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Volumn 26, Issue 1, 2004, Pages 75-86

Functional and phylogenetic analyses of a melanocortin-4 receptor mutation in domestic pigs

Author keywords

Domestic pigs; Melanocortin 4 receptor; Mutation

Indexed keywords

HIPPOPOTAMIDAE; MAMMALIA; SUIDAE; SUIFORMES; SUS SCROFA DOMESTICA; TAYASSUIDAE;

EID: 1642444790     PISSN: 07397240     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.domaniend.2003.12.001     Document Type: Conference Paper
Times cited : (65)

References (44)
  • 1
    • 0032772960 scopus 로고    scopus 로고
    • The central melanocortin system and energy homeostasis
    • Cone R.D. The central melanocortin system and energy homeostasis. Trends Endocrinol. Metab. 10:1999;211-216.
    • (1999) Trends Endocrinol. Metab. , vol.10 , pp. 211-216
    • Cone, R.D.1
  • 3
  • 7
    • 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., Froguel P. A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat. Genet. 20:1998;113-114.
    • (1998) Nat. Genet. , vol.20 , pp. 113-114
    • Vaisse, C.1    Clement, K.2    Guy-Grand, B.3    Froguel, P.4
  • 8
    • 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. Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin. Diabetologia. 140:1997;976-979.
    • (1997) Diabetologia , vol.140 , pp. 976-979
    • Gotoda, T.1    Scott, J.2    Aitman, T.J.3
  • 9
    • 0033927916 scopus 로고    scopus 로고
    • Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
    • Vaisse C., Clement K., Durand E., Hercberg S., Guy-Grand B., Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest. 106:2000;253-262.
    • (2000) J. Clin. Invest. , vol.106 , pp. 253-262
    • Vaisse, C.1    Clement, K.2    Durand, E.3    Hercberg, S.4    Guy-Grand, B.5    Froguel, P.6
  • 10
    • 0033343736 scopus 로고    scopus 로고
    • Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans
    • Hinney A., Schmidt A., Nottebom K., Heibult O., Becker I., Ziegler A.et al. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J. Clin. Endocrinol. Metab. 84:1999;1483-1486.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 1483-1486
    • Hinney, A.1    Schmidt, A.2    Nottebom, K.3    Heibult, O.4    Becker, I.5    Ziegler, A.6
  • 11
    • 0033010326 scopus 로고    scopus 로고
    • Identification and functional analysis of novel human melanocortin-4 receptor variants
    • Gu W., Tu Z., Kleyn P.W., Kissebah A., Duprat L., Lee J.et al. Identification and functional analysis of novel human melanocortin-4 receptor variants. Diabetes. 48:1999;635-639.
    • (1999) Diabetes , vol.48 , pp. 635-639
    • Gu, W.1    Tu, Z.2    Kleyn, P.W.3    Kissebah, A.4    Duprat, L.5    Lee, J.6
  • 12
    • 0033495921 scopus 로고    scopus 로고
    • Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese
    • Ohshiro Y., Sanke T., Ueda K., Shimajiri Y., Nakagawa T., Tsunoda K.et al. Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese. Ann. Hum. Genet. 63:1999;483-487.
    • (1999) Ann. Hum. Genet. , vol.63 , pp. 483-487
    • Ohshiro, Y.1    Sanke, T.2    Ueda, K.3    Shimajiri, Y.4    Nakagawa, T.5    Tsunoda, K.6
  • 13
    • 0033362016 scopus 로고    scopus 로고
    • Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene
    • Sina M., Hinney A., Ziegler A., Neupert T., Mayer H., Siegfried W.et al. Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. Am. J. Hum. Genet. 65:1999;1501-1507.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1501-1507
    • Sina, M.1    Hinney, A.2    Ziegler, A.3    Neupert, T.4    Mayer, H.5    Siegfried, W.6
  • 14
    • 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., Aminian S., Jebb S.A., Butler G.et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J. Clin. Invest. 106:2000;271-279.
    • (2000) J. Clin. Invest. , vol.106 , pp. 271-279
    • Farooqi, I.S.1    Yeo, G.S.2    Keogh, J.M.3    Aminian, S.4    Jebb, S.A.5    Butler, G.6
  • 15
    • 0034905674 scopus 로고    scopus 로고
    • Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children
    • Dubern B., Clement K., Pelloux V., Froguel P., Girardet J.P., Guy-Grand B.et al. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J. Pediatr. 139:2001;204-209.
    • (2001) J. Pediatr. , vol.139 , pp. 204-209
    • Dubern, B.1    Clement, K.2    Pelloux, V.3    Froguel, P.4    Girardet, J.P.5    Guy-Grand, B.6
  • 16
