Apr 8, 2020

Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk

Development
SungKyoung LeeRuss P Carstens

Abstract

Cleft lip is one of the most common human birth defects. However, there remain a limited number of mouse models of cleft lip that can be leveraged to characterize the genes and mechanisms that cause this disorder. Crosstalk between epithelial and mesenchymal cells underlies formation of the face and palate, but the basic molecular events mediating this crosstalk remain poorly understood. We previously demonstrated that mice lacking the epithelial-specific splicing factor Esrp1 have fully penetrant bilateral cleft lip and palate. In this study, we further investigated the mechanisms leading to cleft lip as well as cleft palate in both existing and new Esrp1 mutant mouse models. These studies included a detailed transcriptomic analysis of changes in ectoderm and mesenchyme in Esrp1-/- embryos during face formation. We identified altered expression of genes previously implicated in cleft lip and/or palate, including components of multiple signaling pathways. These findings provide the foundation for detailed investigations using Esrp1 mutant disease models to examine gene regulatory networks and pathways that are essential for normal face and palate development - the disruption of which leads to orofacial clefting in human patients.

  • References46
  • Citations

Citations

  • This paper may not have been cited yet.

Mentioned in this Paper

Mesenchyma
ESRP1
Epithelial-mesenchymal Cell Signaling
Cleft Lip
Genes
Gene Regulatory Networks
Mouse Model
Laboratory mice
Signal Pathways
ESRP1 protein, human

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

CZI Human Cell Atlas Seed Network

The aim of the Human Cell Atlas (HCA) is to build reference maps of all human cells in order to enhance our understanding of health and disease. The Seed Networks for the HCA project aims to bring together collaborators with different areas of expertise in order to facilitate the development of the HCA. Find the latest research from members of the HCA Seed Networks here.

Related Papers

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Phoebe M GoodBonnie L Padwa
Journal of Biological Regulators and Homeostatic Agents
DENTAL SUPPLEMENTS Mummolo
© 2020 Meta ULC. All rights reserved