| RRC ID |
2872
|
| 著者 |
Sakamoto D, Kudo H, Inohaya K, Yokoi H, Narita T, Naruse K, Mitani H, Araki K, Shima A, Ishikawa Y, Imai Y, Kudo A.
|
| タイトル |
A mutation in the gene for delta-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes.
|
| ジャーナル |
Mech Dev
|
| Abstract |
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 mapping localized who to the vicinity of a LG12 marker, olgc1. 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.
|
| 巻・号 |
121(7-8)
|
| ページ |
747-52
|
| 公開日 |
2004-7-1
|
| DOI |
10.1016/j.mod.2004.03.030
|
| PII |
S0925477304000784
|
| PMID |
15210182
|
| MeSH |
Anemia, Hypochromic / genetics*
Anemia, Hypochromic / metabolism
Animals
Chromosome Mapping
Gene Expression Profiling
Heart / embryology
Oryzias / genetics*
Oryzias / metabolism
Porphobilinogen Synthase / genetics*
Porphobilinogen Synthase / metabolism
Takifugu / genetics
|
| IF |
2.126
|
| 引用数 |
21
|
|
WOS 分野
|
DEVELOPMENTAL BIOLOGY
|
| リソース情報 |
| メダカ |
Qurt (MT828)
HNI-II (IB176) |
