Ontology highlight
ABSTRACT:
SUBMITTER: Chen Q
PROVIDER: S-EPMC9683718 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Chen Qiming Q Dai Jiewen J Bian Qian Q
Science advances 20221123 47
Aberrations in tissue-specific enhancers underlie many developmental defects. Disrupting a noncoding region distal from the human <i>SOX9</i> gene causes the Pierre Robin sequence (PRS) characterized by the undersized lower jaw. Such a craniofacial-specific defect has been previously linked to enhancers transiently active in cranial neural crest cells (CNCCs). We demonstrate that the PRS region also strongly regulates <i>Sox9</i> in CNCC-derived Meckel's cartilage (MC), but not in limb cartilage ...[more]