Allele-Specific Regulation of PAXIP1-AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice.

ABSTRACT: Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable psychiatric disorders with complex genetic and environmental underpinnings. Allele-specific expression (ASE) has emerged as a critical mechanism linking noncoding genetic variants to disease risk through epigenetic and environmental modulation. Here, whole-genome and transcriptome analyses of monozygotic twin pairs discordant for BPD or SCZ are performed, identifying that noncoding genetic variants drive differential ASE patterns of long noncoding RNAs (lncRNAs) in affected individuals compared to their unaffected co-twins. The rs112651172 (C/G) is identified as a functional ASE variant regulating PAXIP1-AS1 expression via allele-specific transcription factor binding: SMC3 binds the C allele, while CEBPB binds the G allele

SUBMITTER: Ni C 

PROVIDER: S-EPMC12667460 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature