PUBLICATION

Pancytopenia and thrombosis defects in zebrafish mutants of Fanconi anemia genes

Authors
Raman, R., Ramanagoudr-Bhojappa, R., Dhinoja, S., Ramaswami, M., Carrington, B., Jagadeeswaran, P., Chandrasekharappa, S.C.
ID
ZDB-PUB-220107-15
Date
2021
Source
Blood cells, molecules & diseases   93: 102640 (Journal)
Registered Authors
Chandrasekharappa, Settara, Jagadeeswaran, Pudur
Keywords
Fanconi anemia, Pancytopenia, Thrombocytopenia, Zebrafish knockouts
MeSH Terms
  • Animals
  • DNA Damage
  • Fanconi Anemia*/genetics
  • Humans
  • Pancytopenia*/genetics
  • Thrombosis*/genetics
  • Zebrafish
(all 7)
PubMed
34991062 Full text @ Blood Cells Mol. Dis.
Abstract
Progressive pancytopenia is a common feature observed in DNA crosslink repair deficiency disorder, Fanconi anemia (FA). However, this phenotype has not been recapitulated in single FA gene knockout animal models. In this study, we analyzed hematological characteristics in zebrafish null mutants for two FA genes, fanca and fanco. In adult mutants, we demonstrate age-associated reduction in blood cell counts for all lineages, resembling progressive pancytopenia in FA patients. In larval mutants, we demonstrate vascular injury-induced thrombosis defects, particularly upon treatment with crosslinking agent diepoxybutane (DEB), indicating DNA damage induced inefficiency of thrombocytes.
Genes / Markers
Marker Marker Type Name
fancaGENEFA complementation group A
rad51cGENERAD51 paralog C
1 - 2 of 2
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Figures
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Expression
Phenotype
Fish Conditions Stage Phenotype Figure
fancahg41/hg41 (NHGRI-1)standard conditionsAdult
fancahg41/hg41 (NHGRI-1)standard conditionsAdult
fancahg41/hg41 (NHGRI-1)standard conditionsAdult
fancahg41/hg41 (NHGRI-1)light damage: caudal arteryDay 5
fancahg41/hg41 (NHGRI-1)chemical treatment by environment: diepoxybutane, light damage: caudal arteryDay 5
fancahg41/hg41 (NHGRI-1)light damage: caudal veinDay 5
fancahg41/hg41 (NHGRI-1)chemical treatment by environment: diepoxybutane, light damage: caudal veinDay 5
rad51chg65/hg65 (NHGRI-1)standard conditionsAdult
rad51chg65/hg65 (NHGRI-1)standard conditionsAdult
rad51chg65/hg65 (NHGRI-1)standard conditionsAdult
1 - 10 of 14
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Mutations / Transgenics
Allele Construct Type Affected Genomic Region
hg41
    		Small Deletion
    hg65
      		Indel
      1 - 2 of 2
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      Human Disease / Model
      Human Disease Fish Conditions Evidence
      Fanconi anemiafancahg41/hg41 (NHGRI-1)standard conditionsTAS
      Fanconi anemiarad51chg65/hg65 (NHGRI-1)standard conditionsTAS
      1 - 2 of 2
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      Sequence Targeting Reagents
      No data available
      Fish
      Fish
      fancahg41/hg41 (NHGRI-1)
      rad51chg65/hg65 (NHGRI-1)
      1 - 2 of 2
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      Antibodies
      Orthology
      Engineered Foreign Genes
      No data available
      Mapping
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      Citation
      Raman, R., Ramanagoudr-Bhojappa, R., Dhinoja, S., Ramaswami, M., Carrington, B., Jagadeeswaran, P., Chandrasekharappa, S.C. (2021) Pancytopenia and thrombosis defects in zebrafish mutants of Fanconi anemia genes. Blood cells, molecules & diseases. 93:102640.