Cabet Sara, Guibaud Laurent, Sanlaville Damien
Service de génétique, Hospices Civils de Lyon, groupement hospitalier Est, France - Service de radiologie, Hospices Civils de Lyon, groupement hospitalier Est, 59 boulevard Pinel, 69677 Bron Cedex, France.
Service de radiologie, Hospices Civils de Lyon, groupement hospitalier Est, 59 boulevard Pinel, 69677 Bron Cedex, France.
Med Sci (Paris). 2020 Oct;36(10):866-871. doi: 10.1051/medsci/2020157. Epub 2020 Oct 7.
Pathogenic variants of the gene NDE1 (Nuclear Distribution Element 1) in humans lead to microlissencephaly which associates a reduced head circumference and a simplified gyration. Microlissencephaly is the most severe deficit of neurogenesis described to date but its precise physiopathological mechanism is not yet well known. The NDE1 gene encodes a phosphoprotein that is essential to neurogenesis and that is expressed in various cell compartments of neuroblasts. More than 60 interaction partners with NDE1 have been reported, notably various proteins involved in formation of the mitotic spindle, in ciliation, in genome protection of dividing neuroblasts or even in apoptosis (like LIS1, dynein or cohesin), which are all avenues that we explore in this review.
人类NDE1基因（核分布元件1）的致病性变异会导致小脑回畸形，其特征为头围减小和脑回简化。小脑回畸形是迄今为止所描述的最严重的神经发生缺陷，但其确切的生理病理机制尚不清楚。NDE1基因编码一种对神经发生至关重要的磷蛋白，该蛋白在神经母细胞的各种细胞区室中表达。已报道了60多种与NDE1相互作用的蛋白，特别是参与有丝分裂纺锤体形成、纤毛形成、分裂神经母细胞的基因组保护甚至细胞凋亡的各种蛋白（如LIS1、动力蛋白或黏连蛋白），这些都是我们在本综述中探讨的途径。
