Mutations in an amino acid transporter gene are responsible for sex-linked translucent larval skin of the silkworm, Bombyx mori

The sex-linked translucent (os) mutation in the silkworm, Bombyx mori, confers slightly translucent larval skin resulting from a decrease in the incorporation of uric acid into epidermal cells. By positional cloning, we narrowed a region linked to the os phenotype to approximately 157 kb located on scaffold Bm_scaf72 on the Z chromosome (chromosome 1). The region contained four gene models. Sequencing analysis revealed that one of the candidate genes had a 7-bp deletion in the coding region. We also found a 111-bp deletion or single-nucleotide substitution in the same gene using independent os mutant strains. Because all the mutations caused the generation of abnormal transcripts followed by translation of a truncated protein, we conclude that the mutation of this candidate gene is responsible for the translucent larval skin of the os mutant. Sequence analysis indicated that the gene responsible for the os mutation had homology to amino acid transporters of the solute carrier family of proteins. Our results suggest that solute carrier proteins are involved in uric acid transport in insects and other invertebrates.

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► The gene responsible for the os (sex-linked translucent) mutation was determined by positional cloning and sequence analysis.
► Three independent mutations in the os gene caused the generation of abnormal transcripts followed by translation of truncated proteins.
► A motif search showed that the OS protein was similar to the transmembrane amino acid transporters of the solute carrier family.