Nonsense-mediated mRNA decay among coagulation factor genes
نویسنده
چکیده مقاله:
Objective(s): 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.
منابع مشابه
nonsense-mediated mrna decay among coagulation factor genes
objective(s): 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 fact...
متن کاملNonsense-mediated mRNA decay.
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Is it important? Absolutely! NMD probably evolved to eliminate abnormal transcripts due to routine errors in gene expression. For example, inefficient or inaccurate pre-mRNA splicing can generate an intron-derived in frame nonsense codon, or a shift in the reading frame and an exon-derived nonsense codon downstream of the shift. There are also natural substrates for NMD such as alternatively sp...
متن کاملNonsense-mediated mRNA decay in mammals.
Nonsense-mediated mRNA decay (NMD) in mammalian cells generally degrades mRNAs that terminate translation more than 50-55 nucleotides upstream of a splicing-generated exonexon junction (reviewed in Maquat, 2004a; Nagy and Maquat, 1998). Notably, dependence on exon-exon junctions distinguishes NMD in mammalian cells from NMD in all other organisms that have been examined, including Saccharomyces...
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عنوان ژورنال
دوره 19 شماره 4
صفحات 344- 349
تاریخ انتشار 2016-04-01
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