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Pancreatic Development Disrupted by Mutations in the Dark Genome

Mutations in the enhancer element EnhP responsible for malformations in the pancreas and diabetes in newborns, indicate disruptions in nonprotein coding DNA elements can cause inherited diseases. The researchers show mice lacking both copies of EnhP were born with a severely underdeveloped pancreas and insulin-deficient diabetes. The leading role of this enhancer that activates a cluster of embryonic-stage enhancers that regulates the gene PTF1A in immature progenitor cells of the pancreas, overrides the existence of functional redundancy among other PTF1A enhancers.