Cited by 147Adenosine and Purinergic SignalingPain Mechanisms and TreatmentsGout, Hyperuricemia, Uric Acid

Significance of P2X7 Receptor Variants to Human Health and Disease

Open access
Sluyter, Ronald, Stokes, Leanne·2011·Recent Patents on DNA & Gene Sequences

Abstract

The human P2X7 receptor is a trimeric ligand-gated cation channel coded by the P2XR7 gene located at chromosome position 12q24. P2X7 is expressed in a wide variety of normal and disease-associated cell types. Activation of this receptor by extracellular adenosine 5'-triphosphate results in numerous downstream events including the release of pro-inflammatory mediators, cell proliferation or death, and killing of intracellular pathogens. As a result, P2X7 plays important roles in inflammation, immunity, bone homeostasis, neurological function and neoplasia. The P2XR7 gene encodes a P2X7 subunit 595 amino acids in length, however splice isoforms that can alter receptor expression and function, and modify the signaling properties downstream of receptor activation also exist. Moreover, the relative amount of P2X7 function varies between human individuals due to numerous single nucleotide polymorphisms resulting in either loss- or gain-of-function. Combinations of these polymorphisms give rise to various haplotypes that can also modify P2X7 function. Collectively, P2X7, and its splice and polymorphic variants are attracting considerable interest in relation to human health and disease, including the development and publication of a number of patents. Keywords: P2RX7, purinergic receptor, splice isoform, single nucleotide polymorphism, extracellular ATP, patent, ectoenzymes, pro-inflammatory mediators, oligodendrocytes, NALP3 inflammasome, transmembrane domain, macrophages, tuberculosis, mutant receptor displays, T-lymphocytes, dendritic cells, Langerhans cells

Integrity signals

Registry

Crossref · 10.2174/187221511794839219

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141 of 141 references verified0 citation errors · 0 not checkable

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  • P2X7 receptor activation is associated with numerous cellular functions, such as plasma membrane blebbing, phosphatidylserine exposure in the membrane, formation of ROS, interleukin secretion, cell death and proliferation.

    “Consequently, P2X7 receptor activation is associated with numerous cellular functions, as plasma membrane blebbing, phosphatidylserine exposure in the membrane, formation of ROS, interleukin secretion, cell death and proliferation [65, 66].”

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Authors
Sluyter, R., & Stokes, L.
Affiliations
University of Wollongong (AU)
Corresponding author
Stokes, Leanne
Venue
Recent Patents on DNA & Gene Sequences
Published
2011-04-01
Volume
5
Issue
1
Pages
41-54
ISSN
1872-2156 (ISSN-L)
OpenAlex
W2155073725
Cited by
147
References
141
Citations by year
2026: 5 · 2025: 8 · 2024: 10 · 2023: 10 · 2022: 10 · 2021: 9 · 2020: 13 · 2019: 10 · 2018: 7 · 2017: 10 · 2016: 8 · 2015: 12 · 2014: 10 · 2013: 14 · 2012: 9
FWCI
7.81
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Recent Patents on DNA & Gene Sequences (publishedVersion)
  • PubMed (publishedVersion)
  • Research Online (University of Wollongong) (submittedVersion)
  • RMIT Research Repository (RMIT University Library) (submittedVersion)
  • Figshare (submittedVersion, cc-by)
  • Figshare (submittedVersion)
Funders
Canine Research Foundation
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Adenosine and Purinergic Signaling
  • Health Sciences › Medicine › Physiology › Pain Mechanisms and Treatments
  • Health Sciences › Medicine › Nephrology › Gout, Hyperuricemia, Uric Acid
Keywords
P2X7 receptor, purinergic receptors, splice variants, single nucleotide polymorphisms, haplotypes, loss-of-function mutations, gain-of-function mutations, extracellular ATP, purinergic signaling, inflammation, immunity, bone homeostasis, neurological function, cancer, NLRP3 inflammasome, macrophages, tuberculosis, oligodendrocytes, T cells, dendritic cells, Langerhans cells
MeSH terms
Adenosine Triphosphate, Humans, Models, Genetic, Patents as Topic, Signal Transduction, Protein Isoforms, Polymorphism, Single Nucleotide, Receptors, Purinergic P2X7

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