Abstract

It used to be widely accepted that neural tube closure in the human initiates at the level of the future neck and proceeds both cranially and caudally like zip fastener closing. This continuous closure model was recently challenged, and observation of human embryos at the neurulation stage revealed that the closure of the human neural tube initiates at multiple sites. Multi-site closure of the neural tube has been observed in many other animal species, but the initiation sites and the process of neural tube closure are variable among species. Therefore we should be careful when extrapolating the data of normal and abnormal neurulation in laboratory animals to the human. Recent studies in mouse genetics and developmental biology have shown that neural tube defects are quite heterogeneous both etiologically and pathogenetically. Gene mutations responsible for human neural tube defects are largely unknown, but molecular studies of human cases of neural tube defects and their comparison with the mouse genome data should provide a molecular basis for human neural tube defects.

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