Erratum: Melanocortin-4 receptor gene mutations in a dutch cohort of obese children (Obesity 19 (604-611) DOI:10.1038/oby.2010.259);Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children

Obesity

Volumn 19, Issue 3, 2011, Pages 604-611

  Van Den Berg, Linda ^a,b   Van Beekum, Olivier ^c   Heutink, Peter ^b   Felius, Bram A ^a   Van De Heijning, Monique P M ^b   Strijbis, Stefan ^b   Van Spaendonk, Rosalina ^b   Piancatelli, Daniela ^d   Garner, Keith M ^c   El Aouad, Rajae ^e   Sistermans, Erik ^b   Adan, Roger A H ^c   Delemarre Van De Waal, Henriette A ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d CNR   (Italy)

^e INSTITUT NATIONAL D HYGIÈNE   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; MELANOCORTIN 4 RECEPTOR; PHENYLALANINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; BODY MASS; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; DNA SEQUENCE; ETHNICITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; OBESITY; ONSET AGE; PREDICTION; PRESCHOOL CHILD; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN EXPRESSION; RECEPTOR BINDING; SCHOOL CHILD; TRANSCRIPTION INITIATION SITE;

EID: 79952002228     PISSN: 19307381     EISSN: 1930739X     Source Type: Journal    
DOI: 10.1038/oby.2010.272     Document Type: Erratum

References (38)

1. Wardle J, Carnell S, Haworth CM, Plomin R. Evidence for a strong genetic influence on childhood adiposity despite the force of the obesogenic environment. Am J Clin Nutr 2008;87:398-404. (Pubitemid 351226077)
2. Adan RA, Tiesjema B, Hillebrand JJ et al. The MC4 receptor and control of appetite. Br J Pharmacol 2006;149:815-827. (Pubitemid 44851706)
3. Loos RJ, Lindgren CM, Li S et al.; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial; KORA; Nurses' Health Study; Diabetes Genetics Initiative; SardiNIA Study; Wellcome Trust Case Control Consortium; FUSION. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008;40:768-775.
4. Qi L, Kraft P, Hunter DJ, Hu FB. The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women. Hum Mol Genet 2008;17:3502-3508.
5. Bauer F, Elbers CC, Adan RA et al. Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference. Am J Clin Nutr 2009;90:951-959.
6. Dempfle A, Hinney A, Heinzel-Gutenbrunner M et al. Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index. J Med Genet 2004;41:795-800. (Pubitemid 39389299)
7. Farooqi IS, Keogh JM, Yeo GS et al. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003;348:1085-1095. (Pubitemid 36337319)
8. Stutzmann F, Tan K, Vatin V et al. Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 2008;57:2511-2518.
9. Alharbi KK, Spanakis E, Tan K et al. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Hum Mutat 2007;28:294-302.
10. Lubrano-Berthelier C, Cavazos M, Le Stunff C et al. The human MC4R promoter: characterization and role in obesity. Diabetes 2003;52:2996-3000. (Pubitemid 37466871)
11. Ma L, Tataranni PA, Bogardus C, Baier LJ. Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. Diabetes 2004;53:2696-2699. (Pubitemid 39299281)
12. Valli-Jaakola K, Lipsanen-Nyman M, Oksanen L et al. Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. J Clin Endocrinol Metab 2004;89:940-945. (Pubitemid 38269915)
13. Valli-Jaakola K, Palvimo JJ, Lipsanen-Nyman M et al. A two-base deletion-439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity. Horm Res 2006;66:61-69. (Pubitemid 44114429)
14. Hughes DA, Hinney A, Brumm H et al. Increased constraints on MC4R during primate and human evolution. Hum Genet 2009;124:633-647.
15. Bromberg Y, Overton J, Vaisse C, Leibel RL, Rost B. In silico mutagenesis: a case study of the melanocortin 4 receptor. FASEB J 2009;23:3059-3069.
16. Hestand MS, van Galen M, Villerius MP et al. CORE-TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes. BMC Bioinformatics 2008;9:495.
17. Rusinov V, Baev V, Minkov IN, Tabler M. MicroInspector: a web tool for detection of miRNA binding sites in an RNA sequence. Nucleic Acids Res 2005;33:W696-W700. (Pubitemid 44530013)
18. Edgar RC. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res 2004;32:1792-1797. (Pubitemid 38832724)
19. Jacobson P, Ukkola O, Rankinen T 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 2002;87:4442-4446. (Pubitemid 35247021)
20. Biebermann H, Krude H, Elsner A et al. Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization. Diabetes 2003;52:2984-2988. (Pubitemid 37466869)
21. Govaerts C, Srinivasan S, Shapiro A et al. Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function. Peptides 2005;26:1909-1919. (Pubitemid 41354549)
22. Hinney A, Hohmann S, Geller F 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 2003;88:4258-4267. (Pubitemid 37153729)
23. Larsen LH, Echwald SM, Sørensen TI et al. Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. J Clin Endocrinol Metab 2005;90:219-224. (Pubitemid 40116661)
24. Lubrano-Berthelier C, Le Stunff C, Bougnères P, Vaisse C. A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. J Clin Endocrinol Metab 2004;89:2028-2032. (Pubitemid 38619828)
25. Lubrano-Berthelier C, Dubern B, Lacorte JM et al. Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. J Clin Endocrinol Metab 2006;91:1811-1818.
26. Zhang R, Jia WP, Hu C et al. [Association between melanocortin 4 receptor gene polymorphisms and obesity]. Zhonghua Yi Xue Za Zhi 2007;87:96-99.
27. Calton MA, Ersoy BA, Zhang S et al. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Hum Mol Genet 2009;18:1140-1147.
28. Hinney A, Bettecken T, Tarnow P et al. Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. J Clin Endocrinol Metab 2006;91:1761-1769.
29. Nijenhuis WA, Kruijtzer JA, Wanders N et al. Discovery and in vivo evaluation of new melanocortin-4 receptor-selective peptides. Peptides 2003;24:271-280. (Pubitemid 36369347)
30. Stäubert C, Tarnow P, Brumm H et al. Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. Endocrinology 2007;148:4642-4648. (Pubitemid 47481513)
31. Tao YX, Segaloff DL. Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. Endocrinology 2003;144:4544-4551. (Pubitemid 37204854)
32. Tao YX, Segaloff DL. Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. J Clin Endocrinol Metab 2005;90:5632-5638. (Pubitemid 41415469)
33. Vaisse C, Clement K, Durand E et al. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000;106:253-262. (Pubitemid 30483129)
34. Xiang Z, Litherland SA, Sorensen NB et al. Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. Biochemistry 2006;45:7277-7288. (Pubitemid 43877414)
35. Stutzmann F, Vatin V, Cauchi S et al. Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet 2007;16:1837-1844. (Pubitemid 47244532)
36. Young EH, Wareham NJ, Farooqi S et al. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals. Int J Obes (Lond) 2007;31:1437-1441. (Pubitemid 47339918)
37. Hainerová I, Larsen LH, Holst B et al. Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis. J Clin Endocrinol Metab 2007;92:3689-3696. (Pubitemid 47435357)
38. Cole TJ, Bellizzi MC, Flegal KM, Dietz WH. Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ 2000;320:1240-1243. (Pubitemid 30240471)