LUZP deficiency affects neural tube closure during brain development.

Abstract LUZP is a leucine zipper-containing protein predominantly expressed in the brain. The functional significance of LUZP remains unknown. To explore the role of LUZP in brain development, a knockout mouse strain with a lacZ knock-in ( Luzp- KO/ lacZ- KI) has been established. LacZ reporter expression driven by the endogenous Luzp promoter was detected in the neuroepithelium and the cardiac tissue. Luzp −/− mice exhibited perinatal death, presumably due to the accompanied complex cardiovascular defects. Luzp −/− embryos displayed a cranial neural tube closure defect (NTD), with exposed brain tissues. Ectopic expression of Sonic-hedgehog, which is a protein known to be involved in neural tube closure, and elevated apoptosis were observed in the dorsal lateral neuroepithelium of the NTD Luzp −/− hindbrain. These findings assign a novel function of LUZP in the embryonic development of brain.