DYT3Called transcriptionTFIIDMutationsSubunitVariantsATP1A3ProteinTarget genesNeuronsExpressionMutationTOR1AChromosomeBromodomainsTranscription factorRegulationInteractionsDrosophilaTranscriptionalMRNAAnnotationProteinsAbnormalitiesSequencingSyndromeVariantTHAP1ProgressionGeneticPathwaySequenceBindsPolypeptideIncreases
DYT34
- The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. (medlineplus.gov)
- Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. (medlineplus.gov)
- It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism. (medlineplus.gov)
- Combined dystonias, accompanied by parkinsonism with known genetic loci include TAF1/DYT3, GCH1/DYT5a, TH/DYT5b, and ATP1A3/DYT12. (medscape.com)
Called transcription1
- The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). (medlineplus.gov)
TFIID6
- Transcription initiation factor TFIID subunit 1, also known as transcription initiation factor TFIID 250 kDa subunit (TAFII-250) or TBP-associated factor 250 kDa (p250), is a protein that in humans is encoded by the TAF1 gene. (wikipedia.org)
- This gene encodes the largest subunit of TFIID. (wikipedia.org)
- TAF1, the largest subunit of the transcription initiation factor TFIID complex, phosphorylates TP53 (p53) at threonine residue T55. (reactome.org)
- The TATA-box binding protein associated factor 1 (TAF1) is part of the TFIID complex that plays a key role during the initiation of transcription. (nyu.edu)
- TAF1 and TAF1L bromodomains are found in transcription factor TFIID and have an N-terminal extension that interacts with other complex subunits. (enamine.net)
- To investigate the effects of changing the composition of TFIID in a simple system we depleted TAF1 from Drosophila cells and determined the consequences on metal induced transcription at an inducible gene, Metallothionein B (MtnB). (refine.bio)
Mutations9
- Variants (also known as mutations) in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. (medlineplus.gov)
- Two other mutations were reported in TAF1 in two families with intellectual disability, although further clinical details were not reported. (wikipedia.org)
- Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. (nih.gov)
- A genetic interaction is inferred when mutations or deletions in separate genes, each of which alone causes a minimal phenotype, result in lethality when combined in the same cell under a given condition. (thebiogrid.org)
- The concept of synthetic lethality has gained popularity as a rational guide for predicting chemotherapeutic targets based on negative genetic interactions between tumor-specific somatic mutations and a second-site target gene. (thebiogrid.org)
- While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the 'modern history' of dystonia genetics dates back to 1994 when mutations in the GTP cyclohydrolase I gene were discovered to cause dopa-responsive dystonia. (uni-luebeck.de)
- Mutations in the lysine-specific histone methyltransferase 2B ( KMT2B ) gene were recently recognized as a cause of early-onset generalized dystonia, failure to thrive, microcephaly, intellectual disability, and facial dysmorphism [ 1 - 3 ]. (e-jmd.org)
- Pediatric cancer retinoblastoma and the formation of other human tumors can be attributed to mutations in the retinoblastoma tumor suppressor gene(Rb). (affbiotech.com)
- Comprehensive genomic tumor profiling helps to detect clinically relevant mutations in cancer-associated genes of solid tumors and provides valuable information for selecting the most efficient treatment for each patient. (cegat.com)
Subunit1
- In this study we show that a SWI/SNF chromatin remodeler subunit, BAF60, represses seedling growth by modulating DNA accessibility of hypocotyl cell size regulatory genes. (biomedcentral.com)
Variants7
- Alternative splicing of this gene results in multiple transcript variants. (nih.gov)
- Variants of TAF1 are associated with neurodevelopmental disorders. (nyu.edu)
- TAF1 intellectual disability (ID) syndrome is caused by pathogenic variants in the X-linked gene TATA-box binding protein associated factor 1 (TAF1), which is involved in RNA polymerase II transcription. (sbni2023.com.br)
- All variants reported to date are missense variants since TAF1 is known as a very constrained human gene because of its essential role in normal cellular functioning. (sbni2023.com.br)
- It is suggested that the complete loss of TAF1 in hemi or homozygous loss-of-function variants may cause embryonic lethality. (sbni2023.com.br)
- Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. (sbni2023.com.br)
- Congenital Heart Defects Due to TAF1 Missense Variants. (sbni2023.com.br)
ATP1A31
- Genetic Heterogeneity of Alternating Hemiplegia of ChildhoodSee also AHC2 ( OMIM ), caused by mutation in the ATP1A3 gene ( OMIM ). (mendelian.co)
Protein9
- This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. (medlineplus.gov)
- The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. (nih.gov)
- The early viral gene E2 encodes a protein involved in several key processes in HPV biology, such as replication, genome segregation, and viral gene transcription. (elis.sk)
- In HPV16 E2-positive cells, we observed a statistically significant increase in mRNA and protein levels of TAF1 and p27, a basal transcription factor and one of its target genes, respectively. (elis.sk)
- To our knowledge, this is the first study showing that the viral protein HPV16 E2 upregulates TAF1 expression. (elis.sk)
