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Nonsense-mediated mRNA Decay02:27

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human

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Area of Science:

  • Developmental Biology
  • Epigenetics
  • Genetics

Background:

  • Polycomb Repressive Complex 1 (PRC1) is crucial for development, catalyzing H2AK119ub1 for transcriptional repression.
  • De novo missense variants in RNF2, PRC1's E3 ligase, cause Luo-Schoch-Yamamoto syndrome.
  • Understanding the impact of catalytically impaired RNF2 is vital for neurodevelopmental disorder research.

Purpose of the Study:

  • To investigate the developmental consequences of catalytically impaired RNF2 alleles.
  • To elucidate the role of RNF2-mediated H2AK119ub1 in maintaining lineage fidelity during human neural differentiation.

Main Methods:

  • Engineered human embryonic stem cell (hESC) lines with homozygous hypomorphic RNF2 missense alleles (RNF2MS/MS).
  • Directed neural differentiation of RNF2MS/MS hESCs.
  • Single-cell transcriptomic analysis to identify gene expression changes and lineage dynamics.

Main Results:

  • RNF2MS/MS cells showed asynchronous neural differentiation and ectopic mesenchymal lineage emergence.
  • Single-cell RNA sequencing revealed a fate bifurcation with derepression of TWIST1 and epithelial-to-mesenchymal transition (EMT) genes.
  • These changes correlated with focal loss of H2AK119ub1 and H3K27me3 epigenetic marks.

Conclusions:

  • RNF2-mediated H2AK119ub1 is essential for repressing context-inappropriate developmental programs during human neural differentiation.
  • RNF2 variants disrupt lineage fidelity, linking RNF2 mutations to neurodevelopmental pathology.
  • A shared chromatin-based mechanism connects RNF2 missense variants to both neurodevelopmental issues and oncogenic plasticity.