Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice

Journal of Lipid Research

Volumn 50, Issue 3, 2009, Pages 534-545

  Juan, Todd ^a   Véniant, Murielle M ^a   Helmering, Joan ^a   Babij, Philip ^a   Baker, Daniel M ^a   Damore, Michael A ^a   Bass, Michael B ^a   Gyuris, Tibor ^a   Chhoa, Mark ^a   Li, Chi Ming ^a   Ebeling, Chris ^b   Amato, Julie ^b   Carlson, George A ^b   Lloyd, David J ^a  

^a AMGEN INC   (United States)

^b MCLAUGHLIN RESEARCH INSTITUTE   (United States)

Author keywords

ATP binding cassette transporter A1; Hypercholesterolemia; Mutagenesis

Indexed keywords

ABC TRANSPORTER A1; CCAAT ENHANCER BINDING PROTEIN ALPHA; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; ABC TRANSPORTER; DNA; ETHYLNITROSOUREA; MUTAGENIC AGENT;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 3; CHROMOSOME 4; CHROMOSOME 7; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC SCREENING; HYPERCHOLESTEROLEMIA; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL; ANIMAL; BLOOD; C57BL MOUSE; CHROMOSOME MAP; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; MOUSE MUTANT; MUTAGENESIS; MUTATION; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CCAAT-ENHANCER-BINDING PROTEIN-ALPHA; CHOLESTEROL; CHOLESTEROL, HDL; CHROMOSOME MAPPING; DNA; ETHYLNITROSOUREA; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; HYPERLIPOPROTEINEMIA TYPE II; MALE; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MUTAGENESIS; MUTAGENS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 64349112542     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M800471-JLR200     Document Type: Article

References (45)

