Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development.

ABSTRACT:

Background

Genetic variants of the transcription factor SIX1 and its co-factor EYA1 underlie 50% of Branchio-oto-renal syndrome (BOR) cases. BOR is characterized by craniofacial defects, including malformed middle ear ossicles leading to conductive hearing loss. In this work, we expand our knowledge of the Six1 gene regulatory network by using a Six1-null mouse line to assess gene expression profiles of E10.5 mandibular arches, which give rise to the neural crest (NC)-derived middle ear ossicles and lower jaw, via bulk RNA sequencing.

Results

Our transcriptomic analysis led to the identification of 808 differentially expressed genes that are related to translation, NC cell differentiation, osteogenesis, and chondrogenesis including components of the WNT signaling pathway. As

SUBMITTER: Baxi A 

PROVIDER: S-EPMC10592572 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature