Abstract:
:Nonsense-mediated mRNA decay (NMD) is an evolutionarily conserved mRNA surveillance system that degrades mRNA transcripts that harbour a premature translation-termination codon (PTC), thus reducing the synthesis of truncated proteins that would otherwise have deleterious effects. Although extensive research has identified a conserved repertoire of NMD factors, these studies have been performed with a restricted set of genes and gene constructs with relatively few exons. As a consequence, NMD mechanisms are poorly understood for genes with large 3' terminal exons, and the applicability of the current models to large multi-exon genes is not clear. In this Commentary, we present an overview of the current understanding of NMD and discuss how analysis of nonsense mutations in the collagen gene family has provided new mechanistic insights into this process. Although NMD of the collagen genes with numerous small exons is consistent with the widely accepted exon-junction complex (EJC)-dependent model, the degradation of Col10a1 transcripts with nonsense mutations cannot be explained by any of the current NMD models. Col10a1 NMD might represent a fail-safe mechanism for genes that have large 3' terminal exons. Defining the mechanistic complexity of NMD is important to allow us to understand the pathophysiology of the numerous genetic disorders caused by PTC mutations.
journal_name
J Cell Scijournal_title
Journal of cell scienceauthors
Fang Y,Bateman JF,Mercer JF,Lamandé SRdoi
10.1242/jcs.120220subject
Has Abstractpub_date
2013-06-15 00:00:00pages
2551-60issue
Pt 12eissn
0021-9533issn
1477-9137pii
jcs.120220journal_volume
126pub_type
杂志文章,评审abstract::The cell types expressing cot proto-oncogene mRNA were identified by in situ hybridization (ISH) histochemistry. Among a variety of adult mouse tissues examined, four types of glandular cells expressing cot gene were identified: (1) granular duct cells in the submandibular and sublingual glands; (2) serous cells in th...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::Axenically grown cells of D. discoideum Ax-2 harvested in the log phase of growth, cohere rapidly when shaken in phosphate buffer. After 3.5 days in the stationary phase of growth, cells become completely non-cohesive. Although they do not stick to each other, stationary phase cells do stick to both log phase cells an...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1979-06-01 00:00:00
abstract::High-throughput neurotransmission at ribbon synapses of cochlear inner hair cells (IHCs) requires tight coupling of neurotransmitter release and balanced recycling of synaptic vesicles (SVs) as well as rapid restoration of release sites. Here, we examined the role of the adaptor protein AP180 (also known as SNAP91) fo...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.236737
更新日期:2020-01-22 00:00:00
abstract::The efficient functioning of striated muscle is dependent upon the structure of several cytoskeletal networks including myofibrils, microtubules, and intermediate filaments. However, little is known about how these networks function together during muscle differentiation and maintenance. In vitro studies suggest that ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.01158
更新日期:2004-07-01 00:00:00
abstract::Laminins are heterotrimeric glycoproteins of the extracellular matrix that are secreted by epithelial cells and which are crucial for the normal structure and function of the basement membrane. We have generated a mouse harboring a conditional knockout of α3 laminin (Lama3(fl/fl)), one of the main laminin subunits in ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.080911
更新日期:2011-09-01 00:00:00
abstract::Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause the ciliopathies known as Joubert and MORM syndromes; however, the role of INPP5E in ciliary biology is not well understood. Here, we describe an interaction between INPP5E and AURKA, a centrosomal kinase that regulates mitosis and ciliary disassembly,...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.161323
更新日期:2015-01-15 00:00:00
abstract::Loss of tissue organization is a hallmark of the early stages of cancer, and there is considerable interest in proteins that maintain normal tissue architecture. Prostate epithelial cells cultured in Matrigel form three-dimensional acini that mimic aspects of prostate gland development. The organization of these struc...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.119388
更新日期:2013-04-15 00:00:00
abstract::Notch signaling is pivotal for the morphogenesis and homeostasis of many tissues. We found that aberrant Notch activation in mouse neural-crest-derived periocular mesenchymal cells (POMCs), which contribute to the formation of corneal and eyelid stroma, results in blepharophimosis. Compound transgenic mice overexpress...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.085001
