Methylation and imprinting

Deletion of a differentially methylated locus affects the imprinting of nearby genes in mice.

Jonathan Weitzman(jonathanweitzman@hotmail.com)
Sep 12, 2002

A third of human patients with Beckwith-Wiedemann syndrome (BWS) have lost maternal-specific methylation of the KvDMR1 (differential methylated region) locus, a putative imprinting control region found within the KCNQ1 gene. In an Advanced Online Publication in Nature Genetics, Fitzpatrick and colleagues provide clear evidence linking KvDMR1 to imprinted gene expression (Nat Genet 2002, DOI:10.1038/ng988).

Fitzpatrick et al. generated mice in which KvDMR1 was deleted by gene-targeted homologous recombination. Paternal transmission of the deletion resulted in deregulated imprinting of the genomic locus and reactivation of genes both distal and proximal to KvDMR1. Paternal inheritance was also associated with reduced weight. They speculate that elevated levels of maternally expressed genes (such as Cdkn1c, encoding a cyclin-dependent kinase inhibitor) account for the growth defect.

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