High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.

ABSTRACT: Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the human face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early

SUBMITTER: Wilderman A 

PROVIDER: S-EPMC5965702 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature