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Trinucleotide Repeat ExpansionTrinucleotide RepeatsFriedreich AtaxiaDNA Repeat ExpansionSpinocerebellar DegenerationsMyotonic DystrophyFragile X SyndromeHuntington DiseaseFragile X Mental Retardation ProteinMicrosatellite RepeatsIron-Binding ProteinsAllelesRepetitive Sequences, Nucleic AcidMutationTandem Repeat SequencesBase SequenceSpinocerebellar AtaxiasMachado-Joseph DiseaseMolecular Sequence DataHeredodegenerative Disorders, Nervous SystemMinisatellite RepeatsNerve Tissue ProteinsPolymorphism, GeneticGenomic InstabilityDNADinucleotide RepeatsGenetic MarkersFrontotemporal DementiaPedigreePolymerase Chain ReactionFlap EndonucleasesAnticipation, GeneticGenetic VariationNucleic Acid ConformationSeverity of Illness IndexInverted Repeat SequencesDNA, SatelliteAge of OnsetSequence Analysis, DNACerebellar AtaxiaIntranuclear Inclusion BodiesChromosome FragilityGenotypeGenetic Diseases, InbornMuscular Dystrophy, OculopharyngealModels, GeneticRNA-Binding ProteinsPhenotypeDNA PrimersChromosome MappingAmyotrophic Lateral SclerosisHaplotypesGene FrequencyGenetics, PopulationNuclear ProteinsHeterozygoteNeurodegenerative DiseasesPeptidesDNA RepairGenome, HumanProteinsGenetic LinkageMice, TransgenicEvolution, MolecularReceptors, AndrogenAmino Acid SequenceGenes, DominantDNA, PlantMutS Homolog 2 ProteinDNA ReplicationTranscription, GeneticExonsPhylogenyDisease Models, AnimalRepetitive Sequences, Amino AcidDNA-Binding ProteinsSaccharomyces cerevisiaeMyoclonic Epilepsies, ProgressiveExpressed Sequence TagsRecombination, GeneticRNA, MessengerTandem Mass SpectrometryChromosomes, Human, XDNA Mutational AnalysisGenetic LociNucleic Acid HeteroduplexesSpecies Specificity
UpstreamRNAsTranslationClassResultsTypeFound
Upstream2
  • The first main category these authors discuss is repeat expansions located within the promoter region of a gene or located close to, but upstream of, a promoter region of a gene. (wikipedia.org)
  • Degeneration of neurons in FXTAS cell models can be triggered by accumulation of polyglycine protein (FMRpolyG), a by-product of translation initiated upstream to the repeats. (bvsalud.org)
RNAs2
  • In this second type of disorder, large repeat expansions in DNA are transcribed into pathogenic RNAs that form nuclear RNA foci. (wikipedia.org)
  • We found that inhibition of muscleblind-like (MBNL) splicing factors by expanded CUG RNAs alerts the splicing of autism-risk genes during brain development especially a class of autism-relevant microexons. (bvsalud.org)
Translation3
  • The third main category of trinucleotide repeat disorders and related microsatellite disorders is due to the translation of repeat sequenced into pathogenic proteins containing a stretch of repeated amino acids. (wikipedia.org)
  • Translation of these repeat expansions occurs mostly through two mechanisms. (wikipedia.org)
  • We demonstrate that cyclic mismatch binding ligand CMBL4c binds to RNA structure formed by CGG repeats and attenuates translation of FMRpolyG and formation of nuclear inclusions in cells transfected with vectors expressing RNA with expanded CGG repeats. (bvsalud.org)
Class1
Results1
  • This results in, variously, a toxic gain of function, a loss of function, a dominant negative effect and/or a mix of these mechanisms for the protein hosting the expansion. (wikipedia.org)
Type1
  • Tandem repeat expansions are enriched in autism spectrum disorder, including CTG expansion in the DMPK gene that underlines myotonic muscular dystrophy type 1. (bvsalud.org)
Found1
  • The second DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CCG repeat. (wikipedia.org)