3' end processing of the prothrombin mRNA in thrombophilia.
Clinical and genetic studies have led to the discovery of specific genotypes that predispose to thromboembolism in adults and children. The exploration of the underlying pathologies has revealed a broad variety of affected molecular mechanisms. Most recently, the functional analysis of the prothrombin (F2) 20210*A variant revealed increased efficiency of 3' end processing as a novel genetic mechanism predisposing to human disease. Here, we review the 3' end processing of the human F2 mRNA and demonstrate how clinically relevant mutations in the F2 gene contribute to thrombophilia by interfering with a tightly balanced architecture of noncanonical 3' end formation signals.
Danckwardt
Sven
S
Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany.
Hartmann
Kathrin
K
Gehring
Niels H
NH
Hentze
Matthias W
MW
Kulozik
Andreas E
AE
D024509:3' Flanking Region / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D019851:Thrombophilia / Q000235:genetics*
D012333:RNA, Messenger; D011516:Prothrombin