The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling.

ABSTRACT: The development of craniofacial skeletal structures is fascinatingly complex and elucidation of the underlying mechanisms will not only provide novel scientific insights, but also help develop more effective clinical approaches to the treatment and/or prevention of the numerous congenital craniofacial malformations. To this end, we performed a genome-wide analysis of RNA transcription from non-coding regulatory elements by CAGE-sequencing of the facial mesenchyme of human embryos and cross-checked the active enhancers thus identified against genes, identified by GWAS for the normal range human facial appearance. Among the identified active cis-enhancers, several belonged to the components of the PI3/AKT/mTORC1/autophagy pathway. To assess the functional role of this pathway, we manipulated

SUBMITTER: Xie M 

PROVIDER: S-EPMC10965948 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature