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Received August 4, 2003
Revised September 3, 2003
Accepted after revision November 26, 2003
1 Ulm University
* To whom correspondence should be addressed. E-mail: frank.lehmann-horn{at}medizin.uni-ulm.de.
Semi-conserved exon boundaries in members of the CACNA1 gene family result in recurring pre-mRNA splicing patterns. The resulting variations in the encoded pore- forming subunit of the voltage-gated calcium channel affect functionally significant regions, such as the vicinity of the voltage-sensing S4 segments or the intracellular loops that are important for protein interaction. In addition to generating functional diversity, RNA splicing regulates the quantitative expression of other splice isoforms of the same gene by producing transcripts with pre-mature stop codons which encode two-domain or three-domain channels. An overview of some of the known splice isoforms of the a1 calcium channel subunits and their significance is given.
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