Positional cloning of a novel Fanconi anemia gene, FANCD2

Cynthia Timmers, Toshiyasu Taniguchi, James Hejna, Carol Reifsteck, Lora Lucas, Donald Bruun, Matthew Thayer, Barbara Cox, Susan Olson, Alan D. D'Andrea, Robb Moses, Markus Grompe

Research output: Contribution to journalArticlepeer-review

336 Scopus citations


Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC SENSITIVITY.

Original languageEnglish (US)
Pages (from-to)241-248
Number of pages8
JournalMolecular Cell
Issue number2
StatePublished - 2001

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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