<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomalies.

ABSTRACT:

Background

Previous studies in mouse, Xenopus and zebrafish embryos show strong tfap2e expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 (TFAP2E) in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.

Methods

Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies. Exome variant prioritisation prompted TFAP2E gene for functional analysis in zebrafish embryos. Embryonic morphology and development were assessed after antisense morpholino (MO) knockdown (KD), CRISPR/Cas9 knockout and overexpre

SUBMITTER: Kalanithy JC 

PROVIDER: S-EPMC11777392 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature