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Transcription FactorsPAX2 Transcription FactorPaired Box Transcription FactorsTranscription, GeneticPAX7 Transcription FactorPAX9 Transcription FactorDNA-Binding ProteinsPromoter Regions, GeneticHomeodomain ProteinsMolecular Sequence DataBase SequenceRepressor ProteinsSp1 Transcription FactorGene Expression RegulationGene Expression Regulation, DevelopmentalTrans-ActivatorsTranscriptional ActivationBinding SitesB-Cell-Specific Activator ProteinBasic Helix-Loop-Helix Transcription FactorsEye ProteinsNuclear ProteinsRNA, MessengerProtein BindingForkhead Transcription FactorsTranscription Factor AP-1Cell LineAmino Acid SequenceSignal TransductionCell DifferentiationMutationDNABasic-Leucine Zipper Transcription FactorsAniridiaTranscription Factor AP-2TransfectionCell NucleusGenes, ReporterChromatin ImmunoprecipitationKruppel-Like Transcription FactorsTranscription Factors, TFIICells, CulturedReverse Transcriptase Polymerase Chain ReactionHeLa CellsYY1 Transcription FactorSTAT3 Transcription FactorEnhancer Elements, GeneticElectrophoretic Mobility Shift AssayGATA4 Transcription FactorTranscription Factor TFIIDTranscription Initiation SiteActivating Transcription Factor 3NFATC Transcription FactorsZinc FingersGene Expression ProfilingSp3 Transcription FactorNF-kappa BCloning, MolecularRegulatory Sequences, Nucleic AcidRhabdomyosarcoma, AlveolarRecombinant Fusion ProteinsMicrophthalmia-Associated Transcription FactorGene ExpressionActivating Transcription Factor 2In Situ HybridizationTranscription Factor TFIIBPlasmidsE2F1 Transcription FactorRNA Polymerase IIMice, TransgenicBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsTCF Transcription FactorsGATA3 Transcription FactorProtein Structure, TertiaryMEF2 Transcription FactorsLuciferasesPhenotypeGATA1 Transcription FactorGATA2 Transcription FactorCell Line, TumorMice, KnockoutGene Expression Regulation, FungalGATA Transcription FactorsSequence Homology, Amino AcidOligonucleotide Array Sequence AnalysisModels, BiologicalChromatinSTAT1 Transcription FactorHelix-Loop-Helix MotifsActivating Transcription FactorsPhosphorylationBlotting, WesternDown-RegulationTranscription Factor RelAE2F Transcription FactorsMice, Inbred C57BLCell LineageTranscription Factor 7-Like 1 ProteinProto-Oncogene ProteinsModels, Genetic
Skeletal muscleProteinNuclearSequenceActivationFunctionsExpressionSpecificDirectlyFamilyChromosomalTranscriptionalRhabdomyosarcomaDifferentiationMember of the paired boxInhibitsMyogenesisMyogenic regulatRegulatesZebrafishNeuralExonProteinsRolesGene expressionProgressionVariantHumanRearrangementsFunctionCellsSmallActivityLossPaired box
Skeletal muscle1
  • During development, one of the major lineages expressing Pax3 is the skeletal muscle lineage. (wikipedia.org)
Protein7
  • In addition, the PAX3 protein has a C-terminal transcriptional activation domain encoded by exons 7 and 8. (wikipedia.org)
  • The combination of these two DNA binding domains enable the PAX3 protein to recognize longer sequences containing PD and HD binding sites. (wikipedia.org)
  • Finally, PAX3 protein expression and function can be modulated by post-translational modifications. (wikipedia.org)
  • PAX3 can be phosphorylated at serines 201, 205 and 209 by kinases such as GSK3b, which in some settings will increase PAX3 protein stability. (wikipedia.org)
  • In addition, PAX3 can also undergo ubiquitination and acetylation at lysines 437 and 475, which regulates protein stability and function. (wikipedia.org)
  • The CDK4-cyclinD complex normally phosphorylates the retinoblastoma protein (Rb protein), leading to release of the E2F transcription factor and cell cycle progression. (medscape.com)
  • PAX3 and PAX7 binding protein 1. (gsea-msigdb.org)
Nuclear2
Sequence1
  • A common alternative splice affecting the PAX3 mRNA involves the sequence CAG at the 5' end of exon 3. (wikipedia.org)
Activation2
  • Interaction of PAX3 with other transcription factors (such as SOX10) or chromatin factors (such as PAX3/7BP) enables synergistic activation of PAX3 target genes. (wikipedia.org)
  • In contrast, binding of PAX3 to co-repressors, such as calmyrin, inhibits activation of PAX3 target genes. (wikipedia.org)
Functions2
  • In the C-terminus of PAX3, there is a proline, serine and threonine (PST)-rich region measuring 78 amino acids that functions to stimulate transcriptional activity. (wikipedia.org)
  • PAX3 functions as a transcriptional activator for most target genes, but also may repress a smaller subset of target genes. (wikipedia.org)
Expression3
  • These expression changes are effected through binding of PAX3 to specific recognition sites, which are situated in various genomic locations. (wikipedia.org)
  • Despite its cellular simplicity (five pairs of neurons), the MG exhibits conservation of transcription factor expression with the spinal cord of vertebrates. (biologists.com)
  • As a transcription factor whose expression is increased by DNA damage, p53 blocks cell division at the G1 phase of the cell cycle to allow DNA repair. (medscape.com)
Specific1
  • The phenophases of all plants showed a seasonal distribution pattern, as well as variation in synchrony of phenophases and specific sets of abiotic factors significantly influenced their phenophases. (bvsalud.org)
Directly2
  • These co-repressors may function by altering chromatin structure at target genes, inhibiting PAX3 recognition of its DNA binding site or directly altering PAX3 transcriptional activity. (wikipedia.org)
  • Our results suggest that the phenological patterns of four sympatric plant species are directly linked to climatic variables, but different abiotic factors affected different phenophases. (bvsalud.org)
Family1
Chromosomal4
  • The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region. (wikipedia.org)
  • 8. Chromosomal imbalances in pleomorphic rhabdomyosarcomas and identification of the alveolar rhabdomyosarcoma-associated PAX3-FOXO1A fusion gene in one case. (nih.gov)
  • 10. [Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma]. (nih.gov)
  • Recurrent chromosomal rearrangements found in rhabdomyosarcoma (RMS) produce the PAX3-FOXO1 fusion protein, which is an oncogenic driver and a dependency in this disease. (bvsalud.org)
Transcriptional8
  • In addition, the PAX3 protein has a C-terminal transcriptional activation domain encoded by exons 7 and 8. (wikipedia.org)
  • In the C-terminus of PAX3, there is a proline, serine and threonine (PST)-rich region measuring 78 amino acids that functions to stimulate transcriptional activity. (wikipedia.org)
  • PAX3 functions as a transcriptional activator for most target genes, but also may repress a smaller subset of target genes. (wikipedia.org)
  • PAX3 interacts with other nuclear proteins, which modulate PAX3 transcriptional activity. (wikipedia.org)
  • These co-repressors may function by altering chromatin structure at target genes, inhibiting PAX3 recognition of its DNA binding site or directly altering PAX3 transcriptional activity. (wikipedia.org)
  • Representative PAX3 transcriptional target genes. (wikipedia.org)
  • 13. A Fusion Transcription Factor-Driven Cancer Progresses to a Fusion-Independent Relapse via Constitutive Activation of a Downstream Transcriptional Target. (nih.gov)
  • Restoration of functional PAX3 transcriptional factor enhanced neuronal differentiation in PAX3b isoform-depleted neuroblastoma cells. (nih.gov)
Rhabdomyosarcoma9
  • Rearrangements of genetic material involving the PAX3 gene are associated with a cancer of muscle tissue called alveolar rhabdomyosarcoma, which typically affects adolescents and young adults. (medlineplus.gov)
  • 6. PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. (nih.gov)
  • 7. KDM3A/Ets1 epigenetic axis contributes to PAX3/FOXO1-driven and independent disease-promoting gene expression in fusion-positive Rhabdomyosarcoma. (nih.gov)
  • 9. PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification. (nih.gov)
  • 11. Detection of PAX3/PAX7-FKHR fusion transcripts in rhabdomyosarcoma and other small round cell tumors by 1-step reverse transcriptase polymerase chain reaction: a novel tool for diagnosis and differentiation. (nih.gov)
  • 16. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. (nih.gov)
  • 17. Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. (nih.gov)
  • The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. (nih.gov)
  • This approach has been successful in our models of infantile rhabdomyosarcoma and alveolar rhabdomyosarcoma, both driven by respective fusion-oncogenes, VGLL2-NCOA2 and PAX3-FOXO1. (bvsalud.org)
Differentiation4
  • The Sox6 transcription factor is a key regulator of fast-twitch muscle fiber differentiation in the zebrafish, a role similar to that ascribed to its murine ortholog. (biomedcentral.com)
  • One important function of PAX3-FOXO1 is to arrest myogenic differentiation, which is linked to the ability of RMS cells to gain an unlimited proliferation potential. (bvsalud.org)
  • Expression of the myogenic regulatory factors required to promote differentiation, MYOD and MYOG, was downregulated in the absence of JARID2, even though decreases in the methylation of histone H3 lysine 27 (H3K27 me3 ) were observed on both promoters. (biomedcentral.com)
  • MicroRNAs (miRNAs) are a class of gene expression regulatory factors, which play critical roles in the regulation of muscle cell differentiation. (biomedcentral.com)
Member of the paired box1
Inhibits2
  • In contrast, binding of PAX3 to co-repressors, such as calmyrin, inhibits activation of PAX3 target genes. (wikipedia.org)
  • Downregulation of the paired box gene 3 inhibits the progression of skin cutaneous melanoma by inhibiting c-MET tyrosine kinase : PAX3 downregulation inhibits melanoma progression. (nih.gov)
Myogenesis2
  • Studies suggest that the PAX3 protein is also necessary for the normal development of bones in the face and skull (craniofacial bones) and elsewhere in the body, and for the formation of muscle tissue (myogenesis). (medlineplus.gov)
  • The protein produced from the fused PAX3-FOXO1A gene has an increased ability to activate genes involved in myogenesis and can prevent cell death. (medlineplus.gov)
Myogenic regulat1
