Molecular mechanisms of autosomal recessive hypercholesterolemia

Human Molecular Genetics

Volumn 11, Issue 24, 2002, Pages 3019-3030

  Wilund, Kenneth R ^a,b   Yi, Ming ^a   Campagna, Filomena ^c   Arca, Marcello ^c   Zuliani, Giovanni ^d   Fellin, Renato ^d   Ho, Yiu Kee ^b   Garcia, Victor J ^a   Hobbs, Helen H ^a   Cohen, Jonathan C ^a  

^a UNIVERSITY OF TEXAS AT DALLAS   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA PROTEIN; BINDING PROTEIN; CELL PROTEIN; IODINE 125; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; MUTANT PROTEIN; PHOSPHOTYROSINE; UNCLASSIFIED DRUG; ARH PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL SURFACE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FIBROBLAST CULTURE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HUMAN CELL; INTRON; LIPID DEGRADATION; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; LIVER; LIVER CELL; LYMPHOBLAST; LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SYNTHESIS; RECEPTOR BINDING; RETROPOSON; STOP CODON; VARIABLE NUMBER OF TANDEM REPEAT; GENETICS; HYPERCHOLESTEROLEMIA; IMMUNOBLOTTING; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RECESSIVE GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADAPTOR PROTEINS, VESICULAR TRANSPORT; BASE SEQUENCE; GENES, RECESSIVE; HUMANS; HYPERCHOLESTEROLEMIA; IMMUNOBLOTTING; LYMPHOCYTES; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0037112908     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.24.3019     Document Type: Article

References (39)