1. Rader, D. J., and A. Daugherty. 2008. Translating molecular discoveries into new therapies for atherosclerosis. Nature. 451: 904-913.
2. Libby, P. 2001. Managing the risk of atherosclerosis: the role of high-density lipoprotein. Am. J. Cardiol. 88: 3N-8N.
3. Ohashi, R., H. Mu, X. Wang, Q. Yao, and C. Chen. 2005. Reverse cholesterol transport and cholesterol efflux in atherosclerosis. QJM. 98: 845-856.
4. Castelli, W. P., R. J. Garrison, P. W. Wilson, R. D. Abbott, S. Kalousdian, and W. B. Kannel. 1986. Incidence of coronary heart disease and lipoprotein cholesterol levels. The Framingham Study. J. Am. Med. Assoc. 256: 2835-2838.
5. Badimon, J. J., L. Badimon, and V. Fuster. 1990. Regression of atherosclerotic lesions by high density lipoprotein plasma fraction in the cholesterol-fed rabbit. J. Clin. Invest. 85: 1234-1241.
6. deGoma, E. M., R. L. deGoma, and D. J. Rader. 2008. Beyond highdensity lipoprotein cholesterol levels evaluating high-density lipoprotein function as influenced by novel therapeutic approaches. J. Am. Coll. Cardiol. 51: 2199-2211.
7. Young, S. G., and C. J. Fielding. 1999. The ABCs of cholesterol efflux. Nat. Genet. 22: 316-318.
8. Schamaun, O., B. Olaisen, T. Gedde-Dahl, Jr., and P. Teisberg. 1983. Genetic studies of an apoA-I lipoprotein variant. Hum. Genet. 64: 380-383.
9. Akita, H., H. Chiba, K. Tsuchihashi, M. Tsuji, M. Kumagai, K. Matsuno, and K. Kobayashi. 1994. Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma highdensity lipoprotein cholesterol content. J. Clin. Endocrinol. Metab. 79: 1615-1618.
10. Breckenridge, W. C., J. A. Little, P. Alaupovic, C. S. Wang, A. Kuksis, G. Kakis, F. Lindgren, and G. Gardiner. 1982. Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis. 45: 161-179.
11. Henderson, H. E., Y. Ma, M. F. Hassan, M. V. Monsalve, A. D. Marais, F. Winkler, K. Gubernator, J. Peterson, J. D. Brunzell, and M. R. Hayden. 1991. Amino acid substitution (Ile194 - Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. J. Clin. Invest. 87: 2005-2011.
12. Gotoda, T., N. Yamada, T. Murase, M. Sakuma, N. Murayama, H. Shimano, K. Kozaki, J. J. Albers, Y. Yazaki, and Y. Akanuma. 1991. Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. Lancet. 338: 778-781.
13. Wang, X., and B. Paigen. 2005. Genetics of variation in HDL cholesterol in humans and mice. Circ. Res. 96: 27-42.
14. Rigotti, A., B. L. Trigatti, M. Penman, H. Rayburn, J. Herz, and M. Krieger. 1997. A targeted mutation in the murine gene encoding the high density lipoprotein (HDL) receptor scavenger receptor class B type I reveals its key role in HDL metabolism. Proc. Natl. Acad. Sci. USA. 94: 12610-12615.
15. Kathiresan, S., O. Melander, C. Guiducci, A. Surti, N. P. Burtt, M. J. Rieder, G. M. Cooper, C. Roos, B. F. Voight, A. S. Havulinna, et al. 2008. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat. Genet. 40: 189-197.
16. Willer, C. J., S. Sanna, A. U. Jackson, A. Scuteri, L. L. Bonnycastle, R. Clarke, S. C. Heath, N. J. Timpson, S. S. Najjar, H. M. Stringham, et al. 2008. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40: 161-169.
17. Lusis, A. J., and P. Pajukanta. 2008. A treasure trove for lipoprotein biology. Nat. Genet. 40: 129-130.
18. Chen, Y., J. Rollins, B. Paigen, and X. Wang. 2007. Genetic and genomic insights into the molecular basis of atherosclerosis. Cell Metab. 6: 164-179.
19. Mamontova, A., S. Seguret-Mace, B. Esposito, C. Chaniale, M. Bouly, N. Delhaye-Bouchaud, G. Luc, B. Staels, N. Duverger, J. Mariani, et al. 1998. Severe atherosclerosis and hypoalphalipoproteinemia in the staggerer mouse, a mutant of the nuclear receptor RORalpha. Circulation. 98: 2738-2743.
20. Meiner, V. L., C. L. Welch, S. Cases, H. M. Myers, E. Sande, A. J. Lusis, and R. V. Farese, Jr. 1998. Adrenocortical lipid depletion gene (ald) in AKR mice is associated with an acyl-CoA:cholesterol acyltransferase (ACAT) mutation. J. Biol. Chem. 273: 1064-1069.
21. Cordes, S. P. 2005. N-ethyl-N-nitrosourea mutagenesis: boarding the mouse mutant express. Microbiol. Mol. Biol. Rev. 69: 426-439.
22. Barbaric, I., S. Wells, A. Russ, and T. N. Dear. 2007. Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse. Environ. Mol. Mutagen. 48: 124-142.
23. Shedlovsky, A., J. L. Guenet, L. L. Johnson, and W. F. Dove. 1986. Induction of recessive lethal mutations in the T/t-H-2 region of the mouse genome by a point mutagen. Genet. Res. 47: 135-142.
24. Moran, J. L., A. D. Bolton, P. V. Tran, A. Brown, N. D. Dwyer, D. K. Manning, B. C. Bjork, C. Li, K. Montgomery, S. M. Siepka, et al. 2006. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 16: 436-440.
