Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA - PubMed (original) (raw)

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

Affiliations

PMID: 8896563
DOI: 10.1038/ng1196-320

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

J R Lo Ten Foe et al. Nat Genet. 1996 Nov.

Erratum in

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Foe JR, et al. Nat Genet. 1996 Dec;14(4):488. doi: 10.1038/ng1296-488. Nat Genet. 1996. PMID: 8944034 No abstract available.

Abstract

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.

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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA - PubMed (original) (raw)