RRC ID 2872
Author Sakamoto D, Kudo H, Inohaya K, Yokoi H, Narita T, Naruse K, Mitani H, Araki K, Shima A, Ishikawa Y, Imai Y, Kudo A.
Title A mutation in the gene for delta-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes.
Journal 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.
Volume 121(7-8)
Pages 747-52
Published 2004-7
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 1.9
Times Cited 18
Medaka Qurt (MT828) HNI-II (IB176)