Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Melanocortin-Rezeptor 4

Das MC4R-Gen kodiert ein G-Protein gekoppelten Melanocortin-Rezeptor, der auch ACTH binden kann. Mutationen führen zu autosomal dominanter Fettsucht.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autosomal dominante Adipositas
MC4R

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

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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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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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21.

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

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22.

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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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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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29.

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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30.

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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31.

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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32.

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

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33.

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

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34.

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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35.

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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36.

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

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37.

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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38.

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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39.

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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40.

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

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41.

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

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42.

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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43.

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

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44.

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

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45.

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

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46.

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

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