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Validated All-in-One™ qPCR Primer for MC4R(NM_005912.2) Search again
Product ID:
HQP011097
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BMIQ20
Gene Description:
melanocortin 4 receptor
Target Gene Accession:
NM_005912.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Gene References into function
- Because it has no introns, the gene is insensitive to the normal degradation of mRNA's with premature termination codons.
- molecular determinants responsible for antagonist SHU9119 selective activity
- MC4R obesity causing mutations in less than 0.5% of the patients indicate low prevalence of MC4R variants in the obese population from southern Italy
- Identification of domains directing specificity of coupling to G-proteins
- MC4R mutation screen in bulimia nervosa patients
- the function of the MC1 and MC4 receptors can be positively modulated by metal ions acting both as partial agonists and as potentiators for other agonists
- results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity
- Heterozygous mutations in the coding region of the serpentine Melanocortin 4 receptor are the most common genetic cause of human obesity .
- the impact of the MC4R mutations on receptor function and for the development of obesity
- beta-MSH rather than alpha-MSH is the key ligand at the MC4-R populations that regulate feeding, and inhibition of tonic release of beta-MSH is one mechanism contributing to hunger in under-feeding
- The second and third extracellular loops of MC4R are important for AGRP 87-132 N-terminal binding, whereas the third and fourth transmembrane domains of hMC4R are crucial for AGRP 110-117 binding.
- Six of 11 mutants had either decreased or no ligand binding, with proportional impairments in [Nle4, d-Phe7]-alpha-MSH-stimulated cAMP production.
- Melanocortin-4 receptor gene mutations represent major gene effects for obesity
- A three-dimensional structure of the human melanocortin 4 receptor (hMC4R) is constructed in this study using a computer-aided molecular modeling approach.
- identification of missense mutation in patients with early onset obesity
- unlocking of a stabilizing interaction between the DRY motif, in the cytosolic part of transmembrane region TM3, and TM6 is important for the activation process; unlocking may be facilitated by creation of a new interaction between TM3 and TM2
- Genetic variation in the transcriptionally essential region of the MC4R promoter is not a significant cause of severe obesity in humans.
- A novel heterozygous missense mutation (Glu(308)Lys) that impairs MC4-R functional activity in vitro was characterized.
- Pathogenic MC4R mutation was found among subjects with severe early-onset obesity but not among morbidly obese adults. Impaired function of S127L receptor due to reduced activation.
- No evidence for an increased rate of binge-eating behavior in obese carriers of MC4R variants.
- In humans, MC4R mediates most anorectic effects of leptin in early childhood. Does not mediate effect of leptin on linear growth and other endocrine axes. MC4R deficiency not cause of relative hyperinsulinemia.
- While no MC4R ligand binding was detected in any of the mutants studied, one mutant, D146A, resulted in higher cAMP production in cells than the wild-type receptor without ligand stimulation
- the Val103Ile polymorphism of the melanocortin-4 receptor (MC4R) gene is associated with energy expenditure in humans
- Variations in MC4R may account for a small portion of obesity in Pima Indians.
- findings clearly substantiate that MC4R mutations entail a strong predisposition to obesity
- Outlining the ligand recognition sites in the melanocortin receptors.
- Results suggest that the tonic satiety signal provided by the constitutive activity of the melanocortin-4 receptor may be required for maintaining long-term energy homeostasis in humans.
- DNA sequence analysis of the conformers of melanocortin-4 receptor (MC4R) revealed variants in premature pubarche and hyperandrogenism.
- Data demonstrate that the constitutive activity of the human melanocortin-4 receptor promoter is dependent upon Sp1 and 3 transcription factors.
- The proximal region of the melanocortin-4 receptor (MC4R) carboxyl-terminus is crucial not only for receptor signaling but also for ligand binding, while the third intracellular loop is important mainly for receptor signaling.
- Novel MC4R variant identified from an obese patient cannot be assumed to be the cause of obesity without demonstrating a loss-of-function phenotype
- Dermal papilla cells expressed both MC1R and MC4R in vitro, and immunoreactivity for these receptors was also present in cells of the human dermal papilla in situ.
- Systematic and comparative functional study of over 50 different obesity-associated MC4R mutations highlighted in this review suggests that multiple functional alterations contribute to their pathogenicity.
- Binding affinity and potency of the linear peptide agonists, while site directed mutation impaired interactions with nonpeptide agonists.
- Melanocortin 4 receptor (MC4R) residue leucine-250 is proposed as a key role-player in switching MC4R from active to inactive receptor conformation.
