Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1

Human Molecular Genetics

Volumn 21, Issue 13, 2012, Pages 2961-2972

  Gin, Peter ^a   Goulbourne, Chris N ^a   Adeyo, Oludotun ^a   Beigneux, Anne P ^a   Davies, Brandon S J ^a   Tat, Shelly ^a   Voss, Constance V ^a   Bensadoun, André ^b   Fong, Loren G ^a   Young, Stephen G ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Department of Obstetrics Gynecology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; HOMODIMER; LIPOPROTEIN LIPASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CONTROLLED STUDY; ENDOTHELIUM CELL; GENE DELETION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN DOMAIN;

AMINO ACID SUBSTITUTION; ANIMALS; CARRIER PROTEINS; CHO CELLS; CHYLOMICRONS; CRICETINAE; ENDOTHELIAL CELLS; FURIN; LIPOPROTEIN LIPASE; MUTATION, MISSENSE; PEPTIDES; PROTEIN BINDING;

EID: 84863505457     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds127     Document Type: Article

References (24)

1. Davies, B.S.J., Beigneux, A.P., Barnes, R.H. II, Tu, Y., Gin, P., Weinstein, M.M., Nobumori, C., Nyrén, R., Goldberg, I.J., Olivecrona, G. et al. (2010) GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries. Cell Metab., 12, 42-52.
2. Beigneux, A.P., Davies, B., Gin, P., Weinstein, M.M., Farber, E., Qiao, X., Peale, P., Bunting, S., Walzem, R.L., Wong, J.S. et al. (2007) Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab., 5, 279-291.
3. Ioka, R.X., Kang, M.-J., Kamiyama, S., Kim, D.-H., Magoori, K., Kamataki, A., Ito, Y., Takei, Y.A., Sasaki, M., Suzuki, T. et al. (2003) Expression cloning and characterization of a novel glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein, GPI-HBP1. J. Biol. Chem., 278, 7344-7349.
4. Young, S.G., Davies, B.S., Voss, C.V., Gin, P., Weinstein, M.M., Tontonoz, P., Reue, K., Bensadoun, A., Fong, L.G. and Beigneux, A.P. (2011) GPIHBP1, an endothelial cell transporter for lipoprotein lipase. J. Lipid Res., 52, 1869-1884.
5. Beigneux, A.P., Davies, B.S., Tat, S., Chen, J., Gin, P., Voss, C.V., Weinstein, M.M., Bensadoun, A., Pullinger, C.R., Fong, L.G. et al. (2011) Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase. J. Biol. Chem., 286, 19735-19743.
6. Beigneux, A.P., Gin, P., Davies, B.S.J., Weinstein, M.M., Bensadoun, A., Fong, L.G. and Young, S.G. (2009) Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase. J. Biol. Chem., 284, 30240-30247.
7. Gin, P., Yin, L., Davies, B.S., Weinstein, M.M., Ryan, R.O., Bensadoun, A., Fong, L.G., Young, S.G. and Beigneux, A.P. (2008) The acidic domain of GPIHBP1 is important for the binding of lipoprotein lipase and chylomicrons. J. Biol. Chem., 284, 29554-29562.
8. Wong, H., Davis, R.C., Thuren, T., Goers, J.W., Nikazy, J., Waite, M. and Schotz, M.C. (1994) Lipoprotein lipase domain function. J. Biol. Chem., 269, 10319-10323.
9. Wong, H. and Schotz, M.C. (2002) The lipase gene family. J. Lipid Res., 43, 993-999.
10. Lookene, A., Groot, N.B., Kastelein, J.J., Olivecrona, G. and Bruin, T. (1997) Mutation of tryptophan residues in lipoprotein lipase. Effects on stability, immunoreactivity, and catalytic properties. J. Biol. Chem., 272, 766-772.
11. Kobayashi, Y., Nakajima, T. and Inoue, I. (2002) Molecular modeling of the dimeric structure of human lipoprotein lipase and functional studies of the carboxyl-terminal domain. Eur. J. Biochem., 269, 4701-4710.
12. Zhang, L., Lookene, A., Wu, G. and Olivecrona, G. (2005) Calcium triggers folding of lipoprotein lipase into active dimers. J. Biol. Chem., 280, 42580-42591.
13. Sukonina, V., Lookene, A., Olivecrona, T. and Olivecrona, G. (2006) Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue. Proc. Natl Acad. Sci. USA, 103, 17450-17455.
14. Voss, C.V., Davies, B.S., Tat, S., Gin, P., Fong, L.G., Pelletier, C., Mottler, C.D., Bensadoun, A., Beigneux, A.P. and Young, S.G. (2011) Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1. Proc. Natl Acad. Sci. USA, 108, 7980-7984.
15. Wong, H., Yang, D., Hill, J.S., Davis, R.C., Nikazy, J. and Schotz, M.C. (1997) A molecular biology-based approach to resolve the subunit orientation of lipoprotein lipase. Proc. Natl Acad. Sci. USA, 94, 5594- 5598.
16. Gin, P., Beigneux, A.P., Voss, C., Davies, B.S., Beckstead, J.A., Ryan, R.O., Bensadoun, A., Fong, L.G. and Young, S.G. (2011) Binding preferences for GPIHBP1, a glycosylphosphatidylinositol-anchored protein of capillary endothelial cells. Arterioscler. Thromb. Vasc. Biol., 31, 176-182.
17. Previato, L., Guardamagna, O., Dugi, K.A., Ronan, R., Talley, G.D., Santamarina-Fojo, S. and Brewer, H.B. Jr. (1994) A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-.Val) leads to enzyme inactivation and familial chylomicronemia. J. Lipid Res., 35, 1552-1560.
18. Ginzinger, D.G., Lewis, M.E., Ma, Y., Jones, B.R., Liu, G. and Jones, S.D. (1996) A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats. J. Clin. Invest., 97, 1257-1266.
19. Sendak, R.A., Melford, K., Kao, A. and Bensadoun, A. (1998) Identification of the epitope of a monoclonal antibody that inhibits heparin binding of lipoprotein lipase: new evidence for a carboxyl-terminal heparin-binding domain. J. Lipid Res., 39, 633-646.
20. Jin, W., Fuki, I.V., Seidah, N.G., Benjannet, S., Glick, J.M. and Rader, D.J. (2005) Proprotein convertases [corrected] are responsible for proteolysis and inactivation of endothelial lipase. J. Biol. Chem., 280, 36551-36559.
21. Liu, J., Afroza, H., Rader, D.J. and Jin, W. (2010) Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases. J. Biol. Chem., 285, 27561-27570.
22. Chang, S.-F., Reich, B., Brunzell, J.D. and Will, H. (1998) Detailed characterization of the binding site of the lipoprotein lipase-specific monoclonal antibody 5D2. J. Lipid Res., 39, 2350-2359.
23. Kobayashi, J., Inadera, H., Fujita, Y., Talley, G., Morisaki, N., Yoshida, S., Saito, Y., Fojo, S.S. and Brewer, H.B. Jr (1994) A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion. Biochem. Biophys. Res. Commun., 205, 506-515.
24. Hayden, M.R., Ma, Y., Brunzell, J. and Henderson, H.E. (1991) Genetic variants affecting human lipoprotein and hepatic lipases. Curr. Opin. Lipidol., 2, 104-109.