Iran J Basic Med Sci. 2016 Apr;19(4):344-9.
Nonsense-mediated mRNA decay among coagulation factor genes.
Iranian journal of basic medical sciences
Shirin Shahbazi
Affiliations
Affiliations
- Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
PMID: 27279976
PMCID: PMC4887705
Abstract
OBJECTIVES: Haemostasis prevents blood loss following vascular injury. It depends on the unique concert of events involving platelets and specific blood proteins, known as coagulation factors. The clotting system requires precise regulation and coordinated reactions to maintain the integrity of the vasculature. Clotting insufficiency mostly occurs due to genetically inherited coagulation factor deficiencies such as hemophilia.
MATERIALS AND METHODS: A relevant literature search of PubMed was performed using the keywords coagulation factors, Nonsense-mediated mRNA decay and premature translation termination codons. Search limitations included English language and human-based studies.
RESULTS: Mutations that cause premature translation termination codons probably account for one-third of genetically inherited diseases. Transcripts bearing aberrant termination codons are selectively identified and eliminated by an evolutionarily conserved posttranscriptional pathway known as nonsense-mediated mRNA decay (NMD). There are many pieces of evidence of decay among coagulation factor genes. However, the hemophilia gene (F8) does not seem to be subjected to NMD. Since the F8 gene is located on the X-chromosome, a connection between X-linked traits and mRNA decay could be assumed.
CONCLUSION: Considering that not all genes go through decay, this review focuses on the basics of the mechanism in coagulation genes. It is interesting to determine whether this translation-coupled surveillance system represents a general rule for the genes encoding components of the same physiological cascade.
Keywords: Coagulation factors; Nonsense-mediated mRNA decay; Premature translation termination codons
References
- Semin Thromb Hemost. 2009 Jun;35(4):407-15 - PubMed
- Haemophilia. 2008 Nov;14(6):1190-200 - PubMed
- Br J Haematol. 1996 Oct;95(1):184-91 - PubMed
- Am J Hum Genet. 1989 Oct;45(4):498-506 - PubMed
- Mutat Res Rev Mutat Res. 2014 Oct-Dec;762:52-64 - PubMed
- J Thromb Haemost. 2007 Jun;5(6):1106-12 - PubMed
- Lancet. 2003 May 24;361(9371):1801-9 - PubMed
- Br J Haematol. 2002 Sep;118(3):689-700 - PubMed
- Arterioscler Thromb Vasc Biol. 2007 Dec;27(12):2507-13 - PubMed
- Cell Mol Life Sci. 2015 Jan;72(2):307-26 - PubMed
- RNA. 1998 Jul;4(7):801-15 - PubMed
- Haemophilia. 2015 Mar;21(2):249-57 - PubMed
- Blood Coagul Fibrinolysis. 2004 Oct;15(7):521-38 - PubMed
- Semin Thromb Hemost. 2004 Aug;30(4):461-71 - PubMed
- Haemophilia. 2006 Jul;12 Suppl 3:82-9 - PubMed
- Trends Cardiovasc Med. 1999 Oct;9(7):185-92 - PubMed
- Br J Haematol. 2000 Dec;111(4):1240-6 - PubMed
- Thromb Haemost. 1995 Jul;74(1):1-6 - PubMed
- N Engl J Med. 2004 Aug 12;351(7):683-94 - PubMed
- RNA Biol. 2012 Jan;9(1):22-6 - PubMed
- Mol Pathol. 2002 Apr;55(2):127-44 - PubMed
- Int J Mol Epidemiol Genet. 2012;3(1):77-83 - PubMed
- Blood Cells Mol Dis. 2012 Jun 15;49(1):48-52 - PubMed
- Mutat Res. 2001 Nov 1;487(1-2):1-17 - PubMed
- J Thromb Haemost. 2009 Jul;7 Suppl 1:84-7 - PubMed
- J Thromb Haemost. 2003 Jan;1(1):139-46 - PubMed
- Biochem Biophys Res Commun. 2009 Jun 5;383(3):378-82 - PubMed
- Blood Rev. 2002 Jun;16(2):97-110 - PubMed
- J Thromb Haemost. 2010 Nov;8(11):2349-57 - PubMed
- Haemophilia. 2010 Sep 1;16(5):786-90 - PubMed
- Clin Haematol. 1985 Jun;14(2):359-83 - PubMed
- J Thromb Haemost. 2011 Apr;9(4):679-88 - PubMed
- Proc Natl Acad Sci U S A. 1991 May 1;88(9):3857-61 - PubMed
- Haematologica. 2010 Jan;95(1):172-4 - PubMed
- J Thromb Haemost. 2010 Dec;8(12):2736-42 - PubMed
- Haematologica. 2005 Dec;90(12):1716-8 - PubMed
- Physiol Res. 2007;56(6):685-95 - PubMed
- Physiol Rev. 2013 Jan;93(1):327-58 - PubMed
- Haemophilia. 2009 Sep;15(5):1058-64 - PubMed
- Blood Rev. 2011 Sep;25(5):193-204 - PubMed
- Arterioscler Thromb Vasc Biol. 2007 Aug;27(8):1687-93 - PubMed
- Semin Thromb Hemost. 2013 Sep;39(6):621-31 - PubMed
- Thromb Haemost. 1999 Aug;82(2):165-74 - PubMed
- Bull World Health Organ. 1995;73(5):691-701 - PubMed
- Blood. 1994 Jul 15;84(2):517-25 - PubMed
- Mol Biotechnol. 2010 Jul;45(3):241-7 - PubMed
- Haemophilia. 2014 May;20(3):e215-21 - PubMed
- Vox Sang. 2014 Jul;107(1):97-9 - PubMed
- Curr Opin Hematol. 2011 Sep;18(5):349-55 - PubMed
- Biochemistry. 1991 Oct 29;30(43):10363-70 - PubMed
- Blood Coagul Fibrinolysis. 2012 Oct;23(7):603-7 - PubMed
- Blood. 1986 Mar;67(3):565-72 - PubMed
- Blood. 2015 Mar 26;125(13):2019-28 - PubMed
- Prog Hemost Thromb. 1991;10:175-214 - PubMed
- Blood. 2008 Sep 1;112(5):1704-12 - PubMed
- Haemophilia. 2008 Jul;14 Suppl 3:202-10 - PubMed
- Arterioscler Thromb Vasc Biol. 2004 Jun;24(6):1015-22 - PubMed
- J Thromb Haemost. 2007 Sep;5(9):1956-62 - PubMed
- Semin Thromb Hemost. 2009 Jun;35(4):400-6 - PubMed
- Curr Med Chem. 2004 Sep;11(17):2245-60 - PubMed
Publication Types