Fig 1

Mutations disrupting the adad1 gene cause germ cell loss in adult zebrafish.

A: Graphical representation of Slc34a1a and Adad1 wild-type and mutant proteins. Missense mutations are shown in red below wild-type protein schematics in the approximate position they occur in the protein. Representative images of truncated proteins resulting from nonsense mutations are shown. The frameshifted region of slc34a1a^umb10 is colored orange. Numbers denote the number of amino acids in each protein. Abbreviations: Na-Pi cotrans (sodium dependent phosphate co-transporter domain), dsRBM (double-stranded RNA binding motif), WT (wild type). B-E: Hematoxylin-eosin staining of testes from adult wild type (B), t30103 homozygous mutant (C), slc34a1a^umb10 trans-heterozygous to t30103 (D), and adad1^Y67X trans-heterozygous to t30103 (E). In the wild-type testis spermatogonia, spermatocytes, and mature sperm are marked by red, blue, and yellow outlines, respectively. The t30103 homozygous and adad1^Y67X/t30103 trans-heterozygous testes are small and lack germ cells (red dotted outlines in C and E). Conversely, there is no visible difference between wild-type and slc34a1a^umb10/t30103 trans-heterozygous testes. Scale bar: 50 μm.