    • 0034913118 scopus 로고    scopus 로고
    • A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
    • Mergen M., Mergen H., Ozata M., Oner R., Oner C. A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. J. Clin. Endocrinol. Metab. 86:2001;3448.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 3448
    • Mergen, M.1    Mergen, H.2    Ozata, M.3    Oner, R.4    Oner, C.5
  • 17
    • 0036094522 scopus 로고    scopus 로고
    • A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity
    • Kobayashi H., Ogawa Y., Shintani M., Ebihara K., Shimodahira M., Iwakura T.et al. A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity. Diabetes. 51:2002;243-246.
    • (2002) Diabetes , vol.51 , pp. 243-246
    • Kobayashi, H.1    Ogawa, Y.2    Shintani, M.3    Ebihara, K.4    Shimodahira, M.5    Iwakura, T.6
  • 19
    • 18644363563 scopus 로고    scopus 로고
    • Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: The Swedish obese subjects, the HERITAGE family study, and a Memphis cohort
    • Jacobson P., Ukkola O., Rankinen T., Snyder E.E., Leon A.S., Rao D.C.et al. Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish obese subjects, the HERITAGE family study, and a Memphis cohort. J. Clin. Endocrinol. Metab. 87:2002;4442-4446.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 4442-4446
    • Jacobson, P.1    Ukkola, O.2    Rankinen, T.3    Snyder, E.E.4    Leon, A.S.5    Rao, D.C.6
  • 20
    • 0033544936 scopus 로고    scopus 로고
    • Functional characterization of mutations in melanocortin-4 receptor associated with human obesity
    • Ho G., MacKenzie R.G. Functional characterization of mutations in melanocortin-4 receptor associated with human obesity. J. Biol. Chem. 274:1999;35816-35822.
    • (1999) J. Biol. Chem. , vol.274 , pp. 35816-35822
    • Ho, G.1    MacKenzie, R.G.2
  • 21
    • 0037439274 scopus 로고    scopus 로고
    • Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
    • Lubrano-Berthelier C., Durand E., Dubern B., Shapiro A., Dazin P., Weill J.et al. Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum. Mol. Genet. 12:2003;145-153.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 145-153
    • Lubrano-Berthelier, C.1    Durand, E.2    Dubern, B.3    Shapiro, A.4    Dazin, P.5    Weill, J.6
  • 22
    • 0038521280 scopus 로고    scopus 로고
    • Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317
    • VanLeeuwen D., Steffey M.E., Donahue C., Ho G., MacKenzie R.G. Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317. J. Biol. Chem. 278:2003;15935-15940.
    • (2003) J. Biol. Chem. , vol.278 , pp. 15935-15940
    • Vanleeuwen, D.1    Steffey, M.E.2    Donahue, C.3    Ho, G.4    MacKenzie, R.G.5
  • 23
    • 0037341511 scopus 로고    scopus 로고
    • Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms
    • Yeo G.S., Lank E.J., Farooqi I.S., Keogh J., Challis B.G., O'Rahilly S. Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Hum. Mol. Genet. 12:2003;561-574.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 561-574
    • Yeo, G.S.1    Lank, E.J.2    Farooqi, I.S.3    Keogh, J.4    Challis, B.G.5    O'Rahilly, S.6
  • 24
    • 0141564582 scopus 로고    scopus 로고
    • Melanocortin-4 receptor gene: Case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity
    • Hinney A., Hohmann S., Geller F., Vogel C., Hess C., Wermter A.et al. Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. J. Clin. Endocrinol. Metab. 88:2003;4258-4267.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 4258-4267
    • Hinney, A.1    Hohmann, S.2    Geller, F.3    Vogel, C.4    Hess, C.5    Wermter, A.6
  • 25
    • 0027227288 scopus 로고
    • Molecular cloning, expression, and gene localization of a fourth melanocortin receptor
    • Gantz I., Miwa H., Konda Y., Shimoto Y., Tashiro T., Watson S.J.et al. Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J. Biol. Chem. 268:1993;15174-15179.
    • (1993) J. Biol. Chem. , vol.268 , pp. 15174-15179
    • Gantz, I.1    Miwa, H.2    Konda, Y.3    Shimoto, Y.4    Tashiro, T.5    Watson, S.J.6
  • 28
    • 0033958732 scopus 로고    scopus 로고
    • A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits
    • Kim K.-S., Larsen N., Short T., Plastow G., Rothschild M.F. A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits. Mamm. Genome. 11:2000;131-135.
    • (2000) Mamm. Genome , vol.11 , pp. 131-135
