| pubmed-article:15533937 | pubmed:abstractText | Spinocerebellar ataxia type 2 (SCA2), one of the hereditary human neurodegenerative disorders, is caused by the expansion of the CAG tandem repeats in the translated sequence of the SCA2 gene. In a normal population the CAG repeat is polymorphic not only in length but also in the number and localization of its CAA interruptions. The aim of this study was to determine the structure of the repeat region in the normal and mutant SCA2 transcripts and to reveal the structural basis of its normal function and dysfunction. We show here that the properties of the CAA interruptions are major determinants of the CAG repeat folding in the normal SCA2 transcripts. We also show that the uninterrupted repeats in mutant transcripts form slippery hairpins, whose length is further reduced by the base pairing of the repeat portion with a specific flanking sequence. The structural organization of the repeat interruption systems present in other human transcripts, such as SCA1, TBP, FOXP2, and MAML2, are also discussed. | lld:pubmed |
