Deep intronic mutations and human disease

R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

How introns enhance gene expression

O Shaul - The international journal of biochemistry & cell biology, 2017 - Elsevier
In many eukaryotes, including mammals, plants, yeast, and insects, introns can increase
gene expression without functioning as a binding site for transcription factors. This …

Local regulation of gene expression by lncRNA promoters, transcription and splicing

JM Engreitz, JE Haines, EM Perez, G Munson, J Chen… - Nature, 2016 - nature.com
Mammalian genomes are pervasively transcribed, to produce thousands of long non-coding
RNAs (lncRNAs),. A few of these lncRNAs have been shown to recruit regulatory complexes …

Exon-intron circular RNAs regulate transcription in the nucleus

Z Li, C Huang, C Bao, L Chen, M Lin, X Wang… - Nature structural & …, 2015 - nature.com
Noncoding RNAs (ncRNAs) have numerous roles in development and disease, and one of
the prominent roles is to regulate gene expression. A vast number of circular RNAs …

Analysis of nascent RNA identifies a unified architecture of initiation regions at mammalian promoters and enhancers

LJ Core, AL Martins, CG Danko, CT Waters, A Siepel… - Nature …, 2014 - nature.com
Despite the conventional distinction between them, promoters and enhancers share many
features in mammals, including divergent transcription and similar modes of transcription …

RNA-RNA interactions enable specific targeting of noncoding RNAs to nascent Pre-mRNAs and chromatin sites

JM Engreitz, K Sirokman, P McDonel, AA Shishkin… - Cell, 2014 - cell.com
Intermolecular RNA-RNA interactions are used by many noncoding RNAs (ncRNAs) to
achieve their diverse functions. To identify these contacts, we developed a method based on …

[HTML][HTML] U1 snRNP increases RNA Pol II elongation rate to enable synthesis of long genes

CA Mimoso, K Adelman - Molecular cell, 2023 - cell.com
The expansion of introns within mammalian genomes poses a challenge for the production
of full-length messenger RNAs (mRNAs), with increasing evidence that these long AT-rich …

The RNA polymerase II carboxy-terminal domain (CTD) code

D Eick, M Geyer - Chemical reviews, 2013 - ACS Publications
The smallest viable unit of life is the cell. From bacteria to mammals, all cells use the same
nucleic acid-based universal code for the maintenance and inheritance of genetic …

Dynamic integration of splicing within gene regulatory pathways

U Braunschweig, S Gueroussov, AM Plocik… - Cell, 2013 - cell.com
Precursor mRNA splicing is one of the most highly regulated processes in metazoan
species. In addition to generating vast repertoires of RNAs and proteins, splicing has a …

The RNA polymerase II CTD coordinates transcription and RNA processing

JP Hsin, JL Manley - Genes & development, 2012 - genesdev.cshlp.org
The C-terminal domain (CTD) of the RNA polymerase II largest subunit consists of multiple
heptad repeats (consensus Tyr1–Ser2–Pro3–Thr4–Ser5–Pro6–Ser7), varying in number …