    • Kim, K.-S.1    Larsen, N.2    Short, T.3    Plastow, G.4    Rothschild, M.F.5
  • 29
    • 0038801399 scopus 로고    scopus 로고
    • Candidate gene analysis for quantitative traits using the transmission disequilibrium test. the example of the melanocortin 4-receptor in pigs
    • Hernandez-Sanchez J., Visscher P., Plastow G., Haley C. Candidate gene analysis for quantitative traits using the transmission disequilibrium test. The example of the melanocortin 4-receptor in pigs. Genetics. 164:2003;637-644.
    • (2003) Genetics , vol.164 , pp. 637-644
    • Hernandez-Sanchez, J.1    Visscher, P.2    Plastow, G.3    Haley, C.4
  • 30
    • 0037244027 scopus 로고    scopus 로고
    • Presence of melanocortin (MC4) receptor in spiny dogfish suggests an ancient vertebrate origin of central melanocortin system
    • Ringholm A., Klovins J., Fredriksson R., Poliakova N., Larson E.T., Kukkonen J.P.et al. Presence of melanocortin (MC4) receptor in spiny dogfish suggests an ancient vertebrate origin of central melanocortin system. Eur. J. Biochem. 270:2003;213-221.
    • (2003) Eur. J. Biochem. , vol.270 , pp. 213-221
    • Ringholm, A.1    Klovins, J.2    Fredriksson, R.3    Poliakova, N.4    Larson, E.T.5    Kukkonen, J.P.6
  • 31
    • 0037562165 scopus 로고    scopus 로고
    • Molecular cloning, pharmacological characterization, and brain mapping of the melanocortin 4 receptor in the goldfish: Involvement in the control of food intake
    • Cerda-Reverter J.M., Ringholm A., Schioth H.B., Peter R.E. Molecular cloning, pharmacological characterization, and brain mapping of the melanocortin 4 receptor in the goldfish: involvement in the control of food intake. Endocrinology. 144:2003;2336-2349.
    • (2003) Endocrinology , vol.144 , pp. 2336-2349
    • Cerda-Reverter, J.M.1    Ringholm, A.2    Schioth, H.B.3    Peter, R.E.4
  • 32
    • 0034153456 scopus 로고    scopus 로고
    • Rapid communication: Linkage and physical mapping of the porcine melanocortin-4 receptor (MC4R) gene
    • Kim K.-S., Larsen N.J., Rothschild M.F. Rapid communication: linkage and physical mapping of the porcine melanocortin-4 receptor (MC4R) gene. J. Anim. Sci. 78:2000;791-792.
    • (2000) J. Anim. Sci. , vol.78 , pp. 791-792
    • Kim, K.-S.1    Larsen, N.J.2    Rothschild, M.F.3
  • 34
  • 35
    • 0029838624 scopus 로고    scopus 로고
    • PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases
    • Cline J., Braman J.C., Hogrefe H.H. PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases. Nucleic Acids Res. 24:1996;3546-3551.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 3546-3551
    • Cline, J.1    Braman, J.C.2    Hogrefe, H.H.3
  • 39
    • 0038051072 scopus 로고    scopus 로고
    • Engineering the melanocortin-4 receptor to control G(s) signaling in vivo
    • Srinivasan S., Vaisse C., Conklin B.R. Engineering the melanocortin-4 receptor to control G(s) signaling in vivo. Ann. NY Acad. Sci. 994:2003;225-232.
    • (2003) Ann. NY Acad. Sci. , vol.994 , pp. 225-232
    • Srinivasan, S.1    Vaisse, C.2    Conklin, B.R.3
  • 41
    • 0035543337 scopus 로고    scopus 로고
    • A SNP in the cattle MC4R gene is used to map MC4R to BTA 24
    • Thue T.D., Schmutz S.M., Buchanan F.C. A SNP in the cattle MC4R gene is used to map MC4R to BTA 24. Anim. Genet. 32:2001;390-391.
    • (2001) Anim. Genet. , vol.32 , pp. 390-391
    • Thue, T.D.1    Schmutz, S.M.2    Buchanan, F.C.3
  • 42
    • 0036010124 scopus 로고    scopus 로고
    • Melanocortin-4 receptor (MC4R) genotypes have no major effect on fatness in a Large White × Wild Boar intercross
    • Park H.B., Carlborg O., Marklund S., Andersson L. Melanocortin-4 receptor (MC4R) genotypes have no major effect on fatness in a Large White × Wild Boar intercross. Anim. Genet. 33:2002;155-157.
    • (2002) Anim. Genet. , vol.33 , pp. 155-157
    • Park, H.B.1    Carlborg, O.2    Marklund, S.3    Andersson, L.4
  • 44
    • 0038693120 scopus 로고    scopus 로고
    • Tests of candidate genes in breed cross populations for QTL mapping in livestock
    • Zhao H., Rothschild M.F., Fernando R.L., Dekkers J.C.M. Tests of candidate genes in breed cross populations for QTL mapping in livestock. Mamm. Genome. 14:2003;472-482.
    • (2003) Mamm. Genome , vol.14 , pp. 472-482
    • Zhao, H.1    Rothschild, M.F.2    Fernando, R.L.3    Dekkers, J.C.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.