NDLI: Genetic polymorphisms of FCGR2A encoding Fcγ receptor IIa in a Japanese population and functional analysis of the L273P variant

Content Provider	Springer Nature Link
Author	Tada, Miru Ishii Watabe, Akiko Maekawa, Keiko Fukushima Uesaka, Hiromi Kurose, Kouichi Suzuki, Takuo Kaniwa, Nahoko Sawada, Jun ichi Kawasaki, Nana Nakajima, Takako Eguchi Kato, Ken Yamada, Yasuhide Shimada, Yasuhiro Yoshida, Teruhiko Ura, Takashi Saito, Miyuki Muro, Kei Doi, Toshihiko Fuse, zomu Yoshi, Takayuki Ohtsu, Atsushi Saijo, Nagahiro Okuda, Haruhiro Hamaguchi, Tetsuya Saito, Yoshiro Matsumura, Yasuhiro
Copyright Year	2012
Abstract	Fcγ receptor IIa (FcγRIIa) plays an important role in antibody-dependent cellular cytotoxicity and inflammation. Changes in FcγRIIa expression levels or activity caused by genetic polymorphisms in FCGR2A, the gene encoding FcγRIIa, may lead to differences in disease progression as well as efficacy of antibody therapeutics between individuals. In this study, we sequenced the 5′-flanking region along with all exons and their flanking regions of FCGR2A from 111 Japanese subjects. Forty-eight genetic variations were found including 12 novel ones. Beside the well-known functional 497A > G (H166R) polymorphism, we detected 818T > C (L273P) at 0.005 frequency. Since the functional significance of this polymorphism has not been revealed, we next assessed the functions of the L273P substitution by expressing wild-type and the variant proteins in human Jurkat cells. The L273P variant protein showed similar cell surface expression and IgG-binding properties as the wild-type, but it exhibited a stronger signal transduction activity based on the approximately 2-fold enhancement of tyrosine phosphorylation of FcγRIIa itself. The current results suggest that L273P could have functional significance in the antibody-dependent clinical responses through FcγRIIa.
Starting Page	869
Ending Page	877
Page Count	9
File Format	PDF
ISSN	00937711
Journal	Immunogenetics
Volume Number	64
Issue Number	12
e-ISSN	14321211
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-08-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Fcγ receptor IIa FCGR2A gene Genetic polymorphism Nonsynonymous variation Functional evaluation Gene Function Human Genetics Allergology Cell Biology Immunology
Content Type	Text
Resource Type	Article
Subject	Genetics Immunology

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