ArticlePurinergic signalling2010
Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.
Article in Purinergic signalling, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed.
- Increased P2X7 level does not affect anxiety or stress-coping behavior in male mice.Purinergic signalling · 2026Article
- The P2X7 receptor in leukemia: pathological mechanisms and therapeutic potential.Purinergic signalling · 2025Review
- Genetic Variations in the P2X7 Receptor: Opportunities and Challenges for Drug Development.International journal of molecular sciences · 2025Review
- Alternatively Spliced Isoforms of the P2X7 Receptor: Structure, Function and Disease Associations.International journal of molecular sciences · 2022Review
- A Possible Causal Involvement of Neuroinflammatory, Purinergic P2X7 Receptors in Psychiatric Disorders.Current neuropharmacology · 2022Article
- Inherent P2X7 Receptors Regulate Macrophage Functions during Inflammatory Diseases.International journal of molecular sciences · 2021Review
- P2X7 receptor is essential for cross-dressing of bone marrow-derived dendritic cells.iScience · 2021Article
- P2X7 Variants in Oncogenesis.Cells · 2021Review
- Associations Between the Purinergic Receptor P2X7 and Leprosy Disease.Frontiers in genetics · 2021Article
- Targeting CD39 in cancer.Nature reviews. Immunology · 2020Review
- Ion Channels of the Islets in Type 2 Diabetes.Journal of molecular biology · 2020Review
- On the mechanism of anti-CD39 immune checkpoint therapy.Journal for immunotherapy of cancer · 2020Review
- Association of P2RX7 functional variants with localized aggressive periodontitis.Journal of periodontal research · 2020Article
- P2X7 in Cancer: From Molecular Mechanisms to Therapeutics.Frontiers in pharmacology · 2020Review
- Associations ofJDR clinical and translational research · 2019Article
- Pathological ATPergic Signaling in Major Depression and Bipolar Disorder.Frontiers in molecular neuroscience · 2019Article
- Article
- Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.Rheumatology international · 2017Article
- Searching Novel Therapeutic Targets for Scleroderma: P2X7-Receptor Is Up-regulated and Promotes a Fibrogenic Phenotype in Systemic Sclerosis Fibroblasts.Frontiers in pharmacology · 2017Article
- Gain and loss of function of P2X7 receptors: mechanisms, pharmacology and relevance to diabetic neuropathic pain.Molecular pain · 2014Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
The P2X(7) receptor exhibits significant allelic polymorphism in humans, with both loss and gain of function variants potentially impacting on a variety of infectious and inflammatory disorders. At least five loss-of-function polymorphisms (G150R, R307Q, T357S, E496A, and I568N) and two gain-of-function polymorphisms (H155Y and Q460R) have been identified and characterized to date. In this study, we used RT-PCR cloning to isolate and characterize P2X(7) cDNA clones from human PBMCs and THP-1 cells. A previously unreported variant with substitutions of V80M and A166G was identified. When expressed in HEK293 cells, this variant exhibited heightened sensitivity to the P2X(7) agonist (BzATP) relative to the most frequent allele, as shown by pore formation measured by fluorescent dye uptake into cells. Mutational analyses showed that A166G alteration was critical for the gain-of-function change, while V80M was not. Full-length variants with multiple previously identified nonsynonymous SNPs (H155Y, H270R, A348T, and E496A) were also identified. Distinct functional phenotypes of the P2X(7) variants or mutants constructed with multiple polymorphisms were observed. Gain-of-function variations (A166G or H155Y) could not rescue the loss-of-function E496A polymorphism. Synergistic effects of the gain-of-function variations were also observed. We also identified the A348T alteration as a weak gain-of-function variant. Thus, these results identify the new gain-of-function variant A166G and demonstrate that multiple-gene polymorphisms contribute to functional phenotypes of the human P2X(7) receptor. Furthermore, the results demonstrate that the C-terminal of the cysteine-rich domain 1 of P2X(7) is critical for regulation of P2X(7)-mediated pore formation.
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