ABOVE: The RNA-Induced Silencing Complex (RISC) is a multi-protein complex loaded with small lengths of regulatory RNA specific to regions on target gene transcripts. Once activated, it scans the cytoplasm for complementary mRNAs, binds, and degrades them in a form of post-transcriptional gene regulation.
This page was produced as an assignment for Genetics 677, a undergraduate course at UW-Madison
One broadly conserved miRNAtarget was found for capn3 transcript 3' UTRs on TargetScanHuman 6.1:
Target miRNA(s) Conserved? UACCUCA let-7/98/4458/4500 7mer-1A (exact match for positions 2-7 of mature miRNA, followed by 'A' [1])
Mutant Phenotypes
What happens when the capn3 gene is abnormally, or not expressed?
Of 465 unique capn3 mutations, at least 290 LGMD2A-causing capn3 mutations have been characterized so far, the majority being missense mutations (exchange of one amino acid at a position with a different one) with a small percentage of nonsense and frameshift mutations [ref]. A searchable list of all currently known capn3 mutations, pathogenic or otherwise, is available on the CAPN3 page of the Leiden Muscular Dystrophy Pages (http://www.dmd.nl/capn3_seqvar.html)
Examples of capn3 Variants Associated with LGMD2A and Other Mutant Phenotypes (from: Ensembl)
Discussion
Capn3 has one known miRNA family associated with its regulation (let-7/98/4458/4500), which target specific 7-mer sequences in the 3' untranslated region (UTR) on capn3 mRNAs. No literature could be found on miRNA regulation of capn3, so confirming the interaction and studying the regulation and normal expression of these miRNAs could provide more information on how capn3 is regulated in normal and disease tissues.