Fig. S1

Isolation of the aa51.3^pd1092 locus. A splice-site mutation in uhrf1 is causative of the aa51.3^pd1092 phenotype. (A, A′, and A′′) Whole exome sequencing of WT and aa51.3^pd1092 larvae showing linkage to chromosome 22 in SNPTrack (A), the homozygosity interval (A′), and positional mapping of the region (A′′), which identified a splice-site mutation in the splice donor site at the end of exon five (star) in uhrf1. (B) uhrf1 exons 3 through 8 can be amplified in WT but not mutant larvae. (C and D) Noncomplementation of aa51.3^pd1092 (C, Middle) with uhrf1^hi3020 (C, Bottom). Brightfield image of noncomplementation (C) and quantification of failure to complement (D). (D: aa51.3^pd1092 incross: n = 90 WT, n = 33 mutant; aa51.3^pd1092; uhrf1^hi3020 complementation: n = 250 WT; n = 89 mutant).