biostudies-literatureZhou CNational Ataxia FoundationNINDS NIH HHSNational Institutes of HealthNIGMS NIH HHSNIH HHS2230-2240https://www.ebi.ac.uk/biostudies/studies/S-EPMC10840700biostudies-literatureUnknown38(12)<h4>Background</h4>Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.<h4>Objective</h4>In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis.<h4>Methods</h4>Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction. The tendency of expanded PPP2R2B-AS1 (expPPP2R2B-AS1) RNA to form foci, a marker of toxic processes involving mutant RNAs, was examined in SCA12 cell models by fluorescence in situ hybridization. The apoptotic effect ofMovement disorders : official journal of the Movement Disorder SocietyBidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.PMC10840700NS112687GM136897R21 NS112796NS113820R21 NS112687R01 NS122756R01 GM136897NS093287R21 NS093287NS122756RF1 NS113820NS112796Margolis RLZhou CWu BDeng LJahanbakhsh FYing MLi PPLiu HBfalseBidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.<h4>Background</h4>Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.<h4>Objective</h4>In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis.<h4>Methods</h4>Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction. The tendency of expanded PPP2R2B-AS1 (expPPP2R2B-AS1) RNA to form foci, a marker of toxic processes involving mutant RNAs, was examined in SCA12 cell models by fluorescence in situ hybridization. The apoptotic effect of2023-01-01T00:00:00Z2023 Dec2025-04-04T01:18:01.728Z2025-04-04T01:18:01.728ZS-EPMC108407003773592310.1002/mds.29605