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Can I read αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure–function on EtoBox?
αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure–function by Vincent Jallu; Mathilde Dusseaux; Simon Panzer; Marie-Françoise Torchet; Nathalie Hezard; Jenny Goudemand; Alexandre G. de Brevern; Cécile Kaplan is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure–function about?
Glanzmann thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder characterized by an impaired platelet aggregation due to defects in integrin aIIbb3 (ITGA2B, ITGB3), a fibrinogen receptor. Mutations from 24 GT patients and two carriers of various origins, Caucasian, North-African and Asian were characterized. Promoter and exon sequences of aIIb and b3 genes were amplified and directly sequenced. Among 29 identified mutations, 17 new allelic variants resulting from nonsense, missense and deletion/insertion mutations were described. RNA alterations were evaluated by using Web servers. The aIIb p.S926L, p.V903F, and b3 p.C38Y, p.M118R, p.G221D substitutions prevented complex expression at the surface of COS-7 cells by altering the aIIb or the b3 subunit structure. As shown by free energy analyses applied on the resolved structure of aIIbb3 and structural modeling of the mutant, the p.K253M substitution of b3 helped to define a key role of the K253 in the interaction of the aIIb b-propeller and the b3 b-I domains. finally, the aIIb p.Q595H substitution allowed cell surface expression of the complex but its corresponding c.2800G4T mutation is predicted to alter normal
Who reads αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure–function?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Vincent Jallu; Mathilde Dusseaux; Simon Panzer; Marie-Françoise Torchet; Nathalie Hezard; Jenny Goudemand; Alexandre G. de Brevern; Cécile Kaplan
- Publisher
- Hindawi Limited
- Published
- 2010
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)