- CART signaling is the main molecular pathway accounting for the decrease in bone resorption leading to high bone mass in mice and humans deficient in Mc4r
- A MC4R promoter mutation, -439delGC, associated with early-onset obesity.
- analysis of molecular basis of melanocortin-4 receptor for AGRP inverse agonism
- in addition to its inverse agonistic activities, Agrp exhibits agonistic properties on the endocytosis pathway of melanocortin-3 and -4 receptors
- Two novel heterozygous non-synonymous mutations (Val166Ile; Arg310Lys) and a novel heterozygous non-sense mutation (Cys277Stop) in the melanocortin 4 receptor were detected in Chinese obese individuals.
- Our data show for the first time that active immunization of rats against the NT sequence of the MC4-R results in specific Abs, which appear to stimulate food intake by acting as inverse agonists in the hypothalamus.
- Individuals carrying the isoleucine allele of MC4R had an 18% (95% confidence interval 4-30%, P=0.015) lower risk of obesity compared with non-carriers.
- The D298N mutation identified, for the first time, differential structural requirements of the MC4 receptor for activation of the cAMP and p44/42 MAPK pathways.
- No mutation or polymorphism was detected in the MC4R gene despite thorough sequencing of the entire coding region including exon-intron boundary.
- Further structure-activity studies of lactam derivatives of MT-II and SHU-9119 were made at MC4R.
- The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for the development of obesity.
- Found a homozygous 2-base pair deletion (del 346-347AG) leading to a stop codon. This new mutation leads to a truncated MC4R after the second transmembrane domain in a patient with severae early-onset obesity.
- the importance of the MC4R signalling tonus to prevent obesity, even in the context of our current obesogenic environment.
- Conserved sequences in the melanocortin-4 receptor are involved in alpha-melanocyte-stimulating hormone binding and signaling.
- Prevalence of 2.4% of MC4R homozygous and heterozygous mutations among Czech obese children.
- Identification of ligands possessing agonist potency with hMC4R polymorphisms.
- The aim of this study was to investigate the molecular mechanism of human MC4R activation by [Nle4, d-Phe7]alpha-melanocyte-stimulating hormone (NDP-MSH).
- series of pyrrolidinones derived from phenylalaninepiperazines were synthesized and characterized as potent and selective antagonists of the melanocortin-4 receptor
- These results suggest that the i3 loop of MC4R is essential not only for the functional activity but also for the regulation and maintenance of an optimal constitutive activity of MC4R in the control of energy homeostasis.
- The MC4R V103I polymorphism plays a role in appetite regulation that not only affects BMI, but also other features of the metabolic syndrome. The association of the MC4R V103I with obesity and related phenotypes is genuine.
- Heterozygotes for the 103Ile-allele are not more prone to develop cancer cachexia than patients without this allele.
- Single nucleotide polymorphism in MC4R gene is associated with waist circumference and insulin resistance
- Common variants near MC4R and thus altered MC4R functions are associated with fat mass, weight and risk of obesity
- present study shows that genetic variants in the MC4R promoter are associated with the development of infantile spasms. The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.
- We have established a robust estimate of age-related penetrance for MC4R deficiency and demonstrated a generational effect on penetrance, which may relate to the development of an "obesogenic" environment
- the common SNP rs17782313 near MC4R gene was significantly associated with higher intakes of total energy and dietary fat; in addition, the SNP was related to greater long-term weight change and increased risk of diabetes in women
- ADHD in obese MC4R deficient subjects: a newly described expression of MC4R deficiency.
- The higher dietary intake of carbohydrates in severely obese persons with the MC4R 103I variant is in line with previous findings which may effect body size in extreme obesity.
- A combination of functional studies and structural modeling of naturally occurring pathogenic mutations in MC4R can provide valuable information regarding the molecular mechanism of MC4R activation and its dysfunction in obesity.
- Initial structural data obtained by solution NMR measurements is presented
- Pima Indians heterozygous for R165Q or an insertion at nucleotide 100 have higher body mass index and lower energy expenditure as a componenet of increased adiposity.
- An important role for the beta-MSH/MC4-R cascade in human melanocyte biology.
- The spectrum of mutations in humans, combined with the overall low level of diversity, suggests that most (if not all) of the observed non-synonymous polymorphisms are likely to be transient deleterious mutations.
- Variations in MC4R associate with measures of obesity in Danish individuals.
- The prevalence of hypertension was markedly lower in the MC4R-deficient subjects than in the control subjects (24% vs. 53%, P=0.009)
- In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene).
- the functional mutations in the melanocortin 4 receptor gene have an important impact in body mass index and in obesity