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. 2023 Apr 17;110(5):790–808. doi: 10.1016/j.ajhg.2023.03.016

Figure 3.

Figure 3

Eye and neuronal splicing read-outs of clinical variants

(A) Representative eye picture of flies expressing luciferase, SF2, SRSF1, and SRSF1 clinical variants in the fly eye under the control of the GMR-GAL4 enhancer.

(B) The irregularity score or regularity index of flies expressing luciferase (negative control), SRSF1 (positive control), a SRSF1 splicing-deficient protein (F56D/F58D/K138A) (negative control), and SRSF1 clinical variants. n > 10, ∗p < 0.01, data are represented as mean ± SEM. p.Asp44Asn and p.His183Arg display a lower IREG score similar to the SRSF1-overexpressing flies.

(C) Pigmentation score measuring the depigmentation in the different controls and the clinical variants. n > 10, ∗p < 0.01, data are represented as mean ± SEM.

(D) Offspring frequencies were measured in flies expressing luciferase, SRSF1, a splicing-deficient SRSF1 protein, and the clinical variants pan-neuronally. n > 10, ∗p < 0.01.