Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis.
Fiche publication
Date publication
octobre 2021
Journal
Journal of thrombosis and haemostasis : JTH
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GACHET Christian
Tous les auteurs :
Kimmerlin Q, Dupuis A, Bodakuntla S, Weber C, Heim V, Henriot V, Moog S, Eckly A, Guéguen P, Ferec C, Gachet C, Janke C, Lanza F
Lien Pubmed
Résumé
In the panel of genes commonly associated with inherited macrothrombocytopenia, an important fraction encodes key cytoskeletal proteins such as tubulin isotypes, the building blocks of microtubules. Macrothrombocytopenia causing mutations have been identified in the TUBB1 and TUBA4A genes, emphasizing their importance in the formation of platelets and their marginal band, a unique microtubule ring-like structure that supports the platelet typical disc-shaped morphology. This raised the hypothesis that other tubulin isotypes normally expressed in platelets could play a similar role in their formation.
Mots clés
Blood Platelets, Microtubules, Mutation, Thrombocytopenia, Tubulin
Référence
J Thromb Haemost. 2021 Oct 26;: