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A mutation in the gene for delta-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes
https://repo.qst.go.jp/records/43437
https://repo.qst.go.jp/records/434370f17721c-c0f7-47a9-bed8-282fe7aa9507
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2004-07-02 | |||||
| タイトル | ||||||
| タイトル | A mutation in the gene for delta-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Sakamoto, Daigo
× Sakamoto, Daigo× Kudou, Hisaaki× Inohaya, Keiji× Yokoi, Hayato× Narita, Takanori× Naruse, Kiyoshi× Mitani, Takashi× Araki, Kazuo× Shima, Akihiro× Ishikawa, Yuuji× Imai, Yoshiyuki× Kudou, Akira× 工藤 久明× 石川 裕二 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | A genetic screen for mutations affecting embryogenesis in the medaka, Oryzias latipes, identified a mutant, whiteout (who), that exhibited hypochromic anemia. The who mutant initially had the normal number of blood cells, but it then gradually decreased during the embryonic and larval stages. The blood cells in the who mutants show an elongated morphology and little hemoglobin activity. Genetic mappinng localized who to the vicinity of a LG12 marker, olgcl. By utilizing the highly conserved synteny between medaka and pufferfish, we identified a gene for delta-aminolevulinic acid dehydratase(ALAD), which is the second enzyme in the heme synthetic pathway, as a candidate for who. We found a missense mutation in the alad gene that was tightly linked to the who phenotype, strongly suggesting that the hypochromic anemia phenotype in the who mutant is caused by a loss of the alad function. Thus, who mutants represent a model for the human disease ALAD-deficiency porphyria. | |||||
| 書誌情報 |
Mechanisms of Development 巻 121, p. 747-752, 発行日 2004-07 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0925-4773 | |||||
