Disease relevance of MC4R

• The melanocortin 4 receptor (MC4R) is a key factor in the regulation of energy balance and body weight [1].
• The melanocortin-4 receptor (MC4R) has a vital role in the control of energy balance and the genetic basis of obesity [2].

High impact information on MC4R

• This methodology was then used to test the effects of the fourth melanocortin receptor (MC4R) on production traits in the pig [3].
• An effect of a missense mutation in the porcine melanocortin-4 receptor (MC4R) gene on production traits in Polish pig breeds is doubtful [4].
• In a previously performed genome scan based on a Hampshire x Landrace cross, we detected one quantitative trait loci (QTL) affecting carcass fat/meat ratio and one QTL affecting the biceps femoris muscle, both close to the position of MC4R on porcine chromosome 1 [5].
• The aim of this study was to analyse the combined effect of melanocortin 4 receptor (MC4R) and high mobility group AT-hook 1 (HMGA1) polymorphisms on growth and fatness traits in Duroc pigs [6].
• Evaluation of the porcine melanocortin 4 receptor (MC4R) gene as a positional candidate for a fatness QTL in a cross between Landrace and Hampshire [5].

Biological context of MC4R

• The MC4R was assigned to the expected region on pig chromosome 1 [7].
• Melanocortin-4 receptor (MC4R) genotypes have no major effect on fatness in a Large White x Wild Boar intercross [7].
• Functional analysis of the porcine MC4R variant was performed with an in vitro gene expression system in 293 cells [8].
• The melanocortin-4 receptor (MC4R), a G protein-coupled seven-transmembrane receptor, which is expressed in the brain, plays an important role in the control of mammalian energy homeostasis [8].

Associations of MC4R with chemical compounds

• A polymorphism, which results in the replacement of aspartic acid with asparagine at position 298 of the porcine MC4R gene, within the seventh transmembrane domain, has previously been described [2].
• These findings revealed that a single missense mutation (Asp298Asn) of aspartic acid (Asp) to asparagine (Asn) in MC4R gene decreased cAMP content and MC4R signaling, but with no difference in the ligand binding was associated with growth and feed intake traits in domestic pigs [8].

Other interactions of MC4R

• The mutant Asn298 allele of the MC4R gene was significantly associated with increased test daily gain, higher lean meat percentage and lower backfat thickness [9].

References