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. 2022 Mar 26;31(16):2751–2765. doi: 10.1093/hmg/ddac070

Figure 4.

Figure 4

ROBO1 p.S1522L is a partial LoF allele. (A) Variants of ROBO1 (NP_002932.1) and corresponding residues in fly Robo1 (NP_476899.1). Robo receptors contain five immunoglobulin (Ig) domains, three Fibronectin (Fn) type III domains, a transmembrane (TM) domain and a large unstructured intracellular region typically containing four conserved cytoplasmic (CC) motifs. (B) Viability of adult flies as well as life span when human ROBO1 cDNAs are overexpressed. UAS-ROBO1 reference but not p.S1522L reduces viability. NS, P > 0.05; *P < 0.05, ***P < 0.001 by chi-square test between each genotype to corresponding controls (no UAS). (C) Confocal images of FasII immunostaining in the VNC of stage 16 embryos. Expression of p.S1522L is less toxic than the ROBO1 reference in the VNC midline. Segments showing ectopic crossing are indicated by arrowheads, longitudinal axon disruption is indicated by a star. The severity of the VNC defects were quantified, subtle defects correspond to single aberrant segments in the VNC, mild defects correspond to two or three defective segments in a VNC. The number of embryos is indicated at the bottom of the column.