The medaka rs-3 locus required for scale development encodes ectodysplasin -A receptor.
Open accessAbstract
The bodies of most teleost fish species are covered with specialized subepithelial structures known as scales. The scale is an epithelial appendage that differentiates from the dermal mesenchyme. Mammals, on the other hand, have no scales, but instead their bodies are covered with hair. Although their appearances are quite different, scales and hair can be considered structurally similar in that both of them are epithelial appendages distributed over the body surface in an orderly pattern. This analogy suggests that they may have the same evolutionary origin. But, to date, no molecular evidence has been presented that links scales and hair. A mutation at the rs-3 locus of medaka (Oryzias latipes) leads to almost complete loss of scales. We demonstrated that the rs-3 locus encodes ectodysplasin-A receptor (EDAR), which is required for the initiation of hair development in mammals. We identified a novel transposon inserted in the first intron of EDAR, which causes aberrant splicing. This work shows that EDAR is required for scale development in fish and suggests that it is an evolutionarily conserved molecule that is required for the development of epithelial appendages in vertebrates.
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The more subtle phenotypes observed in the medaka mutant are likely due to partial loss of function of edar caused by a hypomorphic rs-3 allele.
“As the phenotype of the rs-3 mutant is similar to the fls dfang allele in the zebrafish, it is likely that the more subtle phenotypes observed in the medaka mutant is due to partial loss of function of edar caused by a hypomorphic rs-3 allele [47].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [47]
The Results and discussion identify rs-3 as an EDAR mutation and report no detectable defects beyond scale loss. But the paper says the mutant transcript likely prevents EDAR protein synthesis, contrary to the claim that the allele retains partial function; it does not make the zebrafish comparison. (LLM, conf=0.86)
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Experimental — accuracy not yet measuredThe spontaneous rs-3 mutant in medaka has a transposon insertion in the 5′ UTR of edar resulting in the reduction of scales but no effect on fin or teeth development.
“The spontaneous rs-3 mutant in medaka (Oryzias latipes), is shown to have a transposon insertion in the 5′ UTR of edar resulting in the reduction of scales but no effect on fin or teeth development [47].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [47]
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- Authors
- Kondo, S., Kuwahara, Y., Kondo, M., Naruse, K., Mitani, H., Wakamatsu, Y., Ozato, K., Asakawa, S., Shimizu, N., & Shima, A.
- Affiliations
- The University of Tokyo (JP)
- Nagoya University (JP)
- Keio University (JP)
- Corresponding author
- Kondo, Shu
- Venue
- Current Biology
- Publisher
- Elsevier BV
- Published
- 2001-08
- Volume
- 11
- Issue
- 15
- Pages
- 1202-1206
- ISSN
- 0960-9822 (ISSN-L)
- OpenAlex
- W2048319852
- Cited by
- 141
- References
- 1
- Citations by year
- 2025: 2 · 2024: 5 · 2023: 9 · 2022: 6 · 2021: 5 · 2020: 9 · 2019: 4 · 2018: 7 · 2017: 3 · 2016: 5 · 2015: 5 · 2014: 7 · 2013: 5 · 2012: 7
- FWCI
- 2.17
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Current Biology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology (813)
- Japan Society for the Promotion of Science
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Keywords
- EDAR, medaka, scale development, hair development, transposon insertion, aberrant splicing
- MeSH terms
- Amino Acid Sequence, Animals, Membrane Proteins, Molecular Sequence Data, Mutation, Oryzias, Phenotype, RNA Splicing, Sequence Homology, Amino Acid, In Situ Hybridization, Fish Proteins, Ectodysplasins, Edar Receptor
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