更新日期:2011-08-01 00:00:00
abstract::The activated leukocyte cell adhesion molecule (ALCAM) is dynamically regulated by the actin cytoskeleton. In this study we explored the molecular mechanisms and signaling pathways underlying the cytoskeletal restraints of this homotypic adhesion molecule. We observed that ALCAM-mediated adhesion induced by cytoskelet...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.01139
更新日期:2004-06-01 00:00:00
abstract::Members of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of proteolytic enzymes are implicated in a variety of physiological processes, such as collagen maturation, organogenesis, angiogenesis, reproduction and inflammation. Moreover, deficiency or overexpression of certain ADAMTS ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.005751
更新日期:2007-10-15 00:00:00
abstract::EPHA2 receptor tyrosine kinase is overexpressed in several human cancer types and promotes malignancy. However, the mechanisms by which EPHA2 promotes tumor progression are not completely understood. Here we report that overexpression of a wild-type EPHA2, but not a signaling-defective cytoplasmic truncation mutant (D...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.017145
更新日期:2008-02-01 00:00:00
abstract::Activity of AURKA is controlled through multiple mechanisms including phosphorylation, ubiquitin-mediated degradation and allosteric interaction with TPX2. Activity peaks at mitosis, before AURKA is degraded during and after mitotic exit in a process strictly dependent on the APC/C coactivator FZR1. We used FZR1 knock...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.243071
更新日期:2020-06-16 00:00:00
abstract::A synthetic gene encoding a 'consensus' calmodulin (synCaM) was able to substitute for the Saccharomyces cerevisiae calmodulin gene (CMDI), even though synCaM is only 60% identical in primary amino acid sequence to yeast Cmd1. Twelve different synCaM mutants were also expressed in yeast. Seven of the 12 mutant synCaMs...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1994-11-01 00:00:00
abstract::Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) triggers apoptosis selectively in tumor cells through interaction with TRAIL-R1/DR4 or TRAIL-R2/DR5 and this process is considered a promising avenue for cancer treatment. TRAIL resistance, however, is frequently encountered and hampers anti-cancer ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.109587
更新日期:2012-10-01 00:00:00
abstract::ADP-ribosylation factors (Arfs) play central roles in the regulation of vesicular trafficking through the Golgi. Arfs are activated at the Golgi membrane by guanine-nucleotide-exchange factors (GEFs) that are recruited from cytosol. Here, we describe a novel mechanism for the regulation of recruitment and activity of ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.130591
更新日期:2014-01-15 00:00:00
abstract::Cells respond to a wide variety of mechanical stimuli, ranging from thermal molecular agitation to potentially destructive cell swelling caused by osmotic pressure gradients. The cell membrane presents a major target of the external mechanical forces that act upon a cell, and mechanosensitive (MS) ion channels play a ...
journal_title:Journal of cell science
pub_type: 杂志文章,评审
doi:10.1242/jcs.01232
更新日期:2004-05-15 00:00:00
abstract::Localization of mRNAs is currently thought to be partially responsible for molecular sorting to specific compartments within the cell. In mammalian cells the best-studied example is the beta-actin mRNA that is localized to the cell processes, and its localization is necessary in migratory responses of cells. It is rea...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract::The core protease (CP) subcomplex of the 26S proteasome houses the proteolytic active sites and assumes a barrel shape comprised of four co-axially stacked heptameric rings formed by structurally related α- and β-subunits. CP biogenesis typically begins with the assembly of the α-ring, which then provides a template f...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.249862
更新日期:2020-11-03 00:00:00
abstract::The beta 2-tubulin isotype of Physarum polycephalum is only 83% identical in amino acid sequence with the constitutively expressed beta 1B-tubulin and the myxamoeba-specific beta 1A-tubulin isotypes. A polyclonal antibody specific for beta 2-tubulin was used to monitor the subcellular distribution of the beta 2-tubuli...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1989-10-01 00:00:00
abstract::The large GTPase dynamin, long known for its role in endocytosis, has most recently been implicated as a facilitator of cell migration and invasion. Recent observations link dynamin to the cycle of membrane expansion and retraction essential for cell motility. Its role in actin polymerization, membrane deformation and...
