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

Phanindra Prasad Poudel, Chacchu Bhattarai, Arnab Ghosh, Sneha Guruprasad Kalthur

Research output: Contribution to journalReview articlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Article number95
JournalEgyptian Journal of Medical Human Genetics
Volume23
Issue number1
DOIs
Publication statusPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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