New functional promoter polymorphism, CETP/-629, in cholesteryl ester transfer protein (CETP) gene related to CETP mass and high density lipoprotein cholesterol levels: Role of Sp1/Sp3 in transcriptional regulation

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 20, Issue 2, 2000, Pages 507-515

  Dachet, Christiane ^a,b   Poirier, Odette ^b   Cambien, François ^b   Chapman, John ^a   Rouis, Mustapha ^a  

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cardiovascular disease; Cholesteryl ester transfer protein; ECTIM; Gene polymorphisms; Transcription factors

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LUCIFERASE;

ADULT; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; ELECTROPHORETIC MOBILITY; ENZYME ACTIVITY; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HEART INFARCTION; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA INTERACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSCRIPTION REGULATION;

EID: 0033951707     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.20.2.507     Document Type: Article

References (57)

1. Gordon DJ, Rifkind BM. High density lipoprotein: the clinical implications of recent studies. N Engl J Med. 1989;321:1311-1316.
2. Tall AR. Plasma cholesteryl ester transfer protein. J Lipid Res. 1993;34: 1255-1274.
3. Bruce C, Tall AR. Cholesteryl ester transfer protein, reverse cholesterol transport and atherosclerosis. Curr Opin Lipidol. 1995;6:306-311.
4. Inazu A, Brown ML, Hesler CB, Agellon LB, Koizumi J, Takata K, Maruhama Y, Mabuchi H, Tall AR. Increased high density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. N Engl J Med. 1990;323:1234-1238.
5. Bathnagar D, Durrington PN, Channon KN, Prais H, Mackness MI. Increased transfer of cholesteryl esters from high density lipoproteins to low density and very low density lipoproteins in patients with angiographic evidence of coronary artery disease. Atherosclerosis. 1993;98: 25-32.
6. Guérin M, Bruckert E, Dolphin PJ, Chapman MJ. Absence of cholesteryl ester transfer protein-mediated cholesteryl ester mass transfer from high-density lipoprotein to low-density lipoprotein particles is a major feature of combined hyperlipidemia. Eur J Invest. 1996;26:485-494.
7. Drayna D, Lawn R, Multiple RFLPs at the cholesteryl ester transfer protein (CETP) locus. Nucleic Acids Res. 1987;15:4698.
8. Zuliani G, Hobbs HH. EcoNI polymorphism in the human cholesteryl ester transfer protein (CETP) gene. Nucleic Acids Res. 1990;18:2834.
9. Funke H, Wiebusch H, Fuer L, Muntoni S, Schulte H, Assmann G. Identification of mutations in the cholesteryl ester transfer protein in Europeans with elevated high density lipoprotein cholesterol. Circulation. 1994;90:1241.
10. Fumeron F, Betoulle D, Luc G, Behague I, Richard S, Poirier O, Jemaa R, Avans A, Alveiler D, Marques-vidal P, Bard JM, Fruchard JC, Ducimetière P, Apfelbaum M, Cambien F. Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein on plasma high density lipoprotein and the risk of myocardial infarction. J Clin Invest. 1995;96:1664-1671.
11. Kuivenhoven JA, De Knijff P, Boer JMA, Smalheer HA, Botma GJ, Seidell JC, Kastelein JP, Pritchard PH. Heterogeneity at the CETP gene locus: influence on plasma CETP concentrations and HDL cholesterol levels. Arterioscler Thromb Vasc Biol. 1997;17:560-568.
12. Gudnasson V, Thormar K, Humphries SE. Interaction of the cholesteryl ester transfer protein 1405V polymorphism with alcohol consumption in smoking and non-smoking healthy men, and the effect on plasma HDL cholesterol and apo AI concentration. Clin Genet. 1997;51:15-21.
13. Bernard S, Moulin P, Lagrost L, Picard S, Elchebly M, Ponsin G, Chapuis F, Berthezene F, Association between plasma HDL-cholesterol concentration and TaqIB CETP gene polymorphism in non-insulin-dependent diabetes mellitus. J Lipid Res. 1998;39:59-65.
14. Mendis S, Shephered J, Packard CJ, Gaffney D. Genetic variation in the cholesteryl ester transfer protein and apolipoprotein A-I genes and its relation to coronary heart disease in a Sri Lankan population. Atherosclerosis. 1990;83:21-27.
15. Freeman DJ, Bruce AG, Holmes AP, Lindsay GM, Gaffney D, Packard CJ, Shephered J, Regulation of plasma HDL cholesterol and subfraction distribution by genetic and environmental factors: association between the TaqIB RFLP in the CETP gene and smoking and obesity. Arterioscler Thromb. 1994;14:336-344.
