ena-STUDY-UK ESSEN-22-04-2019-09:30:31:061-242
Genome-wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome
The spacing of nucleosomes, which is important for gene expression, is regulated by the SWItch/Sucrose Non-Fermenting (SWI/SNF) complex. Mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of mutations in ARID1B. CSS is a rare congenital disorder characterised by facial dysmorphism, digital anomalies, and variable intellectual disability. To investigate whether mutations in the ubiquitously expressed ARID1B gene leads to alterations of the nucleosome landscape of CD14+ monocytes, we performed 'Nucleosome Occupancy and Methylome-Sequencing' (NOMe-seq) in four individuals with CSS and four age- and sex-matched control individuals. We found that mutations in the human SWI/SNF subunit ARID1B gene have little impact on the nucleosome landscape in monocytes.
The spacing of nucleosomes, which is important for gene expression, is regulated by the SWItch/Sucrose Non-Fermenting (SWI/SNF) complex. Mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of mutations in ARID1B. CSS is a rare congenital disorder characterised by facial dysmorphism, digital anomalies, and variable intellectual disability. To investigate whether mutations in the ubiquitously expressed ARID1B gene leads to alterations of the nucleosome landscape of CD14+ monocytes, we performed 'Nucleosome Occupancy and Methylome-Sequencing' (NOMe-seq) in four individuals with CSS and four age- and sex-matched control individuals. We found that mutations in the human SWI/SNF subunit ARID1B gene have little impact on the nucleosome landscape in monocytes.