[HTML][HTML] Down syndrome critical region-1 is a transcriptional target of nuclear factor of activated T cells-c1 within the endocardium during heart development
H Wu, S Kao, T Barrientos, SH Baldwin… - Journal of biological …, 2007 - ASBMB
Patients with Down syndrome have characteristic heart valve lesions resulting from
endocardial cushion defects. The Down syndrome critical region 1 (DSCR1) gene, identified
at the conserved trisomic 21 region in those patients, encodes a calcineurin inhibitor that
inactivates nuclear factor of activated T cells (NFATc) activity. Here, we identify a regulatory
sequence in the promoter region of human DSCR1 that dictates specific expression of a
reporter gene in the endocardium, defined by the temporal and spatial expression of Nfatc1 …
endocardial cushion defects. The Down syndrome critical region 1 (DSCR1) gene, identified
at the conserved trisomic 21 region in those patients, encodes a calcineurin inhibitor that
inactivates nuclear factor of activated T cells (NFATc) activity. Here, we identify a regulatory
sequence in the promoter region of human DSCR1 that dictates specific expression of a
reporter gene in the endocardium, defined by the temporal and spatial expression of Nfatc1 …