Cloning of cDNAs for Fanconi's anaemia by functional complementation

CA Strathdee, H Gavish, WR Shannon, M Buchwald - Nature, 1992 - nature.com
CA Strathdee, H Gavish, WR Shannon, M Buchwald
Nature, 1992nature.com
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 …
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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