| Histone methyltransferases: regulation of transcription and contribution to human disease. | |
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MedLine Citation:
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PMID: 20714703 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Histone modifications contribute to the precise regulation of transcription by recruiting non-histone proteins and controlling chromatin conformation. These covalent modifications are dynamically regulated by many enzymes that modify histones at specific residues in different ways. Histone modifiers contribute to development as well as cellular responses to extracellular stimuli. Mutations in the genes encoding them cause various diseases, including developmental disorders and certain malignancies. Haploinsufficiency for some histone methyltransferases, one of the principal modifiers of the histone modification network, are associated with particular congenital diseases, including Sotos syndrome, Wolf-Hirschhorn syndrome, and 9q syndrome. In this review, we discuss the molecular function of the histone methyltransferases and the human diseases associated with their dysfunction. |
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Authors:
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Keisuke Nimura; Kiyoe Ura; Yasufumi Kaneda |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-08-17 |
Journal Detail:
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Title: Journal of molecular medicine (Berlin, Germany) Volume: 88 ISSN: 1432-1440 ISO Abbreviation: J. Mol. Med. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-16 Completed Date: 2011-04-04 Revised Date: 2011-07-08 |
Medline Journal Info:
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Nlm Unique ID: 9504370 Medline TA: J Mol Med (Berl) Country: Germany |
Other Details:
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Languages: eng Pagination: 1213-20 Citation Subset: IM |
Affiliation:
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Division of Gene Therapy Science, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan. nimura@gts.med.osaka-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Disease
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genetics* Gene Expression Regulation* Histone-Lysine N-Methyltransferase / metabolism* Histones / metabolism Humans Repressor Proteins / metabolism Transcription, Genetic* |
| Chemical | |
Reg. No./Substance:
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0/Histones; 0/Repressor Proteins; EC 2.1.1.-/histone methyltransferase; EC 2.1.1.43/Histone-Lysine N-Methyltransferase |
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