Mapping the Human Melanocortin 2 Receptor (Adrenocorticotropic Hormone Receptor; ACTHR) Gene (MC2R) to the Small Arm of Chromosome 18 (18p11.21-pter)

Nc, Vamvakopoulos; Rojas, Katherine; Overhauser, Joan; As, Durkin; Nierman, W.C.; Gp, Chrousos

doi:10.1006/geno.1993.1499

Cited by 28 publications

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“…That hyperstimulation of the adrenals by ACTH could result in adrenocortical tumors was directly suggested by isolated case reports of carcinomas arising 3-36 yr after the diagnosis of classic congenital adrenal hyperplasia (7,22). Recently, the ACTH receptor gene was cloned, and its chromosomal localization and sequence were determined (28,29). The direct sequencing of the ACTH receptor gene did not reveal constitutively activating mutations in two series of sporadic adrenal cortical neoplasms and two cancer cell lines, indicating that this mechanism is not frequent in human adrenocortical tumorigenesis (30,31).…”

Section: Association With Chromosomal Abnormalities and Genetic Syndrmentioning

confidence: 99%

Adrenocortical Tumors*

1997

The Journal of Clinical Endocrinology &Amp; Metabolism

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Section: Association With Chromosomal Abnormalities and Genetic Syndrmentioning

confidence: 99%

Adrenocortical Tumors*

1997

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…The MC2R is a member of the melanocortin receptor family in class A of the seven transmembrane domain G protein-coupled receptors (GPCRs), and signals through the cAMP pathways by stimulating adenylyl cyclase activity. The MC2R maps to 18p11.2 and comprises two exons; exon 1 is untranslated and exon 2 encodes the entire sequence for the MC2R protein (4). Since the first report of MC2R mutation (5), several other mutations in the coding region of this gene have been described in segregation with FGD (for review, see (1)).…”

Section: Introductionmentioning

confidence: 99%

Heterogeneity in the molecular basis of ACTH resistance syndrome.

Collares

Antunes‐Rodrigues²,

Moreira³

et al. 2008

European Journal of Endocrinology

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Objective: ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have been found in segregation with triple A syndrome. We describe the clinical findings and molecular analysis of MC2R, MRAP, and AAAS genes in five Brazilian patients with ACTH resistance syndrome. Design and methods: Genomic DNA from patients and their unaffected relatives was extracted from peripheral blood leucocytes and amplified by PCR, followed by automated sequencing. Functional analysis was carried out using Y6 cells expressing wild-type and mutant MC2R. Results: All five patients showed low cortisol and elevated plasma ACTH levels. One patient had achalasia and alacrima, besides the symptoms of adrenal insufficiency. The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. Expression of p.Gly116Val MC2R mutant in Y6 cells revealed that this variant failed to stimulate cAMP production. The analysis of the AAAS gene in the patient with triple A syndrome showed a novel g.782_783delTG deletion. The molecular analysis of DNA from other two patients showed no mutation in MC2R, MRAP, or AAAS gene. Conclusions: In conclusion, the molecular basis of ACTH resistance syndrome is heterogeneous, segregating with genes coding for proteins involved with ACTH receptor signaling/expression or adrenal gland development and other unknown genes.European Journal of Endocrinology 159 61-68

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“…MC2R was mapped in the human by Gantz et al (1993). Vamvakopoulos et al (1993), and Magenis et al (1994). genes in this synteny group. To address the possible further inversions in chromosome BTA 24 compared with HSA 18, we plan to develop microsatellites around these genes and map them by linkage analysis in reference families.…”

Section: Discussionmentioning

confidence: 99%

Seven genes from human chromosome 18 map to chromosome 24 in the bovine

Larsen

Womack

Kirkpatrick

1996

Cytogenet Genome Res

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Bovine sequence tagged sites (STSs) were developed for seven genes and used for synteny mapping with a hybrid bovine × rodent cell line panel. The genes were thymidylate synthase (TYMS), pituitary adenylate cyclase activating peptide (ADCYAP1), and melanocortin-2 receptor (MC2R) from the short arm of human chromosome (HSA) 18 and N-cadherin (CDH2), transthyretin (TTR), gastrin-releasing peptide (GRP), and plasminogen activator inhibitor 2 (PAI2) from the long arm of HSA 18. Primers for these genes were designed with human, ovine, or bovine sequences aligned with a sequence from a second species. The bovine PCR product was cloned, and the fragment was sequenced to verify that the homologous gene was indeed amplified. A second set of bovine-specific PCR primers were developed for each gene from these sequences. These STSs were used for synteny mapping, and all seven genes were syntenic with markers of bovine chromosome (BTA) 24. The concordance with BTA 24 was at least 96.5 % for all genes.

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Mapping the Human Melanocortin 2 Receptor (Adrenocorticotropic Hormone Receptor; ACTHR) Gene (MC2R) to the Small Arm of Chromosome 18 (18p11.21-pter)

Cited by 28 publications

References 0 publications

Adrenocortical Tumors*

Adrenocortical Tumors*

Heterogeneity in the molecular basis of ACTH resistance syndrome.

Seven genes from human chromosome 18 map to chromosome 24 in the bovine

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