title: The Fanconi anaemia group G gene FANCG is identical with XRCC9.
abstract: Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms including developmental anomalies, bone marrow failure and early occurrence of malignancies. In addition to spontaneous chromosome instability, FA cells exhibit cell cycle disturbances and hypersensitivity to cross-linking agents. Eight complementation groups (A-H) have been distinguished, each group possibly representing a distinct FA gene. The genes mutated in patients of complementation groups A (FANCA; refs 4,5) and C (FANCC; ref. 6) have been identified, and FANCD has been mapped to chromosome band 3p22-26 (ref. 7). An additional FA gene has recently been mapped to chromosome 9p (ref. 8). Here we report the identification of the gene mutated in group G, FANCG, on the basis of complementation of an FA-G cell line and the presence of pathogenic mutations in four FA-G patients. We identified the gene as human XRCC9, a gene which has been shown to complement the MMC-sensitive Chinese hamster mutant UV40, and is suspected to be involved in DNA post-replication repair or cell cycle checkpoint control. The gene is localized to chromosome band 9p13 (ref. 9), corresponding with a known localization of an FA gene.
authors.affiliation: Department of Human Genetics, Free University, Amsterdam, The Netherlands.
authors.forename: J P
authors.initials: JP
authors.lastname: de Winter
authors.forename: Q
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: M A
authors.initials: MA
authors.lastname: Rooimans
authors.forename: C G
authors.initials: CG
authors.lastname: van Berkel
authors.forename: L
authors.initials: L
authors.lastname: Bosnoyan-Collins
authors.forename: N
authors.initials: N
authors.lastname: Alon
authors.forename: M
authors.initials: M
authors.lastname: Carreau
authors.forename: O
authors.initials: O
authors.lastname: Bender
authors.forename: I
authors.initials: I
authors.lastname: Demuth
authors.forename: D
authors.initials: D
authors.lastname: Schindler
authors.forename: J C
authors.initials: JC
authors.lastname: Pronk
authors.forename: F
authors.initials: F
authors.lastname: Arwert
authors.forename: H
authors.initials: H
authors.lastname: Hoehn
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: D020121:5' Untranslated Regions; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006224:Cricetinae; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D052241:Fanconi Anemia Complementation Group G Protein; D005260:Female; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D020121:5' Untranslated Regions; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C499909:FANCG protein, human; D052241:Fanconi Anemia Complementation Group G Protein