25. Kutner, M., C. J. Nachtsheim, J. Neter, and W. Li. 2005. Applied Linear Statistical Models. 5th edition. McGraw-Hill/Irwin, New York.
26. Kumar, R., D. McClain, R. Young, and G. A. Carlson. 2008. Cholesterol transporter ATP-binding cassette A1 (ABCA1) is elevated in prion disease and affects PrPC and PrPSc concentrations in cultured cells. J. Gen. Virol. 89: 1525-1532.
27. Aigner, B., B. Rathkolb, M. Mohr, M. Klempt, M. Hrabe de Angelis, and E. Wolf. 2007. Generation of ENU-induced mouse mutants with hypocholesterolemia: novel tools for dissecting plasma lipoprotein homeostasis. Lipids. 42: 731-737.
28. Hough, T. A., P. M. Nolan, V. Tsipouri, A. A. Toye, I. C. Gray, M. Goldsworthy, L. Moir, R. D. Cox, S. Clements, P. H. Glenister, et al. 2002. Novel phenotypes identified by plasma biochemical screening in the mouse. Mamm. Genome. 13: 595-602.
29. Wiltshire, T., M. T. Pletcher, S. Batalov, S.W. Barnes, L. M. Tarantino, M. P. Cooke, H. Wu, K. Smylie, A. Santrosyan, N. G. Copeland, et al. 2003. Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse. Proc. Natl. Acad. Sci. USA. 100: 3380-3385.
30. Mohr, M., M. Klempt, B. Rathkolb, M. H. de Angelis, E. Wolf, and B. Aigner. 2004. Hypercholesterolemia in ENU-induced mouse mutants. J. Lipid Res. 45: 2132-2137.
31. Wittenburg, H., M. A. Lyons, R. Li, U. Kurtz, X. Wang, J. Mossner, G. A. Churchill, M. C. Carey, and B. Paigen. 2006. QTL mapping for genetic determinants of lipoprotein cholesterol levels in combined crosses of inbred mouse strains. J. Lipid Res. 47: 1780-1790.
32. Wang, S. S., W. Shi, X. Wang, L. Velky, S. Greenlee, M. T. Wang, T. A. Drake, and A. J. Lusis. 2007. Mapping, genetic isolation, and characterization of genetic loci that determine resistance to atherosclerosis in C3H mice. Arterioscler. Thromb. Vasc. Biol. 27: 2671-2676.
33. Tsuruoka, H., W. Khovidhunkit, B. E. Brown, J. W. Fluhr, P. M. Elias, and K. R. Feingold. 2002. Scavenger receptor class B type I is expressed in cultured keratinocytes and epidermis. Regulation in response to changes in cholesterol homeostasis and barrier requirements. J. Biol. Chem. 277: 2916-2922.
34. Jin, W., J. S. Millar, U. Broedl, J. M. Glick, and D. J. Rader. 2003. Inhibition of endothelial lipase causes increased HDL cholesterol levels in vivo. J. Clin. Invest. 111: 357-362.
35. Christiansen-Weber, T. A., J. R. Voland, Y. Wu, K. Ngo, B. L. Roland, S. Nguyen, P. A. Peterson, and W. P. Fung-Leung. 2000. Functional loss of ABCA1 in mice causes severe placental malformation, aberrant lipid distribution, and kidney glomerulonephritis as well as high-density lipoprotein cholesterol deficiency. Am. J. Pathol. 157: 1017-1029.
36. McNeish, J., R. J. Aiello, D. Guyot, T. Turi, C. Gabel, C. Aldinger, K. L. Hoppe, M. L. Roach, L. J. Royer, J. de Wet, et al. 2000. High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1. Proc. Natl. Acad. Sci. USA. 97: 4245-4250.
37. Orso, E., C. Broccardo, W. E. Kaminski, A. Bottcher, G. Liebisch, W. Drobnik, A. Gotz, O. Chambenoit, W. Diederich, T. Langmann, et al. 2000. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat. Genet. 24: 192-196.
38. Vashist, S., and D. T. Ng. 2004. Misfolded proteins are sorted by a sequential checkpoint mechanism of ER quality control. J. Cell Biol. 165: 41-52.
39. Brunham, L. R., R. R. Singaraja, and M. R. Hayden. 2006. Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu. Rev. Nutr. 26: 105-129.
40. Rosen, E. D. 2002. The molecular control of adipogenesis, with special reference to lymphatic pathology. Ann. N. Y. Acad. Sci. 979: 143-158.
41. Nerlov, C. 2004. C/EBPalpha mutations in acute myeloid leukaemias. Nat. Rev. Cancer. 4: 394-400.
42. Wang, N. D., M. J. Finegold, A. Bradley, C. N. Ou, S. V. Abdelsayed, M. D. Wilde, L. R. Taylor, D. R. Wilson, and G. J. Darlington. 1995. Impaired energy homeostasis in C/EBP alpha knockout mice. Science. 269: 1108-1112.
43. Inoue, Y., J. Inoue, G. Lambert, S. H. Yim, and F. J. Gonzalez. 2004. Disruption of hepatic C/EBPalpha results in impaired glucose tolerance and age-dependent hepatosteatosis. J. Biol. Chem. 279: 4440-44748.
44. Yang, J., C. M. Croniger, J. Lekstrom-Himes, P. Zhang, M. Fenyus, D. G. Tenen, G. J. Darlington, and R. W. Hanson. 2005. Metabolic response of mice to a postnatal ablation of CCAAT/enhancer-binding protein alpha. J. Biol. Chem. 280: 38689-38699.
45. Olofsson, L. E., M. Orho-Melander, L. William-Olsson, K. Sjoholm, L. Sjostrom, L. Groop, B. Carlsson, L. M. Carlsson, and B. Olsson. 2008. CCAAT/enhancer binding protein alpha (C/EBPalpha) in adipose tissue regulates genes in lipid and glucose metabolism and a genetic variation in C/EBPalpha is associated with serum levels of triglycerides. J. Clin. Endocrinol. Metab. 93: 4880-4886.