- SAK3 also restored the Brain-derived neurotrophic factor/protein kinase B/Glycogen Synthase Kinase 3 Beta (BDNF/AKT/GSK3β) signaling axis in TAF1 edited animals. (nyu.edu)
- The goal of this study was to examine the nature and expression pattern of the protein product(s) of the Thap1 transcription factor ( DYT6 gene) in mouse neurons, and to study the regional and developmental distribution, and subcellular localization of Thap1 protein. (biomedcentral.com)
- HD binding specificity increases by protein-protein interactions with a diversity of cofactors that outline the Hox interactome and determine the transcriptional landscape of the selected target genes. (biomedcentral.com)
- This plethora of Hox protein-protein interactions clearly points to a Hox-driven transcription process in which every Hox homeoprotein could selectively recruit GTFs to achieve specificity and activate or repress target genes during Drosophila development, although the precise molecular mechanisms remain elusive [ 25 ]. (biomedcentral.com)
Target genes2
- Hox proteins finely coordinate antero-posterior axis during embryonic development and through their action specific target genes are expressed at the right time and space to determine the embryo body plan. (biomedcentral.com)
- Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. (abcam.cn)
Neurons4
- However, they suspect that the changes disrupt the regulation of critical genes in neurons. (medlineplus.gov)
- SAK3 treatment prevented the loss of cortical neurons and GFAP-positive astrocytes observed after TAF1 gene editing. (nyu.edu)
- This abnormality markedly reduced the expression of dopamine D2 receptor gene (DRD2) in neurons. (elsevierpure.com)
- XDP has certain similarities to Huntington disease not only in pathological and clinical findings, but also the molecular mechanism, which disturbs expression of genes essential for striatal neurons, such as DRD2. (elsevierpure.com)
Expression9
- E2's presence also affects the expression of a variety of cellular genes involved in a wide range of biological processes, including cell cycle regulation and apoptosis, which are mediated by E2's interaction with cellular proteins. (elis.sk)
- E2 expression was measured by RT-qPCR and its biological activity was evaluated using a reporter gene. (elis.sk)
- Τhis Hematology/Fusion/Expression Profile provides clinically relevant information on Fusion/translocations and expression of various genes that are relevant in hematologic neoplasms. (genomictestingcooperative.com)
- Previously, we found that CRISPR/Cas9 based editing of the TAF1 gene disrupts the morphology of the cerebral cortex and blunts the expression as well as the function of the CaV3.1 (T-type) voltage gated calcium channel. (nyu.edu)
- Bromodomains are essential in regulating gene expression and chromatin structure, as acetylation of histones is associated with open chromatin and active gene transcription. (enamine.net)
- Therapeutic intervention may become possible through pharmacological measures that affect gene expression. (elsevierpure.com)
- These novel interactions open the possibility to analyze promoter function and gene expression to measure transcription factor binding dynamics at target sites throughout the genome. (biomedcentral.com)
- Alternate forms of the PolII transcription initiation machinery have been proposed to play a role in selective activation of cell-type-specific gene expression programs during cellular differentiation. (silverchair.com)
- Infection of bovine leukocytes by the apicomplexan parasite Theileria annulata results in alteration of host cell gene expression and stimulation of host cell proliferation. (lookformedical.com)
Mutation1
- Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation. (sbni2023.com.br)
TOR1A1
- DYT1 are caused by a 3-base pair in-frame deletion within the coding region of the TOR1A (torsinA) gene located on chromosome 9q34. (medscape.com)
Chromosome2
- In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
- Leu1439Val) was described in the TAF1 gene, located in the X chromosome. (sbni2023.com.br)
Bromodomains1
- TAF1 contains two bromodomains, which each can bind one of two acetyllysine residues at position 5 and 12 in the H4 tail, to stabilize the TBP-TATA box complex. (wikipedia.org)
Transcription factor1
- We also identified the causative gene as one of the general transcription factor genes, TAF1. (elsevierpure.com)
Regulation2
- Sex hormones and genes on the sex chromosomes are not only key factors in the regulation of sexual differentiation and reproduction but they are also deeply involved in brain homeostasis. (mdpi.com)
- A considerable amount of research has reported that fruit quality is affected by metabolic shifts which are under the coordinated regulation of both structural genes and transcriptional regulators. (biomedcentral.com)
Interactions3
- We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes that participate in viral-host interactions. (mdpi.com)
- Only HDAC2-interacting genes and only the most-mentioned/most-curated interactions are shown in the graph. (ucsc.edu)
- Please see the Gene Interactions Track Manual . (ucsc.edu)
Drosophila1
- Overall design: Nascent RNA was sequenced from replicate samples of Drosophila S2 cells treated with double-stranded RNA directed against E. coli LacI (Control) or against Drosophlia TAF1 (experimental). (refine.bio)
