title: Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
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.
authors.affiliation: Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL-1081 BT Amsterdam, The Netherlands.
authors.forename: J P
authors.initials: JP
authors.lastname: de Winter
authors.forename: F
authors.initials: F
authors.lastname: Léveillé
authors.forename: C G
authors.initials: CG
authors.lastname: van Berkel
authors.forename: M A
authors.initials: MA
authors.lastname: Rooimans
authors.forename: L
authors.initials: L
authors.lastname: van Der Weel
authors.forename: J
authors.initials: J
authors.lastname: Steltenpool
authors.forename: I
authors.initials: I
authors.lastname: Demuth
authors.forename: N V
authors.initials: NV
authors.lastname: Morgan
authors.forename: N
authors.initials: N
authors.lastname: Alon
authors.forename: L
authors.initials: L
authors.lastname: Bosnoyan-Collins
authors.forename: J
authors.initials: J
authors.lastname: Lightfoot
authors.forename: P A
authors.initials: PA
authors.lastname: Leegwater
authors.forename: Q
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: K
authors.initials: K
authors.lastname: Komatsu
authors.forename: F
authors.initials: F
authors.lastname: Arwert
authors.forename: J C
authors.initials: JC
authors.lastname: Pronk
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
authors.forename: M
authors.initials: M
authors.lastname: Digweed
authors.forename: M
authors.initials: M
authors.lastname: Buchwald
authors.forename: H
authors.initials: H
authors.lastname: Joenje
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001459:Bangladesh / Q000208:ethnology; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics*; D052239:Fanconi Anemia Complementation Group E Protein; D005816:Genetic Complementation Test; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D019913:Nuclear Localization Signals; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
chemical_list: D018076:DNA, Complementary; C499907:FANCE protein, human; D052239:Fanconi Anemia Complementation Group E Protein; D019913:Nuclear Localization Signals; D009687:Nuclear Proteins