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ob gene mutations and human obesity

Published online by Cambridge University Press:  28 February 2007

Sadaf Farooqi*
Affiliation:
University Departments of Medicine and Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
Harald Rau
Affiliation:
University Departments of Medicine and Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
Jonathan Whitehead
Affiliation:
University Departments of Medicine and Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
Stephen O'Rahilly
Affiliation:
University Departments of Medicine and Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK
*
*Corresponding author: Dr Sadaf Farooqi, fax +44(0)1223 330160, email [email protected]
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Abstract

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Type
Simposium on ‘Leptin: energy regulation and beyond’
Copyright
Copyright © The Nutrition Society 1998

References

Ahima, RS, Prabakaran, D, Mantzoros, C, Qu, D, Lowell, B, Maratos-Flier, E & Flier, JS (1996) Role of leptin in the neuroendocrine response to fasting. Nature 382, 250252.Google Scholar
Borjeson, M (1976) The aetiology of obesity in children. Acta Paediatrica Scandinavica 65, 279287.Google Scholar
Bouchard, C (1996) The causes of obesity: advances in molecular biology but stagnation on the genetic front. Diabetologia 39, 15321533.Google Scholar
Campfield, LA, Smith, FJ, Guisez, Y, Devos, R & Burn, P (1995) Recombinant mouse ob protein: Evidence for a peripheral signal linking adiposity and central networks. Science 269, 546549.Google Scholar
Chen, H, Charlat, O, Tartaglia, LA, Woolf, EA, Weng, X, Ellis, S, Lakey, ND, Culpepper, J, Moore, KJ, Brietbart, RE, Duyk, GM, Tepper, RI & Morgenstern, JP (1996) Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell 84, 491495.Google Scholar
Coleman, DL (1979) Obesity genes: beneficial effects in heterozygous mice. Science 203, 663665.Google Scholar
Considine, RV, Considine, EL, Williams, CJ, Nyce, MR, Magosin, SA, Bauer, TL, Rosato, EL, Colberg, J & Caro, JF (1995 a). Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity. Journal of Clinical Investigation 95, 29862988.Google Scholar
Considine, RV, Sinha, MK, Heiman, ML, Kriauciunas, A, Stephens, TW, Nyce, MR, Ohannesian, JP, Marco, CC, Mckee, LJ, Bauer, TL & Caro, JF (1995 b). Serum immunoreactive-leptin concentrations in normal-weight and obese humans. New England Journal of Medicine 334, 292295.CrossRefGoogle Scholar
Fomon, SJ, Haschke, F, Ziegler, EE & Nelson, SE (1982) Body composition of reference children from birth to age 10 years. American Journal of Clinical Nutrition 35, 11691175.Google Scholar
Fricker, LD, Berman, YL, Leiter, EH & Devi, LA (1996) Carboxypeptidase E is deficient in mice with the fat mutation: effect on peptide processing. Journal of Biological Chemistry 271, 3061930624.Google Scholar
Garrow, JS & Webster, J (1985) Quetelet's Index (W/H2) as a measure of fatness. International Journal of Obesity 9, 147153.Google Scholar
Halaas, JL, Gajiwala, KS, Maffei, M, Cohen, SL, Chait, BT, Rabinowitz, D, Lallone, RL, Burley, SK & Friedman, JM (1995) Weightreducing effects of the plasma protein encoded by the obese gene. Science 269, 543546.Google Scholar
Huszar, D, Lynch, CA, Fairchild-huntress, V, Dunmore, JH, Fang, Q, Berkemeier, LR, Gu, W, Kesterson, RA, Boston, BA, Cone, RD, Smith, FJ, Campfield, LA, Burn, P & Lee, F (1997) Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 88, 131141.Google Scholar
Lee, JH, Reed, DR & Price, RA (1997) Familial risk ratios for extreme obesity: implications for mapping human obesity genes. International Journal of Obesity 21, 935940.Google Scholar
Maffei, M, Fei, H, Lee, GW, Dani, C, Leroy, P, Zhang, Y, Proenca, R, Negrel, R, Ailhaud, G & Friedman, JM (1995) Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. Proceedings of the National Academy of Sciences USA 92, 6957–4960.Google Scholar
Maffei, M, Stoffel, M, Barone, M, Moon, B, Dammerman, M, Ravussin, E, Bogardus, C, Ludwig, DS, Flier, JS, Tailey, M, Auerbach, S & Friedman, JM (1996) Absence of mutations in the human ob gene in obese/diabetic subjects. Diabetes 45, 679682.Google Scholar
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 (1997 a) Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 387, 903908.Google Scholar
Montague, CT, Prins, JB, Sanders, L, Digby, JE & O'Rahilly, S (1997 b) Depot and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution. Diabetes 46, 342347.CrossRefGoogle ScholarPubMed
Nobentrauth, K, Naggert, JK, North, MA & Nishina, PM (1996) A candidate for the mouse mutation tubby. Nature 380, 534538.Google Scholar
Pelleymounter, MA, Cullen, MJ, Baker, MB, Hecht, R, Winters, D, Boone, T & Collins, F (1995) Effects of the obese gene product on body weight regulation in ob/ob mice. Science 269, 540& 543.Google Scholar
Stephens, TW, Bashinski, M, Bristow, PK, Bue-Vaileskey, JM, Burgett, SG, Hale, H, Hoffmann, J, Hsiung, HM, Krauciunas, A, Mackellar, W, Rostack, PR, Schoner, B, Smith, D, Tinsley, FC, Zhang, XY & Helman, M (1995) The role of neuropeptide Y in the antiobesity action of the obese gene product. Nature 377, 530534.Google Scholar
Stunkard, AJ, Foch, TT & Hrubec, Z (1986 a) A twin study of human obesity. Journal of the American Medical Association 256, 5154.CrossRefGoogle ScholarPubMed
Stunkard, AJ, Sorensen, TIA, Hanis, C, Teasdale, TW, Chakraborty, R, Schull, WJ & Schulsinger, F (1986 b). An adoption study of human obesity. New England Journal of Medicine 314, 193196.Google Scholar
Vaisse, C, Halas, JL, Horvath, CM, Darnell, JE Jr, Stoffei, M & Friedman, JM (1996) Leptin activation of Stat3 in the hypothalamus of wild type and ob/ob mice but not db/db mice. Nature Genetics 14, 9597.Google Scholar
Zhang, F, Basinski, MB, Beak, JM, Briggs, SL, Churgay, LM, Clawson, DK, DiMarchi, RD, Furman, TC, Hale, JE, Hsiung, HM, Schoner, BE, Smith, DP, Zhang, XY, Wery, J & Schevitz, RW (1997) Crystal structure of the obese protein leptin-E100. Nature 387, 206209.Google Scholar
Zhang, Y, Proenca, R, Maffei, M, Barone, M, Leopold, L & Freidman, JM (1994) Positional cloning of the mouse obese gene and its human homologue. Nature 372, 425432.Google Scholar