Joenje H, Patel K J
Department of Clinical Genetics and Human Genetics, and Oncology Research Institute, Free University Medical Centre, Van der Boechorststraat 7, NL-1081 BT, Amsterdam, The Netherlands.
Nat Rev Genet. 2001 Jun;2(6):446-57. doi: 10.1038/35076590.
The past few years have witnessed a considerable expansion in our understanding of the pathways that maintain chromosome stability in dividing cells through the identification of genes that are mutated in certain human chromosome instability disorders. Cells that are derived from patients with Fanconi anaemia (FA) show spontaneous chromosomal instability and mutagen hypersensitivity, but FA poses a unique challenge as the nature of the DNA-damage-response pathway thought to be affected by the disease has long been a mystery. However, the recent cloning of most of the FA-associated genes, and the characterization of their protein products, has provided tantalizing clues as to the molecular basis of this disease.
在过去几年中，通过鉴定在某些人类染色体不稳定疾病中发生突变的基因，我们对维持分裂细胞中染色体稳定性的途径的理解有了显著扩展。来自范可尼贫血（FA）患者的细胞表现出自发性染色体不稳定和诱变超敏反应，但FA带来了独特的挑战，因为长期以来被认为受该疾病影响的DNA损伤反应途径的本质一直是个谜。然而，最近大多数与FA相关基因的克隆及其蛋白质产物的表征，为该疾病的分子基础提供了诱人的线索。
