Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Melanocortin-Rezeptor 4

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autosomal dominante Adipositas
MC4R

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
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.

external link
6.

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

external link
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.

external link
8.

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

external link
9.

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

external link
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.

external link
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.

external link
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.

external link
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.

external link
14.

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

external link
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.

external link
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.

external link
17.

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

external link
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.

external link
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.

external link
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.

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
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.

external link
38.

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

external link
39.

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

external link
40.

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

external link
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.

external link
42.

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

external link
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.

external link
44.

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

external link
45.

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

external link
46.

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

external link
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 Artikel

Wikipedia DE (Melanocortin-4-Rezeptor) external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum