Magenis R E, Smith L, Nadeau J H, Johnson K R, Mountjoy K G, Cone R D
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
Mamm Genome. 1994 Aug;5(8):503-8. doi: 10.1007/BF00369320.
The melanocortin peptides regulate a wide variety of physiological processes, including pigmentation and glucocorticoid production, and also have several activities in the central and peripheral nervous systems. The melanocortin receptor family includes the melanocyte-stimulating hormone receptor (MSH-R), adrenocorticotropic hormone receptor (ACTH-R), and two neural receptors, MC3-R and MC4-R. In the human these receptors map to 16q24 (MSH-R), 18p11.2 (ACTH-R), 20q13.2 (MC3-R), and 18q22 (MC4-R). The corresponding locations in the mouse are 8, 18, and 2; a variant for mapping MC4-R has not yet been identified. The data reported here also show that the neural MC3 receptor maps close to a disease locus for benign neonatal epilepsy in human and near the E1-2 epilepsy susceptibility locus in the mouse.
黑皮质素肽调节多种生理过程,包括色素沉着和糖皮质激素的产生,并且在中枢和外周神经系统中也具有多种活性。黑皮质素受体家族包括促黑素细胞激素受体(MSH-R)、促肾上腺皮质激素受体(ACTH-R)以及两种神经受体,即MC3-R和MC4-R。在人类中,这些受体分别定位于16q24(MSH-R)、18p11.2(ACTH-R)、20q13.2(MC3-R)和18q22(MC4-R)。在小鼠中的相应位置分别是8、18和2;尚未确定用于定位MC4-R的变体。此处报告的数据还表明,神经MC3受体的定位接近人类良性新生儿癫痫的一个疾病位点,并且靠近小鼠的E1-2癫痫易感性位点。