PUBLICATION

Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia

Authors
Brownlie, A., Donovan, A., Pratt, S.J., Paw, B.H., Oates, A.C., Brugnara, C., Witkowska, H.E., Sassa, S., and Zon, L.I.
ID
ZDB-PUB-981208-39
Date
1998
Source
Nature Genetics   20: 244-250 (Journal)
Registered Authors
Brownlie, Alison J., Donovan, Adriana, Oates, Andrew, Paw, Barry, Pratt, Stephen J., Zon, Leonard I.
Keywords
none
MeSH Terms
  • 5-Aminolevulinate Synthetase/genetics*
  • Amino Acid Sequence
  • Anemia, Sideroblastic/congenital
  • Anemia, Sideroblastic/enzymology*
  • Anemia, Sideroblastic/genetics*
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • DNA, Complementary/genetics
  • Disease Models, Animal
  • Hemoglobins/biosynthesis
  • Hemoglobins/genetics
  • Humans
  • Isoenzymes/genetics*
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Sequence Homology, Amino Acid
  • Zebrafish/genetics*
PubMed
9806542 Full text @ Nat. Genet.
Abstract
Many human anaemias are caused by defects in haemoglobin synthesis. The zebrafish mutant sauternes (sau) has a microcytic, hypochromic anaemia, suggesting that haemoglobin production is perturbed. During embryogenesis, sau mutants have delayed erythroid maturation and abnormal globin gene expression. Using positional cloning techniques, we show that sau encodes the erythroid-specific isoform of delta-aminolevulinate synthase (ALAS2; also known as ALAS-E), the enzyme required for the first step in haem biosynthesis. As mutations in ALAS2 cause congenital sideroblastic anaemia (CSA) in humans, sau represents the first animal model of this disease.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes