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Transition of allele-specific DNA hydroxymethylation at regulatory loci is associated with phenotypic variation in monozygotic twins discordant for psychiatric disorders by Junping Ye; Zhanwang Huang; Qiyang Li; Zhongwei Li; Yuting Lan; Zhongju Wang; Chaoying Ni; Xiaohui Wu; Tingyun Jiang; Yujing Li; Qiong Yang; Junghwa Lim; Cun-Yan Ren; Meijun Jiang; Shufen Li; Peng Jin; Jian-Huan Chen; Cunyou Zhao is a Medicine article available to read on EtoBox.
What is Transition of allele-specific DNA hydroxymethylation at regulatory loci is associated with phenotypic variation in monozygotic twins discordant for psychiatric disorders about?
## Background Major psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BPD) are complex genetic mental illnesses. Their non-Mendelian features, such as those observed in monozygotic twins discordant for SCZ or BPD, are likely complicated by environmental modifiers of genetic effects. 5-Hydroxymethylcytosine (5hmC) is an important epigenetic mark in gene regulation, and whether it is linked to genetic variants that contribute to non-Mendelian features remains largely unexplored. ## Methods We combined the 5hmC-selective chemical labeling method (5hmC-seq) and whole-genome sequencing (WGS) analysis of peripheral blood DNA obtained from monozygotic (MZ) twins discordant for SCZ or BPD to identify allelic imbalances in hydroxymethylome maps, and examined association of allele-specific hydroxymethylation (AShM) transition with disease susceptibility based on Bayes factors (BF) derived from the Bayesian generalized additive linear mixed model. We then performed multi-omics integrative analysis to determine the molecular pathogenic basis of those AShM sites. We finally employed luciferase reporter, CRISPR/Cas9 technology, electrophoretic mobility shift assay (EMSA), c
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- Author
- Junping Ye; Zhanwang Huang; Qiyang Li; Zhongwei Li; Yuting Lan; Zhongju Wang; Chaoying Ni; Xiaohui Wu; Tingyun Jiang; Yujing Li; Qiong Yang; Junghwa Lim; Cun-Yan Ren; Meijun Jiang; Shufen Li; Peng Jin; Jian-Huan Chen; Cunyou Zhao
- Publisher
- Springer Science and Business Media LLC
- Published
- 2023
- Field
- Medicine (Health Sciences)