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Volumn 21, Issue 4, 2008, Pages 280-285

Intracellular retention of human melanocortin-4 receptor: A molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese

Author keywords

Chinese; Melanocortin 4 receptor; Mutation; Obesity

Indexed keywords


EID: 52649095394     PISSN: 08953988     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0895-3988(08)60042-2     Document Type: Article
Times cited : (6)

References (29)
  • 1
    • 0032577404 scopus 로고    scopus 로고
    • Environmental contributions to the obesity epidemic
    • Hill J O, Peters J C (1998). Environmental contributions to the obesity epidemic. Science 280, 1371-1374.
    • (1998) Science , vol.280 , pp. 1371-1374
    • Hill, J.O.1    Peters, J.C.2
  • 2
    • 0032577309 scopus 로고    scopus 로고
    • The search for human obesity genes
    • Comuzzie A G, Allison D B (1998). The search for human obesity genes. Science 280, 1374-1377.
    • (1998) Science , vol.280 , pp. 1374-1377
    • Comuzzie, A.G.1    Allison, D.B.2
  • 3
    • 0034611681 scopus 로고    scopus 로고
    • Genetics of body-weight regulation
    • Barsh G S, Farooqi I S, O'Rahilly S (2000). Genetics of body-weight regulation. Nature 404, 644-651.
    • (2000) Nature , vol.404 , pp. 644-651
    • Barsh, G.S.1    Farooqi, I.S.2    O'Rahilly, S.3
  • 4
    • 3042621978 scopus 로고    scopus 로고
    • The human obesity gene map: The 2003 update
    • Snyder E E, Walts B, Perusse L, et al. (2004). The human obesity gene map: the 2003 update. Obes Res 12, 369-439.
    • (2004) Obes Res , vol.12 , pp. 369-439
    • Snyder, E.E.1    Walts, B.2    Perusse, L.3
  • 5
    • 0027227288 scopus 로고
    • Molecular cloning, expression, and gene localization of a fourth melanocortin receptor
    • Gantz I, Miwa H, Konda Y, et al. (1993). Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J Biol Chem 268, 15174-15179.
    • (1993) J Biol Chem , vol.268 , pp. 15174-15179
    • Gantz, I.1    Miwa, H.2    Konda, Y.3
  • 6
    • 0031687052 scopus 로고    scopus 로고
    • Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping
    • Sundaramurthy D, Campbell D A, Leek J P, et al. (1998). Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping. Cytogenet Cell Genet 82, 97-98.
    • (1998) Cytogenet Cell Genet , vol.82 , pp. 97-98
    • Sundaramurthy, D.1    Campbell, D.A.2    Leek, J.P.3
  • 7
    • 0026800892 scopus 로고
    • The cloning of a family of genes that encode the melanocortin receptors
    • Mountjoy K G, Robbins L S, Mortrud M T, et al. (1992). The cloning of a family of genes that encode the melanocortin receptors. Science 257, 1248-1251.
    • (1992) Science , vol.257 , pp. 1248-1251
    • Mountjoy, K.G.1    Robbins, L.S.2    Mortrud, M.T.3
  • 8
    • 0030614331 scopus 로고    scopus 로고
    • Role of melanocortinergic neurons in feeding and the agouti obesity syndrome
    • Fan W, Boston B A, Kesterson R A, et al. (1997). Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 385, 165-168.
    • (1997) Nature , vol.385 , pp. 165-168
    • Fan, W.1    Boston, B.A.2    Kesterson, R.A.3
  • 9
    • 0030764741 scopus 로고    scopus 로고
    • Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein
    • Ollmann M M, Wilson B D, Yang Y K, et al. (1997). Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein. Science 278, 135-138.
    • (1997) Science , vol.278 , pp. 135-138
    • Ollmann, M.M.1    Wilson, B.D.2    Yang, Y.K.3
  • 10
    • 0031662163 scopus 로고    scopus 로고
    • A frameshift mutation in human MC4R is associated with a dominant form of obesity
    • Vaisse C, Clement K, Guy-Grand B, et al. (1998). A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 20, 113-114.
