Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene

Journal of Lipid Research

Volumn 40, Issue 2, 1999, Pages 213-220

  Rødningen, Olaug K ^a,b   Tonstad, Serena ^a   Medh, Jheem D ^c   Chappell, David A ^c   Ose, Leiv ^b   Leren, Trond P ^b  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

Deletion; Familial hypercholesterolemia; Homozygous FH; Low density lipoprotein receptor

Indexed keywords

CHOLESTEROL; COMPLEMENTARY DNA; CYSTEINE; DNA; IODINE 125; LIPID; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; MEVINOLIN; RADIOACTIVE IODINE; VERY LOW DENSITY LIPOPROTEIN;

ARTICLE; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE DELETION; HAPLOTYPE; HUMAN; HUMAN CELL; LIGAND BINDING; MAJOR CLINICAL STUDY; MUTATION; NORTHERN BLOTTING; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; BIOSYNTHESIS; BLOOD; CELL CULTURE; FIBROBLAST; GENETICS; GENOTYPE; HYPERLIPOPROTEINEMIA TYPE 2; METABOLISM; METHODOLOGY; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION;

BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; CELLS, CULTURED; DNA, COMPLEMENTARY; EXONS; FIBROBLASTS; GENE DELETION; GENOTYPE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; IODINE RADIOISOTOPES; LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; RNA, MESSENGER;

