Genomic structure and mutations in adipose-specific gene, adiponectin

International Journal of Obesity

Volumn 24, Issue 7, 2000, Pages 861-868

  Takahashi, M ^a   Arita, Y ^a   Yamagata, K ^a   Matsukawa, Y ^a   Okutomi, K ^b   Horie, M ^b   Shimomura, I ^a   Hotta, K ^a   Kuriyama, H ^a   Kihara, S ^a   Nakamura, T ^a   Yamashita, S ^a   Funahashi, T ^a,c   Matsuzawa, Y ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OTSUKA PHARMACEUTICAL CO LTD   (Japan)

^c OSAKA UNIVERSITY   (Japan)

Author keywords

Adipocytokine; Adiponectin; Adipose specific gene; Obesity

Indexed keywords

ADIPONECTIN; PLASMA PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME 3Q; CONTROLLED STUDY; DNA FLANKING REGION; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FEMALE; GENE FREQUENCY; GENE ISOLATION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INTRON; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OBESITY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0033924289     PISSN: 03070565     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ijo.0801244     Document Type: Article

References (37)

1. 1 Funahashi T, Nakamura T, Shimomura I, Macda K, Kuriyama H, Takahashi M, Arita Y, Kihara S, Matsuzawa Y. Role of adipocytokines on the pathogenesis of atherosclerosis in visceral obesity. Intern Med 1999; 38: 202-206.
2. 2 Shimomura I, Funahashi T, Takahashi M, Maeda K, Kotani K, Nakamura T, Yamashita S, Miura M, Fukuda Y, Takemura K, Tokunaga K, Matsuzawa Y. Enhanced expression of PAI-1 in visceral fat: possible contributor to vascular disease in obesity. Nature Med 1996; 2: 800-802.
3. 3 White RT, Damm D, Hancock N, Rosen BS, Lowell BB, Usher P, Flier JS, Spiegelman BM. Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. J Biol Chem 1992; 267: 9210-9213.
4. 4 Hotamisligil GS, Arner P, Caro JF, Atkinson RL, Spiegelman BM. Increased adipose tissue expression of tumor necrosis factor-alpha in human obesity and insulin resistance. J Clin Invest 1995; 95: 2409-2415.
5. 5 Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM. Positional cloning of the mouse obese gene and its human homologue. Nature 1994; 372: 425-432.
6. 6 Maeda K, Okubo K, Shimomura I, Funahashi T, Matsuzawa Y, Matsubara K. cDNA cloning and expression of a novel adipose specific collagen-like factor, apMI (adipose most abundant gene transcript 1). Biochem Biophys Res Commun 1996; 221: 286-289.
7. 7 Arita Y, Kihara S, Ouchi N, Takahashi M, Maeda K, Miyagawa J, Hotta K, Shimomura I, Nakamura T, Miyaoka K., Kuriyama H, Nishida M, Yamashita S, Okubo K, Matsubara K, Muraguchi M, Ohmoto Y, Funahashi T, Matsuzawa Y. Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. Biochem Biophvs Res Commun 1999; 257: 79-83.
8. 8 Horie M, Okutomi K, Taniguchi Y, Ohbuchi Y, Suzuki M, Takahashi E. Isolation and characterization of a new member of the human Ly6 gene family (LY6H). Genomics 1998; 53: 365-368.
9. 9 Reichenberger E, Beier F, Valle PL, Olsen BR, Mark K, Bertling WB. Genomic organization and full-length cDNA sequence of human collagen X. FEBS Lett 1992; 311: 305-310.
10. 10 Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene. Nucleic Acids Res 1987; 15: 7155-7174.
11. 11 Schaffler A, Langmann T, Palitzsch K-D, Scholmerich J, Schmitz G. Identification and characterization of the human adipocyte apM-1 promoter. Biochim Biophys Acta 1998; 1399: 187-197.
12. 12 Phillips M, Djian P, Green H. The nucleotide sequence of three genes participating in the adipose differentiation of 3T3 cells. J Biol Chem 1986; 261: 10821-10827.
13. 13 Mitchell PJ, Tjian R. Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins. Science 1986; 245: 371-378.
14. 14 Flier J S, Cook KS, Usher P, Spiegelman BM. Severely impaired adipsin expression in genetic and acquired obesity. Science 1987; 237: 405-408.
15. 15 Platt KA, Claffey KP, Wilkison WO, Spiegelman BM, Ross SR. Independent regulation of adipose tissue-specificity and obesity response of the adipsin promoter in transgenic mouse. J Biol Chem 1994; 269: 28558-28562.
16. 16 Gurney AL, Kuang WJ, Xie MH, Malloy BE, Eaton DL, Sauvage F. Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin. Blood 1995; 85: 981-988.
