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The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
2005 In: Molecular Vision, ISSN 1090-0535, Vol. 11, 950-957 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2005. Vol. 11, 950-957 p.
URN: urn:nbn:se:uu:diva-97861OAI: oai:DiVA.org:uu-97861DiVA: diva2:172950
Available from: 2008-11-18 Created: 2008-11-18Bibliographically approved
In thesis
1. Genetic and Genomic Analysis of Transcriptional Regulation in Human Cells
Open this publication in new window or tab >>Genetic and Genomic Analysis of Transcriptional Regulation in Human Cells
2008 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

There are around 20.000 genes in the human genome all of which could potentially be expressed. However, it is obvious that not all of them can be active at the same time. Thus, there is a need for coordination achieved through the regulation of transcription. Transcriptional regulation is a crucial multi-component process involving genetic and epigenetic factors, which determine when and how genes are expressed. The aim of this thesis was to study two of these components, the transcription factors and the DNA sequence elements with which they interact.

In papers I and II, we tried to characterize the regulatory role of repeated elements in the regulatory sequences of nitric oxide synthase 2 gene. We found that this type of repeat is able to adopt non B-DNA conformations in vitro and that it binds nuclear factors, in addition to RNA polymerase II. Therefore it is probable that these types of repeats can participate in the regulation of genes.

In papers III-V, we intended to analyze the genome-wide binding sites for six transcription factors involved in fatty acid and cholesterol metabolism and the sites of an epigenetic mark in a human liver cell line. For this, we applied the chromatin immunoprecipitation (ChIP) method together with detection on microarrays (ChIP-chip) or by detection with the new generation massively parallel sequencers (ChIP-seq). We found that all of these transcription factors are involved in other liver-specific processes than metabolism, for example cell proliferation. We were also able to define two sets of transcription factors depending on the position of their binding relative to gene promoters. Finally, we demonstrated that the patterns of the epigenetic mark reflect the structure and transcriptional activity of the promoters.

In conclusion, this thesis presents experiments, which moves our view from genetics to genomics, from in vitro to in vivo, and from low resolution to high resolution analysis of transcriptional regulation.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2008. 64 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 403
Transcription, ChIP-chip, ChIP-seq, genome-wide, transcription factors, microsatellite, epigenetic
National Category
Medical Genetics
urn:nbn:se:uu:diva-9407 (URN)978-91-554-7355-6 (ISBN)
Public defence
2008-12-12, Rudbecksalen, Rudbecklaboratoriet, Uppsala, 09:15
Available from: 2008-11-18 Created: 2008-11-18 Last updated: 2013-09-20Bibliographically approved

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