OSCR

Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain.

Overview

Authors: Michael S. Breen1,2,3,4, Andy Yang1,2,3,4, Xuran Wang1,2,3,4, Miguel Rodriguez de los Santos1,2,3,4, Ran Tao5, Daniel R. Weinberger5,6,7,8,9, Joel E. Kleinman5,6, Kalina Mihova10, Gergana Stancheva10, Sylvia Savova11,12, Radka Kaneva10, Violeta Dimitrova11,12, Vladimir Vladimirov5,13,14, Thomas M. Hyde5,6,7, Joseph D. Buxbaum1,2,3,4
14 affiliations
  1. Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, NY USA
  2. MINDICH Child Health and Development Institute, Icahn School of Medicine at Mount Sinai,New York, NY USA
  3. Department of Psychiatry, Icahn School of Medicine at Mount Sinai,New York, NY USA
  4. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai,New York, NY USA
  5. The Lieber Institute for Brain Development,Baltimore, MD USA
  6. Department of Psychiatric and Behavioral Sciences, Johns Hopkins School of Medicine,Baltimore, MD USA
  7. Department of Neurology, Johns Hopkins School of Medicine,Baltimore, MD USA
  8. Department of Neuroscience, Johns Hopkins School of Medicine,Baltimore, MD USA
  9. Department of Genetic Medicine, Johns Hopkins University School of Medicine,Baltimore, MD USA
  10. Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia,Sofia, Bulgaria
  11. Department of Obstetrics and Gynecology, Medical University of Sofia,Sofia, Bulgaria
  12. Neonatology Clinic, University Hospital of Obstetrics and Gynecology “Maichin Dom”,Sofia, Bulgaria
  13. Department of Psychiatry, The University of Arizona,Tucson, AZ USA
  14. Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University,Richmond, VA USA
Institutions: Icahn School of Medicine at Mount Sinai (United States); Lieber Institute for Brain Development (United States); Johns Hopkins University (United States); Medical University of Sofia (Bulgaria); Maichin Dom (Bulgaria); University of Arizona (United States); Virginia Commonwealth University (United States)
Journal: Nature communications, volume 17, issue 1, article 2797
Dates: received 15 July 2025; accepted 13 February 2026; published online 31 March 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1038/s41467-026-70217-5 · PMID 41917044 · PMCID PMC13039865 · OpenAlex W7144049828
Open access: gold, a free copy (OpenAlex)
Categories: genetics / omics (modality), human (organism), other condition (population)
Methods: Statistics, Smoothing, state filtering, decompositions, Preprocessing, Connectivity, fMRI & imaging, Spectral & time-frequency
Keywords: Developmental disorders, Genetics of the nervous system, Gene expression, Epigenetics in the nervous system
MeSH: Adenosine Deaminase*, Brain*, Down Syndrome*, RNA-Binding Proteins*, 3' Untranslated Regions, Chromosomes, Human, Pair 21, Female, Fetus, Gene Dosage, Gene Expression Regulation, Developmental, GluK2 Kainate Receptor, Hippocampus, Humans, Receptors, AMPA, Receptors, GABA-A, RNA Editing, Transcriptome (* major topic)
Topic: RNA regulation and disease (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: National Institute on Aging (5R01AG087324-02)
Citations: not cited yet (Europe PMC); 69 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

No file of the authors' code could be read here: it is described below, and read at its source.

BreenMS/Trisomy

License: none: the authors keep all their rights
State: the link is dead, verified on 30 September 2026
Evidence: found in the paper
Software Heritage: not archived
Found in: “Code availability”
Not found: README, license file, CITATION.cff, environment file, tests, continuous integration, documentation
Availability: 1 check, the latest on 30 September 2026: the link is dead
  • 30 September 2026: the link is dead

Code availability statement

The paper has a code availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

Read it in the paper: doi.org/10.1038/s41467-026-70217-5.

Tracing map

Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.

What the map holds:

  • 1 repository of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
  • 0 scripts, each with its path and the digest of its content;
  • no match between paragraphs and code yet;
  • neither the text of the paper nor the code itself.

Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

Datasets cited

Code and data availability statement

The paper has a code and data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

Read it in the paper: doi.org/10.1038/s41467-026-70217-5.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 15 authors, 4 keywords, 17 MeSH terms, 1 funder, 67 references.

Cite

This paper

Breen, M. S., Yang, A., Wang, X., Rodriguez de los Santos, M., Tao, R., Weinberger, D. R., Kleinman, J. E., Mihova, K., Stancheva, G., Savova, S., Kaneva, R., Dimitrova, V., Vladimirov, V., Hyde, T. M., & Buxbaum, J. D. (2026). Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain. Nature communications, 17(1), 2797. https://doi.org/10.1038/s41467-026-70217-5

BibTeX

@article{breen2026trisomy,
author = {Breen, Michael S. and Yang, Andy and Wang, Xuran and Rodriguez de los Santos, Miguel and Tao, Ran and Weinberger, Daniel R. and Kleinman, Joel E. and Mihova, Kalina and Stancheva, Gergana and Savova, Sylvia and Kaneva, Radka and Dimitrova, Violeta and Vladimirov, Vladimir and Hyde, Thomas M. and Buxbaum, Joseph D.},
title = {{Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain}},
journal = {Nature communications},
year = {2026},
month = mar,
volume = {17},
number = {1},
pages = {2797},
publisher = {Nature Publishing Group},
issn = {2041-1723},
doi = {10.1038/s41467-026-70217-5},
url = {https://doi.org/10.1038/s41467-026-70217-5},
pmid = {41917044},
pmcid = {PMC13039865}
}

RIS

TY - JOUR
AU - Breen, Michael S.
AU - Yang, Andy
AU - Wang, Xuran
AU - Rodriguez de los Santos, Miguel
AU - Tao, Ran
AU - Weinberger, Daniel R.
AU - Kleinman, Joel E.
AU - Mihova, Kalina
AU - Stancheva, Gergana
AU - Savova, Sylvia
AU - Kaneva, Radka
AU - Dimitrova, Violeta
AU - Vladimirov, Vladimir
AU - Hyde, Thomas M.
AU - Buxbaum, Joseph D.
TI - Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain
T2 - Nature communications
J2 - Nat Commun
PY - 2026
DA - 2026/03/31
VL - 17
IS - 1
SP - 2797
SN - 2041-1723
PB - Nature Publishing Group
DO - 10.1038/s41467-026-70217-5
UR - https://doi.org/10.1038/s41467-026-70217-5
LA - en
ER -

CSL-JSON

{
"id": "10.1038/s41467-026-70217-5",
"type": "article-journal",
"title": "Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain",
"container-title": "Nature communications",
"author": [
{
"family": "Breen",
"given": "Michael S."
},
{
"family": "Yang",
"given": "Andy"
},
{
"family": "Wang",
"given": "Xuran"
},
{
"family": "Rodriguez de los Santos",
"given": "Miguel"
},
{
"family": "Tao",
"given": "Ran"
},
{
"family": "Weinberger",
"given": "Daniel R."
},
{
"family": "Kleinman",
"given": "Joel E."
},
{
"family": "Mihova",
"given": "Kalina"
},
{
"family": "Stancheva",
"given": "Gergana"
},
{
"family": "Savova",
"given": "Sylvia"
},
{
"family": "Kaneva",
"given": "Radka"
},
{
"family": "Dimitrova",
"given": "Violeta"
},
{
"family": "Vladimirov",
"given": "Vladimir"
},
{
"family": "Hyde",
"given": "Thomas M."
},
{
"family": "Buxbaum",
"given": "Joseph D."
}
],
"container-title-short": "Nat Commun",
"volume": "17",
"issue": "1",
"page": "2797",
"DOI": "10.1038/s41467-026-70217-5",
"PMID": "41917044",
"PMCID": "PMC13039865",
"ISSN": "2041-1723",
"publisher": "Nature Publishing Group",
"URL": "https://doi.org/10.1038/s41467-026-70217-5",
"language": "en",
"issued": {
"date-parts": [
[
2026,
3,
31
]
]
}
}

The tracing map gets a citation of its own once an author has validated it and it has a DOI.

