A mutation in the gene for δ-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes

Daigo Sakamoto, Hisaaki Kudo, Keiji Inohaya, Hayato Yokoi, Takanori Narita, Kiyoshi Naruse, Hiroshi Mitani, Kazuo Araki, Akihiro Shima, Yuji Ishikawa, Yoshiyuki Imai, Akira Kudo

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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 δ-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.

Original languageEnglish
Pages (from-to)747-752
Number of pages6
JournalMechanisms of Development
Volume121
Issue number7-8
DOIs
Publication statusPublished - 2004 Jul

Keywords

  • ALAD-deficiency porphyria
  • Hypochromic anemia
  • Medaka
  • Oryzias latipes
  • Whiteout
  • δ-Aminolevulinic acid dehydratase

ASJC Scopus subject areas

  • Embryology
  • Developmental Biology

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