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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1991-8-14
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pubmed:abstractText |
Apolipoprotein (apo) A-IV is a protein involved in the metabolism of chylomicrons and high density lipoproteins. This protein displays genetic polymorphism due to two main codominant alleles, A-IV1 and A-IV2. We have identified the mutation that leads to this polymorphism. It is caused by a single-base substitution of guanine for thymine in the third base of codon 360. This substitution leads to a glutamine to histidine change. Direct sequencing of amplified DNA from eight subjects in a three-generation pedigree has demonstrated that the guanine to thymine substitution can explain the apo A-IV polymorphism. In 32 unrelated individuals, a correspondence between apo A-IV phenotype determined by isoelectric focusing and genotype determined with Fnu4HI digestion of amplified DNA could be demonstrated. The enzyme lecithin:cholesteryl acyltransferase (LCAT) is activated by apo A-IV. Under our in vitro conditions, the isoprotein apo A-IV 1-1 is a better LCAT activator than is the isoprotein apo A-IV 2-2. A knowledge of the molecular mechanism underlying the apo A-IV polymorphism will help to elucidate the mechanisms involved in LCAT activation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1049-8834
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
851-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2065039-Amino Acid Sequence,
pubmed-meshheading:2065039-Apolipoproteins A,
pubmed-meshheading:2065039-Base Sequence,
pubmed-meshheading:2065039-DNA Mutational Analysis,
pubmed-meshheading:2065039-Enzyme Activation,
pubmed-meshheading:2065039-Genotype,
pubmed-meshheading:2065039-Glutamine,
pubmed-meshheading:2065039-Guanine Nucleotides,
pubmed-meshheading:2065039-Histidine,
pubmed-meshheading:2065039-Humans,
pubmed-meshheading:2065039-Isoelectric Focusing,
pubmed-meshheading:2065039-Molecular Sequence Data,
pubmed-meshheading:2065039-Mutagenesis, Site-Directed,
pubmed-meshheading:2065039-Pedigree,
pubmed-meshheading:2065039-Phosphatidylcholine-Sterol O-Acyltransferase,
pubmed-meshheading:2065039-Polymerase Chain Reaction,
pubmed-meshheading:2065039-Polymorphism, Genetic,
pubmed-meshheading:2065039-Thymine Nucleotides
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pubmed:articleTitle |
The mutation causing the common apolipoprotein A-IV polymorphism is a glutamine to histidine substitution of amino acid 360.
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pubmed:affiliation |
National Public Health Institute, Helsinki, Finland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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