Igf2 and H19 are linked and reciprocally imprinted genes located on the distal end of mouse chromosome 7

Igf2 and H19 are linked and reciprocally imprinted genes located on the distal end of mouse chromosome 7. The regulation of the two genes has been intensively studied both as a model system for understanding mechanisms of genomic imprinting and because dysregulation of IGF2 in humans is associated with the developmental disorder Beckwith-Wiedemann syndrome and with many types of tumors.
The paternal silencing of H19 and maternal repression of Igf2 both depend on a common cis-acting element, called the H19ICE (for H19 imprinting control element), located upstream of the H19 promoter. The boundaries of the ICE are not entirely precise. Sequences to kb ?7 (relative to the start site of the H19 mRNA transcript) are sufficient to imprint single-copy H19 transgenes. If sequences to only kb ?3.8 are used, only transgenes inserted as multiple copies are imprinted, and even then paternally inherited H19 transgenes are expressed in occasional pups.

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