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The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]
, 2018 Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan +4 more
core +1 more source
Cellular Physiology and Biochemistry, 2018 Background/Aims: Alternative splicing and DNA damage exhibit cross-regulation, with not only DNA damage inducing changes in alternative splicing, but alternative splicing itself possibly modulating the DNA damage response (DDR).
Guangming Wang +10 more
doaj +1 more source
Transcriptome Bioinformatical Analysis of Vertebrate Stages of Schistosoma japonicum Reveals Alternative Splicing Events. [PDF]
PLoS ONE, 2015 Alternative splicing is a molecular process that contributes greatly to the diversification of proteome and to gene functions. Understanding the mechanisms of stage-specific alternative splicing can provide a better understanding of the development of ...
Xinye Wang +4 more
doaj +1 more source
Alternative splicing in breast cancer
Journal of Bio-X Research, 2023 Alternative splicing allows a gene to produce multiple proteins and is the main source of human proteome diversity. Aberrant regulation of alternative splicing produces proteins with different structures and can lead to altered protein function ...
Xin Wen, Ze Yan, Li Sha
doaj +1 more source
Alternative splicing and disease
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009 Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease.
Tazi, Jamal +2 more
openaire +4 more sources
Predominant contribution of cis-regulatory divergence in the evolution of mouse alternative splicing [PDF]
, 2015 Divergence of alternative splicing represents one of the major driving forces to shape phenotypic diversity during evolution. However, the extent to which these divergences could be explained by the evolving cis-regulatory versus trans-acting factors ...
Ballegeer, Marlies +4 more
core +2 more sources
Significance of alternative splicing in cancer cells
Chinese Medical Journal, 2020 . Objective. Alternative splicing can generate various structural and functional protein isoforms. Recently, accumulating evidence shows a relationship between alternative splicing and cancer.
Fei Qi +6 more
doaj +1 more source
Regulation of splicing factors by alternative splicing and NMD is conserved between kingdoms yet evolutionarily flexible. [PDF]
, 2015 Ultraconserved elements, unusually long regions of perfect sequence identity, are found in genes encoding numerous RNA-binding proteins including arginine-serine rich (SR) splicing factors.
Brenner, Steven, Lareau, Liana
core +2 more sources
The neurogenetics of alternative splicing [PDF]
Nature Reviews Neuroscience, 2016 Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in mammals and is controlled by specialized RNA-binding proteins. The misregulation of splicing is implicated in multiple neurological disorders. We describe recent mouse genetic studies of alternative splicing that reveal its critical role in both neuronal ...
Celine K. Vuong +2 more
openaire +3 more sources
The Alternative Choice of Constitutive Exons throughout Evolution [PDF]
, 2007 Alternative cassette exons are known to originate from two processes exonization of intronic sequences and exon shuffling. Herein, we suggest an additional mechanism by which constitutively spliced exons become alternative cassette exons during evolution.
Adi Doron-Faigenboim +9 more
core +5 more sources