Abstract:
The roles,the basic structure and the rare mutations in human neural tube defects(NTDs) were invesitaged of the six core proteins in the planar cell polarity(PCP) pathway(Frizzled,Flamingo,Vangl,Dishevelled,Prickle and Diego).It has been revealed that upon stimulation from Wnt signaling pathway,these six proteins formed a membrane complex with asymmetric localization and determined the planar cell polarity of neuron cells via downstream Rho/Rac signaling pathway during neural tube closure.Up to now,several specific missense mutations have been identified in Frizzled,Vangl,Flamingo and Prickle genes,SNP site alterations have also been found in Dishevelled gene,but mutations in Diego gene is still unknown.In the future,great efforts should be made to elucidate how these core genes interact with environment factors in PCP pathway,and how SNP sites or mutation of core genes influence their protein functions which may then participate in neural tube defects.
