Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

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.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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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17.

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

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18.

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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19.

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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20.

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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21.

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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22.

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

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23.

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

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24.

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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25.

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

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26.

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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27.

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

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28.

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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29.

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

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30.

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

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31.

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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32.

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

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33.

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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34.

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

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35.

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

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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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