nonsense-mediated decay
SR proteins and the nonsense mediated decay mechanism are involved in human GLB1 gene alternative splicing
... Findings: Cycloheximide treatment of HeLa cells and human fibroblasts revealed the presence of new transcripts that are otherwise degraded by nonsense-mediated decay (NMD). A minigene carrying the ...
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TRPC1 transcript variants, inefficient nonsense-mediated decay and low up-frameshift-1 in vascular smooth muscle cells
... Nonsense-mediated decay (NMD) is a major RNA surveillance mechanism, degrading mRNAs that contain premature termination codons (PTCs) in eukaryotic cells ...RENT1). Decay of PTC-containing ...
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Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense mediated decay pathway
... A model of the changes in PTC-containing mRNA-protein complexes (mRNPs) during nuclear export. A PTC-containing transcript, depicted as in Figure 1, is capped, spliced and polyadenylated. Concomitantly, the cap-binding ...
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Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations
... Upf3b-GalNAc-ASO mediated NMD ...ASO- mediated depletion of Upf3b in mouse liver induced very few changes to the normal transcriptome compared to the depletion of the robust NMD regulator ...
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Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report
... 15]. Nonsense and frameshift muta- tions leading to nonsense transcripts contribute to nearly 60% of all pathogenic ...and nonsense-mediated decay [16]. In our study, the ...
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Identification and quantitative mRNA analysis of a novel splice variant of GPIHBP1 in dairy cattle
... In this study, we identified that there were five tran- scripts (X1, X2, X3, X4 and X5) of the bovine GPIHBP1 gene. The proteins of transcripts X2, X3 and X4 have the classical structure of the GPIHBP1 protein consist- ...
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Nonsense-Mediated mRNA Decay Mutation in Aspergillus nidulans
... of nonsense-mediated decay (NMD), whereby an mRNA containing a premature translation termination codon resulting from a frameshift or “nonsense” mutation is preferentially degraded, has been ...
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NMD inhibition fails to identify tumour suppressor genes in microsatellite stable gastric cancer cell lines
... to nonsense muta- tions are detected and rapidly degraded by the nonsense- mediated decay (NMD) ...is mediated through the assembly of protein complex coded by genes such as the ones ...
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Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay
... An association between new and alternatively spliced exons can probably also account for the rapid turnover of genes subject to NMD. Two types of species-specific alter- native splicing events can be defined [58,59]. One ...
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Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
... termination codons then appear in the middle of an mRNA, leading to the premature termination of transla- tion and the formation of an incomplete polypeptide chain. Nguyen LS et al. believed that the premature non- sense ...
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Nuclear Import of Upf3p Is Mediated by Importin-α/-β and Export to the Cytoplasm Is Required for a Functional Nonsense-Mediated mRNA Decay Pathway in Yeast
... for nonsense-mediated decay when Sun, ...the decay of nonsense-containing mRNAs tion of the position of exon-exon junctions to the mRNA surveil- in mammalian ...of nonsense mRNA ...
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UPF2, a nonsense mediated mRNA decay factor, is required for prepubertal Sertoli cell development and male fertility by ensuring fidelity of the transcriptome
... mRNA decay (NMD) represents a highly conserved RNA surveillance mechanism through which mRNA transcripts bearing premature termination codons (PTCs) are selectively degraded to maintain transcriptomic fidelity in ...
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Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons
... with nonsense mutations failed to show a significant response to administered PTC124, if they were concurrently treated with the in- haled tobramycin (Kerem et ...
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Multiple Nonsense-Mediated mRNA Processes Require Smg5 in Drosophila
... the cell (Gatfield et al. 2003; Rehwinkel et al. 2005). The molecular identities and biochemical characterization of the individual NMD genes have revealed clues about their roles in the NMD pathway. Upf1 is an ...
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Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense mediated mRNA decay
... Blocking nonsense-mediated mRNA decay significantly restored the amount of mutant PRPF31 mRNA but did not restore the synthesis of mutant proteins, even in conjunction with inhibitors of protein ...
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Human alternative Klotho mRNA is a nonsense-mediated mRNA decay target inefficiently spliced in renal disease
... membrane-bound Klotho shedding are unknown. Recent advances in RNA surveillance reveal that premature termination codons, as present in alternative Klotho mRNA (for secreted Klotho), prime mRNAs for degradation by ...
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Long term potentiation decay and memory loss are mediated by AMPAR endocytosis
... Neuritic plaques represent one of the main histopathologi- cal hallmarks in AD brains and are thought to play a critical role in mediating the excitotoxicity responsible for AD neuronal dam- age, including the loss of ...
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Quantification and Analysis of Thymidine Kinase Expression from Acyclovir-Resistant G-String Insertion and Deletion Mutants in Herpes Simplex Virus-Infected Cells
... often use mechanisms to compensate for the effects of the muta- tions on TK activity. In this study, we examined the effects of three tk frameshift mutations found in clinical ACV r isolates on TK expression in ...
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Novel Role for Decay-Accelerating Factor in Coxsackievirus A21-Mediated Cell Infectivity
... Coxsackievirus A21 (CVA21) is a human enterovirus and a causative agent of upper respiratory tract infections (7). The prototype strain of CVA21 (Kuykendall) utilizes two separate host cell receptors, ...
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Interaction of nonsense suppressor tRNAs and codon nonsense mutations or termination codons
... was a CAT reporter gene bearing an ochre mutation at the 5’ end (CATochre). The second target was the dys- trophin gene in mdx mice. The readthrough efficiencies were about 20% in COS cells and 5.5% in rat hearts. At ...
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