Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

[HTML][HTML] 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 …

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 …

Mechanisms and regulation of alternative pre-mRNA splicing

Y Lee, DC Rio - Annual review of biochemistry, 2015 - annualreviews.org
Precursor messenger RNA (pre-mRNA) splicing is a critical step in the posttranscriptional
regulation of gene expression, providing significant expansion of the functional proteome of …

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

A Sveen, S Kilpinen, A Ruusulehto, RA Lothe… - Oncogene, 2016 - nature.com
Alternative splicing is a widespread process contributing to structural transcript variation and
proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both …

Pre-mRNA splicing in disease and therapeutics

RK Singh, TA Cooper - Trends in molecular medicine, 2012 - cell.com
In metazoans, alternative splicing of genes is essential for regulating gene expression and
contributing to functional complexity. Computational predictions, comparative genomics, 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 …

The pathobiology of splicing

AJ Ward, TA Cooper - The Journal of Pathology: A Journal of …, 2010 - Wiley Online Library
Ninety‐four percent of human genes are discontinuous, such that segments expressed as
mRNA are contained within exons and separated by intervening segments, called introns …

[HTML][HTML] Spliceosomal snRNA epitranscriptomics

P Morais, H Adachi, YT Yu - Frontiers in genetics, 2021 - frontiersin.org
Small nuclear RNAs (snRNAs) are critical components of the spliceosome that catalyze the
splicing of pre-mRNA. snRNAs are each complexed with many proteins to form RNA-protein …

[HTML][HTML] Association of vitamin D metabolism gene polymorphisms with autoimmunity: evidence in population genetic studies

AI Ruiz-Ballesteros, MR Meza-Meza… - International journal of …, 2020 - mdpi.com
A high prevalence of vitamin D (calcidiol) serum deficiency has been described in several
autoimmune diseases, including multiple sclerosis (MS), rheumatoid arthritis (AR), and …