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Cited by 19Neurogenesis and neuroplasticity mechanismsGenetics and Neurodevelopmental DisordersGenomics and Chromatin Dynamics

Molecular analysis of NPAS3 functional domains and variants

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Luoma, Leiah M., Berry, Fred B.·2018·BMC Molecular Biology
DOI 10.1186/s12867-018-0117-4PMC PMC6276216
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Abstract

BACKGROUND: NPAS3 encodes a transcription factor which has been associated with multiple human psychiatric and neurodevelopmental disorders. In mice, deletion of Npas3 was found to cause alterations in neurodevelopment, as well as a marked reduction in neurogenesis in the adult mouse hippocampus. This neurogenic deficit, alongside the reduction in cortical interneuron number, likely contributes to the behavioral and cognitive alterations observed in Npas3 knockout mice. Although loss of Npas3 has been found to affect proliferation and apoptosis, the molecular function of NPAS3 is largely uncharacterized outside of predictions based on its high homology to bHLH-PAS transcription factors. Here we set out to characterize NPAS3 as a transcription factor, and to confirm whether NPAS3 acts as predicted for a Class 1 bHLH-PAS family member. RESULTS: Through these studies we have experimentally demonstrated that NPAS3 behaves as a true transcription factor, capable of gene regulation through direct association with DNA. NPAS3 and ARNT are confirmed to directly interact in human cells through both bHLH and PAS dimerization domains. The C-terminus of NPAS3 was found to contain a functional transactivation domain. Further, the NPAS3::ARNT heterodimer was shown to directly regulate the expression of VGF and TXNIP through binding of their proximal promoters. Finally, we assessed the effects of three human variants of NPAS3 on gene regulatory function and do not observe significant deficits. CONCLUSIONS: NPAS3 is a true transcription factor capable of regulating expression of target genes through their promoters by directly cooperating with ARNT. The tested human variants of NPAS3 require further characterization to identify their effects on NPAS3 expression and function in the individuals that carry them. These data enhance our understanding of the molecular function of NPAS3 and the mechanism by which it contributes to normal and abnormal neurodevelopment and neural function.

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  • Conditional hippocampal Npas3−/− mice show deficits in adult neurogenesis within the dentate gyrus due to decreased survival of neural progenitors.

    “Additionally, conditional hippocampal Npas3−/− mice showed deficits in adult neurogenesis within the dentate gyrus due to decreased survival of neural progenitors (Michaelson et al. 2017; Luoma and Berry 2018).”

    From The Human Accelerated Region HAR202 Controls <i>NPAS3</i> Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences (2024) · cites this paper as Luoma and Berry 2018

    The Background (page unavailable) reports an almost complete loss of adult neurogenesis in the dentate gyrus in Npas3 knockout mice and increased markers of apoptosis rather than reduced progenitor proliferation. It does not identify the mice as conditional hippocampal knockouts or directly establish decreased neural-progenitor survival as the cause of the neurogenesis deficit. (LLM, conf=0.85)

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Authors
Luoma, L. M., & Berry, F. B.
Affiliations
University of Alberta (CA)
Corresponding author
Berry, Fred B.
ORCID
Venue
BMC Molecular Biology
Publisher
Springer Science and Business Media LLC
Published
2018-12
Volume
19
Issue
1
Pages
14-14
ISSN
1471-2199 (ISSN-L)
DOI
10.1186/s12867-018-0117-4
PMC
PMC6276216
OpenAlex
W2902030465
Cited by
19
References
3
Citations by year
2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 8 · 2020: 2 · 2019: 2
FWCI
1.10
Type
journal article
Language
en
Open access
Licence
Locations
  • BMC Molecular Biology (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders
Canadian Institutes of Health Research (MOP114921)
Topics
  • Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords
NPAS3, transcription factors, ARNT, heterodimerization, transactivation domain, VGF, TXNIP, promoter binding, brain development, neurogenesis, cortical interneurons, mental illness, neurodevelopmental disorders, genetic variants
MeSH terms
Carrier Proteins, Cell Line, Gene Expression Regulation, Humans, Nerve Tissue Proteins, Promoter Regions, Genetic, Protein Binding, Transcription Factors, Genetic Variation, Genes, Reporter, Protein Transport, Basic Helix-Loop-Helix Transcription Factors, Basic Helix-Loop-Helix Proteins, Protein Interaction Domains and Motifs

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