16. Hannuksela ML, Liinamaa MJ, Kesaniemi YA, Savolainen MJ. Relationship of polymorphism in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers. Atherosclerosis. 1994;110:35-44.
17. Bruce C, Sharp DS, Tall AR. Relationship of HDL and coronary heart disease to a common amino acid polymorphism in the cholesteryl ester transfer protein in men with and without hypertriglyceridemia. J Lipid Res. 1998;39:1071-1078.
18. Guérin M, Dolphin PJ, Talussot C, Gardette J, Berthezene F, Chapman MJ. Pravastatin modulates cholesteryl ester transfer from HDL to apoB-containing lipoproteins and lipoprotein subspecies profile in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1995;15: 1359-1368.
19. Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME, Marcel YL, Milne RW, Koizumi J, Mahuchi H, Takeda R, Tall AR. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature. 1989;342:448-451.
20. Inazu A, Jiang X, Araki T, Yagi K, Kamon N, Koizumi J, Mabuchi H, Takeda R, Moriyama Y, Doi M, Tall AR. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin Invest. 1994;94:1872-1882.
21. Sakai N, Santamarina-Fojo S, Yamashita S, Matsuzawa Y, Brewer HB. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice selection. J Lipid Res. 1996;37:2065-2073.
22. Ritsch A, Drexel H, Amann FW, Pfeifhofer C, Patsch JR. Deficiency of cholesteryl ester transfer protein: description of the molecular defect and the dissociation of cholesteryl ester and triglyceride transport in plasma. Arterioscler Thromb Vasc Biol. 1997;17:3433-3441.
23. Arai T, Yamashita S, Sakai N, Hirano K, Okada S, Ishigami M, Maruyama T, Yamane M, Kobayashi H, Nozaki S, Funahashi T, Kameda-Takemura K, Nakajima N, Matsuzawa Y. A novel nonsense mutation (G181X) in the human cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects. J Lipid Res. 1996;37:2145-2154.
24. Teh EM, Dolphin PJ, Breckenridge WC, Tan M. Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a Caucasian subject from North America. J Lipid Res. 1998;39: 442-456.
25. Gotoda T, Kinoshita M, Shimano H, Harada K, Shimada M, Ohsuga J, Teramoto T, Yazaki Y, Yamada N. Cholesteryl ester transfer protein deficiency caused by a nonsense mutation detected in the patient's macrophage mRNA. Biochem Biophys Res Commun. 1993;194:519-524.
26. Takahashi K, Jiang XC, Sakai N, Yamashita S, Hirano K, Bujo H, Yamazaki H, Kusunoki J, Mima T, Kussie P, Matsuzawa Y, Saito Y, Tall AR. A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. J Clin Invest. 1993;92:2060-2064.
27. Corbex M, Poirier O, Fumeron F, Betoulle D, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L, Cambien F. An extensive association analysis between the CETP gene and coronary heart disease phenotypes reveals several putative functional polymorphisms and gene-environment interaction. Genet Epidemiol. In press.
28. Parra HJ, Arveiler D, Evans AE, Cambou JP, Amouyel P, Bingham A, McMaster D, Schaffer P, Douste-Blazy P, Luc G, Richard JL, Ducimetière P, Fruchart JC, Cambien F. A case control study of lipoprotein particles in two populations at contrasting risk for CHD, the ECTIM Study. Arterioscler Thromb. 1992;12:701-707.
29. Mezdour H, Kora I, Parra HJ, Tartar A, Marcel YL, Fruchart JC. Two-site enzyme immunoassay of cholesteryl ester transfer protein with monoclonal and polyclonal antibodies. Clin Chem. 1994;40:593-597.
30. Oliveira HF, Choinard RA, Agellon LB, Bruce C, Ma L, Walsh A, Breslow JL, Tall AR. Human cholesteryl ester transfer protein gene proximal promoter contains dietary cholesterol positive responsive elements and mediates expression in small intestine and periphery while predominant liver and spleen expression is controlled by 5′-distal sequences: cis-acting sequences mapped in transgenic mice. J Biol Chem. 1996;271:31831-31838.
31. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74:5463-5467.
32. Agellon LB, Zhang P, Jiang XC, Mendelsohn L, Tall AR. The CCAAT/ enhancer-binding protein trans-activates the human cholesteryl ester transfer protein gene promoter. J Biol Chem. 1992;267:22336-22339.
33. Di Lella A, Huang W, Woo S. Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet. 1988; 8584:497-499.
34. Gaudet F, Ginsburg GS. Transcriptional regulation of the cholesteryl ester transfer protein gene by the orphan nuclear hormone receptor apoliporotein AI regulatory protein-1. J Biol Chem. 1995;270:29916-29922.
