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 …

The Genome Sequence of Drosophila melanogaster

MD Adams, SE Celniker, RA Holt, CA Evans… - Science, 2000 - science.org
The fly Drosophila melanogaster is one of the most intensively studied organisms in biology
and serves as a model system for the investigation of many developmental and cellular …

The significant other: splicing by the minor spliceosome

JJ Turunen, EH Niemelä, B Verma… - Wiley Interdisciplinary …, 2013 - Wiley Online Library
The removal of non‐coding sequences, introns, from the mRNA precursors is an essential
step in eukaryotic gene expression. U12‐type introns are a minor subgroup of introns …

Splicing double: insights from the second spliceosome

AA Patel, JA Steitz - Nature reviews Molecular cell biology, 2003 - nature.com
The genomes of most multicellular organisms contain a new class of introns that have non-
canonical consensus sequences. These minor-class introns occur extremely rarely and are …

Spliceosomal UsnRNP biogenesis, structure and function

CL Will, R Lührmann - Current opinion in cell biology, 2001 - Elsevier
Significant advances have been made in elucidating the biogenesis pathway and three-
dimensional structure of the UsnRNPs, the building blocks of the spliceosome. U2 and …

New connections between splicing and human disease

RA Padgett - Trends in Genetics, 2012 - cell.com
The removal by splicing of introns from the primary transcripts of most mammalian genes is
an essential step in gene expression. Splicing is performed by large, complex …

[HTML][HTML] Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD‐box protein

CL Will, H Urlaub, T Achsel, M Gentzel, M Wilm… - The EMBO …, 2002 - embopress.org
Mass spectrometry was used to identify novel proteins associated with the human 17S U2
snRNP and one of its stable subunits, SF3b. Several additional proteins were identified …

Origin of spliceosomal introns and alternative splicing

M Irimia, SW Roy - Cold Spring Harbor perspectives in …, 2014 - cshperspectives.cshlp.org
In this work we review the current knowledge on the prehistory, origins, and evolution of
spliceosomal introns. First, we briefly outline the major features of the different types of …

Molecular architecture of the multiprotein splicing factor SF3b

MM Golas, B Sander, CL Will, R Luhrmann, H Stark - Science, 2003 - science.org
The splicing factor SF3b is a multiprotein complex essential for the accurate excision of
introns from pre-messenger RNA. As an integral component of the U2 small nuclear …

Cellular machineries for chromosomal DNA repair

CL Peterson, J Côté - Genes & development, 2004 - genesdev.cshlp.org
Each day a cell must face a constant onslaught of DNA lesions. Although we tend to worry
most about environmental sources of DNA damage (eg, chemical agents, UV radiation …