Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
1998-10-14
|
| pubmed:abstractText |
Apolipoprotein[a] (apo[a]), a unique component of atherogenic lipoprotein[a], is highly polymorphic in human and nonhuman primates. Null alleles, producing no detectable circulating Lp[a] or apo[a] isoforms, are found at high frequencies. The molecular basis of null alleles is not yet known. In baboons, approximately two-thirds of null alleles do not produce detectable hepatic transcripts (transcript negative nulls), and one-third of null alleles produce normal amounts of apo[a] transcripts (transcript positive nulls). We have cloned apo[a] cDNA from a baboon carrying a transcript positive null allele defective in secretion from primary hepatocytes. Compared with wild-type cDNA, the null allele contained an in-frame 47 amino acid deletion in the protease domain corresponding to one exon of the apo[a] gene. The null allele contains an A-->T substitution in the third nucleotide position of the intron downstream of the deleted exon which alters the donor splice site consensus sequence. Thus, this null is likely due to a mutation that prevents normal mRNA splicing, yielding a shortened protein that may be defective in intramolecular interactions required for normal processing and secretion of apo[a]. This is the first report of a molecular basis for apo[a] null alleles.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Apoprotein(a),
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/Lipoprotein(a),
http://linkedlifedata.com/resource/pubmed/chemical/Plasminogen,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger
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| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0022-2275
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
39
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1319-26
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:9684734-Alleles,
pubmed-meshheading:9684734-Alternative Splicing,
pubmed-meshheading:9684734-Amino Acid Sequence,
pubmed-meshheading:9684734-Animals,
pubmed-meshheading:9684734-Apolipoproteins,
pubmed-meshheading:9684734-Apoprotein(a),
pubmed-meshheading:9684734-Base Sequence,
pubmed-meshheading:9684734-Cloning, Organism,
pubmed-meshheading:9684734-DNA Primers,
pubmed-meshheading:9684734-Exons,
pubmed-meshheading:9684734-Humans,
pubmed-meshheading:9684734-Introns,
pubmed-meshheading:9684734-Lipoprotein(a),
pubmed-meshheading:9684734-Liver,
pubmed-meshheading:9684734-Macaca mulatta,
pubmed-meshheading:9684734-Molecular Sequence Data,
pubmed-meshheading:9684734-Papio,
pubmed-meshheading:9684734-Plasminogen,
pubmed-meshheading:9684734-Polymerase Chain Reaction,
pubmed-meshheading:9684734-RNA, Messenger,
pubmed-meshheading:9684734-Sequence Alignment,
pubmed-meshheading:9684734-Sequence Deletion,
pubmed-meshheading:9684734-Sequence Homology, Nucleic Acid,
pubmed-meshheading:9684734-Transcription, Genetic
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Molecular basis of an apolipoprotein[a] null allele: a splice site mutation is associated with deletion of a single exon.
|
| pubmed:affiliation |
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|