Table 1.
Genes related to Ca2+ regulation and EC coupling that display misregulated alternative splicing in DM1 patients and DM mouse models
| Gene and exon | Splice outcome in DM1 | Human DM1 | HSALR mice | Mbnl1 knockout mice | Functional consequence |
|---|---|---|---|---|---|
| CLCN1 exon7a (25,26) | Inclusion | +++ | +++ | +++ | Loss of Cl– conductance, repetitive action potentials |
| SERCA1 exon22 (15,44) | Skipping | +++ | +++ | +++ | Unknown |
| RyR1 AS1 (37,44) | Skipping | ++ | ++ | ? | ↑ depolarization-dependent Ca2+ release |
| CaV1.1 exon29 (this report) | Skipping | +++ | + | + | Altered gating, ↑ Ca2+ influx, ↑ Ca2+ transient |
| Junctin/Junctate (20) | skipping/3′-end formation | ? | ++ | ++ | Unknown |
‘+++’, ‘++’ or ‘+’ indicate large, moderate or minor changes of an alternative exon in DM1 patients or mouse models. ‘?’ indicates that alternative exon has not been determined.