Pro-opiomelanocortin
The POMC gene encodes a prohormone which is in a tissue specific manner cleaved in different active hormones. Mutations cause early-onset obesity or adrenal insufficiency with redhairedness and obesity.
Genetests:
Related Diseases:
References:
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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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Fan W et al. (1997) Role of melanocortinergic neurons in feeding and the agouti obesity syndrome.
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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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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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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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Echwald SM et al. (1999) Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity.
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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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Fehm HL et al. (2001) The melanocortin melanocyte-stimulating hormone/adrenocorticotropin(4-10) decreases body fat in humans.
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9. |
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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Cowley MA et al. (2001) Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus.
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Heisler LK et al. (2002) Activation of central melanocortin pathways by fenfluramine.
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Pascual-Le Tallec L et al. (2002) Identification of genes associated with the corticotroph phenotype in bronchial carcinoid tumors.
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LEE TH et al. (1961) On the structure of human corticotropin (adrenocorticotropic hormone).
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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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Baker M et al. (2005) Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.
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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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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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Parton LE et al. (2007) Glucose sensing by POMC neurons regulates glucose homeostasis and is impaired in obesity.
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Padilla SL et al. (2010) Pomc-expressing progenitors give rise to antagonistic neuronal populations in hypothalamic feeding circuits.
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Koch M et al. (2015) Hypothalamic POMC neurons promote cannabinoid-induced feeding.
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Owerbach D et al. (1981) The proopiocortin (adrenocorticotropin/beta-lipoprotein) gene is located on chromosome 2 in humans.
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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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Mineur YS et al. (2011) Nicotine decreases food intake through activation of POMC neurons.
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Balthasar N et al. (2004) Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis.
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Kitamura T et al. (2006) Forkhead protein FoxO1 mediates Agrp-dependent effects of leptin on food intake.
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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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Yaswen L et al. (1999) Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.
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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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Chrétien M et al. (1979) From beta-lipotropin to beta-endorphin and 'pro-opio-melanocortin'.
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Feder J et al. (1985) DNA restriction fragment analysis of the proopiomelanocortin gene in schizophrenia and bipolar disorders.
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Lewis ME et al. (1986) Detection of proopiomelanocortin mRNA by in situ hybridization with an oligonucleotide probe.
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Lacaze-Masmonteil T et al. (1987) Characterization of proopiomelanocortin transcripts in human nonpituitary tissues.
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Yamashiro D et al. (1973) Adrenocorticotropins. 44. Total synthesis of the human hormone by the solid-phase method.
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Bennett HP et al. (1973) Confirmation of the 1-20 amino acid sequence of human adrenocorticotrophin.
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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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Chang AC et al. (1980) Structural organization of human genomic DNA encoding the pro-opiomelanocortin peptide.
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Eipper BA et al. (1980) Structure and biosynthesis of pro-adrenocorticotropin/endorphin and related peptides.
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Feder J et al. (1983) A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.
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Cochet M et al. (1982) Characterization of the structural gene and putative 5'-regulatory sequences for human proopiomelanocortin.
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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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Orphanet article
Orphanet ID 123421
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NCBI article
NCBI 5443
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OMIM.ORG article
Omim 176830
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Wikipedia article
Wikipedia EN (Proopiomelanocortin)
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Update: Aug. 14, 2020