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doi:10.22028/D291-38466
Titel: | Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome |
VerfasserIn: | Kalmbach, Alexander Schröder, Christopher Klein-Hitpass, Ludger Nordström, Karl Ulz, Peter Heitzer, Ellen Speicher, Michael R. Rahmann, Sven Wieczorek, Dagmar Horsthemke, Bernhard Bramswig, Nuria C. |
Sprache: | Englisch |
Titel: | Cytogenetic and Genome Research |
Bandnummer: | 159 |
Heft: | 1 |
Verlag/Plattform: | Karger |
Erscheinungsjahr: | 2019 |
Freie Schlagwörter: | Coffin-Siris syndrome Epigenetics Monocytes NOMe-seq SWI/SNF |
DDC-Sachgruppe: | 500 Naturwissenschaften |
Dokumenttyp: | Journalartikel / Zeitschriftenartikel |
Abstract: | The switch/sucrose non-fermenting (SWI/SNF) complex is an ATP-dependent chromatin remodeller that regulates the spacing of nucleosomes and thereby controls gene expression. Heterozygous mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of the mutations in ARID1B. CSS is a rare congenital disorder characterized by facial dysmorphisms, digital anomalies, and variable intellectual disability. We hypothesized that mutations in genes encoding subunits of the ubiquitously expressed SWI/SNF complex may lead to alterations of the nucleosome profiles in different cell types. We performed the first study on CSS-patient samples and investigated the nucleosome landscapes of cell-free DNA (cfDNA) isolated from blood plasma by whole-genome sequencing. In addition, we studied the nucleosome landscapes of CD14+ monocytes from CSS-affected individuals by nucleosome occupancy and methylome-sequencing (NOMe-seq) as well as their expression profiles. In cfDNA of CSS-affected individuals with heterozygous ARID1B mutations, we did not observe major changes in the nucleosome profile around transcription start sites. In CD14+ monocytes, we found few genomic regions with different nucleosome occupancy when compared to controls. RNA-seq analysis of CD14+ monocytes of these individuals detected only few differentially expressed genes, which were not in proximity to any of the identified differential nucleosome-depleted regions. In conclusion, we show that heterozygous mutations in the human SWI/SNF subunit ARID1B do not have a major impact on the nucleosome landscape or gene expression in blood cells. This might be due to functional redundancy, cell-type specificity, or alternative functions of ARID1B. |
DOI der Erstveröffentlichung: | 10.1159/000503266 |
URL der Erstveröffentlichung: | http://dx.doi.org/10.1159/000503266 |
Link zu diesem Datensatz: | urn:nbn:de:bsz:291--ds-384663 hdl:20.500.11880/34694 http://dx.doi.org/10.22028/D291-38466 |
Datum des Eintrags: | 8-Dez-2022 |
Fakultät: | NT - Naturwissenschaftlich- Technische Fakultät |
Fachrichtung: | NT - Biowissenschaften |
Professur: | NT - Keiner Professur zugeordnet |
Sammlung: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
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