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
444-455
Sanchez-Delgado, Marta
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Riccio, Andrea
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Eggermann, Thomas
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Maher, Eamonn R
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Lapunzina, Pablo
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Mackay, Deborah
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Monk, David
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July 2016
Sanchez-Delgado, Marta
97b6046b-d4c2-45bb-babb-e1076340fc9e
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Eggermann, Thomas
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Maher, Eamonn R
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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), .
(doi:10.1016/j.tig.2016.05.001).
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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e-pub ahead of print date: 24 May 2016
Published date: July 2016
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
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Date deposited: 23 Feb 2018 17:30
Last modified: 16 Mar 2024 03:05
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Author:
Marta Sanchez-Delgado
Author:
Andrea Riccio
Author:
Thomas Eggermann
Author:
Eamonn R Maher
Author:
Pablo Lapunzina
Author:
David Monk
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