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Down syndrome critical region 9 (DSCR9) is a gene located on human chromosome 21 that encodes a long non-coding RNA with tissue-specific expression, most abundantly detected in the brain (especially in the hippocampus and amygdala) and heart[1]. DSCR9 is highly correlated with genes involved in neural development, function, and neurodegenerative diseases, suggesting a regulatory role in nervous system physiology[1][2]. Recent studies have linked DSCR9 to cancer biology, showing that its expression is upregulated in breast cancer and clear cell renal carcinoma, where it modulates cellular proliferation and stemness by regulating microRNAs and protein-coding target genes (e.g., GPR65)[2][4]. DSCR9 acts as a competitive endogenous RNA (ceRNA), impacting gene networks through interactions with miRNAs. It is being investigated as a novel prognostic biomarker for some cancers and may have functional relevance in Down syndrome pathophysiology, although it is not a classical therapeutic target, receptor, or enzyme[2][4][5][6].
As a lncRNA, DSCR9 may act via competitive binding to microRNAs (miRNA sponging), modulating their availability and thus influencing expression of protein-coding genes (example: regulating miR-504-5p, which controls G protein-coupled receptor 65 in breast cancer stem cells)
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