Single nucleotide polymorphism of human platelet-activating factor receptor impairs G-protein activation.

@article{Fukunaga2001SingleNP,
  title={Single nucleotide polymorphism of human platelet-activating factor receptor impairs G-protein activation.},
  author={Koichi Fukunaga and Shoji Ishii and Katsura Asano and Takehiko Yokomizo and Tadahiro Shiomi and Tomoko K. Shimizu and Kazunori Yamaguchi},
  journal={The Journal of biological chemistry},
  year={2001},
  volume={276 46},
  pages={43025-30}
}
Various proinflammatory and vasoactive actions of platelet-activating factor (PAF) are mediated through a specific G-protein-coupled PAF receptor (PAFR). We identified a novel DNA variant in the human PAFR gene, which substitutes an aspartic acid for an alanine residue at position 224 (A224D) in the putative third cytoplasmic loop. This mutation was observed in a Japanese population at an allele frequency of 7.8%. To delineate the functional consequences of this structural alteration, Chinese… CONTINUE READING
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