ArticleMammalian genome : official journal of the International Mammalian Genome Society2007
Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.medRxiv : the preprint server for health sciences · 2025Article
- The roles of TAF1 in neuroscience and beyond.Royal Society open science · 2024Review
- X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment.Acta neurologica Belgica · 2023Review
- TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Dissection ofBrain communications · 2021Article
- Neuronal-specific microexon splicing ofRNA biology · 2020Article
- SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.PloS one · 2020Article
- X-Linked Dystonia-Parkinsonism: recent advances.Current opinion in neurology · 2019Review
- Article
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inProceedings of the National Academy of Sciences of the United States of America · 2017Article
- X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.Neurobiology of disease · 2017Article
- Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.Cellular and molecular life sciences : CMLS · 2016Article
- Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.Disease models & mechanisms · 2016Article
- Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag).Stereotactic and functional neurosurgery · 2010Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed TAF1/DYT3, a complex transcript system that is composed of at least 43 exons. Thirty-eight exons code for TATA box binding protein associated factor I (TAF1). Five downstream exons (d1-d5) of yet unknown function can either form transcripts with TAF1 exons or be transcribed independently. Splice variants can include d (notably d3 and d4) plus at least 12 TAF1 exons (exons 26-37 but not exon 38). These splice variants are highly polymorphic and include alternative exons (e.g., exons 30b, 31b, 32', 34', 35'). The frequency of these splice variants differs greatly in human fetal brain. Data were obtained by both RT-PCR and construction of a plasmid cDNA library. Promoter assays performed in NT2/D1 and in U87 cells demonstrate that TAF1-independent transcription of exons d2-d4 is driven by a TATA box-less promoter that is regulated by transcription factor Ikaros. Antisense transcription of exon d4 is under the control of a LTR promoter. While the 38 exons encoding TAF1 have been highly conserved in eukaryotes, the downstream exons d1-d5 were added to the transcript system much later during evolution and first appear in primates. The study demonstrates the structural and functional evolution of a complex transcript system.
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