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Cloning of cDNAs for Fanconi's anaemia by functional complementation
C A Strathdee1, H Gavish, W R Shannon
1Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Nature
|April 30, 1992
Summary
Researchers identified a new gene, FACC, responsible for Fanconi
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Fanconi's anemia is a rare genetic disorder.
- It causes pancytopenia and DNA crosslinking sensitivity.
- Four complementation groups are known.
Purpose of the Study:
- Identify the gene responsible for Fanconi's anemia group C.
- Understand the genetic basis of DNA repair defects.
Main Methods:
- Functional complementation assay.
- Cloning of complementary DNAs (cDNAs).
- Gene sequencing and analysis.
Main Results:
- Isolated cDNAs that correct the defect in group C cells.
- Identified a new gene, FACC, mutated in group C patients.
- FACC polypeptide has no known functional motifs.
Conclusions:
- FACC is a novel gene involved in DNA damage response.
- Mutations in FACC cause Fanconi's anemia group C.
- This discovery advances understanding of DNA repair pathways.
