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Center for Nephrology and Metabolic Disorders
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Melanocortin receptor 4

The MC4R gene encodes a G-coupled melanocortin receptor that also binds ACTH. Mutations cause autosomal dominant obesity.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autosomal dominant obesity
MC4R

References:

1.

Valli-Jaakola K et al. (2004) Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

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2.

Brocke KS et al. (2002) The human intronless melanocortin 4-receptor gene is NMD insensitive.

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3.

Heisler LK et al. (2002) Activation of central melanocortin pathways by fenfluramine.

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4.

Van der Ploeg LH et al. (2002) A role for the melanocortin 4 receptor in sexual function.

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5.

Jacobson P et al. (2002) Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.

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6.

Lubrano-Berthelier C et al. (2003) Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

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7.

Yeo GS et al. (2003) Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

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8.

Nijenhuis WA et al. (2003) Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.

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9.

Xu B et al. (2003) Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor.

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10.

Hinney A et al. (2003) 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.

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11.

Donohoue PA et al. (2003) Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.

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12.

Santini F et al. (2004) Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.

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13.

Dubern B et al. (2001) Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

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14.

Lubrano-Berthelier C et al. (2004) A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

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15.

Larsen LH et al. (2005) Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

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16.

Tao YX et al. (2005) Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.

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17.

Balthasar N et al. (2005) Divergence of melanocortin pathways in the control of food intake and energy expenditure.

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18.

Hinney A et al. (2006) Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

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19.

Lubrano-Berthelier C et al. (2006) 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.

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20.

Hainerová I et al. (2007) Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

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21.

Mineur YS et al. (2011) Nicotine decreases food intake through activation of POMC neurons.

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22.

Lim BK et al. (2012) Anhedonia requires MC4R-mediated synaptic adaptations in nucleus accumbens.

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23.

Ghamari-Langroudi M et al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

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24.

Ste Marie L et al. (2000) A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors.

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25.

Sina M et al. (1999) Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene.

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26.

Farooqi IS et al. (2003) Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

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27.

Branson R et al. (2003) Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.

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28.

List JF et al. (2003) Defective melanocortin 4 receptors in hyperphagia and morbid obesity.

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29.

Hebebrand J et al. (2004) Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.

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30.

Chambers JC et al. (2008) Common genetic variation near MC4R is associated with waist circumference and insulin resistance.

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31.

Loos RJ et al. (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity.

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32.

Willer CJ et al. (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

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33.

Hardy R et al. (2010) Life course variations in the associations between FTO and MC4R gene variants and body size.

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34.

Magenis RE et al. (1994) Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.

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35.

Gantz I et al. (1993) Molecular cloning, expression, and gene localization of a fourth melanocortin receptor.

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36.

Huszar D et al. (1997) Targeted disruption of the melanocortin-4 receptor results in obesity in mice.

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37.

Sundaramurthy D et al. (1998) Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping.

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38.

Yeo GS et al. (1998) A frameshift mutation in MC4R associated with dominantly inherited human obesity.

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39.

Vaisse C et al. (1998) A frameshift mutation in human MC4R is associated with a dominant form of obesity.

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40.

Marsh DJ et al. (1999) Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides.

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41.

Hinney A et al. (1999) Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

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42.

Cody JD et al. (1999) Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q.

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43.

Kim KS et al. (2000) A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits.

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44.

Cummings DE et al. (2000) Melanocortins and body weight: a tale of two receptors.

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45.

Chen AS et al. (2000) Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.

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46.

Mergen M et al. (2001) A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.

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47.

NCBI article

NCBI 4160 external link
48.

OMIM.ORG article

Omim 155541 external link
49.

Orphanet article

Orphanet ID 168091 external link
50.

Wikipedia article

Wikipedia EN (Melanocortin_4_receptor) external link
Update: Aug. 14, 2020
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