| http://purl.uniprot.org/citations/19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19676102 | http://www.w3.org/2000/01/rdf-schema#comment | "The spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by gait and limb ataxia. This disease is caused by the expansion of a (CAG)(n) located in the ATXN2, that encodes a polyglutamine tract of more than 34 repeats. Lately, alleles with 32-33 CAGs have been associated to late-onset disease cases. Repeat interruptions by CAA triplets are common in normal alleles, while expanded alleles usually contain a pure repeat tract. To investigate the mutational origin and the instability associated to the ATXN2 repeat, we performed an extensive haplotype study and sequencing of the CAG/CAA repeat, in a cohort of families of different geographic origins and phenotypes. Our results showed (1) CAA interruptions also in expanded ATXN2 alleles; (2) that pathological CAA interrupted alleles shared an ancestral haplotype with pure expanded alleles; and (3) higher genetic diversity in European SCA2 families, suggesting an older European ancestry of SCA2. In conclusion, we found instability towards expansion in interrupted ATXN2 alleles and a shared ancestral ATXN2 haplotype for pure and interrupted expanded alleles; this finding has strong implications in mutation diagnosis and counseling. Our results indicate that interrupted alleles, below the pathological threshold, may be a reservoir of mutable alleles, prone to expansion in subsequent generations, leading to full disease mutation."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.b.31013"xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Coutinho P."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Martins S."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Sequeiros J."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Jardim L.B."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Alonso I."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Silveira I."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Ramos E.M."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Emmel V.E."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/author | "Saraiva-Pereira M.L."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/name | "Am J Med Genet B Neuropsychiatr Genet"xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/pages | "524-531"xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/title | "Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)."xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://purl.uniprot.org/core/volume | "153B"xsd:string |
| http://purl.uniprot.org/citations/19676102 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19676102 |
| http://purl.uniprot.org/citations/19676102 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTA3-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTA5-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTA6-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTA7-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTB1-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |
| http://purl.uniprot.org/uniprot/#_D2CTB2-mappedCitation-19676102 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19676102 |