論文 - 詳細
| RRC ID | 64760 |
|---|---|
| 著者 | Deveau C, Jiao X, Suzuki SC, Krishnakumar A, Yoshimatsu T, Hejtmancik JF, Nelson RF. |
| タイトル | Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish). |
| ジャーナル | PLoS Genet |
| Abstract |
We investigate mutations in trβ2, a splice variant of thrb, identifying changes in function, structure, and behavior in larval and adult zebrafish retinas. Two N-terminus CRISPR mutants were identified. The first is a 6BP+1 insertion deletion frameshift resulting in a truncated protein. The second is a 3BP in frame deletion with intact binding domains. ERG recordings of isolated cone signals showed that the 6BP+1 mutants did not respond to red wavelengths of light while the 3BP mutants did respond. 6BP+1 mutants lacked optomotor and optokinetic responses to red/black and green/black contrasts. Both larval and adult 6BP+1 mutants exhibit a loss of red-cone contribution to the ERG and an increase in UV-cone contribution. Transgenic reporters show loss of cone trβ2 activation in the 6BP+1 mutant but increase in the density of cones with active blue, green, and UV opsin genes. Antibody reactivity for red-cone LWS1 and LWS2 opsin was absent in the 6BP+1 mutant, as was reactivity for arrestin3a. Our results confirm a critical role for trβ2 in long-wavelength cone development. |
| 巻・号 | 16(6) |
| ページ | e1008869 |
| 公開日 | 2020-6-1 |
| DOI | 10.1371/journal.pgen.1008869 |
| PII | PGENETICS-D-19-01687 |
| PMID | 32569302 |
| PMC | PMC7332105 |
| MeSH | Animals Animals, Genetically Modified Cell Differentiation / genetics Color Vision / genetics* Cone Opsins / genetics Cone Opsins / metabolism Frameshift Mutation Gene Expression Regulation, Developmental* Genes, erbA / genetics* INDEL Mutation Larva Models, Animal Photoreceptor Cells, Invertebrate / pathology Retina / cytology Retina / growth & development* Retina / pathology Sequence Deletion Thyroid Hormone Receptors beta / genetics* Trans-Activators / genetics Trans-Activators / metabolism Zebrafish / genetics Zebrafish / growth & development Zebrafish Proteins / genetics Zebrafish Proteins / metabolism |
| IF | 5.175 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 各媒体での言及数の合計 | 0 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| ゼブラフィッシュ | Tg(zfSWS2-3.5A:EGFP) kj11 |