Extended Data Fig. 7: Data supporting activated EGF(-like) signaling activity. | Nature Genetics

Extended Data Fig. 7: Data supporting activated EGF(-like) signaling activity.

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

Extended Data Fig. 7

a, Subset of DEGs (n = 2 STRmut vs n = 5 NL STRwt thyroids) that were directionally consistent with EGF signaling activity (from the analysis shown in Fig. 7e). b, Expression values of DEGs shown in a. Gene expression profile of an STRwt (nontoxic) MNG is shown for comparison. c, Downregulation of HPN encoding an EGFR-inactivating protease. Specific suppression of HPN expression in STRmut thyroid glands by RNA-seq (n = 2 thyroids with STRmut and 5 NL with STRwt) and RT-qPCR. For RT-PCR, samples included n = 4 NL thyroids (2 distinct from RNAseq samples), n = 3 with AITD, n = 2 with PTC, and one with MNG (all STRwt). For both Pt1 and Pt2 with STRmut, two separate specimens from their excised thyroid glands were analyzed by qPCR. ****, FDR = 2 × 10−21 (DESeq2). d, Alignment of MIR7-5P to predicted 3′-UTR target sites94 of HPN. Watson–Crick pairings are shown as vertical dashes and G:U wobble pairings by dots. TPM, transcripts per million.

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