Known mutations of apoB account for only a small minority of hypobetalipoproteinemia

Journal of Lipid Research

Volumn 40, Issue 5, 1999, Pages 955-959

  Wu, Jingshi ^a   Kim, Jeongho ^a   Li, Qun ^a   Kwok, Pui Yan ^a   Cole, Thomas G ^a   Cefalu, Baldassare ^a   Averna, Maurizio ^a   Schonfeld, Gustav ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ApoB gene mutation; ApoB truncation; Familial hypobetalipoproteinemia; Low cholesterol

Indexed keywords

APOLIPOPROTEIN B;

ARTICLE; FAMILIAL DISEASE; GENE MUTATION; HUMAN; HYPOBETALIPOPROTEINEMIA; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

EID: 0032898617     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Farese, R. V., M. F. Linton, and S. G. Young. 1992. Apolipoprotein-B gene mutations affecting cholesterol levels. J. Int. Med. 231: 643-652.
2. Havel, R. J., and J. P. Kane. 1995. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. The Metabolic Basis of Inherited Disease. Ed. 7. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Co., New York. 1853-1886.
3. Schonfeld, G. 1995. The hypobetalipoproteinemias. (Review) Annu. Rev. Nut. 15: 23-34.
4. Groenewegen, W. A., E. S. Krul, M. R. Averna, J. Pulai, and G. Schonfeld. 1994. Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2). Arterioscler. Thromb. 14: 1695-1704.
5. Talmud, P. J., E. S. Krul, M. Pessah, G. Gay, G. Schonfeld, S. E. Humphries, and R. Infante. 1994. Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia. J. Lipid Res. 35: 468-477.
6. Welty, F. K., J. Ordovas, E. J. Schaefer, P. W. F. Wilson, and S. G. Young. 1995. Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels. Circulation. 92: 2036-2040.
7. Havel, R. J., and J. P. Kane. 1995. Structure and metabolism of plasma lipoproteins. In The Metabolic Basis of Inherited Disease. Ed. 7. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Co., New York. 1841-1852.
8. Collins, D. R., T. J. Knott, R. J. Pease, L. M. Powell, S. C. Wallis, S. Robertson, C. R. Pullinger, R. W. Milne, Y. L. Marcel, S. E. Humphries, P. J. Talmud, J. K. Lloyd, N. E. Miller, D. Muller, and J. Scott. 1988. Truncated variants of apolipoprotein B cause hypobetalipoproteinemia. Nucleic Acids Res. 16:8361-8377.
9. Krul, E. S., J. J. Tang, T. S. Kettler, R. E. Clouse, and G. Schonfeld. 1992. Lengths of truncated forms of apolipoprotein B (APOB) determine their intestinal production. Biochem. Biophys. Res. Commun. 189: 1069-1076.
10. Krul, E. S., K. G. Parhofer, P. H. R. Barrett, R. D. Wagner, and G. Schonfeld. 1992. ApoB-75, a truncation of apolipoprotein B assocciated with familial hypobetalipoproteinemia: genetic and kinetic studies. J. Lipid Res. 33: 1037-1050.
11. Welty, F. K., A. H. Lichtenstein, P. H. R. Barrett, G. G. Dolnikowski, J. M. Ordovas, and E. J. Schaefer. 1997. Decreased production and increased catabolism of apolipoprotein B-100 in apolipoprotein B-67/B-100 heterozygotes. Arterioscler. Thromb. Vasc. Biol. 17: 881-888.
12. Parhofer, K. G., P. H. R. Barrett, C. A. Aguilar-Salinas, and G. Schonfeld. 1996. Positive linear correlation between the length of truncated apolipoprotein B and its secretion rate: in vivo studies in human apoB-89, apoB-75, apoB-54.8, and apoB-31 heterozygotes. J. Lipid Res. 37: 844-852.
13. Aguilar-Salinas, C. A., P. H. R. Barrett, K. G. Parhofer, S. G. Young, D. Tessereau, J. Bateman, C. Quinn, and G. Schonfeld. 1995. Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B. Arterioscler. Thromb. Vasc. Biol. 15: 71-80.
14. Parhofer, K. G., P. H. R. Barrett, D. M. Bier, and G. Schonfeld. 1992. Lipoproteins containing the truncated apolipoprotein, apoB-89, are cleared from human plasma more rapidly than apoB-100-containing lipoproteins in vivo. J. Clin. Invest. 89: 1931-1937.
15. Zhu, X. F., D. Noto, R. Seip, A. Shaish, and G. Schonfeld. 1997. Organ loci of catabolism of short truncations of apoB. Arterioscler. Thromb. Vasc. Biol. 17: 1032-1038.
16. Krul, E. S., M. Kinoshita, P. Talmud, S. E. Humphries, S. Turner, A. C. Goldberg, K. Cook, E. Boerwinkle, and G. Schonfeld. 1989. Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. Arteriosclerosis. 9: 856-868.
17. Pulai, J. I., R. J. Neuman, A. W. Groenewegen, J. Wu, and G. Schonfeld. 1998. Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. Am. J. Mes. Genet. 76: 79-86.
18. Pulai, J. I., Z. Hamideh, P.Y. Kwok, J. H. Kim, J. Wu, and G. Schonfeld. 1998. Donor splice mutation (665+1 G-T) in familial hypobetalipoproteinemia with no detectable apoB truncation. Am. J. Med. Genet. 80: 218-220.
19. Huang, L. S., H. Kayden, R. J. Sokol, and J. L. Breslow. 1991. ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J. Lipid Res. 32: 1341-1348.
20. Huang, L. S., M. E. Ripps, S. H. Korman, R. Deckelbaum, and J. L. Breslow. 1989. Hypobetalipoproteinemia due to an an apolipoprotein B gene exon 21 deletion derived by alu-alu recombination. J. Biol. Chem. 264: 1394-1400.
21. Pulai, J. I., M. A. Latour, P. I. Kwok, and G. Schonfeld. 1998. Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). Atherosclerosis. 136: 289-295.
22. Talmud, P. J., C. Converse, E. Krul, L. Huq, G. G. McIlwaine, J. J. Series, P. Boyd, G. Schonfeld, A. Dunning, and A. Humphries. 1992. A novel truncated apolipoprotein B (apoB55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. Clin. Genet. 42: 62-70.
23. Lipid Research Clinics Population Studies Data Book. 1980. The Prevalence Study. Vol. 1 (NIH) 80-1527.
24. Contois, J. H., J. R. McNamara, C. J. Lammi-Keefe, P. W. F. Wilson, T. Massov, and E. J. Schaefer. 1996. Reference intervals for plasma apolipoprotein B determined with a standardized commercial immunoturbidimetric assay: results from the Framingham Offspring Study. Clin. Chem. 42: 515-523.
25. Krul, E. S., Y. Kleinman, M. Kinoshita, B. Pfleger, K. Oida, A. Law, J. Scott, R. Pease, and G. Schonfeld. 1988. Regional specificities of monoclonal anti-human apolipoprotein B antibodies. J. Lipid Res. 29:937-948.
26. Blackhart, B. D., Z-M. Yao, and B. J. McCarthy. 1990. An expression system for human apolipoprotein B100 in a rat hepatoma cell line. J. Biol. Chem. 265: 8358-8360.
27. Wu, J., J. Ellison, E. Salido, P. Yen, and L. J. Shapiro. 1994. Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Hum. Mol. Genet. 64: 34-42.
28. Liu, W. G., C. P. Qian, and U. Francke. 1997. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat. Genet. 16: 328-329.