Identification of a novel Arg-→Cys mutation in the LDL receptor that contributes to spontaneous hypercholesterolemia in pigs

Journal of Lipid Research

Volumn 40, Issue 3, 1999, Pages 475-485

  Grunwald, Kurt A A ^a   Schueler, Kathryn ^a   Uelmen, Patricia J ^a   Lipton, Beth A ^a   Kaiser, Mary ^a   Buhman, Kimberly ^a   Attie, Alan D ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Apolipoprotein B; Cholesterol; Genetics; Hypercholesterolemia; LDL receptor; Pigs; Polymorphisms

Indexed keywords

APOLIPOPROTEIN B; ARGININE; CHOLESTEROL; CYSTEINE; LOW DENSITY LIPOPROTEIN RECEPTOR; VERY LOW DENSITY LIPOPROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BINDING SITE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE ISOLATION; GENE SEQUENCE; GENETIC ASSOCIATION; LYMPHOCYTE PROLIFERATION; MISSENSE MUTATION; MULTIFACTORIAL INHERITANCE; NONHUMAN; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; PROTEIN DETERMINATION; RECEPTOR AFFINITY; RECEPTOR BINDING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPECIES DIFFERENCE; SWINE;

AMINO ACID SEQUENCE; ANIMALS; CLONING, MOLECULAR; FEMALE; FIBROBLASTS; GENOTYPE; HYPERCHOLESTEROLEMIA; LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, LDL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SWINE; T-LYMPHOCYTES;

