Regulation of DNA methylation by Dnmt3L
Part 1. Genetics
Published Online: 15 APR 2006
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Bourc'his, D. and Bestor, T. H. 2006. Regulation of DNA methylation by Dnmt3L. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.3.
- Published Online: 15 APR 2006
Imprinted genes and transposable elements simultaneously undergo de novo methylation during mammalian gametogenesis. Dnmt3L, a catalytically inactive DNA-methyltransferase homolog, regulates this process by directing the methylation machinery to target maternally imprinted genes in growing oocytes, and transposable elements and to a lower extent paternally imprinted genes in perinatal prospermatogonia. Engineered mutations in the Dnmt3L gene highlighted the importance of germ line methylation in reproduction and development. Failure to methylate maternally imprinted genes in Dnmt3L-mutant female germ cells resulted in a loss of allele-specific expression of these genes in the heterozygous progeny and caused maternal-effect lethality. Dnmt3L-deficient male germ cells showed demethylation and mass reactivation of retroposons associated with an interruption of spermatogenesis at the pachytene stage due to anomalies in homologous chromosome pairing. Further studies of the methylation regulator Dnmt3L should provide important clues about the mechanisms that establish methylation patterns in the mammalian genome.
- DNA methylation;
- DNA methyltransferase;
- germ cells;
- genomic imprinting;
- host defense;
- sexual dimorphism