SHANK family on stem cell fate and development

Liu, Xu; Yuan, Ming; Lau, Benson Wui-Man; Li, Yue

doi:10.1038/s41419-022-05325-3

Cited by 5 publications

(4 citation statements)

References 86 publications

(120 reference statements)

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“…SHANK3 interacts with a variety of synaptic proteins, including scaffold molecules, glutamatergic receptors, signaling proteins, and cytoskeletal proteins. [ 24 ] The candidate EP region in the SHANK3 promoter is 1249 bp long (Figure 2a3 ). The EPs in each sample over the cutoff value (peak score > 2.0) are shown in Figure 2b .…”

Section: Resultsmentioning

confidence: 99%

YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia

Zhou

Liang

et al. 2023

Advanced Science

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Schizophrenia (SCZ) is a severe psychiatric and neurodevelopmental disorder. The pathological process of SCZ starts early during development, way before the first onset of psychotic symptoms. DNA methylation plays an important role in regulating gene expression and dysregulated DNA methylation is involved in the pathogenesis of various diseases. The methylated DNA immunoprecipitation‐chip (MeDIP‐chip) is performed to investigate genome‐wide DNA methylation dysregulation in peripheral blood mononuclear cells (PBMCs) of patients with first‐episode SCZ (FES). Results show that the SHANK3 promoter is hypermethylated, and this hypermethylation (HyperM) is negatively correlated with the cortical surface area in the left inferior temporal cortex and positively correlated with the negative symptom subscores in FES. The transcription factor YBX1 is further found to bind to the HyperM region of SHANK3 promoter in induced pluripotent stem cells (iPSCs)‐derived cortical interneurons (cINs) but not glutamatergic neurons. Furthermore, a direct and positive regulatory effect of YBX1 on the expression of SHANK3 is confirmed in cINs using shRNAs. In summary, the dysregulated SHANK3 expression in cINs suggests the potential role of DNA methylation in the neuropathological mechanism underlying SCZ. The results also suggest that HyperM of SHANK3 in PBMCs can serve as a potential peripheral biomarker of SCZ.

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Section: Resultsmentioning

confidence: 99%

YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia

Zhou

Liang

et al. 2023

Advanced Science

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“…As such, they may provide novel insights in the pathogenetic mechanisms of DCD. CNTN4 and SHANK3 belong to the contactin subgroup of the immunoglobulin superfamily and the SHANK family, containing multiple ankyrin repeats, respectively [67][68][69]. These genes encode neuronal cell adhesion molecules and scaffolding proteins that promote the modulation of neuronal activity, including glutamatergic synaptic excitability, nodal and paranodal organization, and various neurodevelopmental and cellular processes, such as neuron projection development, axono-and synaptogenesis, neurite outgrowth, synaptic growth and maintenance, and protein-protein interaction [67,[70][71][72][73].…”

Section: Discussionmentioning

confidence: 99%

Pathogenetic Insights in Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

Garofalo,

Vansenne,

Sival

et al. 2023

Preprint

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Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD remains unclear. Recent studies suggested a genetic substrate in some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms is still lacking. In this study, we first identified genes described in literature in patients with a diagnosis of DCD according to the official diagnostic criteria. Second, we exposed the underlying pathogenetic mechanisms of DCD, by investigating tissue- and temporal gene expression patterns and brain-specific biological mech-anisms. Third, we explored putative shared pathogenetic mechanisms between DCD and frequent movement disorders with a known genetic component, including ataxia, chorea, dystonia, and myoclonus. We identified 12 genes associated with DCD in literature, which are ubiquitously expressed in the central nervous system throughout brain development. These genes are involved in cellular processes, neural signaling and nervous system development. There was a remarkable overlap (62%) in pathogenetic mechanisms between DCD-associated genes and genes linked with movement disorders. Our findings suggest that some patients might have a genetic etiology of DCD, which could be considered part of a pathogenetic movement disorder spectrum.

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“…As such, they may provide novel insights into the pathogenetic mechanisms of DCD. CNTN4 and SHANK3 belong to the contactin subgroup of the immunoglobulin superfamily and the SHANK family, containing multiple ankyrin repeats [80][81][82]. These genes encode neuronal cell adhesion molecules and scaffolding proteins that promote the modulation of neuronal activity, including glutamatergic synaptic excitability, nodal and paranodal organization, and various neurodevelopmental and cellular processes, such as neuron projection development, axono-and synaptogenesis, neurite outgrowth, synaptic growth and maintenance, and protein-protein interaction [56,80,[83][84][85].…”

Section: Analogous Expression Patterns Of Dcd-and Movement Disorder G...mentioning

confidence: 99%

Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

Garofalo,

Vansenne,

Sival

et al. 2023

Brain Sciences

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Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has been unclear. Recent studies suggested a genetic substrate in some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms is still lacking. In this study, we first identified genes described in the literature in patients with a diagnosis of DCD according to the official diagnostic criteria. Second, we exposed the underlying pathogenetic mechanisms of DCD, by investigating tissue- and temporal gene expression patterns and brain-specific biological mechanisms. Third, we explored putative shared pathogenetic mechanisms between DCD and frequent movement disorders with a known genetic component, including ataxia, chorea, dystonia, and myoclonus. We identified 12 genes associated with DCD in the literature, which are ubiquitously expressed in the central nervous system throughout brain development. These genes are involved in cellular processes, neural signaling, and nervous system development. There was a remarkable overlap (62%) in pathogenetic mechanisms between DCD-associated genes and genes linked with movement disorders. Our findings suggest that some patients might have a genetic etiology of DCD, which could be considered part of a pathogenetic movement disorder spectrum.

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SHANK family on stem cell fate and development

Cited by 5 publications

References 86 publications

YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia

YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia

Pathogenetic Insights in Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

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