EID: 0033014721     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Berg, K. 1983. Genetics of coronary heart disease. Prog. Med. Genet. 5: 35-90.
2. Breslow, J. L. 1993. Genetics of lipoprotein disorders. Circulation. 88: III 16-21.
3. Rapacz, J. 1978. Lipoprotein immunogenetics and atherosclerosis. Am. J. Med. Genet. 1: 377-405.
4. Rapacz, J., J. Hasler-Rapacz, K. M. Taylor, W. J. Checovich, and A. D. Attie. 1986. Lipoprotein mutations in pigs are associated with elevated plasma cholesterol and atherosclerosis. Science. 234: 1573-1577.
5. Checovich, W. J., R. J. Aiello, and A. D. Attie. 1991. Overproduction of a buoyant low density lipoprotein subspecies in spontaneously hypercholesterolemic mutant pigs. Arterioscler. Thromb. 11: 351-361.
6. Checovich, W. J., W. L. Fitch, R. M. Krauss, M. P. Smith, J. Rapacz, C. L. Smith, and A. D. Attie. 1988. Defective catabolism and abnormal composition of low-density lipoproteins from mutant pigs with hypercholesterolemia. Biochemistry. 27: 1934-1941.
7. Lowe, S. W., W. J. Checovich, J. Rapacz, and A. D. Attie. 1988. Defective receptor binding of low density lipoprotein from pigs possessing mutant apolipoprotein B alleles. J. Biol. Chem. 263: 15467-15473.
8. Ebert, D. L., N. Maeda, S. W. Lowe, J. Hasler-Rapacz, J. Rapacz, and A. D. Attie. 1988. Primary structure comparison of the proposed low density lipoprotein (LDL) receptor binding domain of human and pig apolipoprotein B: implications for LDL-receptor interactions. J. Lipid Res. 29: 1501-1509.
9. Maeda, N., D. L. Ebert, T. M. Doers, M. Newman, J. Hasler-Rapacz, A. D. Attie, J. Rapacz, and O. Smithies. 1988. Molecular genetics of the apolipoprotein B gene in pigs in relation to atherosclerosis. Gene. 70: 213-218.
10. Purtell, C., N. Maeda, D. L. Ebert, M. Kaiser, S. Lund-Katz, S. L. Sturley, V. Kodoyianni, K. Grunwald, D. N. Nevin, and A. D. Attie. 1993. Nucleotide sequence encoding the carboxy-terminal half of apolipoprotein B from spontaneously hypercholesterolemic pigs. J. Lipid Res. 34: 1323-1335.
11. Aiello, R. J., D. N. Nevin, D. L. Ebert, P. J. Uelmen, M. Kaiser, J. MacCluer, J. Blangero, T. D. Dyer, and A. D. Attie. 1994. Apolipoprotein B and a second major gene locus contribute to phenotypic variation of spontaneous hypercholesterolemia in pigs. Arterioscler. Thromb. 14: 409-419.
12. Kaiser, M., D. N. Nevin, S. L. Sturley, C. Purtell, and A. D. Attie. 1993. Rapid determination of pig apolipoprotein B gentoype by gene amplification and RFLP analysis. Anim. Genet. 24: 117-120.
13. Ellsworth, J. L., F. B. Kraemer, and A. D. Cooper. 1987. Transport of beta-very low density lipoproteins and chylomicron remnants by macrophages is mediated by the low density lipoprotein receptor pathway. J. Biol. Chem. 262: 2316-2325.
14. Markwell, M. K., S. M. Haas, L. L. Bieber, and N. E. Tolbert. 1978. A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples. Anal. Biochem. 87: 206-210.
15. Daniel, T. O., W. J. Schneider, J. L. Goldstein, and M. S. Brown. 1983. Visualization of lipoprotein receptors by ligand blotting. J. Biol. Chem. 258: 4606-4611.
16. Cuthbert, J. A., C. A. East, D. W. Bilheimer, and P. E. Lipsky. 1986. Detection of familial hypercholesterolemia by assaying funtional low-density-lipoprotein receptors on lymphocytes. N. Engl. J. Med. 314: 879-883.
17. Cuthbert, J. A., and P. E. Lipsky. 1989. Identification of low density functional receptor abnormalities by assaying functional receptors on proliferating lymphocytes. Arteriosclerosis. 9: I43-I49.
18. 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.
19. Jee, J. S. 1991. Laboratory methods: alternative dideoxy sequencing of double-stranded DNA by cyclic reactions using Taq polymerase. DNA Cell Biol. 10: 67-73.
20. Garmey, J. C., R. N. Day, K. H. Day, and J. D. Veldhuis. 1993. Mechanisms of regulation of ovarian sterol metabolism by insulin-like growth factor type II: in vitro studies with swine granulosa cells. Endocrinology. 133: 800-808.
21. Orita, M., H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya. 1989. Detection of polymorphisms of human DNA by gel electrophoresis of single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86: 2766-2770.
22. Sakuma, N., S. Iwata, T. Ichikawa, and T. Fujinami. 1992. Assessment of functional low-density-lipoprotein receptors on lymphocytes by a simplified method using culture medium with lipoprotein-free fetal calf serum and pravastatin. Clin. Biochem. 25: 368-370.
23. Innerarity, T. L., K. H. Weisgraber, K. S. Arnold, R. M. Mahley, R. M. Krauss, G. L. Vega, and S. M. Grundy. 1987. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc. Natl. Acad. Sci. USA. 84: 6919-6923.
24. Innerarity, T. L., R. W. Mahley, K. H. Weisgraber, T. P. Bersot, R. M. Krauss, G. L. Vega, S. M. Grundy, W. Friedl, J. Davignon, and B. J. McCarthy. 1990. Familial defective polipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid Res. 31: 1337-1349.
25. Hasler-Rapacz, J., H. Ellegren, A. Fridolfsson, B. Kirkpatrick, S. Kirk, L. Andersson, and J. Rapacz. 1998. Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine. Am. J. Med. Genet. 76: 379-386.
26. 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 mRNA. Cell 39: 27-38.
27. Esser, V., and D. W. Russell. 1988. Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport. J. Biol. Chem. 263: 13276-13281.
28. 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.
29. Daly, N. L., M. J. Scanlon, J. T. Djordjevic, P. A. Kroon, and R. Smith. 1995. Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor. Proc. Natl. Acad. Sci. USA. 92: 6334-6338.
30. Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
31. Yamamoto, T., R. W. Bishop, M. S. Brown, J. L. Goldstein, and D. W. Russell. 1986. Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. Science. 232: 1230-1237.
32. Bishop, R. W. 1992. Structure of the hamster low density lipoprotein receptor gene. J. Lipid Res. 33: 549-557.
33. Lee, L. Y., W. A. Mohler, B. L. Schafer, J. S. Freudenberger, C. N. Byrne, K. B. Eager, S. T. Mosley, J. K. Leighton, R. N. Thrift, R. A. Davis, and R. D. Tanaka. 1989. Nucleotide sequence of the rat low density lipoprotein receptor cDNA. Nucleic Acids Res. 17: 1259-1260.
34. Mehta, K. D., W. J. Chen, J. L. Goldstein, and M. S. Brown. 1991. The low density lipoprotein receptor in Xenopus laevis. I. Five domains that resemble the human receptor. J. Biol. Chem. 266: 10406-10414.
35. Takahashi, S., Y. Kawarabayasi, T. Nakai, J. Sakai, and T. Yamamoto. 1992. Rabbit very low density lipoprotein receptor: a low density lipoprotein receptor-like protein with distinct ligand specificity. Proc. Natl. Acad. Sci. USA. 89: 9252-9256.
36. Kyte, J. and R. F. Doolittle. 1982. A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157: 105-132.
37. Goldstein, J. L., T. Kita, and M. S. Brown. 1983. Defective lipoprotein receptors and atherosclerosis. Lessons from an animal counterpart of familial hypercholesterolemia. N. Engl. J. Med. 309: 288-296.
38. Hobbs, H. H., E. Leitersdorf, C. C. Leffert, D. R. Cryer, M. S. Brown, and J. L. Goldstein. 1989. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J. Clin. Invest. 84: 656-664.
39. Vega, G. L., H. H. Hobbs, and S. L. Grundy. 1991. Low density lipoprotein kinetics in a family having defective low density lipoprotein receptors in which hypercholesterolemia is suppressed. Arterioscler. Thromb. 11: 578-585.
40. Gallati, S., I. Bonsall, N. Malik, V. Schneider, L. G. Kraemer, A. Ruedeberg, H. Moser, and R. Kraemer. 1992. Genotype/phenotype association in cystic fibrosis: analyses of the ΔF508, R553X, and 3905insT mutations. Pediatr. Res. 32: 175-178.
41. Lester, L. A., J. Kraut, J. Lloyd-Still, T. Karrison, C. Mott, C. Billstrand, A. Lemke, and C. Ober. 1994. Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population. Pediatrics. 93: 114-118.
42. Cheng, S. H., R. J. Gregory, J. Marshall, S. Paul, D. W. Souza, G. A. While, C. R. O'Riordan, and A. E. Smith. 1990. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell. 63: 827-834.
43. French, P. J., J. H. Doorninck, R. H. Peters, E. Verbeek, N. A. Ameen, C. R. Marino, H. R. Jonge, J. Bijman, and B. J. Scholte. 1996. A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. J. Clin. Invest. 98: 1304-1312.
44. Sato, S., C. L. Ward, J. E. Krouse, J. F. Wine, and R. R. Kopito. 1996. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J. Biol. Chem. 271: 635-638.