論文 - 詳細
| RRC ID | 72457 |
|---|---|
| 著者 | Iwanami N, Ozaki Y, Sakaguchi H, Watanabe Y, Meng Q, Matsumoto K, Suzuki T, Hitomi K, Matsuda M. |
| タイトル | Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish. |
| ジャーナル | G3 (Bethesda) |
| Abstract |
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by albinism, visual impairment, and blood platelet dysfunction. One of the genes responsible for Hermansky-Pudlak syndrome, hps1, regulates organelle biogenesis and thus plays important roles in melanin production, blood clotting, and the other organelle-related functions in humans and mice. However, the function of hps1 in other species remains poorly understood. In this study, we discovered albino medaka fish during the maintenance of a wild-derived population and identified hps1 as the responsible gene using positional cloning. In addition to the specific absence of melanophore pigmentation, the hps1 mutant showed reduced blood coagulation, suggesting that hps1 is involved in clotting caused by both mammalian platelets and fish thrombocytes. Together, the findings of our study demonstrate that hps1 has an evolutionarily conserved role in melanin production and blood coagulation. In addition, our study presents a useful vertebrate model for understanding the molecular mechanisms of Hermansky-Pudlak syndrome. |
| 巻・号 | 12(10) |
| 公開日 | 2022-9-30 |
| DOI | 10.1093/g3journal/jkac204 |
| PII | 6659099 |
| PMID | 35944207 |
| PMC | PMC9526055 |
| MeSH | Albinism Animals Blood Coagulation / genetics Hemorrhagic Disorders Hermanski-Pudlak Syndrome* / genetics Humans Mammals Melanins / genetics Membrane Proteins / genetics Mice Mutation Oryzias* / genetics |
| IF | 2.781 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 3 |
| 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 | |
| メダカ | Tango (WS240) HNI-II (IB176) OK-Cab (MT830) hps1(del13) (MT1434) Tango-hps1(del14) (MT1435) |