FIGURE SUMMARY
Title

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

Authors
Liu, Y.P., Bosch, D.G., Siemiatkowska, A.M., Rendtorff, N.D., Boonstra, F.N., Möller, C., Tranebjærg, L., Katsanis, N., Cremers, F.P.
Source
Full text @ Ophthalmic Genet.

Genetic interaction between rp1l1 and c2orf71l in zebrafish. (A) Convergent extension defects were observed in 10 somites stage (ss) embryos injected with a splice-blocking (SB) morpholino oligonucleotide (MO) against rp1l1 and/or a translation blocking (TB) MO against c2orf71l. Lateral view is shown in upper panels, with body gap angles marked by blue dashed lines; dorsal view is shown in lower panels. (B) Proportion of embryos in (A) shows additive effect between rp1l1 and c2orf71l on convergent extension defects. Fisher exact test results were shown with * indicating p < 0.05, and *** indicating p < 0.001. (C) In the first row, the size of the eye (marked with blue dashed lines) in 5 days post fertilization (dpf) larvae was measured in lateral view. In the second row, cryosections of 5 dpf larva eyes were stained with anti-rhodopsin (zpr-3, green) and nuclear counterstain DAPI (blue). The green channel of delineated areas in the second row was shown in the third row. (D) B-box plot of relative eye size (as marked in first row of (C)) was plotted, percent decrease of median compared to control was shown, suggesting an additive effect between rp1l1 and c2orf71l on eye size phenotype. Two-tail t-test results were shown with *** indicating p < 0.001. (E) Dorsal view (anterior end pointing up) of the heads of 5 dpf embryos stained with acetylated-tubulin antibody, showing mild and severe defects in cerebellum (marked with blue dashed lines) induced by injection of rp1l1 SB and/or c2orf71 TB. (F) Proportion of embryos with mild and severe cerebellar defects shown in (E) was plotted, suggesting a synergistic effect between rp1l1 and c2orf71 on cerebellar defects. Fisher exact test results were shown with * indicating p < 0.05, and *** indicating p < 0.001.

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Acknowledgments
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