Allele‐Specific Regulation of PAXIP1‐AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice by Chaoying Ni, He Chen, Qiaqi Chen, Yangyang Liao, Yunqian Wang, Linyan Ye, Xiaohui Wu, Hongyu Ni, Tingyun Jiang, Shufen Li, Qiong Yang, Hong Xue, Zhongju Wang, Feng Yi, Cunyou Zhao instant download

Allele‐Specific Regulation of PAXIP1‐AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice by Chaoying Ni, He Chen, Qiaqi Chen, Yangyang Liao, Yunqian Wang, Linyan Ye, Xiaohui Wu, Hongyu Ni, Tingyun Jiang, Shufen Li, Qiong Yang, Hong Xue, Zhongju Wang, Feng Yi, Cunyou Zhao instant download

Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable1. Introduction Major psychiatric disorders, including psychiatric disorders with complex genetic and environmental underpinnings. schizophrenia (SCZ) and bipolar disorder Allele-specific expression (ASE) has emerged as a critical mechanism linking(BPD), are highly heritable and complexnoncoding genetic variants to disease risk through epigenetic andmental illnesses.[1] Recent studies haveenvironmental modulation. Here, whole-genome and transcriptome analyses demonstrated a significant genetic overlapof monozygotic twin pairs discordant for BPD or SCZ are performed,between these two disorders, with a highdegree of genetic correlation[2] and elevated identifying that noncoding genetic variants drive differential ASE patterns of relative risks among the relatives of bothlong noncoding RNAs (lncRNAs) in affected individuals compared to theirBPD and SCZ patients.[3,4] The complexity unaffected co-twins. The rs112651172 (C/G) is identified as a functional ASEof these disorders arises not only from thevariant regulating PAXIP1-AS1 expression via allele-specific transcriptionheterogeneity of their phenotypes but alsofactor binding: SMC3 binds the C allele, while CEBPB binds the G allele, from their multi-factorial nature, involving a combination of genetic, developmental, resulting in G allele-specific upregulation in patients. Eevated PAXIP1-AS1 and environmental factors.[5–7]expression is consistently observed in SCZ and BPD postmortem brain In recent years, genome-wide associatissues from PsychENCODE or LIBD datasets. In mice, G alleletion studies (GWAS) have emerged as aoverexpression in the prefrontal cortex induces anxiety- and depression-likepowerful approach for identifying numerbehaviors, social deficits, memory impairments, sensorimotor gatingous genetic variants associated with SCZabnormalities, and reduced neuronal excitability. Mechanistically, PAXIP1-AS1or BPD. Notably, the majority of…