Article
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Human molecular genetics - 15 May 2008
Cerrato Flavia, Sparago Angela, Verde Gaetano, De Crescenzo Agostina, Citro Valentina, Cubellis Maria Vittoria, Rinaldi Maria Michela, Boccuto Luigi, Neri Giovanni, Magnani Cinzia, D'Angelo Paolo, Collini Paola, Perotti Daniela, Sebastio Gianfranco, Maher Eamonn R, Riccio Andrea
Abstract excerpt
The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). These mutations result in the hypermethylation of the remaining IC1 region, loss of IGF2/H19...
Topics
- Alleles
- Beckwith-Wiedemann Syndrome
- CCCTC-Binding Factor
- Chromosome Segregation
- Chromosomes, Human, Pair 11
- DNA Methylation
- DNA-Binding Proteins
- Female
- Gene Deletion