The Fanconi anaemia group G gene FANCG is identical with XRCC9
| Autor: | Martin Digweed, Madeleine Carreau, Bender O, Jan C. Pronk, de Winter Jp, Quinten Waisfisz, van Berkel Cg, Fré Arwert, Detlev Schindler, Bosnoyan-Collins L, Holger Hoehn, Ilja Demuth, Martin A. Rooimans, Hans Joenje, Noa Alon, Manuel Buchwald |
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| Přispěvatelé: | Human genetics, Pediatric surgery, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers |
| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Male
Fanconi anemia complementation group C DNA Complementary Molecular Sequence Data Genes Recessive Biology Cell Line FANCF Fanconi anemia FANCG Cricetinae FANCD2 Genetics medicine Animals Humans Fanconi Anemia Complementation Group G Protein Base Sequence Genetic Complementation Test Chromosome Mapping medicine.disease Molecular biology FANCA FANCB Pedigree Complementation DNA-Binding Proteins Fanconi Anemia Phenotype Mutation Female 5' Untranslated Regions Chromosomes Human Pair 9 |
| Zdroj: | Nature Genetics, 20(3), 281-283. Nature Publishing Group de Winter, JP, Waisfisz, Q, Rooimans, MA, van Berkel, CGM, Bosnoyan-Collins, L, Alon, N, Carreau, M, Bender, O, Demuth, I, Schindler, D, Pronk, JC, Arwert, F, Hoehn, H, Digweed, M, Buchwald, M & Joenje, H 1998, ' The Fanconi anaemia group G gene FANCG is identical with XRCC9 ', Nature Genetics, vol. 20, no. 3, pp. 281-283 . https://doi.org/10.1038/3093 |
| ISSN: | 1061-4036 |
| Popis: | Fanconi 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. |
| Databáze: | OpenAIRE |
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