  • These molecular events are orchestrated by myogenic regulatory factors and miRNAs. (biomedcentral.com)
Regulates2
  • PAX3 regulates neural crest and, together with its orthologue PAX7, is also expressed in parts of the central nervous system. (nih.gov)
  • In addition, PAX3 can also undergo ubiquitination and acetylation at lysines 437 and 475, which regulates protein stability and function. (wikipedia.org)
Zebrafish1
  • In zebrafish, loss of function of the transcription factor Prdm1a results in a slow to fast-twitch fiber type transformation presaged by ectopic expression of sox6 in slow-twitch progenitors. (biomedcentral.com)
Neural4
  • Among the PAX3 target genes, there is one group associated with muscle development and a second group associated with neural and melanocyte development. (wikipedia.org)
  • During embryonic development, the PAX3 gene is active in cells called neural crest cells. (medlineplus.gov)
  • The protein made from the PAX3 gene directs the activity of other genes that signal neural crest cells to form specialized tissues or cell types such as some nerve tissue and pigment-producing cells called melanocytes. (medlineplus.gov)
  • As a result, the PAX3 protein cannot control the activity of other genes and cannot direct the neural crest cells to form specialized tissues. (medlineplus.gov)
Exon2
  • Shorter PAX3 isoforms include mRNAs that skip exon 8 (PAX3g and PAX3h) and mRNAs containing 4 or 5 exons (PAX3a and PAX3b). (wikipedia.org)
  • A common alternative splice affecting the PAX3 mRNA involves the sequence CAG at the 5' end of exon 3. (wikipedia.org)
Proteins1
Roles1
  • Like other subclasses within the PAX transcription factor family, PAX3 and PAX7 play important roles in the emergence of a number of different tissues during development. (nih.gov)
Gene expression2
  • The transcription factor Sox6 has been implicated in regulating muscle fiber type-specific gene expression in mammals. (biomedcentral.com)
  • This leads to disassembly of the destruction complex releasing free β-catenin in the cytoplasm, which later translocates to the nucleus and activates gene expression in concert with the T cell factor (TCF) and lymphoid enhancer-binding factor (LEF) families of transcription factors. (biomedcentral.com)
Progression1
  • The CDK4-cyclinD complex normally phosphorylates the retinoblastoma protein (Rb protein), leading to release of the E2F transcription factor and cell cycle progression. (medscape.com)
Variant4
  • At least one PAX3 gene variant (also known as a mutation) has been identified in individuals with craniofacial-deafness-hand syndrome, a condition characterized by distinctive facial features, profound hearing loss, and abnormalities of the hand muscles that can restrict movement. (medlineplus.gov)
  • The variant replaces a single protein building block (amino acid) called asparagine with another amino acid called lysine at position 47 in the PAX3 protein (written as Asn47Lys or N47K). (medlineplus.gov)
  • This variant appears to affect the ability of the PAX3 protein to bind to DNA. (medlineplus.gov)
  • A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate. (nih.gov)
Human3
  • Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. (wikipedia.org)
  • In other mammalian species, including mouse, the longest mRNAs correspond to the human PAX3c and PAX3d isoforms, which consist of the first 8 or 9 exons of the PAX3 gene, respectively. (wikipedia.org)
  • 12. Upstream CpG island methylation of the PAX3 gene in human rhabdomyosarcomas. (nih.gov)
Rearrangements3
  • The rearrangements cause the PAX3 gene to be fused with another gene, most commonly the FOXO1A gene (also called FKHR ) on chromosome 13. (medlineplus.gov)
  • Somatic rearrangements involving the PAX3 gene are also associated with a cancer of the nasal passages and sinuses called biphenotypic sinonasal sarcoma. (medlineplus.gov)
  • The genetic rearrangements involved in biphenotypic sinonasal sarcoma fuse the PAX3 gene with another gene, most commonly the MAML3 gene on chromosome 4. (medlineplus.gov)
Function2
  • Finally, PAX3 protein expression and function can be modulated by post-translational modifications. (wikipedia.org)
  • Additionally, loss of PAX3 protein function disrupts development of certain bones and muscles, producing abnormalities of the arms and hands in people with Waardenburg syndrome type III. (medlineplus.gov)
Cells1
  • The Q+ and Q- isoforms of PAX3 are generally co-expressed in cells. (wikipedia.org)
Small1
  • Other variants lead to an abnormally small version of the PAX3 protein. (medlineplus.gov)
Activity1
  • Researchers believe that all PAX3 gene variants have the same effect: they prevent the PAX3 protein from binding to DNA and regulating the activity of other genes. (medlineplus.gov)
Loss1
  • PAX3 gene variants have been identified in people with Waardenburg syndrome, a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. (medlineplus.gov)
Paired box1
  • PAX3 encodes a transcription factor with an N-terminal DNA binding domain consisting of a paired box (PD) encoded by exons 2, 3, and 4, and an octapeptide and complete homeodomain (HD) encoded by exons 5 and 6. (wikipedia.org)