Histone methyltransferases: regulation of transcription and contribution to human disease

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...

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Veröffentlicht in:Journal of molecular medicine (Berlin, Germany) Germany), 2010-12, Vol.88 (12), p.1213-1220
Hauptverfasser: Nimura, Keisuke, Ura, Kiyoe, Kaneda, Yasufumi
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container_title Journal of molecular medicine (Berlin, Germany)
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creator Nimura, Keisuke
Ura, Kiyoe
Kaneda, Yasufumi
description 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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subjects Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Chromatin
Disease - genetics
Gene Expression Regulation
General aspects
Histone-Lysine N-Methyltransferase - metabolism
Histones - metabolism
Human Genetics
Humans
Internal Medicine
Medical sciences
Molecular Medicine
Repressor Proteins - metabolism
Review
Transcription, Genetic
title Histone methyltransferases: regulation of transcription and contribution to human disease
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