The central dogma of molecular biology states that all of the information that makes you unique is housed in the nucleus of every cell in your body in the form of DNA. The human DNA is a string of 3.2 billion base pairs. Short sequences of DNA are transcribed to RNA; then this RNA is translated to a protein. A gene located in the DNA will contain introns and exons. Part of the process of preparing the RNA includes splicing out the introns, sections of RNA that do not code for protein. The presence of exonic splicing enhancers is essential for proper identification of splice sites by the cellular machinery.
Computational methods were used to identify 238 candidate ESEs. ESEs are clinically significant because synonymous point mutations previously thought to be silent mutations located in an ESEs can lead to exon skipping and the production of a non functioning protein.
A computational survey of candidate exonic splicing enhancer motifs in the model plant Arabidopsis thaliana.(Research article)(Clinical report)
May 21, 2007; Authors: Mihaela Pertea (corresponding author) ; Stephen M Mount [1,2]; Steven L Salzberg  Background Alternative splicing...
Researchers from Charles University, First Faculty of Medicine publish new studies and findings in the area of homocystinuria.(Report)
May 27, 2010; New research, 'The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer,...