1. Goldstein, J., Hobbs, H. and Brown, M. (2001) Familial hypercholesterolemia. In Scriver, C., Beaudet, A., Sly, W. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 8th edn, Vol. II. McGraw Hill, New York, pp. 2863-2913.
2. Stone, N.J., Levy, R.I., Fredrickson, D.S. and Verter, J. (1974) Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation, 49, 476-488.
3. Goldstein, J.L. and Brown, M.S. (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J. Biol. Chem., 249, 5153-5162.
4. Myant, N.B. (1993) Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis, 104, 1-18.
5. Innerarity, T.L., Mahley, R.W., Weisgraber, K.H., Bersot, T.P., Krauss, R.M., Vega, G.L., Grundy, S.M., Friedl, W., Davignon, J. and McCarthy, B.J. (1990) Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid Res., 31, 1337-1349.
6. Myant, N., Gallagher, J., Knight, B., Frostegard, J., Nilsson, J., Hamsten, A., Talmud, P. and Humphries, S. (1991) Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function. Arterioscler. Thromb., 11, 691-703.
7. Bhattacharyya, A.K. and Connor, W.E. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J. Clin. Invest., 53, 1033-1043.
8. Berge, K.E., Tian, H., Graf, G.A., Yu, L., Grishin, N.V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R. and Hobbs, H.H. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science, 290, 1771-1775.
9. Zuliani, G., Arca, M., Signore, A., Bader, G., Fazio, S., Chianelli, M., Bellosta, S., Campagna, F., Montali, A., Maioli, M. et al. (1999) Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol., 19, 802-809.
10. Khachadurian, A.K. and Uthman, S.M. (1973) Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr. Metab., 15, 132-140.
11. Arca, M., Zuliani, G., Wilund, K., Campagna, F., Fellin, R., Bertolini, S., Calandra, S., Ricci, G., Glorioso, N., Maioli, M. et al. (2002) Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet, 359, 841-847.
12. Zuliani, G., Vigna, G.B., Corsini, A., Maioli, M., Romagnoni, F. and Fellin, R. (1995) Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. Eur. J. Clin. Invest., 25, 322-331.
13. Garcia, C.K., Wilund, K., Arca, M., Zuliani, G., Fellin, R., Maioli, M., Calandra, S., Bertolini, S., Cossu, F., Grishin, N. et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science, 292, 1394-1398.
14. Margolis, B., Borg, J.P., Straight, S. and Meyer, D. (1999) The function of PTB domain proteins. Kidney Int., 56, 1230-1237.
15. Chen, W.-J., Goldstein, J.L. and Brown, M.S. (1990) NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J. Biol. Chem., 265, 3116-3123.
16. Davis, C.G., Lehrman, M.A., Russell, D.W., Anderson, R.G.W., Brown, M.S. and Goldstein, J.L. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell, 45, 15-24.
17. Thanaraj, T.A. and Clark, F. (2001) Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions. Nucleic Acids Res., 29, 2581-2593.
18. Sirtori, C.R., Catapano, A.L., Franceschini, G., Corsini, A., Noseda, G., Fragiacomo, C., Panzeri, E., Vaccarino, V., Guenzi, S., Casari, G. et al. (1991) Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations. Eur. Heart J., 12, 818-824.
19. Jeffreys, A.J., Wilson, V. and Thein, S.L. (1985) Hypervariable 'mini-satellite' regions in human DNA. Nature, 314, 67-73.
20. Shen, L., Wu, L.C., Sanlioglu, S., Chen, R., Mendoza, A.R., Dangel, A.W., Carroll, M.C., Zipf, W.B. and Yu, C.Y. (1994) Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J. Biol. Chem., 269, 8466-8476.
21. Frischmeyer, P.A. and Dietz, H.C. (1999) Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet., 8, 1893-1900.
22. Kozak, M. (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell, 44, 283-292.
23. Hobbs, H.H., Leitersdorf, E., Leffert, C.C., Cryer, D.R., Brown, M.S. and Goldstein, J.L. (1989) Evidence for a dominant gene that supresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J. Clin. Invest., 84, 656-664.
24. Al-Kateb, H., Bahring, S., Hoffmann, K., Strauch, K., Busjahn, A., Nurnberg, G., Jouma, M., Bautz, E.K., Dresel, H.A. and Luft F.C. (2002) Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ. Res., 90, 951-958.
25. Hilleren, P. and Parker, R. (1999) Mechanisms of mRNA surveillance in eukaryotes. Annu. Rev. Genet., 33, 229-260.
26. Asselta, R., Duga, S., Spena, S., Santagostino, E., Peyvandi, F., Piseddu, G., Targhetta, R., Malcovati, M., Mannucci, P.M. and Tenchini, M.L. (2001) Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood, 98, 3685-3692.
27. Bitoun, E., Chavanas, S., Irvine, A.D., Lonie, L., Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S., Mitsuhashi, Y., Taieb, A. et al. (2002) Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J. Invest. Dermatol., 118, 352-361.
28. Watanabe, Y., Magor, K.E. and Parham, P. (2001) Exon 5 encoding the transmembrane region of HLA-A contains a transitional region for the induction of nonsense-mediated mRNA decay. J. Immunol., 167, 6901-6911.
29. Belgrader, P. and Maquat, L.E. (1994) Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol. Cell Biol., 14, 6326-6336.
30. Zhang, J., Sun, X., Qian, Y. and Maquat, L.E. (1998) Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm. RNA, 4, 801-815.
31. Zhang, J. and Maquat, L.E. (1997) Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J., 16, 826-833.
32. Hewitt, S.M., Fraizer, G.C. and Saunders, G.F. (1995) Transcriptional silencer of the Wilms' tumor gene WT1 contains an Alu repeat. J. Biol. Chem., 270, 17908-17912.
33. Brown, M.S. and Goldstein, J.L. (1986) A receptor-mediated pathway for cholesterol homeostasis. Science, 232, 34-47.
34. Norman, D., Sun, X.M., Bourbon, M., Knight, B.L., Naoumova, R.P and Soutar, A.K. (1999) Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. J. Clin. Invest., 104, 619-628.
35. Louie, L.G. and King, M.-C. (1991) A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cyropreserved lymphocytes. Am. J. Hum. Genet., 48, 637-646.
36. Goldstein, J.L., Basu, S.K. and Brown, M.S. (1983) Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol., 98, 241-260.
37. Ho, Y.K., Faust, J.R., Bilheimer, D.W., Brown, M.S. and Goldstein, J.L. (1977) Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. J. Exp. Med., 145, 1531-1549.
38. Hopkins, C.R. and Trowbridge, I.S. (1983) Internalization and processing of transferrin and the transferrin receptor in human carcinoma A431 cells. J. Cell Biol., 97, 508-521.
39. Buchegger, F., Trowbridge, I.S., Liu, L.F., White, S. and Collawn, J.F. (1996) Functional analysis of human/chicken transferrin receptor chimeras indicates that the carboxy-terminal region is important for ligand binding. Eur. J. Biochem., 235, 9-17.