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

doi:10.1016/j.tig.2016.05.001

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

Aston Medical School

Hospital Duran i Reynals
Seconda Università degli Studi di Napoli
Aachen University Hospital
Hospital Universitario La Paz
Centro de Investigación Biomédica en Red de Enfermedades Raras
University of Southampton, Faculty of Medicine

Research output: Contribution to journal › Review article › peer-review

76 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	444-455
Number of pages	12
Journal	Trends in Genetics
Volume	32
Issue number	7
Early online date	14 Jun 2016
DOIs	https://doi.org/10.1016/j.tig.2016.05.001
Publication status	Published - 1 Jul 2016

Funding

The Monk laboratory is funded by the Spanish Ministerio de Educacion y Ciencia (BFU2014-53093 to D.M.). All co-authors are members of the ‘European Network for Human Congenital Imprinting Disorders’ COST action (BM1208).

Funders	Funder number
Spanish Ministerio de Educacion y Ciencia	BFU2014-53093

Keywords

Germline methylation
Imprinting
Multi-locus imprinting disturbances
NLRPs
ZFP57

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Cite this

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title = "Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans",

abstract = "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).",

keywords = "Germline methylation, Imprinting, Multi-locus imprinting disturbances, NLRPs, ZFP57",

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T1 - Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

AU - Sanchez-Delgado, Marta

AU - Riccio, Andrea

AU - Eggermann, Thomas

AU - Maher, Eamonn R.

AU - Lapunzina, Pablo

AU - Mackay, Deborah

AU - Monk, David

PY - 2016/7/1

Y1 - 2016/7/1

N2 - 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).

AB - 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).

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KW - Multi-locus imprinting disturbances

KW - NLRPs

KW - ZFP57

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JO - Trends in Genetics

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Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

Abstract

Funding

Keywords

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