Article
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Human molecular genetics - 1 Feb 2013
Beygo Jasmin, Citro Valentina, Sparago Angela, De Crescenzo Agostina, Cerrato Flavia, Heitmann Melanie, Rademacher Katrin, Guala Andrea, Enklaar Thorsten, Anichini Cecilia, Cirillo Silengo Margherita, Graf Notker, Prawitt Dirk, Cubellis Maria Vittoria, Horsthemke Bernhard, Buiting Karin, Riccio Andrea
Abstract excerpt
At chromosome 11p15.5, the imprinting centre 1 (IC1) controls the parent of origin-specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target sites (CTS) for the zinc-finger protein CTCF, whose binding on the maternal chromosome prevents the activation of IGF2 and allows that of H19 by common enhancers. CTCF binding helps maintaining the maternal IC1 methylation-free, whereas on...
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