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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
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Related Experiment Video

Updated: Jun 13, 2025

In Vitro Selection of Engineered Transcriptional Repressors for Targeted Epigenetic Silencing
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Setd1a Loss-of-function Disrupts Epigenetic Regulation of Ribosomal Genes via Altered DNA Methylation.

Nicholas E Clifton1, Stefania Policicchio1, Emma M Walker1

  • 1Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom.

Schizophrenia Bulletin
|June 11, 2025
PubMed
Summary

SETD1A haploinsufficiency causes widespread DNA hypomethylation in ribosomal genes, impacting neurodevelopment and schizophrenia risk. This epigenetic disruption affects gene expression and synaptic plasticity.

Keywords:
DNASETD1Agenesmethylationmitochondriarare variantribosomesschizophrenia

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Area of Science:

  • Epigenetics
  • Neuroscience
  • Genetics

Background:

  • SETD1A, a histone methyltransferase, is linked to schizophrenia via loss-of-function mutations.
  • SETD1A's role in broader epigenetic dysregulation beyond H3K4 methylation is unclear.
  • SETD1A haploinsufficiency may contribute to neurodevelopmental disruptions in schizophrenia.

Purpose of the Study:

  • To investigate if SETD1A haploinsufficiency alters DNA methylation in the developing brain.
  • To explore the functional consequences of SETD1A-associated epigenetic changes in schizophrenia risk.

Main Methods:

  • DNA methylation profiling in Setd1a+/- mouse frontal cortex across development.
  • Identification and functional annotation of differentially methylated regions.
  • Integration with transcriptomic, proteomic, and mitochondrial activity data.

Main Results:

  • Widespread hypomethylation of ribosomal and RNA processing genes in Setd1a+/- mice.
  • Differential methylation enriched at SETD1A targets and small nucleolar RNAs.
  • Hypomethylated genes associated with schizophrenia risk, despite no change in mitochondrial complex I activity.

Conclusions:

  • SETD1A haploinsufficiency disrupts epigenetic regulation of ribosomal pathways.
  • Provides a mechanism linking SETD1A genetic variation to schizophrenia pathophysiology.
  • Highlights SETD1A's role in developmental and synaptic plasticity.