Multilocus methylation defects in imprinting disorders
Multilocus methylation defects in imprinting disorders
Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. In imprinted genes, the expression of the allele is dependent upon its parental origin. Appropriate regulation of imprinted genes is important for normal development, with several genetic diseases associated with imprinting defects. A common process for controlling gene activity is methylation. The first steps for understanding the functions of DNA methylation and its regulation in mammalian development have led us to identify common (epi)genetic mechanisms involved in the eight human congenital imprinting disorders.
angelman syndrome, beckwith-wiedemann syndrome, imprinting disorder, multilocus methylation defect, prader-willis syndrome, pseudohypoparathyroidism type 1B, silver-russell syndrome, temple syndrome, transient neonatal diabetes, Wang-Kagami-Ogata syndrome
47-57
Mackay, Deborah J.G.
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Eggermann, Thomas
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Buiting, Karin
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Garin, Intza
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Netchine, Irène
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Linglart, Agnès
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de Nanclares, Guiomar Perez
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March 2015
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Buiting, Karin
30a70db4-a859-42fc-8d10-8a6db0ff0d71
Garin, Intza
521867fb-052c-4e62-8c32-22d366698193
Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078
Linglart, Agnès
05219f7f-aa9b-472f-b552-63d00b0b6d70
de Nanclares, Guiomar Perez
4f5fb1c5-879f-4db8-a9cd-8987d8f3d120
Mackay, Deborah J.G., Eggermann, Thomas, Buiting, Karin, Garin, Intza, Netchine, Irène, Linglart, Agnès and de Nanclares, Guiomar Perez
(2015)
Multilocus methylation defects in imprinting disorders.
BioMolecular Concepts, 6 (1), .
(doi:10.1515/bmc-2014-0037).
Abstract
Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. In imprinted genes, the expression of the allele is dependent upon its parental origin. Appropriate regulation of imprinted genes is important for normal development, with several genetic diseases associated with imprinting defects. A common process for controlling gene activity is methylation. The first steps for understanding the functions of DNA methylation and its regulation in mammalian development have led us to identify common (epi)genetic mechanisms involved in the eight human congenital imprinting disorders.
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More information
Accepted/In Press date: 12 January 2015
Published date: March 2015
Keywords:
angelman syndrome, beckwith-wiedemann syndrome, imprinting disorder, multilocus methylation defect, prader-willis syndrome, pseudohypoparathyroidism type 1B, silver-russell syndrome, temple syndrome, transient neonatal diabetes, Wang-Kagami-Ogata syndrome
Organisations:
Human Development & Health
Identifiers
Local EPrints ID: 373294
URI: http://eprints.soton.ac.uk/id/eprint/373294
ISSN: 1868-5021
PURE UUID: dc03f1a7-cbb7-4d35-9064-ab2af8ee90f3
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Date deposited: 14 Jan 2015 16:32
Last modified: 15 Mar 2024 03:01
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Contributors
Author:
Thomas Eggermann
Author:
Karin Buiting
Author:
Intza Garin
Author:
Irène Netchine
Author:
Agnès Linglart
Author:
Guiomar Perez de Nanclares
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