Mutations in regulatory regions that ’create bridges’ to contact target genes in distant chromosomal neighborhoods may result in craniofacial birth defects, FMI researchers have found.
Mutations in regulatory regions that 'create bridges' to contact target genes in distant chromosomal neighborhoods may result in craniofacial birth defects, FMI researchers have found. Craniofacial birth defects, including cleft lip and palate, are among the most common human congenital malformations. Now, FMI researchers have identified a DNA region containing multiple regulatory elements that interact with genes across distant chromosomal neighborhoods, ensuring that specific facial structures develop in the right place. The findings may provide new insights into normal head development as well as craniofacial birth defects. Craniofacial anomalies occur because of defects in neural crest cells, which give rise to the face and skull. Working in mouse neural crest cells, researchers led by Filippo Rijli identified 2,232 'super-enhancers' — clusters of DNA regions that control how genes are expressed. More than 145 of these super-enhancers targeted genes involved in establishing neural crest cell 'positional' identity, which is connected to the cells' location in the face as it develops.
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