1. Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
- Author
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de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, and Joenje H
- Subjects
- Alternative Splicing genetics, Amino Acid Sequence, Bangladesh ethnology, Cloning, Molecular, DNA, Complementary genetics, Exons genetics, Fanconi Anemia Complementation Group E Protein, Humans, Introns genetics, Molecular Sequence Data, Nuclear Localization Signals, Nuclear Proteins chemistry, Turkey ethnology, Fanconi Anemia genetics, Genetic Complementation Test, Mutation genetics, Nuclear Proteins genetics
- Abstract
Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.
- Published
- 2000
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