Molecular basis of human CD36 gene mutations

Molecular Medicine

Volumn 13, Issue 5-6, 2007, Pages 288-296

  Rać, Monika Ewa ^a,b   Safranow, Krzysztof ^a   Poncyljusz, Wojciech ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b Department of Biochemistry and Medical Chemistry ^*  (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CD36 ANTIGEN; MEMBRANE PROTEIN; SCAVENGER RECEPTOR;

ALZHEIMER DISEASE; ANTIGEN EXPRESSION; ATHEROSCLEROSIS; CARDIOMYOPATHY; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE COURSE; FATTY ACID METABOLISM; GENE MUTATION; GENE STRUCTURE; GLUCOSE INTOLERANCE; HUMAN; HYPERTENSION; MALARIA; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; RNA SPLICING;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANTIGENS, CD36; BASE SEQUENCE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 34547451564     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/2006-00088.Rac     Document Type: Review

References (91)

1. Fernandez-Ruiz E, Armesilla AL, Sanchez-Madrid F, Vega MA. (1993) Gene encoding the collagen type I and thrombospondin receptor CD36 is located on chromosome 7q11.2. Genomics 17:759-61.
2. Armesilla AL, Calvo D, Vega MA. (1996) Structural and functional characterization of the human CD36 gene promoter: identification of a proximal PEBP2/CBF site. J. Biol. Chem. 271:7781-7.
3. Armesilla AL, Vega MA. (1994) Structural organization of the gene for human CD36 glycoprotein. J. Biol. Chem. 269:18985-91.
4. Oquendo P, Hundt E, Lawler J, Seed B. (1989) CD36 directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes. Cell 58:95-101.
5. McGregor JL, Catimel B, Parmentier S, Clezardin P, Dechavanne M, Leung LL. (1989) Rapid purification and partial characterization of human platelet glycoprotein IIIb. Interaction with thrombospondin and its role in platelet aggregation. J. Biol. Chem. 264:501-6.
6. Greenwalt DE, Lipsky RH, Ockenhouse CF, Ikeda H, Tandon NN, Jamieson GA. (1992) Membrane glycoprotein CD36: a review of its roles in adherence, signal transduction, and transfusion medicine. Blood 80:1105-15.
7. Take H, Kashiwagi H, Tomiyama Y, et al. (1993) Expression of GPIV and N(aka) antigen on monocytes in N(aka)-negative subjects whose platelets lack GPIV. Br. J. Haematol. 84:387-91.
8. Nicholson AC, Han J, Febbraio M, Silversterin RL, Hajjar DP. (2001) Role of CD36, the macrophage class B scavenger receptor, in atherosclerosis. Ann. N. Y. Acad. Sci. 947:224-8.
9. Rusinol AE, Yang L, Thewke D, Panini SR, Kramer MF, Sinensky MS. (2000) Isolation of a somatic cell mutant resistant to the induction of apoptosis by oxidized low density lipoprotein. J. Biol. Chem. 275:7296-303.
10. Matsumoto K, Hirano K, Nozaki S, et al. (2000) Expression of macrophage (Mphi) scavenger receptor, CD36, in cultured human aortic smooth muscle cells in association with expression of peroxisome proliferator activated receptor-gamma, which regulates gain of Mphi-like phenotype in vitro, and its implication in atherogenesis. Arterioscler. Thromb. Vasc. Biol. 20:1027-32.
11. Nicholson AC, Hajjar DP. (2004) CD36, oxidized LDL and PPAR gamma: pathological interactions in macrophages and atherosclerosis. Vascul. Pharmacol. 2004; 41:139-46.
12. Nicholson AC. (2004) Expression of CD36 in macrophages and atherosclerosis: the role of lipid regulation of PPARgamma signaling. Trends Cardiovasc. Med. 14:8-12.
13. Sato O, Kuriki C, Fukui Y, Motojima K. (2002) Dual promoter structure of mouse and human fatty acid translocase/CD36 genes and unique transcriptional activation by peroxisome proliferator-activated receptor alpha and gamma ligands. J. Biol. Chem. 277:15703-11.
14. Feng J, Han J, Pearce SF, Silverstein RL, Gotto AM Jr, Hajjar DP, Nicholson AC. (2000) Induction of CD36 expression by oxidized LDL and IL-4 by a common signaling pathway dependent on protein kinase C and PPAR-gamma. J. Lipid. Res. 41:688-96.
