Each of the four PDE4 gene isoforms (PDE4 A-D) undergo extensive alternative splicing via alternative transcription initiation sites, producing unique amino termini and yielding multiple splice variant forms from each gene isoform termed long, short, super-short and truncated super-short.
The leukocyte specific transcript-1 is a gene with extensive alternative splicing and is encoded within the TNF region of the HLA complex, and plays a role in inflammatory and infectious diseases [17], [18].
Extensive alternative splicing and a finely, by transcriptional and post-transcriptional mechanisms, controlled expression regulate survivin [ 14].
Many of these software were developed to manage the transcriptome of higher eukaryotes, which are characterized by a large number of introns that determine extensive alternative splicing.
The human WNK1 gene codes for a high number of mRNA transcripts and extensive alternative splicing has been described for exons 9, 11, and 12 [Verissimo and Jordan, 2001].
CD44, the receptor for hyaluronan [1], is encoded by a single gene on chromosome 11p13, but actually represents a polymorphic group of transmembrane glycoproteins owing to extensive alternative splicing and post-translational modifications [2].
The studies described here demonstrate that WC1 molecules are encoded by a large, multi-gene family whose transcripts undergo extensive alternative splicing.
In a recent detailed study, over 8,000 lncRNA genes have been identified, with a mean intron density of ~1.9 per kilobase, and extensive alternative splicing of these non-coding RNAs has been detected, with ~2.3 RNA isoforms per gene [ 103].
Understanding the relationship between phenotype and underlying genetic lesion is made more complex by the extensive alternative splicing of AMELX such that a point mutation could potentially affect several different amelogenin proteins but have no effect on others.
