs were analyzed with respect to linkage disequilibrium (LD) between intra-and intergenic SNP alleles and alterations in transcriptional factor binding sites (TFBS). Included in the study was the angiotensin-converting enzyme (ACE) (rs4340), the angiotensinogen (AGT) (rs699) and the angotensin II type 1 receptor (AGTR1) (rs5186) SNPs from the renin-angiotension system (RAS) as well as the GNB3 (rs2071057) SNP from G-protein signaling and a LDL apolipoprotein B (APOB) (rs693) SNP. The endothetal Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) SNP and two egl nine homolog 1 (EGLN1) SNPS (rs480902 and rs516651) from the hypoxia-inducible factor (HIF) oxygen signaling pathway were included. SNPs analyzed in the vascular endothelial growth factor (VEGF) signaling pathway are the v-akt murine thymoma viral oncogene homolog 3 (AKT3) (rs4590656 and rs2291409), the endothelial cell nitric oxide synthase 3 (eNOS3) (rs1007311 and rs1799983) and the (VEGFA) (rs79469752, rs13207351, rs28357093, rs1570360 and rs3025039). These SNP alleles alter the TFBS for TF binding. Pair-wise LD was computed between SNPs. An increase in LD occurred in 32 pair-wise comparisons while a decrease was found in 22 pair-wise comparisons between the AMS and controls. Increases and decreases in LD pairs were found within and between signaling pathways and systems indicating the interaction of SNP alleles or potential TFBS from different areas of the genome. The most drastic change in TFBS occurs with ACE (I/D) SNP (rs4340) where the ACE-I allele generates 84 potential TFBS while the ACE-D allele generates only four binding sites. The alteration in TFBS generated by the 17 SNPs is discussed with respect to AMS.

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“…D'autres gènes parmi les 34 sélection-nés ont été identifiés : ceux codant les globines HBB et HBG2 : les SNP sont éga-lement introniques et les changements induits toucheraient la régulation. Le gène EGLN1, signalé dans le précédent article [3] et qui fonctionne aussi dans la voie HIF de réponse à l'hypoxie, se trouve entre deux locus de gènes sélec-tionnés à un haut niveau. Une étude des populations andines de l'altiplano Sud-américain a recensé EGLN1 parmi les gènes candidats à l'adaptation à l'hypoxie, confirmant les différences adaptatives possibles aux très hautes altitudes [8] …”

unclassified

L’adaptation aux très hautes altitudes

Labie

2010

Med Sci (Paris)

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Genetic Evidence for High-Altitude Adaptation in Tibet

Cited by 952 publications

References 35 publications

Selection on the morphology–physiology‐performance nexus: Lessons from freshwater stickleback morphs

Selection on the morphology–physiology‐performance nexus: Lessons from freshwater stickleback morphs

SNPs, Linkage Disequilibrium and Transcriptional Factor Binding Sites Associated with Acute Mountain Sickness among Han Chinese at the Qinghai-Tibetan Plateau

L’adaptation aux très hautes altitudes

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