Evidence map›Paper›PMID 40907475›Full record

ArticleNeuron2025

Cell-type-specific enrichment of somatic aneuploidy in the mammalian brain.

Eran A Mukamel, Hanqing Liu, M Margarita Behrens, Joseph R Ecker

Abstract read
In one paragraph

Article in Neuron, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Origins and timing of somatic variants in the brain.Current opinion in genetics & development · 2026
    Review
  2. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Eran A MukamelDepartment of Cognitive Science, University of California, San Diego, La Jolla, CA 92037, USA. Electronic address: emukamel@ucsd.edu.
Hanqing LiuGenomic Analysis Laboratory, Salk Institute, La Jolla, CA 92037, USA.
M Margarita BehrensComputational Neurobiology Laboratory, Salk Institute, La Jolla, CA 92037, USA.
Joseph R EckerGenomic Analysis Laboratory, Salk Institute, La Jolla, CA 92037, USA; Howard Hughes Medical Institute, Salk Institute, La Jolla, CA 92037, USA.

Funding

Molecular SignaturesU19MH114831 · NIMH · SALK INSTITUTE FOR BIOLOGICAL STUDIES · PI CALLAWAY, EDWARD M, ECKER, JOSEPH R · 2017 to 2021
$24.6M
NIMH NIH HHS U19 MH114831
6 · The paper itself

Abstract

Somatic mutations alter the genomes of a subset of an individual's brain cells, impacting gene regulation and contributing to disease processes. Mosaic single-nucleotide variants have been characterized with single-cell resolution in the brain, but we have limited information about large-scale structural variation such as whole-chromosome duplication or loss. We used a dataset of over 415,000 single-cell DNA methylation and chromatin conformation profiles from the adult mouse brain to comprehensively identify and characterize aneuploid cells. Somatic trisomy events were strongly enriched on chromosome 16, which is syntenic with human chromosome 21. We also observed a specific enrichment of chromosome gain and loss events in specific cell types, including Pons neurons and oligodendrocyte precursor cells. Chromosome 16 trisomy occurred in multiple cell types and across brain regions, suggesting that nondisjunction is a recurrent feature of somatic structural variation in the brain.

Indexed as

AneuploidyBrainAnimalsChromatinDNA MethylationHumansMiceNeuronsSingle-Cell AnalysisTrisomyChromatinaneuploidybrainDNA methylationDown syndromemosaicismmouseneuronsingle cellsomatic mutationtrisomy

Identifiers

PMID40907475
PMCPMC12416756

What Socratic holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.