Document Detail


Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.
MedLine Citation:
PMID:  17923774     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
I Karen Temple
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Endocrine development     Volume:  12     ISSN:  1421-7082     ISO Abbreviation:  Endocr Dev     Publication Date:  2007  
Date Detail:
Created Date:  2007-10-09     Completed Date:  2007-12-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101138956     Medline TA:  Endocr Dev     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  113-23     Citation Subset:  IM    
Affiliation:
Wessex Clinical Genetics Academic Group, Division of Human Genetics, University of Southampton, Southampton, UK. ikt@soton.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Beckwith-Wiedemann Syndrome / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 6
Diabetes Mellitus / genetics*
Female
Gene Expression Regulation
Genomic Imprinting*
Humans
Infant, Newborn
Male

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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