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- Title
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
- Authors
Diaz-Meyer, N; Day, C D; Khatod, K; Maher, E R; Cooper, W; Reik, W; Junien, C; Graham, G; Algar, E; Der Kaloustian, V M; Higgins, M J
- Abstract
Beckwith-Wiedemann syndrome (BWS) arises by several genetic and epigenetic mechanisms affecting the balance of imprinted gene expression in chromosome 11p15.5. The most frequent alteration associated with BWS is the absence of methylation at the maternal allele of KvDMR1, an intronic CpG island within the KCNQ1 gene. Targeted deletion of KvDMR1 suggests that this locus is an imprinting control region (ICR) that regulates multiple genes in 11p15.5. Cell culture based enhancer blocking assays indicate that KvDMR1 may function as a methylation modulated chromatin insulator and/or silencer.
- Publication
Journal of medical genetics, 2003, Vol 40, Issue 11, p797
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.40.11.797