Results 31 to 40 of about 2,885,338 (147)

Rare occurrence of cryptic 5’ splice sites by downstream 3’ splice site/exon boundary mutations in a heavy-ion-induced egy1-4 allele of Arabidopsis thaliana

Frontiers in Plant Science
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been ...
Alvin Sanjaya, Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara, Makoto T. Fujiwara   +10 more
doaj   +1 more source

Urine mRNA to identify a novel pseudoexon causing dystrophinopathy

Annals of Clinical and Translational Neurology, 2019
In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine “liquid biopsy,” droplet digital PCR, and sequencing of PCR products to identify a novel cryptic ...
Layal Antoury, Ningyan Hu, Basil Darras, Thurman M. Wheeler   +3 more
doaj   +1 more source

Intrinsic differences between authentic and cryptic 5 ' splice sites [PDF]

, 2003
Cryptic splice sites are used only when use of a natural splice site is disrupted by mutation. To determine the features that distinguish authentic from cryptic 5' splice sites (5'ss), we systematically analyzed a set of 76 cryptic 5'ss derived from 46 ...
Roca, Xavier, Sachidanandam, Ravi, Sachidanandam, R., Krainer, A. R., Krainer, Adrian R., Roca, X.   +5 more
core   +1 more source

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v1; ref status: indexed, http://f1000r.es/4nq]

F1000Research, 2014
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source

Alternative 3′ splice site activation requires U1 snRNP binding to downstream cryptic 5′ splice sites.

, 2013
(A) U1-70K minigene constructs used for in vivo splicing analysis (see panel B), including exons 7, 7a, and 8; the arrows indicate the primers used for RT-PCR analysis.
Ekaterina Khrameeva (473533), Patrick Le Querrec (473534), Albrecht Bindereif (8014), Lee-Hsueh Hung (473532), Mikhail S. Gelfand (10782), Tanja Dorothe Rösel-Hillgärtner (473531)   +5 more
core   +1 more source

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. [PDF]

PLoS ONE, 2013
Several unclassified variants (UVs) have been identified in splicing regions of disease-associated genes and their characterization as pathogenic mutations or benign polymorphisms is crucial for the understanding of their role in disease development.
Mara Colombo, Giovanna De Vecchi, Laura Caleca, Claudia Foglia, Carla B Ripamonti, Filomena Ficarazzi, Monica Barile, Liliana Varesco, Bernard Peissel, Siranoush Manoukian, Paolo Radice   +10 more
doaj   +1 more source

Alternative splicing attenuates transgenic expression directed by the apolipoprotein E promoter-enhancer based expression vector pLIV11[S]

Journal of Lipid Research, 2010
The plasmid vector pLIV11 is used commonly to achieve liver-specific expression of genes of interest in transgenic mice and rabbits. Expression is driven by the human apolipoprotein (apo)E 5′ proximal promoter, which includes 5 kb of upstream sequence ...
Dongmei Cheng, Philip S. MacArthur, Shunxing Rong, John S. Parks, Gregory S. Shelness   +4 more
doaj   +1 more source

Effect of the modification of the intronic cryptic splice site on minigene splicing profile.

, 2018
The upper panel shows the location and predicted splice scores of the natural and cryptic (wild type and with the different mutations) splice sites. The intronic cryptic splice site was either abolished by elimination of the GT (c.1199+18G>C mutation) or
Brage S. Andresen (2795641), Ainhoa Martínez-Pizarro (2557711), Belén Pérez (2536582), Lourdes R. Desviat (2536576), Maja Dembic (5131139)   +4 more
core   +1 more source

Computational methods for splice site prediction [PDF]

, 2006
Taher L. Computational methods for splice site prediction. Bielefeld (Germany): Bielefeld University; 2006.Completing the genome sequence of a given organism is just the beginning of a series of subsequent tasks, namely, the discovery of the ...
Taher, Leila
core  

Computational Analysis of Cryptic Splice Sites [PDF]

, 2017
DNA in the nucleus of all eukaryotes is transcribed into mRNA where it is then translated into proteins. The DNA which is transcribed into mRNA is composed of coding and non-coding regions called exons and introns, respectively.
Mohanan, Remya
core   +1 more source