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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE171266 | GEO | 2021/06/03

REPOSITORIES: GEO

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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.

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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

Project description:SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

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Molecular signature of Schinzel-Giedion syndrome in human neural progenitors

Project description:Schinzel-Giedion syndrome (SGS) is a developmental syndrome, due to the accumulation of SETBP1 protein, which is fatal in early infancy. SGS has a multi-organ involvement with severe and persistent intellectual and physical problems. We produced a human SGS model that outlines disease-relevant phenotypes using patient-derived induced pluripotent stem cells and isogenic controls. Whole transcriptome profiling describes cancer-like alterations in SGS neural progenitors including deregulation of oncogenes and suppressors and enhanced proliferation. These findings demonstrated how SGS post-natal pathological traits mayhave developmental origin in the failure of controlling cell identity and homeostasis due to SETBP1 protein accumulation.

2021-06-03 | GSE150810 | GEO

Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1<sup>S858R</sup> Schinzel Giedion Syndrome mice.

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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

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Gene expression profile of antisense oligonucleotide-treated Neural Progenitors from controls and Schinzel-Giedion Syndrome cases

Project description:Schinzel-Giedion Syndrome (SGS) is a severe multisystemic disorder caused by germline heterozygous missense mutations in a mutational hotspot found in SETBP1. Hotspot mutations affect the degron region of SETBP1, leading to an increase in SETBP1 protein levels. SGS has a range of neurological symptoms, including severe intellectual disability, frequent seizures, hydrocephalus, distorted neuronal layering, and delayed myelination, leading to early death in children. To investigate the gene expression change induced by a gapmer antisense oligonucleotide designed for treatment of SGS, we performed transcriptome analysis of neural progenitor cells from SGS cases and controls treated with an ASO targetting the SETBP1 gene, Inotersen ASO, vehicle-treated cells and untreated cells.

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Molecular signature of Schinzel-Giedion syndrome in human neural progenitors

Project description:Molecular signature of Schinzel-Giedion syndrome in human neural progenitors

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Single cell profiling of the cerebral organoids derived from Schinzel-Giedion syndrome cells and isogenic controls

Project description:Schinzel-Giedion syndrome (SGS) is a developmental syndrome, due to SETBP1 gene mutations inducing the accumulation of the relative protein, which is fatal in early infancy. Here, we generated unpatterned cerebral organoids from both SGS iPSC line and isogenic control line (through CRISPR/Cas9 back correction). We showed that SEBP1 accumulation triggers the development of large and convoluted epithelial folds in SGS cerebral organoids. To thoroughly characterize the 3D organoids we used scRNAseq (10X platform) in which we evidences the presence of both neural progenitors and committed neural progenitors with aberrant gene signature in SGS organoids that possibly sustain the lateral increase of the neuroepithelium

2021-06-03 | GSE171263 | GEO

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