pnp4a Is the Causal Gene of the Medaka Iridophore Mutant guanineless
Open accessAbstract
See-through medaka lines are suitable for observing internal organs throughout life. They were bred by crossing multiple color mutants. However, some of the causal genes for these mutants have not been identified. The medaka has four pigment cell types: black melanophores, yellow xanthophores, white leucophores, and silvery iridophores. The causal genes of melanophore, xanthophore, and leucophore mutants have been elucidated, but the causal gene for the iridophore mutant remains unknown. Here, we describe the iridophore mutant, guanineless (gu), which exhibits a strong reduction in visible iridophores throughout its larval to adult stages. The gu locus was previously mapped to chromosome 5, but was located near the telomeric region, making it difficult to integrate into the chromosome. We sought the causal gene of gu using synteny analysis with the zebrafish genome and found a strong candidate, purine nucleoside phosphorylase 4a (pnp4a). Gene targeting and complementation testing showed that pnp4a is the causal gene of gu. This result will allow the establishment of inbred medaka strains or other useful strains with see-through phenotypes without major disruption in the genetic background of each strain.
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The medaka phenotype is consistent with pnp4a's proposed enzymatic role in generating high concentrations of guanine in iridophores to allow reflecting platelet formation.
“consistent with its proposed enzymatic role in generating high concentrations of guanine in iridophores to allow reflecting platelet formation [53].”
From A systems biology approach uncovers the core gene regulatory network governing iridophore fate choice from the neural crest (2018) · cites this paper as [53]
The Results state that purine nucleoside phosphorylase converts guanosine to guanine, and the Discussion links pnp4a to guanine synthesis and iridophore pigmentation in medaka. The passages do not specify high guanine concentrations or show that pnp4a enables reflecting platelet formation. (LLM, conf=0.84)
Experimental — accuracy not yet measuredIn medaka, the guanineless/pnp4a mutant phenotype is a pronounced reduction of iridophore reflectivity.
“in medaka the guanineless/pnp4a gene mutant phenotype is a pronounced reduction of iridophore reflectivity”
From A systems biology approach uncovers the core gene regulatory network governing iridophore fate choice from the neural crest (2018) · cites this paper as [53]
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Petratou, K., Subkhankulova, T., Lister, J. A., Rocco, A., Schwetlick, H., & Kelsh, R. N. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007402 · Cited by 69 · see citing works
- Authors
- Kimura, T., Takehana, Y., & Naruse, K.
- Affiliations
- National Institute of Genetics (JP)
- National Institute for Basic Biology (JP)
- Corresponding author
- Kimura, Tetsuaki
- Venue
- G3 Genes|Genomes|Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-04-01
- Volume
- 7
- Issue
- 4
- Pages
- 1357-1363
- ISSN
- 2160-1836 (ISSN-L)
- PMC
- PMC5386883
- OpenAlex
- W2593914584
- Cited by
- 46
- References
- 3
- Citations by year
- 2026: 7 · 2025: 4 · 2024: 10 · 2023: 8 · 2022: 1 · 2021: 6 · 2020: 1 · 2019: 6 · 2018: 3
- FWCI
- 1.42
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- G3 Genes Genomes Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science (16K18590)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Zebrafish Biomedical Research Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Keywords
- medaka, iridophores, melanophores, xanthophores, leucophores, causal gene identification, synteny analysis, gene targeting, complementation, chromosome 5
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, Exons, Heterozygote, Melanophores, Mutation, Oryzias, Phenotype, Phylogeny, Pigmentation, Gene Targeting, Gene Expression Regulation, Developmental, Synteny, Fish Proteins, Genetic Loci, CRISPR-Cas Systems
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