| Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome. | |
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MedLine Citation:
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PMID: 18786650 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Spatial organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes. Both diseases are caused by defects related to DNA methylation machinery, with Rett syndrome affecting the transduction of the repressive signal from the methyl CpG binding protein prototype, MeCP2, and ICF syndrome affecting the genetic control of DNA methylation, by the DNA methyltransferase DNMT3B. Rather than listing survey data, our aim is to highlight how a deeper comprehension of gene regulatory web may arise from studies of such pathologies. We also maintain that fundamental studies may offer chances for a therapeutic approach focused on these syndromes, which, in turn, may become paradigmatic for this increasing class of diseases. |
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Authors:
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M R Matarazzo; M L De Bonis; M Vacca; F Della Ragione; M D'Esposito |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2008-08-22 |
Journal Detail:
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Title: The international journal of biochemistry & cell biology Volume: 41 ISSN: 1357-2725 ISO Abbreviation: Int. J. Biochem. Cell Biol. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2008-11-21 Completed Date: 2009-04-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508482 Medline TA: Int J Biochem Cell Biol Country: England |
Other Details:
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Languages: eng Pagination: 117-26 Citation Subset: IM |
Affiliation:
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Institute of Genetics and Biophysics, A.Buzzati Traverso, Consiglio Nazionale delle Ricerche, via P.Castellino 111, 80131 Naples, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromatin / chemistry, metabolism* Chromosome Aberrations DNA Methylation Facial Asymmetry / genetics Humans Immunologic Deficiency Syndromes / genetics* Models, Molecular Rett Syndrome / genetics*, metabolism Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Chromatin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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