journal_title:Journal of cell science
pub_type: 杂志文章,评审
doi:10.1242/jcs.02963
更新日期:2006-05-01 00:00:00
abstract::Phosphoinositide 3-kinases (PI3Ks) phosphorylate the 3'-OH position of the inositol ring of inositol phospholipids, producing three lipid products: PtdIns(3)P, PtdIns(3,4)P(2) and PtdIns(3,4,5)P(3). These lipids bind to the pleckstrin homology (PH) domains of proteins and control the activity and subcellular localisat...
journal_title:Journal of cell science
pub_type: 杂志文章,评审
doi:
更新日期:2001-04-01 00:00:00
abstract::Sea urchin coelomocytes undergo an inducible structural transformation from petalloid to filopodial form during the 'clotting' response in sea urchins. Using a petalloid coelomocyte model, stimulated coelomocytes exhibited bidirectional particle/vesicle motility with a broad distribution of velocities, ranging from 0....
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1994-08-01 00:00:00
abstract::Fine-tuning of NMDA glutamatergic receptor signalling strategically controls crucial brain functions. This process depends on several ligands and modulators, one of which unexpectedly includes the serine protease tissue-type plasminogen activator (tPA). In vitro, tPA increases NMDA-receptor-mediated calcium influx by ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.03354
更新日期:2007-02-15 00:00:00
abstract::Cytokines are supposed to be mediators in diarrhoeal diseases. The aim of this study is to characterize the effect of tumor necrosis factor-alpha (TNFalpha) on epithelial barrier function in the colonic epithelial cell line HT-29/B6. Active ion transport and barrier function were measured as short-circuit current and ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::During their development, mammalian oocytes acquire the ability to resume meiosis. We demonstrate that the concentration of p34cdc2 increases during the acquisition of meiotic competence, as determined by immunoblotting, whereas the concentration of cyclin B1 decreases. Laser-scanning confocal microscopy corroborated ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::Low-density lipoprotein (LDL) deposition, aggregation and retention in the endothelial sub-intima are critical initiating events during atherosclerosis. Macrophages digest aggregated LDL (agLDL) through a process called exophagy. High-density lipoprotein (HDL) plays an atheroprotective role, but studies attempting to ...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.237271
更新日期:2019-12-02 00:00:00
abstract::Calmodulin was localized in the small intestine of Necturus maculosa at both the light- and electron-microscopic levels utilizing an affinity-purified, monospecific antibody and immunoperoxidase cytochemistry. The microvilli and basolateral membranes of the epithelium were highly reactive, the cytoplasm was moderately...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract::In the fission yeast Schizosaccharomyces pombe, the protein kinase Chk1 has an essential role in transducing a delay signal to the cell cycle machinery in the presence of DNA damage. Fission yeast cells lacking the chk1 gene do not delay progression of the cell cycle in response to damage and are thus sensitive to DNA...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.00133
更新日期:2002-12-01 00:00:00
abstract::Meiotic chromosome condensation is a unique process, characterized by dramatic changes in chromosome morphology that are required for the correct progression of pairing, synapsis, recombination and segregation of sister chromatids. We used an antibody that recognizes a ser 10 phosphoepitope on histone H3 to monitor H3...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract::Nervous system development and function are tightly regulated by metabolic processes, including the metabolism of lipids such as fatty acids. Mutations in long-chain acyl-CoA synthetase 4 (ACSL4) are associated with non-syndromic intellectual disabilities. We previously reported that Acsl, the Drosophila ortholog of m...
journal_title:Journal of cell science
pub_type: 杂志文章
doi:10.1242/jcs.195032
更新日期:2016-11-01 00:00:00