Isolation of a cDNA representing the fanconi anemia complementation group E gene

Johan P. De Winter, France Léveillé, Carola G.M. Van Berkel, Martin A. Rooimans, Laura Van Der Weel, Jurgen Steltenpool, Ilja Demuth, Neil V. Morgan, Noa Alon, Lucine Bosnoyan-Collins, Jeff Lightfoot, Peter A. Leegwater, Quinten Waisfisz, Kenshi Komatsu, Fré Arwert, Jan C. Pronk, Christopher G. Mathew, Martin Digweed, Manuel Buchwald, Hans Joenje

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1306-1308
Number of pages3
JournalAmerican journal of human genetics
Issue number5
Publication statusPublished - 2000

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