ArticleGenome biology and evolution2019
Analysis of the Functional Relevance of Epigenetic Chromatin Marks in the First Intron Associated with Specific Gene Expression Patterns.
Article in Genome biology and evolution, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- A long first intron of PROS1 modulates protein S expression across tissues in mice and humans.Blood advances · 2026Article
- Patient-derived organoids in gynaecological cancers: emerging tools for therapy and disease modelling.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Genome-wide association study of angiotensinogen levels and key single nucleotide polymorphism associations with blood pressure.Journal of hypertension · 2025Article
- The Relevance of G-Quadruplexes in Gene Promoters and the First Introns Associated with Transcriptional Regulation in Breast Cancer.International journal of molecular sciences · 2025Article
- Pervasive Conservation of Intron Number and Other Genetic Elements Revealed by a Chromosome-level Genome Assembly of the Hyper-polymorphic Nematode Caenorhabditis brenneri.Genome biology and evolution · 2025Article
- Multiomics uncovers the epigenomic and transcriptomic response to viral and bacterial stimulation in turbot.GigaScience · 2025Article
- Genes divided according to the relative position of the longest intron show increased representation in different KEGG pathways.BMC genomics · 2024Article
- Pervasive conservation of intron number and other genetic elements revealed by a chromosome-level genomic assembly of the hyper-polymorphic nematodebioRxiv : the preprint server for biology · 2024Article
- A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes.Nucleic acids research · 2024Article
- Phosphorylation-dependent association of human chromatin protein PC4 to linker histone H1 regulates genome organization and transcription.Nucleic acids research · 2022Article
- The position of the longest intron is related to biological functions in some human genes.Frontiers in genetics · 2022Article
- Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Human mutation · 2021Article
- A Global Vista of the Epigenomic State of the Mouse Submandibular Gland.Journal of dental research · 2021Article
- Introns control stochastic allele expression bias.Nature communications · 2021Article
- A novel genetic variant associated with benign paroxysmal positional vertigo within the LOXL1.Molecular genetics & genomic medicine · 2020Article
- First Come, First Served: Sui Generis Features of the First Intron.Plants (Basel, Switzerland) · 2020Review
- The Histone Marks Signature in Exonic and Intronic Regions Is Relevant in Early Response of Tomato Genes toPlants (Basel, Switzerland) · 2020Article
- Enrichment of rare alleles within epigenetic chromatin marks in the first intron.Genomics & informatics · 2019Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We previously showed that the first intron of genes exhibits several interesting characteristics not seen in other introns: 1) it is the longest intron on average in almost all eukaryotes, 2) it presents the highest number of conserved sites, and 3) it exhibits the highest density of regulatory chromatin marks. Here, we expand on our previous study by integrating various multiomics data, leading to further evidence supporting the functionality of sites in the first intron. We first show that trait-associated single-nucleotide polymorphisms (TASs) are significantly enriched in the first intron. We also show that within the first intron, the density of epigenetic chromatin signals is higher near TASs than in distant regions. Furthermore, the distribution of several chromatin regulatory marks is investigated in relation to gene expression specificity (i.e., housekeeping vs. tissue-specific expression), essentiality (essential genes vs. nonessential genes), and levels of gene expression; housekeeping genes or essential genes contain greater proportions of active chromatin marks than tissue-specific genes or nonessential genes, and highly expressed genes exhibit a greater density of chromatin regulatory marks than genes with low expression. Moreover, we observe that genes carrying multiple first-intron TASs interact with each other within a large protein-protein interaction network, ultimately connecting to the UBC protein, a well-established protein involved in ubiquitination. We believe that our results shed light on the functionality of first introns as a genomic entity involved in gene expression regulation.
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