14 Facts About Alternative splicing

Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins.

Biologically relevant alternative splicing occurs as a normal phenomenon in eukaryotes, where it increases the number of proteins that can be encoded by the genome.

Mechanisms of alternative splicing are highly variable, and new examples are constantly being found, particularly through the use of high-throughput techniques.

Abnormal variations in Alternative splicing are implicated in disease; a large proportion of human genetic disorders result from Alternative splicing variants.

Abnormal Alternative splicing variants are thought to contribute to the development of cancer, and Alternative splicing factor genes are frequently mutated in different types of cancer.

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In 2021, it was discovered that the genome of adenovirus type 2, the adenovirus in which alternative splicing was first identified, was able to produce a much greater variety of mRNA than previously thought.

The majority of Alternative splicing repressors are heterogeneous nuclear ribonucleoproteins such as hnRNPA1 and polypyrimidine tract binding protein .

Genuine alternative splicing occurs in both protein-coding genes and non-coding genes to produce multiple products .

Comparative studies indicate that alternative splicing preceded multicellularity in evolution, and suggest that this mechanism might have been co-opted to assist in the development of multicellular organisms.

One study found that a relatively small percentage of alternative splicing variants were significantly higher in frequency in tumor cells than normal cells, suggesting that there is a limited set of genes which, when mis-spliced, contribute to tumor development.

One example of a specific Alternative splicing variant associated with cancers is in one of the human DNMT genes.

High-throughput approaches to investigate Alternative splicing have been developed, such as: DNA microarray-based analyses, RNA-binding assays, and deep sequencing.

When combined with Alternative splicing assays, including in vivo reporter gene assays, the functional effects of polymorphisms or mutations on the Alternative splicing of pre-mRNA transcripts can then be analyzed.

Use of reporter assays makes it possible to find the splicing proteins involved in a specific alternative splicing event by constructing reporter genes that will express one of two different fluorescent proteins depending on the splicing reaction that occurs.