Source:http://linkedlifedata.com/resource/pubmed/id/10732814
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2000-4-12
|
| pubmed:abstractText |
We describe two previously unrecognized splice site mutations of GCH1 in Dopa responsive dystonia (DRD). Both mutations affect consensus splice acceptor (AG) sites. The first mutation is an A-->G transition at position -2 of intron 1 of GCH1. This mutation results in skipping of exon 2. Fusion of exons 1 and 3 causes a frame shift that generates a premature stop codon. The second mutation is an A-->G transition at position -2 of intron 2. The mutation generates a new splice acceptor site AG one base pair upstream of the wild-type splice site. This, together with a pyrimidine stretch upstream of the new splice site, renders this site functional and generates a transcript with the insertion of one base, i.e. the G of the wild-type splice site. This in turn causes a frame shift including the introduction of a premature stop codon. The two different mutations generate truncated GTP cyclohydrolase polypeptides.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
1364-6745
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
1
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
125-7
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10732814-Adolescent,
pubmed-meshheading:10732814-Adult,
pubmed-meshheading:10732814-Alternative Splicing,
pubmed-meshheading:10732814-Amino Acid Sequence,
pubmed-meshheading:10732814-Antiparkinson Agents,
pubmed-meshheading:10732814-Base Sequence,
pubmed-meshheading:10732814-Child,
pubmed-meshheading:10732814-Child, Preschool,
pubmed-meshheading:10732814-DNA,
pubmed-meshheading:10732814-DNA Mutational Analysis,
pubmed-meshheading:10732814-Dystonia,
pubmed-meshheading:10732814-Exons,
pubmed-meshheading:10732814-Female,
pubmed-meshheading:10732814-Follow-Up Studies,
pubmed-meshheading:10732814-Frameshift Mutation,
pubmed-meshheading:10732814-GTP Cyclohydrolase,
pubmed-meshheading:10732814-Humans,
pubmed-meshheading:10732814-Levodopa,
pubmed-meshheading:10732814-Mutation,
pubmed-meshheading:10732814-Point Mutation,
pubmed-meshheading:10732814-Polymorphism, Single-Stranded Conformational
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion.
|
| pubmed:affiliation |
Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|