Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

J. R. Lo Ten Foe, M. A. Rooimans, L. Bosnoyan-Collins, N. Alon, M. Wijker, L. Parker, J. Lightfoot, M. Carreau, D. F. Callen, A. Savoia, N. C. Cheng, C. G. van Berkel, M. H. Strunk, J. J. Gille, G. Pals, F. A. Kruyt, J. C. Pronk, F. Arwert, M. Buchwald, H. Joenje

Research output: Contribution to journalArticlepeer-review


Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65% of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.

Original languageEnglish
Pages (from-to)320-323
Number of pages4
JournalNature Genetics
Issue number3
Publication statusPublished - Nov 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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