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Transcription regulation of SNCA by dystonia type 6 gene product THAP1

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

ORGANISM(S): Rattus norvegicus Homo sapiens

PROVIDER: GSE141278 | GEO | 2022/09/28

REPOSITORIES: GEO

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [RNA-Seq]

Project description:The predominantly function of THAP1 has been defined as a transcription factor, but how it regulates gene expression in human neurons is not well understood. Here, we found that THAP1 is able to regulate the expression of alpha-synuclein (SNCA), a key protein in Parkinson’s disease (PD).

2022-09-28 | GSE147633 | GEO

Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [Rat_ChIP-seq]

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [4C-Seq]

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [ChIP-seq]

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1

Project description:Transcription regulation of SNCA by dystonia type 6 gene product THAP1

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [ChIP-seq]

Project description:Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [ChIP-seq]

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [RNA-Seq]

Project description:Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [RNA-Seq]

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [Rat_ChIP-seq]

Project description:Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [Rat_ChIP-seq]

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The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-04-13 | GSE154729 | GEO

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

Project description:DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant. Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in THAP1 cause dystonia are unknown. Thap1 is a zinc-finger transcription factor, and most pathogenic THAP1 mutations are missense and are located in the DNA-binding domain. There are also nonsense mutations, which act as the equivalent of a null allele because they result in the generation of small mRNA species that are likely rapidly degraded via nonsense-mediated decay. The function of Thap1 in neurons is unknown, but there is a unique, neuronal 50-kDa Thap1 species, and Thap1 levels are auto-regulated on the mRNA level. Herein, we present the first characterization of two mouse models of DYT6, including a pathogenic knockin mutation, C54Y and a null mutation. Alterations in motor behaviors, transcription and brain structure are demonstrated. The projection neurons of the deep cerebellar nuclei are especially altered. Abnormalities vary according to genotype, sex, age and/or brain region, but importantly, overlap with those of other dystonia mouse models. These data highlight the similarities and differences in age- and cell-specific effects of a Thap1 mutation, indicating that the pathophysiology of THAP1 mutations should be assayed at multiple ages and neuronal types and support the notion of final common pathways in the pathophysiology of dystonia arising from disparate mutations.

| S-EPMC4757965 | biostudies-literature

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