Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

scientific article published in September 2004

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/HUMU.20075
P698PubMed publication ID15300851

P50authorWłodzimierz KrzyżosiakQ9382702
Krzysztof SobczakQ50202410
P2860cites workCloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsQ24317096
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populationsQ24539225
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxiaQ28200233
Dynamic mutation: possible mechanisms and significance in human diseaseQ28256437
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?Q28256940
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1Q28261862
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6Q28268233
Trinucleotide repeats that expand in human disease form hairpin structures in vitroQ28301826
Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.Q30994864
The intrinsically unstable life of DNA triplet repeats associated with human hereditary disordersQ31497967
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typingQ33679225
Fourteen and counting: unraveling trinucleotide repeat diseasesQ33892634
Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiaeQ33961257
CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphismsQ34100075
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.Q34353488
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.Q34377735
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.Q34405223
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.Q34405231
Dominantly inherited, non-coding microsatellite expansion disordersQ34699401
Length of uninterrupted CGG repeats determines instability in the FMR1 geneQ39111985
The hereditary ataxiasQ40855070
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.Q41516217
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate allelesQ43970160
Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxiaQ44013380
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study GroupQ44511991
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 familiesQ45219624
The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controlsQ45302909
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?Q45305198
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome allelesQ47192550
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmissionQ47314769
Identification and characterization of the gene causing type 1 spinocerebellar ataxiaQ48080540
Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6.Q48166152
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlatesQ48486744
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.Q51975377
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.Q52025538
Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†Q56909185
Clinical and molecular features of spinocerebellar ataxia type 6Q57969455
Spinocerebellar ataxia type 1 in RussiaQ58027536
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1Q71088185
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCRQ73227146
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutationQ73621643
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindredsQ73684435
Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 familiesQ73860798
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansionQ73884484
Population variation analysis at nine loci containing expressed trinucleotide repeatsQ74154962
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern IndiaQ74170871
Neurodegenerative diseases. Origins of instabilityQ74220077
Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23Q77768903
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 familiesQ78081110
P433issue3
P304page(s)236-247
P577publication date2004-09-01
P1433published inHuman MutationQ5937269
P1476titlePatterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
P478volume24

Reverse relations

cites work (P2860)
Q35581548A matter of life or death: how microsatellites emerge in and vanish from the human genome
Q57305142A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus
Q36651700Androgen receptor polyglutamine repeat number: models of selection and disease susceptibility
Q24317006Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways
Q35119694Ataxin-2 repeat-length variation and neurodegeneration
Q33752268Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes.
Q79568360CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci
Q33285435CAG-encoded polyglutamine length polymorphism in the human genome
Q37716781Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch.
Q34329735Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.
Q54544840Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis".
Q28069787Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1
Q54478897Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences.
Q81140965Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms
Q47351608Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.
Q47985665Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature
Q50867910Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.
Q33333636Microsatellite evolution: Mutations, sequence variation, and homoplasy in the hypervariable avian microsatellite locus HrU10
Q28540820Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes
Q39605747Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
Q33791247Oligonucleotide-based strategies to combat polyglutamine diseases
Q34152667Polyglutamine repeats are associated to specific sequence biases that are conserved among eukaryotes.
Q24810496Positive selection of a pre-expansion CAG repeat of the human SCA2 gene
Q36859984RNA toxicity in polyglutamine disorders: concepts, models, and progress of research
Q37940388Repeat expansion diseases: when a good RNA turns bad.
Q42958171Response to Falush: a role for cis-element polymorphisms in HD.
Q51707347Selection pressure on human STR loci and its relevance in repeat expansion disease.
Q48634807Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations
Q37747172Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions
Q34917022The role of interruptions in polyQ in the pathology of SCA1.
Q35633648Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target
Q35603679Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles
Q89029766WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

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