Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Proopiomelanocortin

Das POMC-Gen kodiert ein Prohormon, welches nach Spaltung in unterschiedlich biologisch wirksame Hormone umgewandelt wird. Mutationen führen zu einer frühzeitig einsetzenden Adipositas oder zu einer adrenalen Insuffizienz mit Rothaarigkeit und 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:

Adrenale Insuffizienz mit Erythrotrichie und Fettsucht aufgrund von POMC-Mangel
POMC
Frühzeitig einsetzende Adipositas
NR0B2
POMC

Referenzen:

1.

Comuzzie AG et al. (1997) A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2.

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2.

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

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3.

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

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4.

Balthasar N et al. (2004) Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis.

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5.

Kitamura T et al. (2006) Forkhead protein FoxO1 mediates Agrp-dependent effects of leptin on food intake.

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6.

Krude H et al. (1998) Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.

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7.

Yaswen L et al. (1999) Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.

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8.

Krude H et al. (2003) Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

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9.

Chrétien M et al. (1979) From beta-lipotropin to beta-endorphin and 'pro-opio-melanocortin'.

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10.

Feder J et al. (1985) DNA restriction fragment analysis of the proopiomelanocortin gene in schizophrenia and bipolar disorders.

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11.

Lewis ME et al. (1986) Detection of proopiomelanocortin mRNA by in situ hybridization with an oligonucleotide probe.

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12.

Lacaze-Masmonteil T et al. (1987) Characterization of proopiomelanocortin transcripts in human nonpituitary tissues.

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13.

Yamashiro D et al. (1973) Adrenocorticotropins. 44. Total synthesis of the human hormone by the solid-phase method.

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14.

Bennett HP et al. (1973) Confirmation of the 1-20 amino acid sequence of human adrenocorticotrophin.

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15.

Zabel BU et al. (1983) High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.

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16.

Chang AC et al. (1980) Structural organization of human genomic DNA encoding the pro-opiomelanocortin peptide.

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17.

Eipper BA et al. (1980) Structure and biosynthesis of pro-adrenocorticotropin/endorphin and related peptides.

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18.

Feder J et al. (1983) A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.

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19.

Cochet M et al. (1982) Characterization of the structural gene and putative 5'-regulatory sequences for human proopiomelanocortin.

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20.

Owerbach D et al. (1981) The proopiocortin (adrenocorticotropin/beta-lipoprotein) gene is located on chromosome 2 in humans.

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21.

Robbins LS et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.

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22.

Fan W et al. (1997) Role of melanocortinergic neurons in feeding and the agouti obesity syndrome.

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23.

Satoh H et al. (1997) Subregional assignment of the proopiomelanocortin gene (POMC) to human chromosome band 2p23.3 by fluorescence in situ hybridization.

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24.

Aberdam E et al. (1998) Involvement of microphthalmia in the inhibition of melanocyte lineage differentiation and of melanogenesis by agouti signal protein.

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25.

Hinney A et al. (1998) Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes.

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26.

Echwald SM et al. (1999) Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity.

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27.

Newell-Price J et al. (2001) The CpG island promoter of the human proopiomelanocortin gene is methylated in nonexpressing normal tissue and tumors and represses expression.

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28.

Fehm HL et al. (2001) The melanocortin melanocyte-stimulating hormone/adrenocorticotropin(4-10) decreases body fat in humans.

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29.

None (2001) Clinical review 127: Obesity as a neuroendocrine disease: lessons to be learned from proopiomelanocortin and melanocortin receptor mutations in mice and men.

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30.

Cowley MA et al. (2001) Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus.

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31.

Challis BG et al. (2002) A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.

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32.

Pascual-Le Tallec L et al. (2002) Identification of genes associated with the corticotroph phenotype in bronchial carcinoid tumors.

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33.

LEE TH et al. (1961) On the structure of human corticotropin (adrenocorticotropic hormone).

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34.

Santoro N et al. (2004) An insertional polymorphism of the proopiomelanocortin gene is associated with fasting insulin levels in childhood obesity.

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35.

Baker M et al. (2005) Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.

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36.

Bilodeau S et al. (2006) Role of Brg1 and HDAC2 in GR trans-repression of the pituitary POMC gene and misexpression in Cushing disease.

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37.

Gao Q et al. (2007) Anorectic estrogen mimics leptin's effect on the rewiring of melanocortin cells and Stat3 signaling in obese animals.

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38.

Parton LE et al. (2007) Glucose sensing by POMC neurons regulates glucose homeostasis and is impaired in obesity.

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39.

Padilla SL et al. (2010) Pomc-expressing progenitors give rise to antagonistic neuronal populations in hypothalamic feeding circuits.

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40.

Koch M et al. (2015) Hypothalamic POMC neurons promote cannabinoid-induced feeding.

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41.

Orphanet article

Orphanet ID 123421 [^]
42.

NCBI article

NCBI 5443 [^]
43.

OMIM.ORG article

Omim 176830 [^]
44.

Wikipedia Artikel

Wikipedia DE (Proopiomelanocortin) [^]
Update: 9. Mai 2019