15. Griffin E, Re A, Hamel N, Fu C, Bush H, McCaffrey T, Asch AS. (2001) A link between diabetes and atherosclerosis: Glucose regulates expression of CD36 at the level of translation. Nat. Med. 7:840-6.
16. Liang CP, Han S, Okamoto H, Carnemolla R, Tabas I, Accili D, Tall AR. (2004) Increased CD36 protein as a response to defective insulin signaling in macrophages. J. Clin. Invest. 113:764-73.
17. Yesner LM, Huh HY, Pearce SF, Silverstein RL. (1996) Regulation of monocyte CD36 and thrombospondin-1 expression by soluble mediators. Arterioscler. Thromb. Vasc. Biol. 16:1019-25.
18. Yanai H, Chiba H, Morimoto M, et al. (2000) Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. Am. J. Med. Genet. 93:299-304.
19. Watanabe K, Ohta Y, Toba K, et al. (1998) Myocardial CD36 expression and fatty acid accumulation in patients with type 1 and II CD36 deficiency. Ann. Nucl. Med. 12:261-6.
20. Bastie CC, Hajri T, Drover VA, Grimaldi PA, Abumrad NA. (2004) CD36 in myocytes channels fatty acids to a lipase-accessible triglyceride pool that is related to cell lipid and insulin responsiveness. Diabetes 53:2209-16.
21. Andersen M, Lenhard B, Whatling C, Eriksson P, Abumrad NA. (2006) Alternative promoter usage of the membrane glycoprotein CD36. BMC Mol. Biol. 7:8.
22. Sato O, Takanashi N, Motojima K. (2007) Third promoter and differential regulation of mouse and human fatty acid translocase/CD36 genes. Mol. Cell. Biochem. 299:37-43.
23. Noguchi K, Naito M, Tezuka K, et al. (1993) cDNA expression cloning of the 85-kDa protein overexpressed in adriamycin-resistant cells. Biochem. Biophys. Res. Commun. 192:88-95.
24. Taylor KT, Tang Y, Sobieski DA, Lipsky RH. (1993) Characterization of two alternatively spliced 5′-untranslated exons of the human CD36 gene in different cell types. Gene 133:205-12.
25. Tang Y, Taylor KT, Sobieski DA, Medved ES, Lipsky RH. (1994) Identification of a human CD36 isoform produced by exon skipping. Conservation of exon organization and pre-mRNA splicing patterns with a CD36 gene family member, CLA-1. J. Biol. Chem. 269:6011-5.
26. Abumrad NA, el-Maghrabi MR, Amri EZ, Lopez E, Grimaldi PA. (1993) Cloning of a rat adipocyte membrane protein implicated in binding or transport of long-chain fatty acids that is induced during preadipocyte differentiation: homology with human CD36. J. Biol. Chem. 268:17665-8.
27. Acton S, Rigotti A, Landschulz KT, Xu S, Hobbs HH, Krieger M. (1996) Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science 271:518-20.
28. Febbraio M, Hajjar DP, Silverstein RL. (2001) CD36: a class B scavenger receptor involved in angiogenesis, atherosclerosis, inflammation, and lipid metabolism. J. Clin. Invest. 108:785-91.
29. Rasmussen JT, Berglund L, Rasmussen MS, Petersen TE. (1998) Assignment of disulfide bridges in bovine CD36. Eur. J. Biochem. 257:488-94.
30. Gruarin P, Thorne RF, Dorahy DJ, Burns GF, Sitia R, Alessio M. (2000) CD36 is a ditopic glycoprotein with the N-terminal domain implicated in intracellular transport. Biochem. Biophys. Res. Commun. 275:446-54.
31. Endemann G, Stanton LW, Madden KS, Bryant CM, White RT, Protter AA. (1993) CD36 is a receptor for oxidized low density lipoprotein. J. Biol. Chem. 268:11811-6.
32. Nicholson AC, Hajjar DP. (1998) Herpesvirus in atherosclerosis and thrombosis: etiologic agents or ubiquitous bystanders? Arterioscler. Thromb. Vasc. Biol. 18:339-48.
