Linked Life Data

14605506

Source:http://linkedlifedata.com/resource/pubmed/id/14605506

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-11-10
pubmed:abstractText
Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been identified. We describe the genetic analysis of a patient with NAGSD using low-level transcripts derived from cultured fibroblasts. One defective allele (c.1306-1307insT) was detected by PCR amplification. However, the transcript from a second mutation (IVS3 - 2A>T), causing aberrant splicing with the generation of a premature termination codon, was not detected until interference of nonsense-mediated mRNA decay was abrogated by the translation inhibitor cycloheximide. We demonstrate that low-level transcripts in cells that do not express significant enzyme activity are a valuable tool for molecular studies of genetic alterations, and suggest routine abrogation of nonsense-mediated mRNA decay using cycloheximide when transcript analysis is performed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
601-5
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed-meshheading:14605506-Acetyltransferases, pubmed-meshheading:14605506-Alleles, pubmed-meshheading:14605506-Amino Acid Metabolism, Inborn Errors, pubmed-meshheading:14605506-Amino-Acid N-Acetyltransferase, pubmed-meshheading:14605506-Cells, Cultured, pubmed-meshheading:14605506-Codon, pubmed-meshheading:14605506-Codon, Nonsense, pubmed-meshheading:14605506-Cycloheximide, pubmed-meshheading:14605506-DNA, Complementary, pubmed-meshheading:14605506-Female, pubmed-meshheading:14605506-Fibroblasts, pubmed-meshheading:14605506-Humans, pubmed-meshheading:14605506-Infant, Newborn, pubmed-meshheading:14605506-Protein Synthesis Inhibitors, pubmed-meshheading:14605506-RNA, Messenger, pubmed-meshheading:14605506-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:14605506-Transcription, Genetic
pubmed:year
2003
pubmed:articleTitle
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.
pubmed:affiliation
Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde, Münster, Germany. haeb@uni-muenster.de
pubmed:publicationType
Journal Article, Case Reports