Similar papers

The papers with a page that share the most with this one: the tools found in their code, their categories, datasets, cited references and authors, the rarest counting most.

[1] doi:10.1038/s41467-024-49268-z [code]
Divergent landscapes of A-to-I editing in postmortem and living human brain.
Journal: Nature communications
In common: 18 references, 2 authors
[2] doi:10.1016/j.celrep.2022.111585
Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.
Journal: Cell reports
In common: 16 references, 2 authors
[3] doi:10.1038/s41467-025-67154-0 [code]
SETD1A regulates psychiatric gene networks involved in genomic stability and synaptic function in rare and sporadic schizophrenia.
Journal: Nature communications
In common: 3 references, 5 authors
[4] doi:10.1038/s41588-026-02646-3 [code]
Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.
Journal: Nature genetics
In common: genetics / omics, 1 reference, 4 authors
[5] doi:10.1038/s41467-024-47456-5 [code]
Dopamine signaling enriched striatal gene set predicts striatal dopamine synthesis and physiological activity in vivo.
Journal: Nature communications
In common: genetics / omics, 4 references, 3 authors
[6] doi:10.1038/s41467-025-59115-4 [code]
Large-scale transcriptomic analyses of major depressive disorder reveal convergent dysregulation of synaptic pathways in excitatory neurons.
Journal: Nature communications
In common: genetics / omics, 3 references, 3 authors
[7] doi:10.1093/nar/gkaf534
Landscape of A-I RNA editing in mouse, pig, macaque, and human brains.
Journal: Nucleic acids research
In common: genetics / omics, 10 references
[8] doi:10.1038/s41467-026-75470-2 [code]
Analysis of gene co-expression connectivity dynamics implicates aberrant neuron-oligodendroglia interactions in schizophrenia.
Journal: Nature communications
In common: genetics / omics, 2 references, 3 authors
[9] doi:10.1126/sciadv.ade2812 [code]
Consensus molecular environment of schizophrenia risk genes in coexpression networks shifting across age and brain regions.
Journal: Science advances
In common: 2 references, 3 authors
[10] doi:10.1186/s12864-023-09778-4 [code]
Changes in ADAR RNA editing patterns in CMV and ZIKV congenital infections.
Journal: BMC genomics
In common: genetics / omics, other condition, 9 references

Contribute

The authors of this paper can claim it, correct its record and validate its tracing map, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to OSCR's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors, correct its record or validate its tracing map: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Add the badge to the code's README

OSCR: the badge of this paper

If you are an author or a maintainer of this paper's code, you can add this badge. It says what OSCR knows of the paper (its code, its validated tracing map) and links the code to this page. Paste one of these snippets under the README's title. Keep the two marks around it, so that the badge can be replaced in place and is never added twice. OSCR changes nothing in your repository.

Markdown
<!-- oscr-badge:start -->
[![OSCR](https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5.svg)](https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5)
<!-- oscr-badge:end -->
reStructuredText
.. oscr-badge:start

.. image:: https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5.svg
   :target: https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5
   :alt: OSCR

.. oscr-badge:end
HTML
<!-- oscr-badge:start -->
<a href="https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5"><img src="https://openscicode.org/badge/doi/10.1038/s41467-026-70217-5.svg" alt="OSCR"></a>
<!-- oscr-badge:end -->

On GitHub, open the README, choose Edit (the pencil), paste the snippet under the title, then "Commit changes".

If you choose to, you can have the badge kept up to date for you, with oscr badge --write from the command line or with the GitHub Action in your repository's workflows. Every other form and option (a card, AsciiDoc, LaTeX, shields.io) is on the badge page.

Request its removal

To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).

Discussion, reproductions, activity

Discussion: code errors and mismatches between the code and the paper about this paper and its code, from readers and its authors, beside the paper and its tracing map.

Report a mismatch between the code and the paper · Report a code error (signed in)

Reproductions: reports from readers who ran the authors' code and did not get the paper's result, what they ran, with which environment, commit and data.

Report a reproduction failure (signed in)

Versions of its code: the releases of its code tied to a version of this paper (the preprint, the accepted manuscript, the version of record…), each with the tracing map versioned with it.

Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.