Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome.
Genes are recognized as undergoing genomic imprinting when they are capable of being expressed only from the paternal or only from the maternal chromosome. The process can occur coordinately within large physical domains in mammalian chromosomes. One interesting facet of the study of genomic imprinting is that it offers insight into the regulation of large chromosomal regions. Understanding this regulation involves elucidating the cis-acting regulators of gene expression and defining the elements that maintain chromatin insulation, both required for understanding more practically applicable areas of biological research, such as efficient transgene production. This review is focused on the regulation of the imprinted domain of human chromosome 11p15.5, responsible for Beckwith-Wiedemann syndrome (BWS). Recent findings indicate that the maintenance of imprinting within this domain is critically dependent on the stable maintenance of chromatin insulation.
Greally
J M
JM
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA. john.greally@yale.edu
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002843:Chromatin / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics*; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D008745:Methylation; D008957:Models, Genetic; D009124:Muscle Proteins / Q000378:metabolism; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated
D002843:Chromatin; C094335:H19 long non-coding RNA; D006570:Heterochromatin; D009124:Muscle Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D007335:Insulin-Like Growth Factor II