A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

ABSTRACT: Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of coactivated enhancers and their target genes, known as superenhancers, are important in determining cell identity but have been largely unexplored in development. In this study we identified superenhancer regions unique to human embryonic craniofacial tissue. To demonstrate the importance of such regions in craniofacial development and disease, we focused on an ~600 kb noncoding region located between NPVF and NFE2L3. We identified long range interactions with this region in both human and mouse embryonic craniofacial tissue with the anterior portion o

SUBMITTER: Wilderman A 

PROVIDER: S-EPMC10762089 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature