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

Authors
de Winter, JP Leveille, F van Berkel, CGM 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 Joenje, H
Citation
Jp. De Winter et al., Isolation of a cDNA representing the Fanconi anemia complementation group E gene, AM J HU GEN, 67(5), 2000, pp. 1306-1308
Citations number
17
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
67
Issue
5
Year of publication
2000
Pages
1306 - 1308
Database
ISI
SICI code
0002-9297(200011)67:5<1306:IOACRT>2.0.ZU;2-Z
Abstract
Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndr ome with at least seven different complementation groups, Four FA genes (FA NCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by c omplementation 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.