    • (1998) Nat Genet , vol.20 , pp. 113-114
    • Vaisse, C.1    Clement, K.2    Guy-Grand, B.3
  • 11
    • 0031668219 scopus 로고    scopus 로고
    • A frameshift mutation in MC4R associated with dominantly inherited human obesity
    • Yeo G S, Farooqi I S, Aminian S, et al. (1998). A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 20, 111-112.
    • (1998) Nat Genet , vol.20 , pp. 111-112
    • Yeo, G.S.1    Farooqi, I.S.2    Aminian, S.3
  • 12
    • 20544469112 scopus 로고    scopus 로고
    • Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity
    • Tao Y X (2005). Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity. Mol Cell Endocrinol 239, 1-14.
    • (2005) Mol Cell Endocrinol , vol.239 , pp. 1-14
    • Tao, Y.X.1
  • 13
    • 33646410426 scopus 로고    scopus 로고
    • Editorial: MC4R mutations-weight before screening!
    • Kublaoui B M, Zinn A R (2006). Editorial: MC4R mutations-weight before screening! J Clin Endocrinol Metab 91, 1671-1672.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1671-1672
    • Kublaoui, B.M.1    Zinn, A.R.2
  • 14
    • 14844311561 scopus 로고    scopus 로고
    • F261SA novel mutation of melanocortin 4 receptor gene in the obese patients
    • In Chinese
    • Cai S B, Jia W P, Fang Q C, et al. (2004). F261SA novel mutation of melanocortin 4 receptor gene in the obese patients. Chin J Endocrinol Metab 20, 372-375. (In Chinese)
    • (2004) Chin J Endocrinol Metab , vol.20 , pp. 372-375
    • Cai, S.B.1    Jia, W.P.2    Fang, Q.C.3
  • 15
    • 0030740803 scopus 로고    scopus 로고
    • Molecular screening of the human melanocortin-4 receptor gene: Identification of a missense variant showing no association with obesity, plasma glucose, or insulin
    • Gotoda T, Scott J, Aitman T J (1997). Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin. Diabelologia 40, 976-979.
    • (1997) Diabelologia , vol.40 , pp. 976-979
    • Gotoda, T.1    Scott, J.2    Aitman, T.J.3
  • 16
    • 14844297333 scopus 로고    scopus 로고
    • Cloning and functional analysis of melanocortin 4 receptor mutation gene F261S
    • in Chinese
    • Shao X Y, Jia W P, Cai S B, et al. (2005). Cloning and functional analysis of melanocortin 4 receptor mutation gene F261S. Chin Med J 85, 366-369 (in Chinese).
    • (2005) Chin Med J , vol.85 , pp. 366-369
    • Shao, X.Y.1    Jia, W.P.2    Cai, S.B.3
  • 17
    • 3242732391 scopus 로고    scopus 로고
    • Body mass index reference norm for screening overweight and obesity in Chinese children and adolescents
    • Group of China Obesity Task Force , In Chinese
    • Group of China Obesity Task Force (2004). Body mass index reference norm for screening overweight and obesity in Chinese children and adolescents. Chin Epidemial J 25, 97-102. (In Chinese).
    • (2004) Chin Epidemial J , vol.25 , pp. 97-102
  • 18
    • 0030932567 scopus 로고    scopus 로고
    • Determinants of resting energy expenditure in obese non-diabetic Caucasian women
    • Karhunen L, Franssila-Kallunki A, Rissanen A, et al. (1997). Determinants of resting energy expenditure in obese non-diabetic Caucasian women. Int J Obes Relat Metab Disord 21, 197-202.
    • (1997) Int J Obes Relat Metab Disord , vol.21 , pp. 197-202
    • Karhunen, L.1    Franssila-Kallunki, A.2    Rissanen, A.3
  • 19
    • 0023613953 scopus 로고
    • Rapid and efficient site-specific mutagenesis without phenotypic selection
    • Kunkel T A, Roberts J D, Zakour R A (1987). Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol 154, 367-382.
    • (1987) Methods Enzymol , vol.154 , pp. 367-382
    • Kunkel, T.A.1    Roberts, J.D.2    Zakour, R.A.3
  • 20
