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Expression cloning of a cdna for the major fanconi anaemia gene, FAA

Nature Genetics, ISSN: 1546-1718, Vol: 14, Issue: 3, Page: 320-323
1996
  • 322
    Citations
  • 0
    Usage
  • 60
    Captures
  • 0
    Mentions
  • 1
    Social Media
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Metrics Details

  • Citations
    322
  • Captures
    60
  • Social Media
    1
    • Shares, Likes & Comments
      1
      • Facebook
        1

Letter Description

Fanconi anaemia (FA) is an autosomal recessive dis-order 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 (Mr 162,752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization. © 1996 Nature Publishing Group.

Bibliographic Details

Jerome R. Lo Ten Foe; Martin A. Rooimans; Lucine Bosnoyan-Collins; Noa Alon; Mario Wijker; Linda Parker; Jeff Lightfoot; Madeleine Carreau; David F. Callen; Anna Savoia; Ngan C. Cheng; Carola G.M. van Berkel; Mark H.P. Strunk; Johan J.P. Gille; Gerard Pals; Frank A.E. Kruyt; Jan C. Pronk; Fré Arwert; Manuel Buchwald; Hans Joenje

Springer Science and Business Media LLC

Biochemistry, Genetics and Molecular Biology

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