ArticleNature communications2019
Defining the genetic and evolutionary architecture of alternative splicing in response to infection.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed.
- Integrating single-cell sQTL mapping with deep-learning splicing prediction identifies causal variants under influenza infection.Genome biology · 2026Article
- Allele-specific splicing modulates protein isoforms and Alzheimer's risk.bioRxiv : the preprint server for biology · 2026Article
- Causal splicing variants revealed by deep-learning integration of single-cell sQTL mapping under influenza infection.Research square · 2026Article
- Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation.Nature communications · 2025Article
- Alternative splicing immune signature for detecting HBV-related hepatocellular carcinoma in peripheral blood mononuclear cells.Biochemistry and biophysics reports · 2025Article
- Bayesian reconstruction and differential testing of excised introns.Bioinformatics (Oxford, England) · 2025Article
- Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing.BMC genomics · 2025Article
- The generation and consequences of N-terminal proteoform diversity.Cell reports · 2025Review
- Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk.Nature communications · 2025Article
- Pseudouridine synthases are proviral factors for Sindbis virus in insect and mammalian cells.mBio · 2025Article
- Article
- RNA-sequencing studies suggest that microRNAs and alternative splicing of pre-mRNAs modulate immune and inflammatory responses in Holstein cattle infected withFrontiers in immunology · 2025Review
- Differential Expression Analyses on Human Aortic Tissue Reveal Novel Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and Progression.Journal of the American Heart Association · 2024Article
- Profiling genetically driven alternative splicing across the Indonesian archipelago.American journal of human genetics · 2024Article
- Article
- Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms.Nature communications · 2024Article
- Variant- and vaccination-specific alternative splicing profiles in SARS-CoV-2 infections.iScience · 2024Article
- A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs.Cell genomics · 2024Article
- Genome-wide association analysis of the resistance to infectious hematopoietic necrosis virus in two rainbow trout aquaculture lines confirms oligogenic architecture with several moderate effect quantitative trait loci.Frontiers in genetics · 2024Article
- Alternative splicing of pre-mRNA modulates the immune response in Holstein cattle naturally infected withFrontiers in immunology · 2024Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Host and environmental factors contribute to variation in human immune responses, yet the genetic and evolutionary drivers of alternative splicing in response to infection remain largely uncharacterised. Leveraging 970 RNA-sequencing profiles of resting and stimulated monocytes from 200 individuals of African- and European-descent, we show that immune activation elicits a marked remodelling of the isoform repertoire, while increasing the levels of erroneous splicing. We identify 1,464 loci associated with variation in isoform usage (sQTLs), 9% of them being stimulation-specific, which are enriched in disease-related loci. Furthermore, we detect a longstanding increased plasticity of immune gene splicing, and show that positive selection and Neanderthal introgression have both contributed to diversify the splicing landscape of human populations. Together, these findings suggest that differential isoform usage has been an important substrate of innovation in the long-term evolution of immune responses and a more recent vehicle of population local adaptation.
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