Expansion of the eukaryotic proteome by alternative splicing

TW Nilsen, BR Graveley - Nature, 2010 - nature.com
The collection of components required to carry out the intricate processes involved in
generating and maintaining a living, breathing and, sometimes, thinking organism is …

Splicing mutations in human genetic disorders: examples, detection, and confirmation

A Anna, G Monika - Journal of applied genetics, 2018 - Springer
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

FO Desmet, D Hamroun, M Lalande… - Nucleic acids …, 2009 - academic.oup.com
Thousands of mutations are identified yearly. Although many directly affect protein
expression, an increasing proportion of mutations is now believed to influence mRNA …

Context-dependent control of alternative splicing by RNA-binding proteins

XD Fu, M Ares Jr - Nature Reviews Genetics, 2014 - nature.com
Sequence-specific RNA-binding proteins (RBPs) bind to pre-mRNA to control alternative
splicing, but it is not yet possible to read the'splicing code'that dictates splicing regulation on …

Sequence, structure, and context preferences of human RNA binding proteins

D Dominguez, P Freese, MS Alexis, A Su, M Hochman… - Molecular cell, 2018 - cell.com
RNA binding proteins (RBPs) orchestrate the production, processing, and function of
mRNAs. Here, we present the affinity landscapes of 78 human RBPs using an unbiased …

Principles of long noncoding RNA evolution derived from direct comparison of transcriptomes in 17 species

H Hezroni, D Koppstein, MG Schwartz, A Avrutin… - Cell reports, 2015 - cell.com
The inability to predict long noncoding RNAs from genomic sequence has impeded the use
of comparative genomics for studying their biology. Here, we develop methods that use RNA …

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

Z Wang, CB Burge - Rna, 2008 - rnajournal.cshlp.org
Alternative splicing of pre-mRNAs is a major contributor to both proteomic diversity and
control of gene expression levels. Splicing is tightly regulated in different tissues and …

Splicing in disease: disruption of the splicing code and the decoding machinery

GS Wang, TA Cooper - Nature Reviews Genetics, 2007 - nature.com
Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

Chromatin organization marks exon-intron structure

S Schwartz, E Meshorer, G Ast - Nature structural & molecular biology, 2009 - nature.com
An increasing body of evidence indicates that transcription and splicing are coupled, and it
is accepted that chromatin organization regulates transcription. Little is known about the …

Regulation of alternative splicing through coupling with transcription and chromatin structure

S Naftelberg, IE Schor, G Ast… - Annual review of …, 2015 - annualreviews.org
Alternative precursor messenger RNA (pre-mRNA) splicing plays a pivotal role in the flow of
genetic information from DNA to proteins by expanding the coding capacity of genomes …