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. 2007 Jun 1;3(6):e88. doi: 10.1371/journal.pgen.0030088

Figure 7. The julie j24e1 Mutation Is a Splice-Site Mutation in skiv2l2 .

Figure 7

(A) The julie j24e1 mutation was mapped close to a marker z3825 on Chromosome 10.

(B) The approximately 226.8 kb physical map of the julie locus was built from the zebrafish genome assembly version 5 (Zv5), flanked by three recombinants at the distal end and two recombinants at the proximal end from analyzing 438 meioses. A minimal critical region for the julie j24e1 mutation was determined by a single recombinant with a distal marker in dhx29 and one proximal recombinant with a marker in skiv2l2.

(C) The genomic sequencing for skiv2l2 locus in the julie j24e1 mutants revealed a splicing site mutation (GT to AT change) at the 11th exon-intron boundary (red arrowheads).

(D) Sequencing of julie j24e1 mutant cDNA for skiv2l2 revealed a 57 bp in-frame deletion at the 3′ end of exon 11 resulting in a partial deletion in the highly conversed DEAD-box domain in Skiv2l2 protein.

(E) The phylogenetic tree of skiv2l genes was constructed using the neighbor-joining method with S. cerevisiae MTR4 as the out-group.