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Citations to this article

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
Liat Linde, … , Eitan Kerem, Batsheva Kerem
Liat Linde, … , Eitan Kerem, Batsheva Kerem
Published March 1, 2007
Citation Information: J Clin Invest. 2007;117(3):683-692. https://doi.org/10.1172/JCI28523.
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Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

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Abstract

Aminoglycosides can readthrough premature termination codons (PTCs), permitting translation of full-length proteins. Previously we have found variable efficiency of readthrough in response to the aminoglycoside gentamicin among cystic fibrosis (CF) patients, all carrying the W1282X nonsense mutation. Here we demonstrate that there are patients in whom the level of CF transmembrane conductance regulator (CFTR) nonsense transcripts is markedly reduced, while in others it is significantly higher. Response to gentamicin was found only in patients with the higher level. We further investigated the possibility that the nonsense-mediated mRNA decay (NMD) might vary among cells and hence governs the level of nonsense transcripts available for readthrough. Our results demonstrate differences in NMD efficiency of CFTR transcripts carrying the W1282X mutation among different epithelial cell lines derived from the same tissue. Variability was also found for 5 physiologic NMD substrates, RPL3, SC35 1.6 kb, SC35 1.7 kb, ASNS, and CARS. Importantly, our results demonstrate the existence of cells in which NMD of all transcripts was efficient and others in which the NMD was less efficient. Downregulation of NMD in cells carrying the W1282X mutation increased the level of CFTR nonsense transcripts and enhanced the CFTR chloride channel activity in response to gentamicin. Together our results suggest that the efficiency of NMD might vary and hence have an important role in governing the response to treatments aiming to promote readthrough of PTCs in many genetic diseases.

Authors

Liat Linde, Stephanie Boelz, Malka Nissim-Rafinia, Yifat S. Oren, Michael Wilschanski, Yasmin Yaacov, Dov Virgilis, Gabriele Neu-Yilik, Andreas E. Kulozik, Eitan Kerem, Batsheva Kerem

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Citations to this article (144)

