A human-specific non-coding RNA for EFHC1, an epilepsy-associated gene, regulates neural stem cell proliferation for cortical development.
Overview
Abstract
Epilepsy is a prevalent brain disorder in humans but rarely occurs naturally in other species, highlighting the potential for human-specific mechanisms in its pathogenesis, and thus, current animal models fail to recapitulate human symptoms. Comparing RNA sequencing (RNA-seq) datasets from human and mouse neural stem cells (NSCs), we identified EFHC1, a juvenile myoclonic epilepsy gene, as exhibiting a human-biased expression. EFHC1 knockdown reduced human NSC proliferation, while its overexpression in mouse embryonic brains increased cortical NSC number. Mechanistically, EFHC1 prevented endoplasmic reticulum stress, thereby reducing inflammatory activation of p38 MAPK and promoting continuous proliferation of human NSCs. We also identified pancEFHC1, a bidirectional promoter-associated non-coding RNA (pancRNA), located at the human EFHC1 promoter. Knockdown of pancEFHC1 in human NSCs increased DNA methylation to reduce EFHC1 expression, with the resulting phenotype rescued by EFHC1 overexpression. We propose that the evolutionary acquisition of pancEFHC1 has introduced a complex regulatory mechanism for EFHC1 expression that allows distinguishing it in humans.
Reproduced under the paper's license (CC BY), from the paper cited above.
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Data
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Data and code availability
The raw sequencing data have been deposited in Gene Expression Omnibus under accession number GEO: GSE286261.
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Version 1, 27 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 9 authors, 7 keywords, 13 MeSH terms, 7 funders, 63 references, 17 RRIDs.
Cite
This paper
Nishida, S., An, B., Uchida, H., Zenno, S., Nojima, T., Makimura, A., Morishita, F., Honda, M., & Imamura, T. (2026). A human-specific non-coding RNA for EFHC1, an epilepsy-associated gene, regulates neural stem cell proliferation for cortical development. Stem cell reports, 21(9), 103049. https://
BibTeX
@article{nishida2026huma
author = {Nishida, Sota and An, Boyang and Uchida, Hayato and Zenno, Shota and Nojima, Takumi and Makimura, Arisa and Morishita, Fumihiro and Honda, Mizuki and Imamura, Takuya},
title = {{A human-specific non-coding RNA for EFHC1, an epilepsy-associated gene, regulates neural stem cell proliferation for cortical development}},
journal = {Stem cell reports},
year = {2026},
month = aug,
volume = {21},
number = {9},
pages = {103049},
publisher = {Elsevier},
issn = {2213-6711},
doi = {10.1016/
url = {https://
pmid = {42624099},
pmcid = {PMC13555433}
}
RIS
TY - JOUR
AU - Nishida, Sota
AU - An, Boyang
AU - Uchida, Hayato
AU - Zenno, Shota
AU - Nojima, Takumi
AU - Makimura, Arisa
AU - Morishita, Fumihiro
AU - Honda, Mizuki
AU - Imamura, Takuya
TI - A human-specific non-coding RNA for EFHC1, an epilepsy-associated gene, regulates neural stem cell proliferation for cortical development
T2 - Stem cell reports
J2 - Stem Cell Reports
PY - 2026
DA - 2026/
VL - 21
IS - 9
SP - 103049
SN - 2213-6711
PB - Elsevier
DO - 10.1016/
UR - https://
LA - en
ER -
CSL-JSON
{
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"container-title": "Stem cell reports",
"author": [
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"given": "Takumi"
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"family": "Morishita",
"given": "Fumihiro"
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"given": "Mizuki"
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"family": "Imamura",
"given": "Takuya"
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"container-title-short":
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"page": "103049",
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"PMID": "42624099",
"PMCID": "PMC13555433",
"ISSN": "2213-6711",
"publisher": "Elsevier",
"URL": "https://
"language": "en",
"issued": {
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