Imprint switch mechanism indicated by mutations in Prader-Willi and Angelman syndromes.
Genomic imprinting is an epigenetic mechanism resulting in the preferential expression of the maternal or paternal alleles of a specific subset of genes in the mammalian genome. A key but relatively unexplored question is how imprints are established in the germline. New observations on two classical imprinting disorders, the Prader-Willi (PWS) and Angelman (AS) syndromes, offer the first genetic insight into this process. Molecular analysis of imprinting mutations that interfere with the appropriate establishment of the maternal and paternal epigenotypes has led to the identification of imprinted transcripts that could be involved in switching imprints in the germlines.
Kelsey
G
G
Laboratory of Developmental Genetics and Imprinting, Babraham Institute, Cambridge, UK. gavin.kelsey@bbsrc.ac.uk
Reik
W
W
D017204:Angelman Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D011218:Prader-Willi Syndrome / Q000235:genetics*