Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

Marta Sanchez-Delgado, Andrea Riccio, Thomas Eggermann, Eamonn R. Maher, Pablo Lapunzina, Deborah Mackay, David Monk*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Eight syndromes are associated with the loss of methylation at specific imprinted loci. There has been increasing evidence that these methylation defects in patients are not isolated events occurring at a given disease-associated locus but that some of these patients may have multi-locus imprinting disturbances (MLID) affecting additional imprinted regions. With the recent advances in technology, methylation profiling has revealed that imprinted loci represent only a small fraction of the methylation differences observed between the gametes. To figure out how imprinting anomalies occur at multiple imprinted domains, we have to understand the interplay between DNA methylation and histone modifications in the process of selective imprint protection during pre-implantation reprogramming, which, if disrupted, leads to these complex imprinting disorders (IDs).

Original languageEnglish
Pages (from-to)444-455
Number of pages12
JournalTrends in Genetics
Issue number7
Early online date14 Jun 2016
Publication statusPublished - 1 Jul 2016


  • Germline methylation
  • Imprinting
  • Multi-locus imprinting disturbances
  • NLRPs
  • ZFP57


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