|
|
Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2002-02-0412.
 Previous Article | Table of Contents | Next Article 
Blood, 1 July 2002, Vol. 100, No. 1, pp. 359-362
BRIEF REPORT
The G20210A mutation does not affect the stability of
prothrombin mRNA in vivo
Eleanor S. Pollak,
Ho-Sun Lam, and
J. Eric Russell
From the Departments of Pathology and Laboratory
Medicine, Medicine (Hematology/Oncology), and Pediatrics (Hematology),
University of Pennsylvania School of Medicine; and The Children's
Hospital of Philadelphia; both of Philadelphia, PA.
The activated form of prothrombin plays pivotal roles in the
regulation of crucial coagulation, fibrinolytic, and cellular processes. Among several congenital genetic defects affecting the
prothrombin gene, a G A mutation at position 20210 the accepted polyadenylation sitehas been linked to hyperprothrombinemia and a
corresponding increase in venous and arterial thrombotic risk. The
current study substantiates the hypothesis that the 20210A mutation
effects posttranscriptional dysregulation of the prothrombin messenger RNA (mRNA). Moreover, data from experiments carried out in
fresh liver tissue indicate that the 20210A mutation does not affect
prothrombin mRNA stability but, rather, effects a change in the
location of the 3'-cleavage/polyadenylation reaction. Based upon this
evidence, we propose an alternate model for the dysregulated expression
of the prothrombin 20210A gene that does not require a change in the
stability of its mRNA.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
S. T. Morozowich, B. S. Donahue, and I. J. Welsby
Genetics of coagulation: considerations for cardiac surgery.
Seminars in Cardiothoracic and Vascular Anesthesia,
December 1, 2006;
10(4):
297 - 313.
[Abstract]
[PDF]
|
|
|
|
|
|
|
C. G. Tag, M.-C. Schifflers, M. Mohnen, A. M. Gressner, and R. Weiskirchen
Atypical Melting Curve Resulting from Genetic Variation in the 3' Untranslated Region at Position 20218 in the Prothrombin Gene Analyzed with the LightCycler Factor II (Prothrombin) G20210A Assay
Clin. Chem.,
August 1, 2005;
51(8):
1560 - 1561.
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Sachchithananthan, S. J. Stasinopoulos, J. Wilusz, and R. L. Medcalf
The relationship between the prothrombin upstream sequence element and the G20210A polymorphism: the influence of a competitive environment for mRNA 3'-end formation
Nucleic Acids Res.,
February 17, 2005;
33(3):
1010 - 1020.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Danckwardt, N. H. Gehring, G. Neu-Yilik, P. Hundsdoerfer, M. Pforsich, U. Frede, M. W. Hentze, and A. E. Kulozik
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations
Blood,
July 15, 2004;
104(2):
428 - 435.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. von Ahsen and M. Oellerich
The intronic prothrombin 19911A>G polymorphism influences splicing efficiency and modulates effects of the 20210G>A polymorphism on mRNA amount and expression in a stable reporter gene assay system
Blood,
January 15, 2004;
103(2):
586 - 593.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
