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A Glu-496 To Ala Polymorphism Leads To Loss Of Function Of The Human P2x7 Receptor, Ben J. Gu, Weiyi Zhang, Rebecca A. Worthington, Ronald Sluyter, L Phuong Dao-Ung, Stephen Petrou, J A. Barden, James Wiley

Faculty of Science - Papers (Archive)

P2X(7) receptor is a ligand-gated cation-selective channel that mediates ATP-induced apoptosis of cells of the immune system. We and others have shown that P2X(7) is nonfunctional both in lymphocytes and monocytes from some subjects. To study a possible genetic basis we sequenced DNA coding for the carboxyl-terminal tail of P2X(7). In 9 of 45 normal subjects a heterozygous nucleotide substitution (1513A-->C) was found, whereas 1 subject carried the homozygous substitution that codes for glutamic acid to alanine at amino acid position 496. Surface expression of P2X(7) on lymphocytes was not affected by this E496A polymorphism, demonstrated both by confocal …