Linked Life Data

15533937

Source:http://linkedlifedata.com/resource/pubmed/id/15533937

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2005-2-7
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0021-9258
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
280
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3898-910
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts.
pubmed:affiliation
Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't