Drosophila Models Of Human Brain Basal Ganglia Calcification Pathogenic Gene SLC20A2

Idiopathic basal ganglia calcification(IBGC) is a congenital human neurological disease, also known as Fahr disease. The basal ganglia and other brain regions of the patients show symmetrical calcification. Up to now, the international collaborative research team has successfully found and cloned the first IBGC pathogenic gene SLC20A2which encodes a transmembrane protein named phosphate transporter2(PiT2) and related to the transmembrane transport of inorganic phosphorus.CG42575(dSLC20A2) is the SLC20A2homolog in Drosophila. Located on chromosome III, dSLC20A2is about11kb. It encodes a sodium-dependent phosphate transporter transmembrane protein which composed of667amino acids. The identity between human PiT2and Drosophila SLC20A2is up to42%.In order to provide more references for the research of IBGC, we generated a series of constructions, including site-directed mutant, deleted mutant, null mutant and overexpression of GFP tagged dSLC20A2.We have obtained four stocks contained the same mutation to human IBGC by using site-directed mutagenesis and microinjection method. We also found dSLC20A2localized in the brain and neuromuscular junction(NMJ) of Drosophila3rd instar larva by overexpressing the GFP tagged dSLC20A2. Neuronal overexpression of dSLC20A2-S588W could result in the neuromuscular junction development defects.This Drosophila models of the IBDG will provide an important tool to dissect in vivo function of dSLC20A2especially the function in the nervous system.