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Causes and consequences of multi-locus imprinting disturbances in humans

Causes and consequences of multi-locus imprinting disturbances in humans
Causes and consequences of multi-locus imprinting disturbances in humans

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).

DNA Methylation, Genome, Human, Genomic Imprinting, Germ Cells, Histone Code, Humans, Mutation, Journal Article, Review, Research Support, Non-U.S. Gov't
0168-9525
444-455
Sanchez-Delgado, Marta
97b6046b-d4c2-45bb-babb-e1076340fc9e
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Lapunzina, Pablo
a42660d7-e5ed-42a4-a896-df7ee512d13d
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Sanchez-Delgado, Marta
97b6046b-d4c2-45bb-babb-e1076340fc9e
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Lapunzina, Pablo
a42660d7-e5ed-42a4-a896-df7ee512d13d
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5

Sanchez-Delgado, Marta, Riccio, Andrea, Eggermann, Thomas, Maher, Eamonn R, Lapunzina, Pablo, Mackay, Deborah and Monk, David (2016) Causes and consequences of multi-locus imprinting disturbances in humans. Trends in Genetics, 32 (7), 444-455. (doi:10.1016/j.tig.2016.05.001).

Record type: Review

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).

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More information

e-pub ahead of print date: 24 May 2016
Published date: July 2016
Additional Information: Copyright © 2016 Elsevier Ltd. All rights reserved.
Keywords: DNA Methylation, Genome, Human, Genomic Imprinting, Germ Cells, Histone Code, Humans, Mutation, Journal Article, Review, Research Support, Non-U.S. Gov't

Identifiers

Local EPrints ID: 418162
URI: http://eprints.soton.ac.uk/id/eprint/418162
ISSN: 0168-9525
PURE UUID: 6ca0c99d-072e-4e68-8122-73badafe2aeb
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 23 Feb 2018 17:30
Last modified: 17 Dec 2019 01:54

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Contributors

Author: Marta Sanchez-Delgado
Author: Andrea Riccio
Author: Thomas Eggermann
Author: Eamonn R Maher
Author: Pablo Lapunzina
Author: Deborah Mackay ORCID iD
Author: David Monk

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