Tao Ya-Xiong
Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, AL 36849, USA.
Mol Cell Endocrinol. 2005 Jul 15;239(1-2):1-14. doi: 10.1016/j.mce.2005.04.012.
The neural melanocortin receptors, melanocortin-3 and -4 receptors (MC3R and MC4R), have been shown to regulate different aspects of energy homeostasis in rodents. Human genetic studies showed that mutations in the MC4R gene are the most common monogenic form of obesity. Functional analyses of the mutant receptors revealed multiple defects. A classification scheme is presented for cataloguing the ever-increasing array of MC4R mutations. Functional analysis of the only inactivating MC3R mutation is also summarized. Insights from the analyses of the naturally occurring mutations in the MC3R and MC4R on the structure and function of these receptors are highlighted.
神经黑素皮质素受体，即黑素皮质素-3和-4受体（MC3R和MC4R），已被证明可调节啮齿动物能量平衡的不同方面。人类遗传学研究表明，MC4R基因的突变是肥胖最常见的单基因形式。对突变受体的功能分析揭示了多种缺陷。本文提出了一种分类方案，用于对日益增多的MC4R突变进行编目。还总结了对唯一失活的MC3R突变的功能分析。重点介绍了对MC3R和MC4R自然发生突变的分析对这些受体结构和功能的启示。
