Abstract:
:The widely accepted association between aberrant methylation at specific imprinted loci and distinct imprinting disorders has recently been brought into question by the identification of methylation defects at multiple loci (multilocus methylation defect [MLMD]). Strikingly, in different imprinting disorders, the same MLMD patterns can be observed. The cause for this ambiguous epigenotype-phenotype correlation is currently unknown. Future strategies to solve this enigma have to include all levels of imprinting regulation, ranging from DNA methylation to chromatin organization, as any disturbance of the balanced interaction between the different players in imprinting regulation might cause disturbed expression of imprinted factors. The molecular analysis of MLMD will help in discovering these interactions and contribute to the understanding of genomic imprinting and its disturbances.
journal_name
Epigenomicsjournal_title
Epigenomicsauthors
Eggermann T,Leisten I,Binder G,Begemann M,Spengler Sdoi
10.2217/epi.11.84subject
Has Abstractpub_date
2011-10-01 00:00:00pages
625-37issue
5eissn
1750-1911issn
1750-192Xjournal_volume
3pub_type
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