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Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects 

Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects
Chapter:
Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects
Author(s):

Elena Torban

, Alexandra Iliescu

, and Philippe Gros

DOI:
10.1093/med/9780199934522.003.0045
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date: 28 February 2021

In the mammalian genome, there exist two VAN GOGH-Like genes, designated VANGL1 and VANGL2. VANGL1 and VANGL2 are membrane proteins that share structural similarity and functional relationship with a Drosophila melanogaster protein named Van Gogh (Vang). Vang belongs to a small group of so-called planar cell polarity (PCP) proteins, that form membrane-bound multi-protein complexes involved in establishing the polarity of certain epithelial structures and associated cellular appendages in the fly. In the mouse, Vangl1 and Vangl2 proteins are expressed during embryogenesis in many tissues and cell types, where they provide positional information for proper development of different epithelial structures and for patterning of variety of tissues. Mouse Vangl proteins are required for fundamental cellular processes such as asymmetric cell division, convergent extension movements, and positioning and function of motile cilia. Mouse Vangl1 and Vangl2 mutants display neural tube defects (craniorachischisis) and abnormalities in other organs. In humans, mutations in VANGL1 have been identified in familial and sporadic cases of meningomyelocele and in other non-syndromic cases of neural tube defects (NTDs). Likewise, human VANGL2 mutations have been identified in fetuses displaying craniorashischisis and other severe forms of neural tube defects. Studies in animal models in vivo and in transfected cells in vitro have clarified the mechanistic basis for loss-of-function observed in NTD-associated VANGL protein variants.

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