Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.
The enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol mediating the transfer of an acyl group from lecithin to the 3-hydroxy group of cholesterol. Deficiency of the enzyme is a well-known syndrome with a widespread geographic occurrence. We have cloned an allele from a patient homozygous for the LCAT deficiency. The only change that we could detect is a C to T transition in the fourth exon of the gene; this causes a substitution of Arg for Trp at position 147 of the mature protein. The functional significance of such a substitution with respect to the enzyme defect was demonstrated by transfecting the mutated LCAT gene in the cell line COS-1.
Taramelli
R
R
Dipartimento di Genetica e di Biologia dei Microrganismi, Milan, Italy.
Pontoglio
M
M
Candiani
G
G
Ottolenghi
S
S
Dieplinger
H
H
Catapano
A
A
Albers
J
J
Vergani
C
C
McLean
J
J
D000483:Alleles; D000595:Amino Acid Sequence; D015342:DNA Probes; D005091:Exons; D005784:Gene Amplification; D006720:Homozygote; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007438:Introns; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014162:Transfection
D015342:DNA Probes