33. Nozaki S, Kashiwagi H, Yamashita S, et al. (1995) Reduced uptake of oxidized low density lipoproteins in monocyte-derived macrophages from CD36-deficient subjects. J. Clin. Invest. 1995; 96:1859-65.
34. Puente-Navazo MD, Daviet L, Ninio E, McGregor JL. (1996) Identification on human CD36 of a domain (155-183) implicated in binding oxidized low-density lipoproteins (Ox-LDL). Arterioscler. Thromb. Vasc. Biol. 16:1033-9.
35. Ren Y, Silverstein RL, Allen J, Savill J. (1995) CD36 gene transfer confers capacity for phagocytosis of cells undergoing apoptosis. J. Exp. Med. 181:1857-62.
36. Savill J, Hogg N, Ren Y, Haslett C. (1992) Thrombospondin cooperates with CD36 and the vitronectin receptor in macrophage recognition of neutrophils undergoing apoptosis. J. Clin. Invest. 90:1513-22.
37. Silverstein RL, Asch AS, Nachman RL. (1989) Glycoprotein IV mediates thrombospondin-dependent platelet-monocyte and platelet-U937 cell adhesion. J. Clin. Invest. 84:546-52.
38. Alessio M, Greco NJ, Primo L, et al. (1993) Platelet activation and inhibition of malarial cytoadherence by the anti-CD36 IgM monoclonal antibody NL07. Blood 82:3637-47.
39. Baillie AG, Coburn CT, Abumrad NA. (1996) Reversible binding of long-chain fatty acids to purified FAT, the adipose CD36 homolog. J. Membr. Biol. 153:75-81.
40. Hwang EH, Taki J, Yasue S, et al. (1998) Absent myocardial iodine-123-BMIPP uptake and platelet/monocyte CD36 deficiency. J. Nucl. Med. 39:1681-4.
41. Frieda S, Pearce A, Wu J, Silverstein RL. (1995) Recombinant GST/CD36 fusion proteins define a thrombospondin binding domain. Evidence for a single calcium-dependent binding site on CD36. J. Biol. Chem. 270:2981-6.
42. Kashiwagi H, Tomiyama Y, Kosugi S, et al. (1995) Family studies of type II CD36 deficient subjects: linkage of a CD36 allele to a platelet-specific mRNA expression defect(s) causing type II CD36 deficiency. Thromb. Haemost. 74:758-63.
43. Tandon NN, Kralisz U, Jamieson GA. (1989) Identification of glycoprotein IV (CD36) as a primary receptor for platelet-collagen adhesion. J. Biol. Chem. 264:7576-83.
44. Yamamoto N, Akamatsu N, Sakuraba H, Yamazaki H, Tanoue K. (1994) Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes. Blood 83:392-7.
45. Leung LL, Li WX, McGregor JL, Albrecht G, Howard RJ. (1992) CD36 peptides enhance or inhibit CD36-thrombospondin binding. A two-step process of ligand-receptor interaction. J. Biol. Chem. 267:18244-50.
46. Asch AS, Liu I, Briccetti FM, et al. (1993) Analysis of CD36 binding domains: ligand specificity controlled by dephosphorylation of an ectodomain. Science 262:1436-40.
47. Kashiwagi H, Tomiyama Y, Honda S, et al. (1995) Molecular basis of CD36 deficiency. Evidence that a 478C→ T substitution (proline90→ serine) in CD36 cDNA accounts for CD36 deficiency. J. Clin. Invest. 95:1040-6.
48. Kashiwagi H, Honda S, Tomiyama Y, et al. (1993) A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency. Thromb. Haemost. 1993; 69:481-4.
49. Gelhaus A, Scheding A, Browne E, Burchard GD, Horstmann RD. (2001) Variability of the CD36 gene in West Africa. Hum. Mutat. 18:444-50.
50. Omi K, Ohashi J, Patarapotikul J, Hananantachai H, Naka I, Looareesuwan S, Tokunaga K. (2003) CD36 polymorphism is associated with protection from cerebral malaria. Am. J. Hum. Genet. 72:364-74.
51. Imai M, Tanaka T, Kintaka T, Ikemoto T, Shimizu A, Kitaura Y. (2002) Genomic heterogeneity of type II CD36 deficiency. Clin. Chim. Acta 321:97-106.
52. Hanawa H, Watanabe K, Nakamura T, et al. (2002) Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. J. Med. Genet. 39:286-91.
