Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.
作者： Shinji Kunishima , Yoshiaki Tomiyama , Shigenori Honda , Yoshiyuki Kurata , Tadashi Kamiya
DOI: 10.1046/J.1365-2141.1999.01733.X
关键词:
摘要: Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, platelet receptor for von Willebrand factor. We describe here genetic basis of a patient with BSS. Flow cytometric analysis patient's platelets showed greatly reduced GPIbα and completely absent GPIX surface expression. Immunoblot disclosed residual amounts GPIbβ platelets. DNA sequencing revealed be homozygous novel missense mutation gene that converts Cys (TGT) Tyr (TAT) at residue 97. Transient transfection studies confirmed mutant was not expressed on transfected cells, showing responsible BSS phenotype observed patient.
sci-hub.se 参考文章(29)
Jing-Fei Dong, Garunee Sae-Tung, José A. López, Role of glycoprotein V in the formation of the platelet high-affinity thrombin-binding site. Blood. ,vol. 89, pp. 4355- 4363 ,(1997) , 10.1182/BLOOD.V89.12.4355
Shinji Kunishima, Jose A. Lopez, Sentaro Kobayashi, Nobuaki Imai, Tadashi Kamiya, Hidehiko Saito, Tomoki Naoe, Missense Mutations of the Glycoprotein (GP) Ibβ Gene Impairing the GPIb α/β Disulfide Linkage in a Family With Giant Platelet Disorder Blood. ,vol. 89, pp. 2404- 2412 ,(1997) , 10.1182/BLOOD.V89.7.2404
Masaaki Noda, Kingo Fujimura, Toshiro Takafuta, Takeshi Shimomura, Tetsuro Fujlmoto, Naomasa Yamamoto, Kenjiro Tanoue, Morio Arai, Akira Suehiro, Eizo Kakishita, Akemi Shimasaki, Atsushi Kuramoto, Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thrombosis and Haemostasis. ,vol. 74, pp. 1411- 1415 ,(1995) , 10.1055/S-0038-1649956
JM Clemetson, PA Kyrle, B Brenner, KJ Clemetson, Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. Blood. ,vol. 84, pp. 1124- 1131 ,(1994) , 10.1182/BLOOD.V84.4.1124.1124
M.J. Hickey, G.J. Roth, Characterization of the gene encoding human platelet glycoprotein IX. Journal of Biological Chemistry. ,vol. 268, pp. 3438- 3443 ,(1993) , 10.1016/S0021-9258(18)53713-3
JA Lopez, B Leung, CC Reynolds, CQ Li, JE Fox, Efficient plasma membrane expression of a functional platelet glycoprotein Ib-IX complex requires the presence of its three subunits. Journal of Biological Chemistry. ,vol. 267, pp. 12851- 12859 ,(1992) , 10.1016/S0021-9258(18)42354-X
D Pidard, R R Montgomery, J S Bennett, T J Kunicki, Interaction of AP-2, a monoclonal antibody specific for the human platelet glycoprotein IIb-IIIa complex, with intact platelets. Journal of Biological Chemistry. ,vol. 258, pp. 12582- 12586 ,(1983) , 10.1016/S0021-9258(17)44216-5
P J Neame, H U Choi, L C Rosenberg, The primary structure of the core protein of the small, leucine-rich proteoglycan (PG I) from bovine articular cartilage Journal of Biological Chemistry. ,vol. 264, pp. 8653- 8661 ,(1989) , 10.1016/S0021-9258(18)81842-7
Jose A Lopez, Stuart Weisman, David A Sanan, Tracey Sih, Margaret Chambers, Chester Q Li, Glycoprotein (GP) Ib beta is the critical subunit linking GP Ib alpha and GP IX in the GP Ib-IX complex. Analysis of partial complexes. Journal of Biological Chemistry. ,vol. 269, pp. 23716- 23721 ,(1994) , 10.1016/S0021-9258(17)31574-0
ShinjI Kunishima, Klyotaka Hayashi, Sentaro Kobayashi, Tomokl Naoe, Ryuzo Ohno, New enzyme-linked immunosorbent assay for glycocalicin in plasma. Clinical Chemistry. ,vol. 37, pp. 169- 172 ,(1991) , 10.1093/CLINCHEM/37.2.169