Results 21 to 30 of about 127,514 (315)

Requirement for highly efficient pre-mRNA splicing during Drosophila early embryonic development

eLife, 2014
Drosophila syncytial nuclear divisions limit transcription unit size of early zygotic genes. As mitosis inhibits not only transcription, but also pre-mRNA splicing, we reasoned that constraints on splicing were likely to exist in the early embryo, being ...
Leonardo Gastón Guilgur, Pedro Prudêncio, Daniel Sobral, Denisa Liszekova, André Rosa, Rui Gonçalo Martinho   +5 more
doaj   +1 more source

The influence of 4-thiouridine labeling on pre-mRNA splicing outcomes.

PLoS ONE, 2021
Metabolic labeling is a widely used tool to investigate different aspects of pre-mRNA splicing and RNA turnover. The labeling technology takes advantage of native cellular machineries where a nucleotide analog is readily taken up and incorporated into ...
Jessie A C Altieri, Klemens J Hertel
doaj   +1 more source

Epigenetics in Alternative Pre-mRNA Splicing [PDF]

Cell, 2011
Alternative splicing plays critical roles in differentiation, development, and disease and is a major source for protein diversity in higher eukaryotes. Analysis of alternative splicing regulation has traditionally focused on RNA sequence elements and their associated splicing factors, but recent provocative studies point to a key function of chromatin
Luco, Reini F., Alló, Mariano, Schor, Ignacio Esteban, Kornblihtt, Alberto Rodolfo, Misteli, Tom   +4 more
openaire   +3 more sources

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Frontiers in Genetics, 2020
BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants.
Sai Wang, Sai Wang, Yixiu Wang, Jinchao Wang, Zhiying Liu, Ruixiao Zhang, Xiaomeng Shi, Yue Han, Wencong Guo, Irene Bottillo, Leping Shao   +10 more
doaj   +1 more source

Pre-mRNA Splicing in the Nuclear Landscape [PDF]

Cold Spring Harbor Symposia on Quantitative Biology, 2019
Eukaryotic gene expression requires the cumulative activity of multiple molecular machines to synthesize and process newly transcribed pre-messenger RNA. Introns, the noncoding regions in pre-mRNA, must be removed by the spliceosome, which assembles on the pre-mRNA as it is transcribed by RNA polymerase II (Pol II).
Carrocci, Tucker J., Neugebauer, Karla M.   +1 more
openaire   +2 more sources

Perturbation of chromatin structure globally affects localization and recruitment of splicing factors [PDF]

, 2012
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, Risso Guillermo J., Lleres, D, Jernej Ule, Ignacio E. Schor (120406), Llères, David, Llères David, Pawellek, A., Ule, J., Kornblihtt Alberto R., Schor, Ignacio, E, Risso, GJ, Ule, Jernej, Lamond, Angus I.; id_orcid, Lamond, A.I., Alberto R. Kornblihtt (120413), Lamond, Angus, I, Kornblihtt, Alberto, R, Pawellek, Andrea, Andrea Pawellek, Alberto R Kornblihtt, David Llères (68840), Guillermo J. Risso (120408), Andrea Pawellek (120410), Risso, Guillermo J., Schor*, I.E., Schor, I.E., Lamond Angus I., Schor, Ignacio E., Ule, J, Ule Jernej, Risso, G.J., David Llères, Kornblihtt, A.R., Ignacio E Schor, Pawellek Andrea, Lleres*, D., Lamond, AI, Guillermo J Risso, Angus I Lamond, Kornblihtt, Alberto R., Llères, D., Schor Ignacio E., Pawellek, A, Schor, IE, Angus I. Lamond (13065), Kornblihtt, AR, Jernej Ule (115588)   +47 more
core   +1 more source

A quantitative, high-throughput reverse genetic screen reveals novel connections between Pre-mRNA splicing and 5' and 3' end transcript determinants. [PDF]

PLoS Genetics, 2012
Here we present the development and implementation of a genome-wide reverse genetic screen in the budding yeast, Saccharomyces cerevisiae, that couples high-throughput strain growth, robotic RNA isolation and cDNA synthesis, and quantitative PCR to allow
Laura-Oana Albulescu, Nevin Sabet, Mohanram Gudipati, Nicholas Stepankiw, Zane J Bergman, Tim C Huffaker, Jeffrey A Pleiss   +6 more
doaj   +1 more source

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]

, 2014
Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj, Lisa Roberts, Korir, Paul K, Cathal Seoighe, Raj Ramesar, Seoighe, Cathal, Paul K Korir, Roberts, Lisa   +7 more
core   +1 more source

Quantitative prediction of variant effects on alternative splicing in MAPT using endogenous pre-messenger RNA structure probing

eLife, 2022
Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging.
Jayashree Kumar, Lela Lackey, Justin M Waldern, Abhishek Dey, Anthony M Mustoe, Kevin M Weeks, David H Mathews, Alain Laederach   +7 more
doaj   +1 more source

Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]

, 2013
: 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, Navaratnam, N, Chew, SL, Norman, D, Khoo, B, Akker, SA   +5 more
core   +1 more source