17. 17 Takada F, Seki N, Matsuda Y, Takayama Y, Kawakami M. Localization of the genes for the 100-kDa complement-activating components of Ra-reactive factor (CRARF and Crarf) to human 3q27-q28 and mouse 16B2-3. Genomics 1995; 25: 757-759.
18. 18 Jokiaho I, Salo A, Niemi KM, Blomstedt GC, Pihikala J. Deletion 3q27-3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesion. Hum Genet 1989; 83: 302-304.
19. 19 Bastard C, Tilly H, Lenormand B, Bigorgne C, Boulet D, Kunlin A, Monconduit M, Piguet H. Translocations involving band 3q27 and Ig gene regions in non-Hodgkin's lymphoma. Blond 1992; 79: 2527-2531.
20. 20 Rosenblum ND. Recombinant alpha 1 (VIII) collagen chains form homodimers in vitro. Biochem Biophys Res Commun 1996; 227: 205-210.
21. 21 Sellar GC, Blake DJ, Reid KB. Characterization and organization of the genes encoding the A-, B-and C-chains of human complement subcomponent C1q. Biochem J 1991; 274: 481-490.
22. 22 Reid BM. Molecular cloning and characterization of the complementary DNA and gene coding for the B-chain of subcomponent C1q of the human complement system. Biochem J 1985; 231: 729-735.
23. 23 Hu E, Liang P, Spiegelman BM. AdipoQ is a novel adipose-specific gene dysregulated in obesity. J Biol Chem 1996; 271: 10697-10703.
24. 24 Scherer EP, Williams S, Fogliano M, Baldini G, Lodish HF. A novel serum protein similar to C1q, produced exclusively in adipocytes. J Biol Chem 1995; 270: 26746-26749.
25. 25 Napolitano A, Lowell BB, Damm D, Leibel RL, Ravussin K, Jimerson DC, Lesem MD, Dyke DCV, Daly PA, Chatis P, White RT, Spiegelman BM, Flier JS. Concentrations of adipsin in blood and rates of adipsin secretion by adipose tissue in humans with normal, elevated and diminished adipose tissue mass. Int J Obes 1994; 18: 213-218.
26. 26 Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387; 903-908.
27. 27 Ristow M, Muller-Wieland D, Pfeiffer A, Krone W, Kahn R. Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. N Engl J Med 1998; 339: 953-959.
28. 28 Beamer BA, Yen CJ, Anderson RE, Muller D, Elahi D, Cheskin LJ, Andres R, Shuldiner AR. Association of the Pro 12 Ala variant in the peroxisomc proliferator-activated receptor-gamma2 gene with obesity in two Caucasian populations. Diabetes 1998; 47: 1806-1808.
29. 29 Koch M, Rett K, Maerker E, Volk A, Haist K, Deninger M, Renn W, Haring HU. The PPARgamma2 amino acid polymorphism Pro 12 Ala is prevalent in offspring of type II diabetic patients and is associated to increased insulin sensitivity in a subgroup of obese subjects. Diabetologia 1999; 42: 758-762.
30. 30 Ringel J, Engeli S, Distler A, Sharma AM. Pro 12 Ala missense mutation of the peroxisome proliferator activated receptor gamma and diabetes mellitus. Biochem Biophys Res Commun 1999; 254: 450-453.
31. 31 Mancini FP, Vaccaro O, Sabatino L, Tufano A, Rivellese AA, Riccardi G, Colantuoni V. Pro 12 Ala substitution in the peroxisome proliferator-activated receptor-gamma2 is not associated with type 2 diabetes. Diabetes 1999; 48: 1466-1468.
32. 32 Hamann A, Muzberg H, Buttron P, Busing B, Hinney A, Mayer H, Siegfried W, Hebebrand J, Greten H. Missense variants in the human peroxisome proliferator-activated receptor-gamma2 gene in lean and obese subjects. Eur J Endcrinol 1999; 141: 90-92.
33. 33 Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988; 78: 151-155.
34. 34 Peake PW, O'Grady S, Pussell BA, Charlsworth JA. Detection and quantification of the control proteins of the alternative pathway of complement in 3T3-L1 adipocytes. Eur J Clin Invest 1997; 27: 922-927.
35. 35 Choy LN, Spiegelman BM. Regulation of altanative pathway activation and C3a production by adipose cells. Obes Res 1996; 4: 521-532.
36. 36 Cianflone K, Maslowska M, Sniderman AD. Acylation stimulating protein (ASP), an adipocyte autocrine: new directions. Semin Cell Devl Biol 1999; 10: 31-41.
37. 37 Ouchi N, Kihara S, Arita Y, Maeda K, Kuriyama H, Okamoto Y, Hotta K, Nishida M, Takahashi M, Nakamura T, Yamashita S, Funahashi T, Matsuzawa Y. Novel modulator for endothelial adhesion molecules: adipocyte-derived plasma protein, adiponectin. Circulation 1999; 100: 2473-2476.