Linked Life Data

12166656

Source:http://linkedlifedata.com/resource/pubmed/id/12166656

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-8-8
pubmed:abstractText
The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is the largest human gene. A full spectrum of the gene transcripts has not been fully elucidated yet, although two cryptic exons have so far been identified in the 5' region of the dystrophin gene. Here, a novel dystrophin mRNA containing a 62-nucleotide insertion between exons 3 and 4 was identified in lymphocytes from a Japanese Duchenne muscular dystrophy patient with a single nucleotide deletion in exon 5. The inserted 62-nucleotide sequence was found to be homologous to part of intron 3 and it was revealed that the insertion possessed branch point and both acceptor and donor splice site consensus sequences perfectly. Therefore, the 62-bp insertion sequence was considered to be a novel exon and was designated as exon 3a. However, this insertion was not present in the patient's muscle and 12 different normal tissues that were screened. The physiological role of the novel cryptic exon remains to be clarified.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
196-201
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.
pubmed:affiliation
Division of Molecular Medicine, Kobe University Graduate School of Medicine, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't