Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.

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 int

SUBMITTER: Sun C 

PROVIDER: S-EPMC2837825 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature