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PMID: 2121025 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.

American journal of human genetics ·Vol. 47 ·No. 4 ·1990-10-00 ·Pages 721-6

Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM

Abstract

Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells.

MeSH Terms

Amino Acid Sequence Apolipoproteins/blood Base Sequence Child Cloning, Molecular DNA/genetics DNA Mutational Analysis Female Heterozygote Humans Hyperlipoproteinemia Type I/genetics Introns Lipids/blood Lipoprotein Lipase/deficiency,genetics Male Molecular Sequence Data Mutation Pedigree Plasmids/genetics Serine/genetics Threonine/genetics

Chemicals

Apolipoproteins Lipids Threonine Serine DNA Lipoprotein Lipase

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Hata A

Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.

Emi M

Luc G

Basdevant A

Gambert P

Iverius P H

Lalouel J M

References (26)

26 references, click to expand

Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
J Biol Chem. 1988 Jan 25;263(3):1107-10 PMID: 2447084
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
Proc Natl Acad Sci U S A. 1987 Aug;84(16):5947-51 PMID: 3475710
Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain.
J Biol Chem. 1988 Aug 5;263(22):10545-8 PMID: 3392024
Alterations of serum high-density lipoproteins and hepatic lipase activity in congenital hypothyroidism.
Biol Neonate. 1988;54(5):241-5 PMID: 3203118
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
Proc Natl Acad Sci U S A. 1989 Feb;86(3):948-52 PMID: 2536938
Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.
Nucleic Acids Res. 1989 Mar 25;17(6):2365 PMID: 2495524
Genotyping and sequence analysis of apolipoprotein E isoforms.
Genomics. 1988 Nov;3(4):373-9 PMID: 3243553
Structure of the canine pancreatic lipase gene.
J Biol Chem. 1989 Aug 5;264(22):12895-901 PMID: 2502543
Structure of the human lipoprotein lipase gene.
Biochemistry. 1989 May 16;28(10):4131-5 PMID: 2765475
Structure of bovine milk lipoprotein lipase.
J Biol Chem. 1989 Oct 5;264(28):16822-7 PMID: 2674142
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.
Am J Hum Genet. 1990 Jan;46(1):112-9 PMID: 2294743
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
J Biol Chem. 1990 Apr 5;265(10):5910-6 PMID: 1969408
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
Am J Hum Genet. 1990 Jul;47(1):107-11 PMID: 2349938
Empirical predictions of protein conformation.
Annu Rev Biochem. 1978;47:251-76 PMID: 354496
A new method for the measurement of lipoprotein lipase in postheparin plasma using sodium dodecyl sulfate for the inactivation of hepatic triglyceride lipase.
J Lipid Res. 1979 May;20(4):548-56 PMID: 458271
Immunochemical determination of human apolipoprotein B by laser nephelometry.
Clin Chim Acta. 1979 Jul 16;95(2):405-8 PMID: 393430
Simple, reproducible procedure for selective measurement of lipoprotein lipase and hepatic lipase.
Clin Chem. 1983 Jan;29(1):154-8 PMID: 6848252
Rapid and efficient site-specific mutagenesis without phenotypic selection.
Proc Natl Acad Sci U S A. 1985 Jan;82(2):488-92 PMID: 3881765
Supercoil sequencing: a fast and simple method for sequencing plasmid DNA.
DNA. 1985 Apr;4(2):165-70 PMID: 3996185
Detection of neutral amino acid substitutions in proteins.
Proc Natl Acad Sci U S A. 1985 Nov;82(22):7646-50 PMID: 3865185
Preparation, characterization, and measurement of lipoprotein lipase.
Methods Enzymol. 1986;129:691-704 PMID: 3523161
Splicing of messenger RNA precursors.
Annu Rev Biochem. 1986;55:1119-50 PMID: 2943217
Human growth hormone as a reporter gene in regulation studies employing transient gene expression.
Mol Cell Biol. 1986 Sep;6(9):3173-9 PMID: 3023965
Human lipoprotein lipase complementary DNA sequence.
Science. 1987 Mar 27;235(4796):1638-41 PMID: 3823907
Histochemical staining of clonal mammalian cell lines expressing E. coli beta galactosidase indicates heterogeneous expression of the bacterial gene.
Somat Cell Mol Genet. 1987 May;13(3):253-65 PMID: 2440117
Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction.
Methods Enzymol. 1987;155:335-50 PMID: 3431465

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1990-10-00

Pages

721-6

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683775

Subset

Grants

NHLBI NIH HHS · HL39595 · United States

External Links

PubMed source PMC Full Text View journal details

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Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.

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