Cloning of cDNAs for Fanconi's anaemia by functional complementation
- 30 April 1992
- journal article
- research article
- Published by Springer Nature in Nature
- Vol. 356 (6372) , 763-767
- https://doi.org/10.1038/356763a0
Abstract
Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pan-cytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.Keywords
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