Figure 1: Mutations in the miRNA biogenesis pathway in Wilms tumours. | Nature Communications

Figure 1: Mutations in the miRNA biogenesis pathway in Wilms tumours.

From: Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours

Figure 1

(a) Summary of somatic mutations detected by exome capture and massively parallel sequencing of matched Wilms tumours and germline DNA in the discovery set. (b) Mutations in miRNA biogenesis components are mutually exclusive with WT1 and CTNNB1 mutations. (c) Domain structure of DICER1 and DROSHA, indicating positions of mutations. Metal-binding residues in the RNase III domains are indicated in red. PAZ, Piwi–Argonaute–Zwille domain; DRBM, double-stranded RNA-binding motif. (d) Electropherograms from resequencing of selected mutations. Pie charts depict read counts from Illumina sequencing for reference (blue) and variant (red) alleles. (e) Modelling of G1809V mutation (silver) in the DICER1 metal-binding site, based on the structure of G. lamblia RNase III (PDB 2QVW). Numbering of equivalent Homo sapiens DICER1 residues is indicated. Dots indicate solvent-accessible surface.

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