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KM Drake, BJ Dunmore, LN McNelly, NW Morrell, MA Aldred
American journal of respiratory cell and molecular biology 2013
Nonsense-mediated mRNA decay: Inter-individual variability and human disease
LS Nguyen, MF Wilkinson, J Gecz
Neuroscience & Biobehavioral Reviews 2013
Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation
SM Rowe, B Liu, A Hill, H Hathorne, M Cohen, JR Beamer, FJ Accurso, Q Dong, CL Ordoñez, AJ Stone, ER Olson, JP Clancy,
PloS one 2013
Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression
KM Keeling, D Wang, Y Dai, S Murugesan, B Chenna, J Clark, V Belakhov, J Kandasamy, SE Velu, T Baasov, DM Bedwell
PloS one 2013
When a ribosome encounters a premature termination codon.
Hwang J, Kim YK
BMB Reports 2013
Class 1 CF Mutations
M Wilschanski
Frontiers in pharmacology 2012
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease
B Pérez, P Rodríguez-Pombo, M Ugarte, LR Desviat
Molecular syndromology 2012
Rescue of nonsense mutations by amlexanox in human cells
S Gonzalez-Hilarion, T Beghyn, J Jia, N Debreuck, G Berte, K Mamchaoui, V Mouly, DC Gruenert, B Déprez, F Lejeune
Orphanet Journal of Rare Diseases 2012
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through
X Huang, M Tian, CC Hernandez, N Hu, RL Macdonald
Neurobiology of Disease 2012
Suppression of premature termination codons as a therapeutic approach
KM Keeling, D Wang, SE Conard, DM Bedwell
Critical Reviews in Biochemistry and Molecular Biology 2012
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit
M Tian, RL Macdonald
The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment
J Hull
Journal of the Royal Society of Medicine 2012
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations
M Vecsler, BB Zeev, I Nudelman, Y Anikster, AJ Simon, N Amariglio, G Rechavi, T Baasov, E Gak
PloS one 2011
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
PK Dranchak, ED Pietro, A Snowden, N Oesch, NE Braverman, SJ Steinberg, JG Hacia
Journal of Cellular Biochemistry 2011
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases
KM Keeling, DM Bedwell
Wiley Interdisciplinary Reviews: RNA 2011
A whole-genome analysis of premature termination codons
ET Cirulli, EL Heinzen, FS Dietrich, KV Shianna, A Singh, JM Maia, JJ Goedert, DB Goldstein
Genomics 2011
The Muscular Dystrophies: Distinct Pathogenic Mechanisms Invite Novel Therapeutic Approaches
Z Sahenk, JR Mendell
Current Rheumatology Reports 2011
Activation of Type 1 CRH Receptor Isoforms Induces Serotonin Release from Human Carcinoid BON-1N Cells: An Enterochromaffin Cell Model
SV Wu, PQ Yuan, J Lai, K Wong, MC Chen, GV Ohning, Y Taché
Endocrinology 2011
Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis
PA Sloane, SM Rowe
Current Opinion in Pulmonary Medicine 2010
Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator
JF Collawn, L Fu, Z Bebok
Expert Review of Proteomics 2010
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier
A Hinzpeter, A Aissat, E Sondo, C Costa, N Arous, C Gameiro, N Martin, A Tarze, L Weiss, A Becdelièvre, B Costes, M Goossens, LJ Galietta, E Girodon, P Fanen
PLoS genetics 2010
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy
V Malik, LR Rodino-Klapac, L Viollet, JR Mendell
Therapeutic advances in neurological disorders 2010
The genetic basis of non-syndromic intellectual disability: a review
L Kaufman, M Ayub, JB Vincent
Journal of Neurodevelopmental Disorders 2010
Heritability in the efficiency of nonsense-mediated mRNA decay in humans
C Seoighe, C Gehring
PloS one 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
V Matejas, B Hinkes, F Alkandari, L Al-Gazali, E Annexstad, MB Aytac, M Barrow, K Bláhová, D Bockenhauer, HI Cheong, I Maruniak-Chudek, P Cochat, J Dötsch, P Gajjar, RC Hennekam, F Janssen, M Kagan, A Kariminejad, MJ Kemper, J Koenig, J Kogan, HY Kroes, E Kuwertz-Bröking, AF Lewanda, A Medeira, J Muscheites, P Niaudet, M Pierson, A Saggar, L Seaver, M Suri, A Tsygin, E Wühl, A Zurowska, S Uebe, F Hildebrandt, C Antignac, M Zenker
Human Mutation 2010
Cystic fibrosis transmembrane conductance regulator and caveolin-1 regulate epithelial cell internalization of Pseudomonas aeruginosa
M Bajmoczi, M Gadjeva, SL Alper, GB Pier, DE Golan
American journal of physiology. Cell physiology 2009
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels
S Teng, L Gao, V Paajanen, J Pu, Z Fan
Cardiovascular Research 2009
Nonaminoglycoside compounds induce readthrough of nonsense mutations
L Du, R Damoiseaux, S Nahas, K Gao, H Hu, JM Pollard, J Goldstine, ME Jung, SM Henning, C Bertoni, RA Gatti
Journal of Experimental Medicine 2009
Antagonistic factors control the unproductive splicing of SC35 terminal intron
N Dreumont, S Hardy, I Behm-Ansmant, L Kister, C Branlant, J Stévenin, CF Bourgeois
Nucleic Acids Research 2009
Premature termination codons in PRPF31 cause retinitis pigmentosa via nonsense-mediated mRNA decay and haploinsufficiency
Thomas Rio Frio, Nicholas M. Wade, Adriana Ransijn, Eliot L. Berson, Jacques S. Beckmann, Carlo Rivolta
Journal of Clinical Investigation 2008
New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals
H Hu, RA Gatti
Current Opinion in Allergy and Clinical Immunology 2008
Update in cystic fibrosis 2007
FJ Accurso
American journal of respiratory and critical care medicine 2008
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues
AB Zetoune, S Fontanière, D Magnin, O Anczuków, M Buisson, CX Zhang, S Mazoyer
BMC genetics 2008
Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation
ZA Bhuiyan, TS Momenah, Q Gong, AS Amin, SA Ghamdi, JS Carvalho, T Homfray, MM Mannens, Z Zhou, AA Wilde
Heart rhythm : the official journal of the Heart Rhythm Society 2008
Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways
PV Ivanov, NH Gehring, JB Kunz, MW Hentze, AE Kulozik
The EMBO Journal 2008
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
L Brichta, L Garbes, M Jedrzejowska, SN Grellscheid, I Holker, K Zimmermann, B Wirth
Human Genetics 2008
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
L Blázquez, M Azpitarte, A Sáenz, M Goicoechea, D Otaegui, X Ferrer, I Illa, E Gutierrez-Rivas, JJ Vilchez, AL de Munain
neurogenetics 2008
Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trials
SM Rowe, F Accurso, JP Clancy
Proceedings of the American Thoracic Society 2007
Restoration of W1282X CFTR activity by enhanced expression
SM Rowe, K Varga, A Rab, Z Bebok, K Byram, Y Li, EJ Sorscher, JP Clancy
American journal of respiratory cell and molecular biology 2007

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