35. Dignam JD, Lebovitz RM, Roeder RG. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 1983;11:1475-1489.
36. Ji L, Arcinas M, Boxer LM. The transcription factor, Nm22H2, binds to and activates the translocated c-myc allele in Burkitt's lymphoma. J Biol Chem. 1995;270:13392-13398.
37. Tiret L, Amouyel P, Rakotovao R, Cambien F, Ducimetière P. Testing for association between disease and linked marker loci: a log-linear-model analysis. Am J Hum Genet. 1991;48:926-934.
38. Nei M. Molecular evolutionary genetics. 1987.
39. Hoppe KL, Francone OL. Binding and functional effects of transcription factors Sp1 and Sp3 on the proximal human lecithin: cholesterol acyl-transferase promoter. J Lipid Res. 1998;39:969-977.
40. Hall HGC, Miller G, Cruickshank K, Cooper JA, Humphries SE, Talmud PJ. A common mutation in the lipoprotein lipase gene promoter, -93 T/G, is associated with lower plasma triglyceride levels and increased promoter activity 'in vitro.' Arterioscler Thromb Vasc Biol. 1997;17: 1969-1976.
41. Kennett SB, Udvadia AJ, Horowitz JM. Sp3 encodes multiple proteins that differ in their capacity to stimulate or repress transcription. Nucleic Acids Res. 1997;25:3110-3117.
42. Yang WS, Deeb S. Sp1 and Sp3 transactivate the human lipoprotein lipase gene promoter through binding to a CT element: synergy with the sterol regulatory element binding protein and reduced transactivation of a naturally occurring promoter variant. J Lipid Res. 1998;39:2054-2064.
43. Hata Y, Duh E, Zhang K, Robinson GS, Aiello LP. Transcription factors Sp1 and Sp3 alter vascular endothelial growth factor receptor expression through a novel recognition sequence. J Biol Chem. 1998;273: 19294-19303.
44. Long F, Sonenshein GE, Linsenmayer TF. Multiple transcriptional elements in the avian type X collagen gene: identification of Sp1 family proteins as regulators for high level expression in hypertrophic chondrocytes. J Biol Chem. 1998;273:6542-6549.
45. Chouinard RA, Luo Y, Osbome TF, Walsh A, Tall AR. Sterol regulatory element binding protein-1 activates the cholesteryl ester transfer protein gene in vivo but is not required for sterol up-regulation of gene expression. J Biol Chem. 1998;273:22409-22414.
46. Fischer KD, Haese A, Nowock J. Cooperation of GATA-1 and Sp1 can result in synergistic transcriptional activation or interference. J Biol Chem. 1993;268:23915-23923.
47. Ries S, Buchler C, Langmann T, Fehringer P, Aslanidis C, Scmitz G. Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2. J Lipid Res. 1998;39:2125-2134.
48. Shou Y, Baron S, Poncz M. An Sp1-binding silencer element is critical negative regulator of the megakaryocyte specific aIIb gene. J Biol Chem. 1998;273:5716-5726.
49. Lopez-Rodriguez C, Botella L, Corbi AL. CCAAT-enhancer-binding proteins (C/EBP) regulate the tissue specific activity of the CD11c integrin gene promoter through functional interactions with Sp1 proteins. J Biol Chem. 1997;272:29120-29126.
50. Ginsburg GS, Ozer J. Karathanasis SK. Intestinal apolipoprotein AI gene transcription is regulated by multiple distinct DNA elements and is synergistically activated by the orphan nuclear receptor, hepatocyte nuclear factor 4. J Clin Invest. 1995;96:528-538.
51. Hagen G, Muller S, Beato M, Suske G. Sp1 mediated transcriptional activation is repressed by Sp3. EMBO J. 1994;13:3843-3851.
52. Majello B, De Luca P, Lania L. Sp3 is a bifunctional transcription regulator with modular independent activation and repression domains. J Biol Chem. 1997;272:4021-4026.
53. Mann CJ, Yen FT, Grant AM, Bihain BE. Mechanism of plasma cholesteryl ester transfer in hypertriglyceridemia. J Clin Invest. 1991;88: 2059-2066.
54. Tato F, Vega GL, Grundy SM. Bimodal distribution of cholesteryl ester transfer protein activities in nonnotriglyceridemic men with low HDL concentrations. Arterioscler Thromb Vasc Biol. 1995;15:446-451.
55. Zhong S, Sharp DS, Grove JS, Bruce C, Yano K, Curb JD, Tall AR. Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels. J Clin Invest. 1996;97:2917-2923.
56. Hayek T, Masucci-Magoulas L, Jiang X, Walsh A, Rubin E, Breslow JL, Tall AR. Decreased early atherosclerotic lesions in hypertriglyceridemic mice expressing cholesteryl ester transfer protein transgene. J Clin Invest. 1995;2071-2074.
57. Kuivenhoven JA, Jukema JW, Zwinderman AH, De Knijff P, McPherson R, Bruschke AVG, Lie KI, Kastelein JP. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. N Engl J Med. 1998;338:86-93.