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.
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Strathdee, C., Gavish, H., Shannon, W. et al. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356, 763–767 (1992). https://doi.org/10.1038/356763a0
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DOI: https://doi.org/10.1038/356763a0
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