A new view of RNA: the 1989 discovery by Sidney Altman and Thomas Cech [PDF]
The 1989 Nobel Prize Laureates in Chemistry Sidney Altman and Thomas Robert Cech made one of the most important discoveries in molecular genetics. Independently of each other, they demonstrated new experimental evidence that RNA molecules can not only ...
M. V. Grigorieva +2 more
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Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at
Eugenia Fraile-Bethencourt +5 more
doaj +1 more source
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling.
Eugenia Fraile-Bethencourt +5 more
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Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander +8 more
core +1 more source
CiLiQuant: Quantification of RNA Junction Reads Based on Their Circular or Linear Transcript Origin
Distinguishing circular RNA reads from reads derived from the linear host transcript is a challenging task because of sequence overlap. We developed a computational approach, CiLiQuant, that determines the relative circular and linear abundance of ...
Annelien Morlion +13 more
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Quantification of pre-mRNA escape rate and synergy in splicing [PDF]
Splicing reactions generally combine high speed with accuracy. However, some of the pre-mRNAs escape the nucleus with a retained intron. Intron retention can control gene expression and increase proteome diversity.
Becskei, Attila +13 more
core +1 more source
Perturbation of chromatin structure globally affects localization and recruitment of splicing factors [PDF]
Chromatin structure is an important factor in the functional coupling between transcription and mRNA processing, not only by regulating alternative splicing events, but also by contributing to exon recognition during constitutive splicing.
Risso, Guillermo, J +47 more
core +1 more source
Introns: the “dark matter” of the eukaryotic genome
The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While historically introns were regarded merely as the sequences that are removed to produce spliced ...
Kaitlin N. Girardini +4 more
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Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]
: BACKGROUND: Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced.
Srirangalingam, U +5 more
core +1 more source
Ubiquitous eukaryotic non-coding circular RNAs are involved in numerous co- and post-transcriptional regulatory mechanisms. Recently, we reported full-length intronic circular RNAs (flicRNAs) in Entamoeba histolytica, with 3′ss–5′ss ligation points and 5′
Jesús Alberto García-Lerena +3 more
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