Splice site mutation

Splice site consensus sequences that drive exon recognition are located at the very termini of introns.

[1] The deletion of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of abnormal proteins.

When a splice site mutation occurs, the mRNA transcript possesses information from these introns that normally should not be included.

[1] In 1993, Richard J. Roberts and Phillip Allen Sharp received the Nobel Prize in Physiology or Medicine for their discovery of "split genes".

[4] Using the model adenovirus in their research, they were able to discover splicing—the fact that pre-mRNA is processed into mRNA once introns were removed from the RNA segment.

[9] According to a research study conducted Hutton, M et al, a missense mutation occurring on the 5' region of the RNA associated with the tau protein was found to be correlated with inherited dementia (known as FTDP-17).

Consequently, more usage occurs on the 5' splice site and an increased proportion of tau transcripts that include exon 10 are created.

By comparing sequences with and without the splice site mutation, investigators were able to determine that a G-to-C nucleotide transversion occurs at the last position of the first intron.

A study has also shown that a type of Childhood Absence Epilepsy (CAE) causing febrile seizures may be linked to a splice site mutation in the sixth intron of the GABRG2 gene.

It is estimated that 15% of all point mutations causing human genetic diseases occur within a splice site.

In one particular study, a G to C substitution in the splice site of intron 2 produces a skipping effect in the messenger RNA transcript.

The splice site predictor can be a great tool for researchers studying human disease in this model organism.