53. Aitman TJ, Cooper LD, Norsworthy PJ, et al. (2000) Malaria susceptibility and CD36 mutation. Nature 405:1015-6.
54. Lepretre F, Vasseur F, Vaxillaire M, et al. (2004) A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes. Hum. Mutat. 24:104-10.
55. Kashiwagi H, Tomiyama Y, Kosugi S, et al. (1994) Identification of molecular defects in a subject with type I CD36 deficiency. Blood 83:3545-52.
56. Tanaka T, Nakata T, Oka T, et al. (2001) Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations. J. Lipid. Res. 42:751-9.
57. Kashiwagi H, Tomiyama Y, Nozaki S, et al. (2001) Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man. Hum. Genet. 108:459-66.
58. Kashiwagi H, Tomiyama Y, Nozaki S, et al. (1996) A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency. Arterioscler. Thromb. Vasc. Biol. 16:1026-32.
59. Curtis BR, Ali S, Glazier AM, Ebert DD, Aitman TJ, Aster RH. (2002) Isoimmunization against CD36 (glycoprotein IV): description of four cases of neonatal isoimmune thrombocytopenia and brief review of the literature. Transfusion 42:1173-9.
60. Lipsky RH, Ikeda H, Medved ES. (1994) A dinucleotide repeat in the third intron of CD36. Hum. Mol. Genet. 3:217
61. Yanai H, Chiba H, Fujiwara H, et al. (2000) Phenotype-genotype correlation in CD36 deficiency types I and II. Thromb. Haemost. 84:436-41.
62. Kincer JF, Uittenbogaard A, Dressman J, Guerin TM, Febbraio M, Guo L, Smart EJ. (2002) Hypercholesterolemia promotes a CD36-dependent and endothelial nitric-oxide synthase-mediated vascular dysfunction. J. Biol. Chem. 277:23525-33.
63. Steinberg HO, Baron AD. (2002) Vascular function, insulin resistance and fatty acids. Diabetologia 45:623-34.
64. Hayek T, Aviram M, Heinrich R, Sakhnini E, Keidar S. (2000) Losartan inhibits cellular uptake of oxidized LDL by monocyte-macrophages from hypercholesterolemic patients. Biochem. Biophys. Res. Commun. 273:417-20.
65. Febbraio M, Abumrad NA, Hajjar DP, Sharma K, Cheng W, Pearce SF, Silverstein RL. (1999) A null mutation in murine CD36 reveals an important role in fatty acid and lipoprotein metabolism. J. Biol. Chem. 274:19055-62.
66. Rać ME. (2005) CD36 receptor mutations and atherosclerosis. Prog. Med. Res. 3:9 (on-line)
67. Miyaoka K, Kuwasako T, Hirano K, Nozaki S, Yamashita S, Matsuzawa Y. (2001) CD36 deficiency associated with insulin resistance. Lancet 357:686-7.
68. Kadlecova M, Cejka J, Zicha J, Kunes J. (2004) Does CD36 gene play a key role in disturbed glucose and fatty acid metabolism in Prague hypertensive hypertriglyceridemic rats? Physiol. Res. 53:265-71.
69. Glazier AM, Scott J, Aitman TJ. (2002) Molecular basis of the Cd36 chromosomal deletion underlying SHR defects in insulin action and fatty acid metabolism. Mamm. Genome 13:108-113.
70. Hsu LA, Ko YL, Wu S, et al. (2003) Association between a novel 11-base pair deletion mutation in the promoter region of the scavenger receptor class B type I gene and plasma HDL cholesterol levels in Taiwanese Chinese. Arterioscler. Thromb. Vasc. Biol. 23:1869-74.
71. Huszar D, Varban ML, Rinninger F, et al. (2000) Increased LDL cholesterol and atherosclerosis in LDL receptor-deficient mice with attenuated expression of scavenger receptor B1. Arterioscler. Thromb. Vasc. Biol. 20:1068-73.
72. Calvo D, Gomez-Coronado D, Suarez Y, Lasuncion MA, Vega MA. (1998) Human CD36 is a high affinity receptor for the native lipoproteins HDL, LDL, and VLDL. J. Lipid. Res. 39:777-88.
73. Nozaki S, Tanaka T, Yamashita S, et al. (1999) CD36 mediates long-chain fatty acid transport in human myocardium: complete myocardial accumulation defect of radiolabeled long-chain fatty acid analog in subjects with CD36 deficiency. Mol. Cell. Biochem. 192:129-135.
