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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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