Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders
The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication synd...
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| Published in | Neurobiology of disease Vol. 201; p. 106669 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
15.10.2024
Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0969-9961 1095-953X 1095-953X |
| DOI | 10.1016/j.nbd.2024.106669 |
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| Abstract | The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication syndrome (Dup15q). In the last two decades, the development of in vitro and in vivo models of AS and Dup15q were fundamental to improve the understanding of UBE3A function in the brain. However, the pathogenic mechanisms of these diseases remain elusive and effective treatments are lacking. Recent evidence suggests that UBE3A functions are both spatially and temporally specific, varying across subcellular compartments, brain regions, and neuronal circuits. In the present review, we summarize current knowledge on the role of UBE3A in neuronal pathophysiology under this spatio-temporal perspective. Additionally, we propose key research questions that will be instrumental to better understand the pathogenic mechanisms underpinning AS and Dup15q disorders and provide the rationale to develop novel therapies.
•Genetic defects of the imprinted gene UBE3A cause neurodevelopmental disorders.•UBE3A critically regulate the function of distinct neuronal circuits and behaviors.•The molecular diversity of UBE3A is a key determinant of disease pathophysiology.•UBE3A operates during precise temporal windows to regulate neurodevelopment. |
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| AbstractList | The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication syndrome (Dup15q). In the last two decades, the development of in vitro and in vivo models of AS and Dup15q were fundamental to improve the understanding of UBE3A function in the brain. However, the pathogenic mechanisms of these diseases remain elusive and effective treatments are lacking. Recent evidence suggests that UBE3A functions are both spatially and temporally specific, varying across subcellular compartments, brain regions, and neuronal circuits. In the present review, we summarize current knowledge on the role of UBE3A in neuronal pathophysiology under this spatio-temporal perspective. Additionally, we propose key research questions that will be instrumental to better understand the pathogenic mechanisms underpinning AS and Dup15q disorders and provide the rationale to develop novel therapies. The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication syndrome (Dup15q). In the last two decades, the development of in vitro and in vivo models of AS and Dup15q were fundamental to improve the understanding of UBE3A function in the brain. However, the pathogenic mechanisms of these diseases remain elusive and effective treatments are lacking. Recent evidence suggests that UBE3A functions are both spatially and temporally specific, varying across subcellular compartments, brain regions, and neuronal circuits. In the present review, we summarize current knowledge on the role of UBE3A in neuronal pathophysiology under this spatio-temporal perspective. Additionally, we propose key research questions that will be instrumental to better understand the pathogenic mechanisms underpinning AS and Dup15q disorders and provide the rationale to develop novel therapies.The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication syndrome (Dup15q). In the last two decades, the development of in vitro and in vivo models of AS and Dup15q were fundamental to improve the understanding of UBE3A function in the brain. However, the pathogenic mechanisms of these diseases remain elusive and effective treatments are lacking. Recent evidence suggests that UBE3A functions are both spatially and temporally specific, varying across subcellular compartments, brain regions, and neuronal circuits. In the present review, we summarize current knowledge on the role of UBE3A in neuronal pathophysiology under this spatio-temporal perspective. Additionally, we propose key research questions that will be instrumental to better understand the pathogenic mechanisms underpinning AS and Dup15q disorders and provide the rationale to develop novel therapies. The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication syndrome (Dup15q). In the last two decades, the development of in vitro and in vivo models of AS and Dup15q were fundamental to improve the understanding of UBE3A function in the brain. However, the pathogenic mechanisms of these diseases remain elusive and effective treatments are lacking. Recent evidence suggests that UBE3A functions are both spatially and temporally specific, varying across subcellular compartments, brain regions, and neuronal circuits. In the present review, we summarize current knowledge on the role of UBE3A in neuronal pathophysiology under this spatio-temporal perspective. Additionally, we propose key research questions that will be instrumental to better understand the pathogenic mechanisms underpinning AS and Dup15q disorders and provide the rationale to develop novel therapies. •Genetic defects of the imprinted gene UBE3A cause neurodevelopmental disorders.•UBE3A critically regulate the function of distinct neuronal circuits and behaviors.•The molecular diversity of UBE3A is a key determinant of disease pathophysiology.•UBE3A operates during precise temporal windows to regulate neurodevelopment. |
| ArticleNumber | 106669 |
| Author | Baronchelli, Federica Biagioni, Martina Fossati, Matteo |
| Author_xml | – sequence: 1 givenname: Martina surname: Biagioni fullname: Biagioni, Martina organization: IRCCS Humanitas Research Hospital, via Manzoni 56, Rozzano 20089, MI, Italy – sequence: 2 givenname: Federica surname: Baronchelli fullname: Baronchelli, Federica organization: CNR - Institute of Neuroscience, Section of Milano, via Manzoni 56, Rozzano 20089, MI, Italy – sequence: 3 givenname: Matteo surname: Fossati fullname: Fossati, Matteo email: matteo.fossati@cnr.it organization: IRCCS Humanitas Research Hospital, via Manzoni 56, Rozzano 20089, MI, Italy |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/39293689$$D View this record in MEDLINE/PubMed |
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| Keywords | Neuronal circuits Neurodevelopmental disorders Synapses Protein ubiquitination Developmental trajectories of disease |
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| SubjectTerms | Angelman Syndrome - genetics Animals Brain - metabolism Chromosomes, Human, Pair 15 - genetics Developmental trajectories of disease Humans Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Neuronal circuits Neurons - metabolism Protein ubiquitination Synapses Ubiquitin-Protein Ligases - genetics Ubiquitin-Protein Ligases - metabolism |
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| Title | Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders |
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