EID: 0032931727     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Heiberg, A., and K. Berg. 1976. The inheritance of hyperlipoproteinemia with xanthomatosis. A study of 132 kindreds. Clin. Genet. 9: 203-233.
2. Goldstein, J. L., H. H. Hobbs, and M. S. Brown. 1995. Familial hypercholesterolemia. In The Metabolic and Molecular Basis of Inherited disease. 7th ed. C. R. Scriver, A. I., Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York, NY. 1981-2030.
3. Müller, C. 1939. Angina pectoris in hereditary xanthomatosis. Arch. Intern. Med. 64: 675-700.
4. Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 4445-166.
5. Brown, M. S., and J. L. Goldstein. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science. 232: 34-17.
6. Südhof, T. C., J. L. Goldstein, M. S. Brown, and D. W. Russell. 1985. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228: 815-822.
7. Yamamoto, T., C. G. Davis, M. S. Brown, W. J. Schneider, M. L. Casey, J. L. Goldstein, and D. W. Russell. 1984. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its m-RNA. Cell. 39: 27-38.
8. Rødningen, O. K., T. P. Leren, O. Røsby, S. Tonstad, L. Ose, and K. Berg. 1993. Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia subjects. Clin. Genet. 44: 214-220.
9. Leitersdorf, E., A. Chakravarti, and H. H. Hobbs. 1989. Polymorphic DNA haplotypes at the LDL receptor locus. Am. J. Hum. Genet. 44: 109-421
10. Kotze, M. J., A. F., Retief, P. A. Brink, and H. E. H. Welch. 1986. A DNA polymorphism in the human low-density lipoprotein receptor gene. S. Afr. Med. J. 70: 77-79.
11. Hobbs, H. H., V. Esser, and D. W. Russell. 1987. Avall polymorphism in the human LDL receptor gene. Nucleic Acids Res. 15: 379.
12. Leitersdorf, E., and H. H. Hobbs. 1987. Human LDL receptor gene: two ApaLI RFLPs. Nucleic Acids Res. 15: 2782.
13. Kotze, M. J., E. Langenhoven, F. Dietzsch, and A. E. Retief. 1987. A RFLP associated with the low density lipoprotein receptor gene (LDLK). Nucliec Acids Res. 15: 376.
14. Funke, H., J. Klung, P. Frossard, R. Coleman, and G. Assmann. 1986. PstI RFLP close to the LDL receptor gene. Nucleic Acids Res. 14: 7820.
15. Røduingen, O. K., O. Røsby, S. Tonstad, L. Ose, K. Berg, and T. P. Leren. 1992. A 9.6 kb deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects. Clin. Genet. 42: 288-295.
16. Leitersdorf, E., E. J. Tobin, J. Davignon, and H. H. Hobbs. 1990. Common low-density lipoprotein receptor mutations in the French Canadian population. J. Clin. Invest. 85: 1014-1023.
17. Leren, T. P., K. Solberg, O. K. Rødningen, S. Tonstad, and L. Ose. 1994. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111: 175-182.
18. Maartmann-Moe, K., and P. Berg-Johnsen. 1981. Genetics of the low density lipoprotein receptor: I. Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without familial hypercholesteromia. Clin. Genet. 20: 90-103.
19. Rødningen, O. K., S. Tonstad, L. Ose, K. Berg, and T. P. Leren. 1998. Effects of a 9.6 kh deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA. Hum. Mutat. 12: 95-102.
20. Nakajima-Iijima, S., H. Hamada, P. Reddy, and T. Kakunaga. 1985. Molecular structure of the human beta-actin gene; interspecies homology sequence in the introns. Proc. Natl. Acad. Sci. USA. 82: 6133-6137.
21. Leren, T. P., O. K. Rødningen, O. Røsby, K. Solberg, and K. Berg. 1993. Screening for point mutations by semi-automated DNA sequencing using Sequenase and magnetic beads. Biotechniques. 14: 618-623.
22. Chappell, D. A. 1988. Pre-beta-very low density lipoproteins as precursors of beta-very low density lipoproteins. A model for the pathogenesis of familial dysbetalipoproteinemia (type III hyperlipoproteinemia). J. Clin. Invest. 82: 628-639.
23. Bilheimer, D. W., S. Eisenberg, and R. I. Levy. 1972. The metabolism of very low density lipoprotein proteins. I. Preliminary in vitro and in vivo observations. Biochim. Biophys. Acta. 260: 212-221.
24. Medh, J. D., S. L. Bowen, G. L. Fry, S. Ruben, M. Andracki, I. Inoue, J. M. Lalouel, D. K. Strickland, and D. A. Chappell. 1996. Lipoprotein lipase binds to low density lipoprotein receptors and induces receptor-mediated catabolism of very low density lipoproteins in vitro. J. Biol. Chem. 271: 17073-17080.
25. Lowry, O. H., N. J. Rosebrough, A. L. Farr, and R. J. Randall. 1951. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193: 265-275.
26. Lombardi, P., E. J. G. Sijbrands, K. van de Giessen, A. H. M. Smelt, J. J. P. Kastelein, R. R. Frants, and L. M. Havekes. 1995. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J. Lipid Res. 36: 860-867.
27. Leren, T. P., K. Solberg, O. K. Rødningen, L. Ose, S. Tonstad, and K. Berg. 1993. Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDI. receptor gene. PCR Methods Appl. 3: 159-162.
28. Leren, T. P., S. Tonstad, K. E. Gundersen, K. S. Bakken, O. K. Rødningen, H. Sundvold, L. Ose, and K. Berg. 1997. Molecular genetics of familial hypercholesterolaemia in Norway. J. Intern. Med. 241: 185-194.
29. Ma. Y., C. Bétard, M. Roy, J. Davignon, and A. Kessling. 1989. Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions. Clin. Genet. 36: 219-228.
30. Yamakawa, K., K. Takada, H. Yanagi, S. Tsuchiya, K. Kawai, S. Nakagawa, G. Kajiyama, and H. Hamaguchi. 1989. Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. Hum. Genet. 82: 317-321.
31. Kajinami, K., H. Fujita, J. Koizumi, H. Mabuchi, R. Takeda, and M. Ohta. 1989. Genetically determined mild type of familial hypercholesterolemia including normocholeslerolemic patients: FH-Tonami-2. Circulation. 80 (Suppl.): 11-278.
32. Mabuchi, H., K. Kajinami, H. Fujita, J. Koizumi, and R. Takeda. 1990. Mutations in the low density lipoprotein receptor gene in Japanese patients with familial hypercholesterolemia. Ann. NY Acad. Sci. 598: 393-397.
33. 2+ and monoclonal antibodies, but not lipoproteins. J. Biol. Chem. 262: 17443-17449.
34. Esser, V., L. E. Limbird, M. S. Brown, J. L. Goldstein, and D. W. Russell. 1988. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J. Biol. Chem. 263: 13282-13290.
35. Russell, D. W., M. S. Brown, and J. L. Goldstein. 1989. Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins. J. Biol. Chem. 264: 21682-21688.
36. Sass, G., L. M. Giroux, S. Lussier-Canan, J. Davignon, and A. Minnich. 1995. Unexpected consequences of deletion of the first two repeats of the ligand-binding domain from the low density lipoprotein receptor. J. Biol. Chem. 270: 25166-25171.
37. van Driel, I. R., C. G. Davis, J. L. Goldstein, and M. S. Brown. 1987. Self association of the low density lipoprotein receptor mediated by the cytoplasmic domain. J. Biol. Chem. 262: 17443-17449.
38. Patel, D. D., A. K. Soutar, and B. L. Knight. 1993. A mutation and an antibody that affect chemical cross-linking of low-density lipoprotein receptors on human fibroblasts. Biochem. J. 289: 569-573.