ZFIN Image: Monroe et al., 2020, Fig. 5

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Figure Caption

Fig. 5 Enrichment of rare, pathogenic <italic>PCM1</italic> mutations in ASZ and functional modeling.

a Schematic depicting PCM1 protein and the location of protein interaction domains, and ultra-rare non-synonymous changes identified in both severe SZ cases and controls from the discovery and replication cohort. Colored boxes indicate loss of function (LOF), hypomorphic, or benign results from functional modeling in the zebrafish. b Schematic showing the functional modeling procedure in zebrafish embryos. 3 dpf, embryos imaged and ventricles quantified using ImageJ. Representative images for benign, hypomorphic, and LOF alleles are presented. Scale 100 µm (c) Normalized values for the average ventricular area of each variant discovered from severe SZ cases and controls are plotted relative to MO and MO + WT conditions. N fish/variant shown in Supplementary Table 1 with p values. Data as mean ± SD. LOF loss of function, CC coiled-coils domain, RAP1 rhoptry-associated protein 1 sequence, CI confidence interval, MO morpholino, WT wild-type. Detailed statistics in Table 1. Source data are provided as a Source Data File. Illustrations are original.

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Phenotype details

Acknowledgments

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