A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi

The Journal of Clinical Investigation
K YamazumiM Matsuda

Abstract

In an abnormal fibrinogen with severely impaired polymerization of fibrin monomers, we identified a methionine-to-threonine substitution at position 310 of the gamma chain. Furthermore, asparagine at position 308 was found to be N-glycosylated due to a newly formed consensus sequence, asparagine(308)-glycine(309)-threonine(310). The two structural defects in the mutant gamma chain may well perturb the conformation required for fibrin monomer polymerization that is specifically assigned to the D domain of fibrinogen. This alteration also seems to affect the intermolecular gamma chain cross-linking of fibrin and fibrinogen, although the amine acceptor gamma glutamine-398 was found to function normally. These functional abnormalities may well be related to posttraumatic hemorrhage as observed in a 33-yr-old man with moderate hemorrhagic diathesis related to injuries since his early adolescence. The structure of the extra carbohydrate moiety attached to asparagine-308 was found to be identical with those derived from the normal B beta and gamma chains as evidenced by HPLC.

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Citations

Nov 15, 2002·International Journal of Hematology·Michio Matsuda, Teruko Sugo
Jul 28, 2012·International Journal of Hematology·Toshio ShigekiyoKen-ichi Aihara
Sep 1, 2001·British Journal of Haematology·H R RobertsD A Gabriel
Sep 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·R B ParadA E Davis
Jul 12, 2007·Pharmacogenetics and Genomics·Jacqueline SchönfelderStefan-Martin Brand-Herrmann
Apr 23, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Wing C LeeChristopher B Eckman
Dec 1, 1993·European Journal of Biochemistry·C S Cierniewski, A Z Budzynski
May 1, 2007·Current Opinion in Genetics & Development·Guillaume VogtJean-Laurent Casanova
Jun 1, 2005·Nature Genetics·Guillaume VogtJean-Laurent Casanova
Dec 2, 2009·Journal of Korean Medical Science·Eunkyung ParkYoung Joo Cha
Apr 1, 2006·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Rita C MarchiJohn W Weisel
Jul 20, 2001·Annals of the New York Academy of Sciences·M Matsuda, T Sugo
Jul 20, 2001·Annals of the New York Academy of Sciences·T SugoM Matsuda
Nov 12, 2015·Glycoconjugate Journal·Florent ClercManfred Wuhrer

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