Nature Genetics
20, 281 - 283 (1998)
doi:10.1038/3093
The Fanconi anaemia group G gene FANCG is identical with XRCC9Johan P. de Winter1, 5, Quinten Waisfisz1, 5, Martin A. Rooimans1, Carola G.M. van Berkel1, Lucine Bosnoyan-Collins2, Noa Alon2, Madeleine Carreau2, Olaf Bender3, Ilja Demuth3, Detlev Schindler4, Jan C. Pronk1, Fré Arwert1, Holger Hoehn4, Martin Digweed3, Manuel Buchwald2
& Hans Joenje11
Department of Human Genetics, Free University, Van
der Boechorststraat 7, NL-1081 BT Amsterdam,
The Netherlands. 2
Program in Genetics and Genomic Biology, Research Institute,
The Hospital for Sick Children, 555 University Avenue,
Department of Molecular and Medical Genetics, The University of Toronto,
Toronto, Ontario, Canada. 3
Institut für Humangenetik, Charité-Campus
Virchow-Klinikum, Humboldt Universität Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany. 4
Institut für Humangenetik, Universität Würzburg,
Biozentrum Am Hubland, D-8700 Würzburg,
Germany. 5
These authors contributed equally to this work.
Correspondence should be addressed to Hans Joenje h.joenje.humgen@med.vu.nlFanconi anemia (FA) is an autosomal recessive disease with diverse clinical
symptoms including developmental anomalies, bone marrow failure and early
occurrence of malignancies1. In addition to spontaneous chromosome
instability, FA cells exhibit cell cycle disturbances and hypersensitivity
to cross-linking agents1. Eight complementation groups (A-H)
have been distinguished2, each group possibly representing a
distinct FA gene3. 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 control9,
10. The gene is localized to chromosome
band 9p13 (ref. 9), corresponding with a known
localization of an FA gene.
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