    • 0032900284 scopus 로고    scopus 로고
    • Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides
    • Marsh D J, Hollopeter G, Huszar D, et al. (1999). Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides. Nat Genet 21, 119-122.
    • (1999) Nat Genet , vol.21 , pp. 119-122
    • Marsh, D.J.1    Hollopeter, G.2    Huszar, D.3
  • 21
    • 12944331892 scopus 로고    scopus 로고
    • A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors
    • Ste Marie L, Miura G I, Marsh D J, et al. (2000). A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors. Proc Natl Acad Sci USA 97, 12339-12344.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 12339-12344
    • Ste Marie, L.1    Miura, G.I.2    Marsh, D.J.3
  • 22
    • 0034981271 scopus 로고    scopus 로고
    • Melanocortin-4 receptor is required for acute homeostatic responses to increased dietary fat
    • Butler A A, Marks D L, Fan W, et al. (2001). Melanocortin-4 receptor is required for acute homeostatic responses to increased dietary fat. Nat Neurosci 4, 605-611.
    • (2001) Nat Neurosci , vol.4 , pp. 605-611
    • Butler, A.A.1    Marks, D.L.2    Fan, W.3
  • 23
    • 33746040561 scopus 로고    scopus 로고
    • Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population
    • Rong R, Tao Y X, Cheung B M, et al. (2006). Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population. Clin Endocrinol (Oxf) 65, 198-205.
    • (2006) Clin Endocrinol (Oxf) , vol.65 , pp. 198-205
    • Rong, R.1    Tao, Y.X.2    Cheung, B.M.3
  • 24
    • 0041883731 scopus 로고    scopus 로고
    • Modeling and docking of the three-dimensional structure of the human melanocortin 4 receptor
    • Yang X, Wang Z, Dong W, et al. (2003). Modeling and docking of the three-dimensional structure of the human melanocortin 4 receptor. J Protein Chem 22, 335-344.
    • (2003) J Protein Chem , vol.22 , pp. 335-344
    • Yang, X.1    Wang, Z.2    Dong, W.3
  • 25
    • 0141450537 scopus 로고    scopus 로고
    • Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity
    • Tao Y X, Segaloff D L (2003). Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. Endocrinology 144, 4544-4551.
    • (2003) Endocrinology , vol.144 , pp. 4544-4551
    • Tao, Y.X.1    Segaloff, D.L.2
  • 26
    • 0037439274 scopus 로고    scopus 로고
    • Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
    • Lubrano-Berthelier C, Durand E, Dubern B, et al. (2003). Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum Mol Genet 12, 145-153.
    • (2003) Hum Mol Genet , vol.12 , pp. 145-153
    • Lubrano-Berthelier, C.1    Durand, E.2    Dubern, B.3
  • 27
    • 0037456768 scopus 로고    scopus 로고
    • Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene
    • Farooqi I S, Keogh J M, Yeo G S, et al. (2003). Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 348, 1085-1095.
    • (2003) N Engl J Med , vol.348 , pp. 1085-1095
    • Farooqi, I.S.1    Keogh, J.M.2    Yeo, G.S.3
  • 28
    • 0343953074 scopus 로고    scopus 로고
    • Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
    • Farooqi I S, Yeo G S, Keogh J M, et al. (2000). Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J. Clin Invest 106, 271-279.
    • (2000) J. Clin Invest , vol.106 , pp. 271-279
    • Farooqi, I.S.1    Yeo, G.S.2    Keogh, J.M.3
  • 29
    • 0034913118 scopus 로고    scopus 로고
    • A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
    • Mergen M, Mergen H, Ozata M, et al. (2001). A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. J Clin Endocrinol Metab 86, 3448-3451.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3448-3451
    • Mergen, M.1    Mergen, H.2    Ozata, M.3


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