Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome
Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome
There are at least 6 well-studied imprinting domains on human autosomes. Each domain is under the regulatory control of an 'imprinting centre' that harbours a differentially methylated region. A number of molecular mechanisms result in differential silencing of some genes within these domains and gene expression is tightly regulated in normal individuals. However, this makes them vulnerable to naturally occurring genetic and epigenetic aberrations. Nine recognisable developmental syndromes have been described due to abnormalities within these 6 domains: transient neonatal diabetes (TND; at 6q24); Beckwith- Wiedemann syndrome (BWS) and Silver-Russell syndrome (at 11p15.5; 2 imprinted domains); maternal and paternal uniparental disomy syndromes (at 14q32); Angelman and Prader-Willi syndromes (at 15q11-13), and pseudohypoparathyroidism type 1b (at 20q12-13). Furthermore, it is now recognised that involvement at multiple domains can occur simultaneously and result in what has been described as the hypomethylation syndrome. TND and BWS are discussed in more detail as examples of imprinting disorders.
syndrome, genetics, uniparental disomy, diabetes, male, human, abnormalities, gene expression, genes, expression, gene expression regulation, chromosomes
113-123
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
9 October 2007
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Temple, I. K.
(2007)
Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.
In,
Scharfmann, R. and Shield, J.P.H.
(eds.)
Development of the Pancreas and Neonatal Diabetes: 1st ESPE Advanced Seminar in Developmental Endocrinology, Paris, May 2007.
(Endocrine Development, 12)
Karger, .
(doi:10.1159/000109638).
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Book Section
Abstract
There are at least 6 well-studied imprinting domains on human autosomes. Each domain is under the regulatory control of an 'imprinting centre' that harbours a differentially methylated region. A number of molecular mechanisms result in differential silencing of some genes within these domains and gene expression is tightly regulated in normal individuals. However, this makes them vulnerable to naturally occurring genetic and epigenetic aberrations. Nine recognisable developmental syndromes have been described due to abnormalities within these 6 domains: transient neonatal diabetes (TND; at 6q24); Beckwith- Wiedemann syndrome (BWS) and Silver-Russell syndrome (at 11p15.5; 2 imprinted domains); maternal and paternal uniparental disomy syndromes (at 14q32); Angelman and Prader-Willi syndromes (at 15q11-13), and pseudohypoparathyroidism type 1b (at 20q12-13). Furthermore, it is now recognised that involvement at multiple domains can occur simultaneously and result in what has been described as the hypomethylation syndrome. TND and BWS are discussed in more detail as examples of imprinting disorders.
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Published date: 9 October 2007
Keywords:
syndrome, genetics, uniparental disomy, diabetes, male, human, abnormalities, gene expression, genes, expression, gene expression regulation, chromosomes
Identifiers
Local EPrints ID: 60299
URI: http://eprints.soton.ac.uk/id/eprint/60299
ISSN: 1421-7082
PURE UUID: dabb0d46-d607-422a-b426-b417309ac17c
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Date deposited: 08 Sep 2008
Last modified: 16 Mar 2024 03:03
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Contributors
Editor:
R. Scharfmann
Editor:
J.P.H. Shield
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