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*
(all 20)
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
Marker Marker Type Name
alas1GENEaminolevulinate, delta-, synthase 1
alas2GENEaminolevulinate, delta-, synthase 2
hbae1.1GENEhemoglobin, alpha embryonic 1.1
hbae3GENEhemoglobin alpha embryonic-3
hbbe1.1GENEhemoglobin beta embryonic-1.1
hbbe2GENEhemoglobin beta embryonic-2
hbbe3GENEhemoglobin beta embryonic-3
1 - 7 of 7
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Figures
No images available
Expression
Phenotype
No data available
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
tb223
    		Point Mutation
    ty121
      		Point Mutation
      1 - 2 of 2
      Show
      Human Disease / Model
      Sequence Targeting Reagents
      Fish
      Antibodies
      Orthology
      Engineered Foreign Genes
      No data available
      Mapping
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      Citation
      Brownlie, A., Donovan, A., Pratt, S.J., Paw, B.H., Oates, A.C., Brugnara, C., Witkowska, H.E., Sassa, S., and Zon, L.I. (1998) Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. Nature Genetics. 20:244-250.