de Winter J P, Waisfisz Q, Rooimans M A, van Berkel C G, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk J C, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
Nat Genet. 1998 Nov;20(3):281-3. doi: 10.1038/3093.
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.
范可尼贫血（FA）是一种常染色体隐性疾病，具有多种临床症状，包括发育异常、骨髓衰竭和早期发生恶性肿瘤。除了自发的染色体不稳定性外，FA细胞还表现出细胞周期紊乱以及对交联剂的超敏反应。已区分出八个互补组（A - H），每组可能代表一个不同的FA基因。互补组A（FANCA；参考文献4,5）和C（FANCC；参考文献6）患者中发生突变的基因已被鉴定出来，并且FANCD已被定位到染色体带3p22 - 26（参考文献7）。最近，另一个FA基因已被定位到9号染色体p臂（参考文献8）。在此，我们报告基于对一种FA - G细胞系的互补作用以及四名FA - G患者中存在致病突变，鉴定出了在G组中发生突变的基因FANCG。我们将该基因鉴定为人XRCC9，该基因已被证明可互补对丝裂霉素C敏感的中国仓鼠突变体UV40，并且怀疑其参与DNA复制后修复或细胞周期检查点控制。该基因定位于染色体带9p13（参考文献9），与一个已知的FA基因定位相对应。
