Extended Data Fig. 6: Transcriptional activity of the MIR7-2/MIR1179 locus indicating high thyroid specificity of mature miRNA expression. | Nature Genetics

Extended Data Fig. 6: Transcriptional activity of the MIR7-2/MIR1179 locus indicating high thyroid specificity of mature miRNA expression.

From: STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Extended Data Fig. 6

a, Top panel: Sashimi plot visualizing coverage and splice junctions from aligned RNA-seq data from Pt1. The acute absence of reads overlapping with the localization of the miRNA stem loop sequences suggests efficient processing of the pri-MIR by the Microprocessor complex. Lower panel: annotation track showing the relative positions of relevant features including the MIR7-2 and MIR1179 stem loops, the major polyA site where most pri-MIR transcripts terminate, and spliced readthrough transcripts that connect to the first coding exon of AEN. LINC0158 is expressed on the opposite strand and overlaps with pri-MIR transcripts within the core of the bidirectional promoter (containing a CpG island). b, Tissue expression profiling of products from the miRNA locus. For each tissue, total RNA pooled from at least 3 individual donors was utilized (Ambion). Data (mean±SD; 3 replicate amplifications) were obtained by real-time reverse transcription PCR assays, normalized for either RNU44 (MIR7-5P and MIR1179) or UBE2D3 (spliced readthrough transcript, unprocessed MIR7-2 stem loop, LINC01586, AEN)85, and expressed relative to the expression detected in thyroid tissue (set to 100%).

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