Linked Life Data

1315304

Source:http://linkedlifedata.com/resource/pubmed/id/1315304

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1992-5-29
pubmed:abstractText
Fabry disease, an inborn error of glycosphingolipid catabolism, results from lesions in the X-linked gene encoding the human lysosomal hydrolase, alpha-galactosidase A (alpha-D-galactoside galactohydrolase; EC 3.2.1.22). To detect alpha-galactosidase A RNA processing or stability defects causing Fabry disease, Northern hybridization analyses were performed with poly(A)+ RNA isolated from cultured lymphoblasts from unrelated Fabry hemizygotes. Using a riboprobe complimentary to the normal 1.45-kb alpha-galactosidase A mRNA, a single 1.25-kb transcript was identified in three classically affected brothers from a Japanese Fabry family. Densitometric analysis revealed that the 1.25-kb transcripts were present at 50 to 60% of normal amounts. RNase A analysis identified a deletion of about 200 bp that appeared to include the entire 198 bp of exon 6. Amplification and direct sequencing of a genomic region containing exon 6 from an affected hemizygote revealed a g+1 to t transversion in the invariant gt consensus 5'-splice site of intron 6, which resulted in the deletion of the entire exon 6 sequence. This novel splicing lesion causing Fabry disease is the first g+1 to t transversion of a mammalian 5'-splice site that consistently eliminates the preceding exon.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
643-50
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
pubmed:affiliation
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't