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Imprint switch mechanism indicated by mutations in prader‐willi and angelman syndromes
Author(s) -
Kelsey Gavin,
Reik Wolf
Publication year - 1997
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950190502
Subject(s) - genomic imprinting , imprinting (psychology) , angelman syndrome , biology , genetics , epigenetics , allele , germline , gene , dna methylation , germline mutation , mechanism (biology) , mutation , gene expression , philosophy , epistemology
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 (1) on two classical imprinting disorders, the Prader‐Willi (PWS) and Angleman (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.