74. Bonen A, Campbell SE, Benton CR, et al. (2004) Regulation of fatty acid transport by fatty acid translocase/CD36. Proc. Nutr. Soc. 63:245-9.
75. Ma X, Bacci S, Mlynarski W, et al. (2004) A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians. Hum. Mol. Genet. 13:2197-2205.
76. Ibrahimi A, Abumrad NA. (2002) Role of CD36 in membrane transport of long-chain fatty acids. Curr. Opin. Clin. Nutr. Metab. Care 5:139-45.
77. Kintaka T, Tanaka T, Imai M, Adachi I, Narabayashi I, Kitaura Y. (2002) CD36 genotype and long-chain fatty acid uptake in the heart. Circ. J. 66:819-25.
78. Nozaki S, Tanaka T, Yamashita S, et al. (1999) CD36 mediates long-chain fatty acid transport in human myocardium: complete myocardial accumulation defect of radiolabeled long-chain fatty acid analog in subjects with CD36 deficiency. Mol. Cell. Biochem. 192:129-35.
79. Teraguchi M, Ohkohchi H, Ikemoto Y, Higashino H., Kobayashi Y. (2003) CD36 deficiency and absent myocardial iodine-123-(R,S)-15-(p-iodophenyl)-3- methylpentadecanoic acid uptake in a girl with cardiomyopathy. Eur. J. Pediatr. 162:264-6.
80. Tanaka T, Sohmiya K, Kawamura K. (1997) Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? J. Mol. Cell. Cardiol. 29:121-7.
81. Okamoto F, Tanaka T, Sohmiya K, Kawamura K. (1998) CD36 abnormality and impaired myocardial long-chain fatty acid uptake in patients with hypertrophic cardiomyopathy. Jpn. Circ. J. 62:499-504.
82. Kobylka D, Carraway KL. (1973) Proteolytic digestion of proteins of the milk fat globule membrane. Biochim. Biophys. Acta. 307:133-40.
83. Ge Y, Elghetany MT. (2005) CD36: a multiligand molecule. Lab. Hematol. 11:31-7.
84. Hajri T, Han XX, Bonen A, Abumrad NA. (2002) Defective fatty acid uptake modulates insulin responsiveness and metabolic responses to diet in CD36-null mice. J. Clin. Invest. 109:1381-9.
85. Tedgui A, Mallat Z. (2002) Platelets in atherosclerosis: a new role for beta-amyloid peptide beyond Alzheimer's disease. Circ. Res. 90:1145-6.
86. Uittenbogaard A, Shaul PW, Yuhanna IS, Blair A, Smart EJ. (2000) High density lipoprotein prevents oxidized low density lipoprotein-induced inhibition of endothelial nitric-oxide synthase localization and activation in caveolae. J. Biol. Chem. 275:11278-83.
87. Febbraio M, Podrez EA, Smith JD, et al. (2000) Targeted disruption of the class B scavenger receptor CD36 protects against atherosclerotic lesion development in mice. J. Clin. Invest. 105:1049-56.
88. Nakata A, Nakagawa Y, Nishida M, et al. (1999) CD36, a novel receptor for oxidized low-density lipoproteins, is highly expressed on lipid-laden macrophages in human atherosclerotic aorta. Arterioscler. Thromb. Vasc. Biol. 19:1333-9.
89. Nakamura T, Saito Y, Ohyama Y, Uchiyama T, Sumino H, Kurabayashi M. (2004) Effect of cerivastatin on endothelial dysfunction and aortic CD36 expression in diabetic hyperlipidemic rats. Hypertens. Res. 27:589-98.
90. Ruiz-Velasco N, Dominguez A, Vega MA. (2004) Statins upregulate CD36 expression in human monocytes, an effect strengthened when combined with PPAR-gamma ligands Putative contribution of Rho GTPases in statin-induced CD36 expression. Biochem. Pharmacol. 67:303-13.
91. Puccetti L, Sawamura T, Pasqui AL, Pastorelli M, Auteri A, Bruni F. (2005) Atorvastatin reduces platelet-oxidized-LDL receptor expression in hypercholesterolaemic patients. Eur J. Clin. Invest. 35:47-51.