GEO series

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders [RNA-Seq]

GSE286287 Mus musculus (mouse) RNA-seq (gene expression) 18 samples Submitted 2026/02/17 Platform GPL34290Platform GPL24247

At a glance

RNA-seq (gene expression) · mouse · 18 samples

What it is: RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism: Mus musculus (mouse)
Samples: 18 samples: 9 conditions, mostly in duplicateGroups are read from the sample names, not from the paper. Check the list below.
Data you can get: A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper: Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disordersMolecular cell · 2026

Summary (written by the submitters)

Heterozygous de novo missense mutations in genes encoding Polycomb-group (PcG) proteins can cause diverse neurodevelopmental disorders (NDDs), but the underlying mechanisms are not yet understood. Here, we identified novel mutations in the two E3-ligases of the Polycomb Repressive complex 1 (PRC1), RING1 and RNF2, in individuals with NDDs and uncover distinct mechanisms by which PRC1 activity can be compromised.

Read the full summary ↓

Building on this, and as a proof of concept, we generated embryonic stem cells (ESCs) and a novel mouse model carrying a heterozygous Rnf2 allele with a mutation that produces a deleterious Ring1bR70H variant. This variant causes a cell fate change in neuroprecursors (NPCs) towards the non-neuronal lineages glial and microglia. Allele-specific profiling revealed that Ring1bR70H integrates into canonical PRC1, disrupting the balance of PRC1 complexes by displacing variant PRC1 from chromatin, resulting in PcG target genes upregulation. In mutant NPCs, we uncover an aberrant retention of PcG and chromatin compaction at key NPC pioneer factors and Wnt signaling genes. Critically, a heterozygous Rnf2 mutation in mice is sufficient to disrupt neural connectivity and structural organization in key brain regions, including the medial prefrontal cortex and hippocampus. Our findings establish Rnf2 as essential for neurodevelopmental integrity and brain function, shedding light on how PRC1 dysfunction contributes to NDDs.

Published in

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders

Borges RL, González-Blanco G, Arigela H et al. · Molecular cell 2026 · PMID 41653922 · doi:10.1016/j.molcel.2026.01.023

This dataset

Open GSE286287 in finder → Find more mouse RNA-seq datasets →

Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE286287_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1208529 and SRA study SRP556311. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41653922) ↗

Study design

9 conditions, mostly in duplicate

mESC ,Clone R70H 112 , ×2 mESC ,Clone R70H 282 , ×2 mESC ,WT , ×2 mNPC ,Clone R70H 112 , ×2 mNPC ,Clone R70H 282 , ×2 mNPC ,WT , ×2 mNeuronDiff ,Clone R70H 112 , ×2 mNeuronDiff ,Clone R70H 282 , ×2 +1 more

Supports a between-group comparison across 18 samples.

How we read this: 9 replicated groups read from 18 sample titles; they account for 18 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

GSM8722833 mESC ,Clone R70H 112 ,Replicate 1 mESC ,Clone R70H 112 ,
GSM8722834 mESC ,Clone R70H 112 ,Replicate 2 mESC ,Clone R70H 112 ,
GSM8722835 mESC ,Clone R70H 282 ,Replicate 1 mESC ,Clone R70H 282 ,
GSM8722836 mESC ,Clone R70H 282 ,Replicate 2 mESC ,Clone R70H 282 ,
GSM8722837 mESC ,WT ,Replicate 1 mESC ,WT ,
GSM8722838 mESC ,WT ,Replicate 2 mESC ,WT ,
GSM8722839 mNPC ,Clone R70H 112 ,Replicate 1 mNPC ,Clone R70H 112 ,
GSM8722840 mNPC ,Clone R70H 112 ,Replicate 2 mNPC ,Clone R70H 112 ,
GSM8722841 mNPC ,Clone R70H 282 ,Replicate 1 mNPC ,Clone R70H 282 ,
GSM8722842 mNPC ,Clone R70H 282 ,Replicate 2 mNPC ,Clone R70H 282 ,
GSM8722843 mNPC ,WT ,Replicate 1 mNPC ,WT ,
GSM8722844 mNPC ,WT ,Replicate 2 mNPC ,WT ,
GSM8722845 mNeuronDiff ,Clone R70H 112 ,Replicate 1 mNeuronDiff ,Clone R70H…
GSM8722846 mNeuronDiff ,Clone R70H 112 ,Replicate 2 mNeuronDiff ,Clone R70H…
GSM8722847 mNeuronDiff ,Clone R70H 282 ,Replicate 1 mNeuronDiff ,Clone R70H…
GSM8722848 mNeuronDiff ,Clone R70H 282 ,Replicate 2 mNeuronDiff ,Clone R70H…
GSM8722849 mNeuronDiff ,WT ,Replicate 1 mNeuronDiff ,WT ,
GSM8722850 mNeuronDiff ,WT ,Replicate 2 mNeuronDiff ,WT ,

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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.