AI Article Synopsis
- Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by a deletion on chromosome 7, leading to symptoms like heart problems, intellectual disability, and unique facial characteristics.
- * Researchers created mouse embryonic stem cells that express the four key human genes linked to WBS, allowing for in-depth study of their functions.
- * The study generated multiple stable clones of these genes, enabling comparisons in gene expression under different conditions, which may help in understanding WBS better.
Article Abstract
Williams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. This multisystem disorder is mainly characterized by supravalvular aortic stenosis, mental retardation, and distinctive facial features. We generated mouse embryonic stem (ES) cells clones expressing each of the 4 human WBS genes (WBSCR1, GTF2I, GTF2IRD1 and GTF2IRD2) found in the specific delated region 7q11.23 causative of the WBS. We generated at least three stable clones for each gene with stable integration in the ROSA26 locus of a tetracycline-inducible upstream of the coding sequence of the genet tagged with a 3xFLAG epitope. Three clones for each gene were transcriptionally profiled in inducing versus non-inducing conditions for a total of 24 profiles. This small collection of human WBS-ES cell clones represents a resource to facilitate the study of the function of these genes during differentiation.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834640 | PMC |
| http://dx.doi.org/10.1038/s41597-019-0281-5 | DOI Listing |
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