Transcriptional2
- 2017 ). Recently, the high quality tomato genome and large scale transcriptomic datasets have significantly accelerated the illumination of the structural genes and transcriptional regulators underlying the formation of high quality fruit (The Tomato Genome Sequencing Consortium 2012 ). (biomedcentral.com)
- Here, we focus on the recently obtained knowledge considering structural genes as well as transcriptional and post-translational regulators involved in the metabolic pathways underlying both appearance and internal quality such as those involved in chlorophyll, carotenoid, cell wall, central and secondary metabolism (Table 1 , Figure 1 ). (biomedcentral.com)
MRNA1
- We observe a marked increase in the levels of both the mature message and pre-mRNA in TAF1 depleted cells. (refine.bio)
Annotation1
- Search results: The pahtway p3258 has 419 genes in the original annotation. (uth.edu)
Proteins1
- Characterisation of a cluster of genes encoding Theileria annulata AT hook DNA-binding proteins and evidence for localisation to the host cell nucleus. (lookformedical.com)
Abnormalities2
- Oral administration of SAK3 (0.25 mg/kg, p.o.) significantly rescued locomotion abnormalities associated with TAF1 gene editing. (nyu.edu)
- Throughout this data, we aim to raise awareness to this genotype-phenotype and recommend that TAF1 ID should be considered in male patients presenting with global developmental delay or ID, corpus callosum abnormalities, dysmorphic typical features and congenital heart defects. (sbni2023.com.br)
Sequencing5
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes" (PDF). (wikipedia.org)
- Due to the advent of next-generation sequencing, the field of dystonia genetics has been evolving very rapidly over the past two years, resulting in the reporting of 'DYT1-25' and, for the first time, in the identification of genes associated with adult-onset focal/segmental dystonia. (uni-luebeck.de)
- In recent years, with the development of the next generation sequencing, molecular and genetic analysis methods, lots of genes which are involved in the chlorophyll, carotenoid, cell wall, central and secondary metabolism have been identified and confirmed to regulate pigment contents, fruit softening and other aspects of fruit flavor quality. (biomedcentral.com)
- Furthermore, a weighted gene correlation network analysis of representative genes of fruit quality has been carried out and the potential of the combined application of the gene correlation network analysis, fine-mapping strategies and next generation sequencing to identify novel candidate genes determinants of fruit quality is discussed. (biomedcentral.com)
- 2018 ). We additionally discuss the combined application of gene correlation network analysis, fine-mapping strategies and next generation sequencing as a mean to identify the novel candidate genes underlying fruit quality. (biomedcentral.com)
Syndrome2
- Here, we tested the efficacy of SAK3 (ethyl 8′-methyl-2′, 4-dioxo-2-(piperidin-1-yl)-2′H-spiro [cyclopentane-1, 3′-imidazo [1, 2-a] pyridine]-2-ene-3-carboxylate), a T-type calcium channel enhancer, in an animal model of TAF1 intellectual disability (ID) syndrome. (nyu.edu)
- TAF1 ID is usually associated with microcephaly, but our case describes macrocephaly as a novel feature to this syndrome. (sbni2023.com.br)
Variant1
- In females (who have two X chromosomes), a variant typically must occur in both copies of the gene to cause the disorder. (medlineplus.gov)
THAP11
- The neural localization of the 50 kDa species and its nuclear compartmentalization suggests that these may be key Thap1 species controlling neuronal gene transcription. (biomedcentral.com)
Progression1
- Variations in these genes are known to significantly impact tumor pathogenesis, progression, and metastasis. (cegat.com)
Genetic1
- This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. (medlineplus.gov)
Pathway2
- Currently, there are 273 genes in SZGR 2.0 (with evidence in schizophrenia) that are present at this pathway. (uth.edu)
- We conclude that the T-type calcium channel enhancer SAK3 is beneficial against the deleterious effects of TAF1 gene-editing, in part, by stimulating the BDNF/AKT/GSK3β signaling pathway. (nyu.edu)
Sequence1
- Recent studies have identified a DNA insertion (retrotransposon) in the TAF1 gene that creates an abnormal repetitive sequence, consequently inhibiting normal TAF1 expressions. (sunshinecarefoundation.org)
Binds1
- BAF60 binds nucleosome-free regions of multiple G box-containing genes, opposing in cis the promoting effect of the photomorphogenic and thermomorphogenic regulator Phytochrome Interacting Factor 4 (PIF4) on hypocotyl elongation. (biomedcentral.com)
Polypeptide1
- Recently, we described the characterisation of a parasite gene (TashAT2), whose polypeptide product bears AT hook DNA-binding motifs and may be transported from the parasite to the host nucleus. (lookformedical.com)
Increases2
- TAF1-mediated phosphorylation of TP53 increases affinity of TP53 for the ubiquitin ligase MDM2, thus promoting TP53 degradation (Li et al. (reactome.org)
- Under conditions of continued metal exposure, we show that TAF1 depletion increases the magnitude of the initial transcription burst, but has no effect on the timing of that burst. (refine.bio)