Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

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• 作者：Marta Sanchez-Delgado¹ ; Andrea Riccio² ; Thomas Eggermann³ ; Eamonn R. Maher⁴ ; Pablo Lapunzina⁵ ; ⁶ ; Deborah Mackay⁷ ; David Monk¹ ; ^{dmonk@idibell.cat" class="auth_mail" title="E-mail the corresponding author}
• 关键词：imprinting ; germline methylation ; ZFP57 ; NLRPs ; multi-locus imprinting disturbances
• 刊名：Trends in Genetics
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：32
• 期：7
• 页码：444-455
• 全文大小：2065 K

文摘

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).