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Integrating genome and epigenome in human disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics. (Genomic Analysis of Gene Regulation)
2009 (English)In: Epigenomics / [ed] Anne Ferguson-Smith, John Greally & Robert Martiniensen, Dordrecht: Springer Science+Business Media B.V., 2009, 343-368 p.Chapter in book (Other academic)
Abstract [en]

Transcription factors (TFs) and the core components of the epigenome, DNA methylation and histone modifications interact in the epigenetic machinery. Expression of key three-four selected transcription factors can dedifferentiate differentiated cells into induced pluripotent stem cells with a totally distinct epigenome. Out of the around 2,000 nuclear proteins, around 350 are known to cause disease when mutated. The conditions range from rare syndromes to common diseases. Mutations are found in all components of the epigenetic machinery, e.g. proteins mediating DNA methylation and those binding to methylated cytosine, histone proteins and enzymes adding or removing modifications to histone tails, those binding to the modifications as well as proteins in the basal transcription machinery. Sequence specific transcription factors are the most abundant nuclear proteins and mutations in them cause a wide range of diseases affecting different organs in the developing or mature organism. Even if a mutated protein is present in most or all cell-types, a specific disease is often found only in one or a few types. The reason for this is unclear and an interesting topic for future research. One hypothesis is that the disease is caused by the mutated protein interacting with other tissue restricted proteins. Technical breakthroughs like chromatin immunoprecipitation and analysis on next generation sequencers (ChIP-seq) mean that these processes can be systematically studied.


Place, publisher, year, edition, pages
Dordrecht: Springer Science+Business Media B.V., 2009. 343-368 p.
Keyword [en]
Transcription factors, Histone modifying enzymes, Methyl binding proteins, Mutation, Genome association, Human disease
National Category
Medical Genetics
Research subject
URN: urn:nbn:se:uu:diva-153484DOI: 10.1007/978-1-4020-9187-2ISBN: 978-1-4020-9186-5ISBN: 9781402091872OAI: oai:DiVA.org:uu-153484DiVA: diva2:416970
Available from: 2011-05-13 Created: 2011-05-13 Last updated: 2012-05-22Bibliographically approved

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