Gene polymorphisms and their effects in the melanocortin system.
In addition to its role in human pigmentation, components of the melanocortin system regulate appetite, energy homeostasis and hormone production. Recent studies have suggested possible roles of this system in immunity, transmission of pain signals, and reproductive potential. A number of polymorphisms have been identified in genes of the melanocortin system and are associated with pigmentation in humans, as well as being causative of disorders of adrenal hormone production and obesity. This review gives an outline of these polymorphisms, their functional significance and possible application to or impact on diagnosis and pharmacotherapy based on melanocortin pathways.
CRC for Diagnostics, Level 5, Q Block, Queensland University of Technology, 2 George St, Brisbane 4000, Australia.
Levi
L
Carroll
Joanne
J
Voisey
Angela
A
van Daal
D000595:Amino Acid Sequence; D000818:Animals; D001835:Body Weight / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008969:Molecular Sequence Data; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D011110:Polymorphism, Genetic / Q000502:physiology; D044101:Receptors, Melanocortin / Q000737:chemistry / Q000235:genetics* / Q000502:physiology
D044101:Receptors, Melanocortin