Journal ArticleDOI
NMD: RNA biology meets human genetic medicine
Madhuri Bhuvanagiri,Madhuri Bhuvanagiri,Anna Melissa Schlitter,Anna Melissa Schlitter,Matthias W. Hentze,Andreas E. Kulozik,Andreas E. Kulozik +6 more
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TLDR
The factors involved in NMD are discussed, the different models proposed for the recognition of PTCs (premature termination codons), the diverse physiological roles of NMD, the involvement of this surveillance pathway in disease and the current strategies for medical treatment of P TC-related diseases are discussed.Abstract:
NMD (nonsense-mediated mRNA decay) belongs to the best-studied mRNA surveillance systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the one hand and playing an initially unexpected role in the regulation of global gene expression on the other hand. In the present review, we briefly discuss the factors involved in NMD, the different models proposed for the recognition of PTCs (premature termination codons), the diverse physiological roles of NMD, the involvement of this surveillance pathway in disease and the current strategies for medical treatment of PTC-related diseases.read more
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A physical, genetic and functional sequence assembly of the barley genome
Klaus F. X. Mayer,Robbie Waugh,Peter Langridge,Timothy J. Close,Roger P. Wise,Andreas Graner,Takashi Matsumoto,Kazuhiro Sato,Alan H. Schulman,Ruvini Ariyadasa,Daniela Schulte,Naser Poursarebani,Ruonan Zhou,Burkhard Steuernagel,Martin Mascher,Uwe Scholz,Bu-Jun Shi,Kavitha Madishetty,Jan T. Svensson,Prasanna R. Bhat,Matthew J. Moscou,Josh Resnik,Gary J. Muehlbauer,Pete E. Hedley,Hui Liu,Jenny Morris,Zeev Frenkel,Avraham Korol,Hélène Bergès,Stefan Taudien,Marius Felder,Marco Groth,Matthias Platzer,Axel Himmelbach,Stefano Lonardi,Denisa Duma,Matthew Alpert,Francesa Cordero,Francesa Cordero,Marco Beccuti,Gianfranco Ciardo,Yaqin Ma,Steve Wanamaker,Federica Cattonaro,Vera Vendramin,Simone Scalabrin,Slobodanka Radovic,Rod A. Wing,Michele Morgante,Thomas Nussbaumer,Heidrun Gundlach,Mihaela Martis,Jesse Poland,Matthias Pfeifer,Cédric Moisy,Jaakko Tanskanen,Andrea Zuccolo,Manuel Spannagl,Joanne Russell,Arnis Druka,David Marshall,Micha Bayer,David Swarbreck,Dharanya Sampath,Sarah Ayling,Melanie Febrer,Mario Caccamo,Tsuyoshi Tanaka,Steve Wannamaker,Thomas Schmutzer,John W. S. Brown,John W. S. Brown,Geoffrey B. Fincher,Nils Stein +73 more
TL;DR: An integrated and ordered physical, genetic and functional sequence resource that describes the barley gene-space in a structured whole-genome context and suggests that post-transcriptional processing forms an important regulatory layer.
Journal ArticleDOI
hERG K+ Channels: Structure, Function, and Clinical Significance
TL;DR: The human ether-a-go-go related gene (hERG) encodes the pore-forming subunit of the rapid component of the delayed rectifier K(+) channel, Kv11.1, which is the gene product involved in chromosome 7-associated long QT syndrome (LQTS), an inherited disorder associated with a markedly increased risk of ventricular arrhythmias and sudden cardiac death.
Journal ArticleDOI
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay,Karen R. Siklosi,Fredrick Van Goor,Kyle Kaniecki,Kyle Kaniecki,Haihui Yu,Neeraj Sharma,Anabela S. Ramalho,Anabela S. Ramalho,Margarida D. Amaral,Margarida D. Amaral,Ruslan Dorfman,Julian Zielenski,David L. Masica,Rachel Karchin,Linda Millen,Philip Thomas,George P. Patrinos,Mary Corey,Michelle Huckaby Lewis,Johanna M. Rommens,Carlo Castellani,Christopher M. Penland,Garry R. Cutting +23 more
TL;DR: It is illustrated that sourcing data directly from well-phenotyped subjects can address the gap in the ability to interpret clinically relevant genomic variation in patients with cystic fibrosis.
Journal ArticleDOI
Mechanism and regulation of the nonsense-mediated decay pathway
TL;DR: The mechanism of NMD is focused on with an emphasis on the role of RNA helicases in the transition from NMD complexes that recognize a PTC to those that promote mRNA decay.
Journal ArticleDOI
Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay
TL;DR: Protein quality control is used as a conceptual framework to organize what is known about nonsense-mediated mRNA decay, highlighting overarching similarities between these two polymer quality control pathways, where the protein quality control and NMD pathways intersect, and howprotein quality control can suggest new avenues for research into mRNA quality control.
References
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TL;DR: It is demonstrated that mammalian telomeres are transcribed into telomeric repeat–containing RNA (TERRA), and SMG factors represent a molecular link between TERRA regulation and the maintenance of telomere integrity.
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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
TL;DR: The acquisition and loss of mRNA-associated proteins accompanies the transition from the pioneer round to subsequent rounds of translation, and from translational competence to substrate for nonsense-mediated mRNA decay.
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Luca D. D'Andrea,Lynne Regan +1 more
TL;DR: The structure of TPRs is discussed and the diversity of arrangements and functions that are associated with these ubiquitous domains are highlighted, along with genetic analyses of the distribution.
Journal ArticleDOI
PTC124 targets genetic disorders caused by nonsense mutations
Ellen Welch,Elisabeth R. Barton,Jin Zhuo,Yuki Tomizawa,Westley J. Friesen,Panayiota Trifillis,Sergey Paushkin,Meenal Patel,Christopher R. Trotta,Seongwoo Hwang,Wilde Richard Gerald,Gary Mitchell Karp,James J. Takasugi,Guangming Chen,S. M. Jones,Hongyu Ren,Young-Choon Moon,Donald Thomas Corson,Anthony Turpoff,Jeffrey Allen Campbell,M. Morgan Conn,Atiyya Khan,Neil G. Almstead,Jean Hedrick,Anna Mollin,Nicole Risher,Marla Weetall,Shirley Yeh,Arthur Branstrom,Joseph M. Colacino,John Babiak,William D. Ju,Samit Hirawat,Valerie Northcutt,Langdon L. Miller,Phyllis Spatrick,Feng He,Masataka Kawana,Huisheng Feng,Allan Jacobson,Stuart W. Peltz,H. Lee Sweeney +41 more
TL;DR: The selectivity of PTC124 for premature termination codons, its well characterized activity profile, oral bioavailability and pharmacological properties indicate that this drug may have broad clinical potential for the treatment of a large group of genetic disorders with limited or no therapeutic options.
Journal ArticleDOI
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
TL;DR: It is proposed that regulated unproductive splice and translation (RUST), through the coupling of alternative splicing and NMD, may be a pervasive, underappreciated means of regulating protein expression.