However, although many thousands of alternatively spliced transcripts are routinely detected in RNA - seq studies, reliable large - scale mass spectrometry - based proteomics analyses identify only a small fraction of annotated
alternative isoforms.
The clearest finding from proteomics experiments is that most human genes have a single main protein isoform, while
those alternative isoforms that are identified tend to be the most biologically plausible: those with the most cross-species conservation and those that do not compromise functional domains.
As a proxy for splicing alteration, we computed the Shannon's entropy on the relative abundance of a gene's alternative splicing isoforms (Methods)-- higher values corresponding to more stochastic production of
alternative isoforms.
Not exact matches
However, its extreme length (> 13kb), number of exons (> 50) and high level of
alternative splicing means CACNA1C
isoform structure and expression is poorly understood, making it difficult to identify which gene
isoforms confer disease risk and where they are expressed.
(D) Diagrammatic image of four transcript
isoforms that were detected as
alternative splice variants resulting from a SNP in the 2nd intron of bsl1 - 2.
The usage of a major
isoform across tissues and biological conditions has been reported as a general characteristic of genes38, 39, and has lead to extensive debate on the physiological relevance of regulated
alternative splicing39.
More than half of mammalian genes generate multiple messenger RNA
isoforms that differ in their 3 ′ untranslated regions (3 ′ UTRs) and therefore in regulatory sequences, often associated with cell proliferation and cancer; however, the mechanisms coordinating
alternative 3 ′ - UTR processing for specific mRNA populations remain poorly defined.