Role of engrailed homeobox 2 (EN2) gene in the development of the cerebellum and effects of its altered and ectopic expressions

Document Type

Article

Publication Title

Egyptian Journal of Medical Human Genetics

Abstract

Background: Morphological organization, folial pattern formation and establishment of the neural circuitry within the cerebellum are the important events taking place during the development of the cerebellum. Expression of engrailed homeobox 2 (EN2) gene plays an essential role in taking place of these events in the developing cerebellum. Main body: A search was performed by following the PRISMA guidelines to review the role of the EN2 gene in the development of the cerebellum. Human and animal in vivo and in vitro studies showed that expression of the EN2 gene maintains the normal development of the cerebellum, morphological organization, cerebellar foliation, fissure formation, establishment of the afferent topography, molecular pattern formation and patterned gene expression in the developing cerebellum. Altered expression of the EN2 gene changes the morphology and folial pattern of the cerebellum, whereas its activation rescues these defects. EN2 gene polymorphism is reported as a susceptible cause for autism spectrum disorder (ASD). Ectopic expression of EN2 gene may result cancer and it also may play anti-oncogenic role depending on the organ of its expression. Conclusion: Expression of the EN2 gene is essential for the normal development of the cerebellum. Its altered expression results deformed cerebellum, polymorphysm is associated with autism and ectopic expression may results cancer.

DOI

10.1186/s43042-022-00307-8

Publication Date

12-1-2022

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