A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein

Atherosclerosis

Volumn 131, Issue 1, 1997, Pages 67-72

  Jensen, H K ^a   Holst, H ^b   Jensen, L G ^a,b   Jorgensen M M ^a   Andreasen, P H ^a   Jensen, T G ^b   Andresen, B S ^a   Heath, F ^a   Hansen, P S ^a   Neve, S ^c   Kristiansen, K ^c   Faergeman O ^a   Kolvraa S ^b   Bolund, L ^b   Gregersen, N ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

Confocal immunofluorescence microscopy; Familial hypercholesterolemia; Flow cytometry; Low density lipoprotein receptor; Mutations; Transfection

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MUTANT PROTEIN; RECEPTOR PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL TRANSPORT; DENMARK; ENDOPLASMIC RETICULUM; FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; MAJOR CLINICAL STUDY; MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONSERVED SEQUENCE; COS CELLS; DENMARK; EXONS; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MICROSCOPY, CONFOCAL; POINT MUTATION; RECEPTORS, LDL; REPETITIVE SEQUENCES, NUCLEIC ACID; SERINE; TRANSFECTION; TRYPTOPHAN;

EID: 17944398616     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(96)06059-5     Document Type: Article

References (20)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, and Valle D (eds). The Metabolic Basis of Inherited Disease, 7th edn. New York: McGraw-Hill 1995; 1981.
2. Kotze MJ, Langenhoven E, Warnich L, Du Plesis L, Retief AE. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners. Ann Hum Genet 1991;55:115.
3. Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian Population. J Clin Invest 1990;85:1014.
4. Koivisto UM, Viikari JS, Kontula K. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: Identification of two common missense mutations (Gly823 → Asp and Leu380 → His) and eight rare mutations of the LDL receptor gene. Am J Hum Genet 1995;57:789.
5. Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994;111:175.
6. 66-Gly mutations of the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark. Atherosclerosis 1996;120:57.
7. Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the LDL receptor gene validated by DNA sequencing. Clin Chem 1996;42:1140.
8. Hansen PS, Rüdiger N, Tybjærg-Hansen A, Færgeman O, Gregersen N. Detection of the apo B-3500 mutation by gene amplification and cleavage with MspI. J Lipid Res 1991;32:1229.
9. Friedewald WT, Levy FI, Fredrickson DS. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use af the preparative ultracentrifuge. Clin Chem 1972;18:499.
10. Jensen LG, Jensen HK, Heath F, Kjeldsen M, Faergeman O, Kølvraa S, Bolund L, Gregersen N. Allele-specific measurement of low-density lipoprotein receptor transcript levels. Hum Mutat 1996;8:126.
11. Nagai K, Thøgersen HC. Synthesis and sequence-specific proteolysis of hybrid proteins produced in Escherichia coli. Methods Enzymol 1987;153:461.
12. Sarkar G, Sommer SS. The 'Megaprimer' method for site-directed mutagenesis. Biotechniques 1990;8:404.
13. Graham FL, van der Eb AJ. A new technique for the assay of infectivity of human adenovirus IV DNA. Virology 1973;52:456.
14. Beisiegel U, Schneider WJ, Goldstein JL, Anderson RGW, Brown MS. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem 1981;256:11923.
15. 119-Lys mutation in the low density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia. Hum Mutat 1994;4:102.
16. Jensen TG, Andresen BS, Jensen HK, Jensen LG, Heath F, Pedersen S, Nielsen V, Jensen UB, Lund TB, Gregersen N, Kølvraa S, Bolund L. Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells. German J Gastroenterol 1996;Suppl 3;34:9.
17. Springer TA. Purification of proteins by precipitation. In: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, and Struhl K (eds). Current Protocols, New York: John Wiley & Sons 1991;10.16.1.
18. Simard J, Moorjani S, Vohl MC, Couture P, Torres AL, Gagne C, Despres JP, Labrie F, Lupien PJ. Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet 1994;3:1689.
19. Craig EA, Gambill BD, Nelson RJ. Heat shock proteins: Molecular chaperones of protein biogenesis. Microbiol Rev 1993;57:402.
20. 2 oligosaccharide as an initial step in recognizing unfolded glycoproteins. J Biol Chem 1995;270:4697.