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Gene Splicing

Gene splicing, also known as alternative splicing is an important post transcriptional activity in the eukaryotic organisms. Gene splicing provides a sound experimental basis in support of the multiple proteins per gene theory. Thousands of genes present in eukaryotic organisms produce millions of proteins through the gene splicing event which forms splice variants of pre-mRNA. Alternative splicing is a key mechanism that generates rich diversity in the eukaryotic transcriptome. A single locus can yield various differently spliced variants of mRNA, which are then translated into functionally different proteins. Alternative splicing can change how a gene acts in different tissues and developmental states by generating distinct splice variant mRNA composed of different selections of exons.

Gene Splicing Process

Alternative splicing is an important regulatory mechanism that modulates gene function by producing varied proteins in the eukaryotic organisms. Alternative splicing is a post transcriptional modification in the pre-mRNA. The DNA (genetic material) of any organism is first transcribed into this pre-mRNA which is also known as the precursor mRNA. The pre-mRNA contains the coding and non-coding portions of the genomic DNA known as exons and introns, respectively. Gene splicing event cuts the pre-mRNA to produce a variety of proteins that are a resultant of varied combinations of exon/intron retention and removal, both. Following types of alternative splicing has been observed to occur:

• Exon Skipping
• Intron Retention

Scientists speculate that within humans, more than half of the genes undergo gene splicing. A 8-10 bp region within the pre-mRNA sequence binds with protein factors which results in the formation of regions that turn gene splicing on or off. These are known as enhancer and suppressor regions. These enhancer and suppressor regions are identified on the pre-mRNA by some proteins known as splicing factors which bind to these regions. These splicing factors are serine rich and select splice sites in two modes: RS (arginine-serine) domain dependent and RS domain independent.

Gene Splicing Manifestations

Gene Splicing may produce multiple functional forms of genes and every functional isoform is capable of inducing remarkable diversity in the higher organisms(eukaryotes). Alternative splicing has been found to be a implicated in many a developmental processes such as sex determination, apoptosis and acoustic tuning in the ear.

Microarray Based Gene Splicing Detection

The use of microarray technology is not uncommon for researchers involved in large scale studies of alternative splicing. A microarray experiment can indicate the relative amounts of distinct splice variants in a tissue. By measuring the relative amounts of distinct splice variants in a variety of tissues, microarrays can test whether novel splice forms exist, and reveal the expression patterns in various tissues. Using AlleleID®, researchers could design microarrays junction probes and exon probes. This gives them the freedom to detect the junctions between the exon-exon combinations, exon-intron combinations and the splice variants, as well as the length of exon. which is a result of the alternative splicing event.

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