ArticleNature communications2023
Structural variants involved in high-altitude adaptation detected using single-molecule long-read sequencing.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Efficacy and safety profiles of CDK4/6 inhibitor in patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative (HR+/HER2-) advanced breast cancer (ABC) from the high-altitudeCancer biology & therapy · 2026Article
- ETV6 Rearrangement Suppresses CDKN1B Transcription by Disrupting an Intragenic Super-enhancer in Acute Lymphoblastic Leukemia.Cancer research · 2026Article
- Review
- Genome-wide variation analysis of two Salvia hispanica L. genotypes and implication for associations with metabolic and adaptive traits.Journal, genetic engineering & biotechnology · 2026Article
- Large-Scale Genomics Reveals Three-Source Ancestry and Layered Adaptation to High Altitude in Tibetan Chickens.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Bringing environment back into human evolution: why human genetics needs genome-environment association studies.Human genetics · 2026Review
- Manual validation finds ultra-long-read sequencing best enables faithful, population-level structural variant calling in Drosophila melanogaster euchromatin with nanopore.G3 (Bethesda, Md.) · 2026Article
- Structural Genomic Variation and Its Potential Role in Deer Speciation.Molecular ecology · 2026Article
- Genomic insights into alpine plant adaptation.Plant diversity · 2026Review
- Thioamide Compound H0802 Enhances Hypoxia Tolerance by Mimicking Hypoxia-Adaptive Reprogramming of Glucose and Oxygen Metabolism.Antioxidants (Basel, Switzerland) · 2026Article
- Article
- Accuracy of wearable smartwatch for measuring blood pressure and oxygen saturation across a wide altitudinal gradient: a comparative study in Migrant and Resident populations.Frontiers in physiology · 2026Article
- Olfactory Decline in Elderly at High Altitudes: A Narrative Review.International journal of general medicine · 2026Review
- Mapping cis- and trans-regulatory target genes of human-specific deletions.Nature communications · 2025Article
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- Structural Variations Associated with Adaptation and Coat Color in Qinghai-Tibetan Plateau Cattle.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Population-level gene copy number variations reveal distinct genetic properties of different Malus species.BMC genomics · 2025Article
- [Chinese expert consensus on the diagnosis and treatment of high-altitude polycythemia(2025)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
Corrections and comments
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Authors and funding
28 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Structural variants (SVs), accounting for a larger fraction of the genome than SNPs/InDels, are an important pool of genetic variation, enabling environmental adaptations. Here, we perform long-read sequencing data of 320 Tibetan and Han samples and show that SVs are highly involved in high-altitude adaptation. We expand the landscape of global SVs, apply robust models of selection and population differentiation combining SVs, SNPs and InDels, and use epigenomic analyses to predict enhancers, target genes and biological functions. We reveal diverse Tibetan-specific SVs affecting the regulatory circuitry of biological functions, including the hypoxia response, energy metabolism and pulmonary function. We find a Tibetan-specific deletion disrupts a super-enhancer and downregulates EPAS1 using enhancer reporter, cellular knock-out and DNA pull-down assays. Our study expands the global SV landscape, reveals the role of gene-regulatory circuitry rewiring in human adaptation, and illustrates the diverse functional roles of SVs in human biology.
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