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
- 322Citations
- 60Captures
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Metrics Details
- Citations322
- Citation Indexes321
- CrossRef321
- 304
- Policy Citations1
- 1
- Captures60
- Readers60
- 60
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
Springer Science and Business Media LLC
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