Article
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
Human molecular genetics - 1 Mar 2010
Demars Julie, Shmela Mansur Ennuri, Rossignol Sylvie, Okabe Jun, Netchine Irène, Azzi Salah, Cabrol Sylvie, Le Caignec Cédric, David Albert, Le Bouc Yves, El-Osta Assam, Gicquel Christine
Abstract excerpt
The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This methylation-sensitive chromatin insulator works by binding the zinc-finger protein CTCF in a parent-specific manner. DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the...
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