AVPR2是肾性尿崩症的致病基因，身材矮小是尿崩症主要临床特征之一，最新研究显示AVPR2是参与骨重建的重要基因。由于骨发育进行生长、骨重建，骨重建的异常可导致身材矮小，因此AVPR2可能影响骨重建过程与功能，在骨发育过程中发挥直接作用。前期研究中，我们在一个X连锁的肾性尿崩症家系中发现包含AVPR2基因和部分ARHGAP4基因的一个新的22.1kb大片段缺失，身材矮小是该家系的主要临床特征，PCR证实AVPR2在MC3T3-E1和RAW264.7中高表达，我们拟通过基因功能学等相关研究，系统地寻找与受AVPR2调控的下游基因，研究AVPR2表达与否对骨重建相关细胞的影响，筛选可能与AVPR2相互作用的分子，构建与AVPR2相关的信号通路及基因调控网络；鉴定、分析受AVPR2调控基因所编码的蛋白，研究AVPR2介导骨重建的分子机制，以期阐明AVPR2在骨重建过程及身材矮小发生的生物学效应。

Nephrogenic diabetes insipidus (NDI) is caused by mutations in arginine vasopressin type 2 receptor (AVPR2), short stature is one of common features in NDI cases. AVPR2 is active functionally in regulating bone mass.The study suggests AVPR2 may play an important role in bone remodeling and be involved in the important pathophysiological mechanisms of short stature. In previous work, we reported a Chinese family with NDI caused by a novel 22.1-kb deletion comprising the entire AVPR2 locus and part of the Rho GTPase-activating protein 4 (ARHGAP4) locus and short stature is the main clinical characterization. We study that MC3T3-E1 cell and RAW264.7 cell expressed AVPR2 as did the kidney. In present study, to illuminate the biological mechanism of AVPR2 in the development of bone remodeling, we will find and validate more genes that were detected by the whole genome expression profiling and try to confirm which genes are really controlled by the expression of AVPR2. And we will identify and analysis the function of proteins which are encoded by the genes that are effected by AVPR2. Then, we will evaluate the effect of AVPR2 on the cell biological features . Lastly, by using GST-pulldown and systems biology methods, we will find the binding protein of AVPR2. In order to clarify the biological effects of AVPR2 during the development of bone remodeling and short stature, and identify potential diagnostic markers and intervention targets.