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从原始到成熟生殖细胞的发育过程中,生殖细胞是处于DNA复制、链间交换和重组的活跃期,也是DNA损伤的高峰期。范可尼贫血(FA)基因是一组在同源重组修复DNA链间交联损伤中起核心作用的分子。FA基因通过促进原始生殖细胞增生,调控生殖细胞减数分裂的同源重组DNA损伤修复,抑制减数分裂中交叉形成和促进霍利迪交叉的解除等方面来调节生殖细胞发育。此外,FA基因表达影响胚胎质量和参与卵巢衰老的调节;这些功能的正常运行对保持哺乳动物生殖细胞基因组的稳定性起着至关重要的作用。
During the development of primordial to mature germ cells, germ cells are in an active phase of DNA replication, interchain exchange and recombination, and also the peak of DNA damage. The Fanconi anemia (FA) gene is a group of molecules that play a central role in homologous recombination in repairing cross-linked damage between DNA strands. FA gene regulates germ cell development by promoting primordial germ cell proliferation, regulating homologous recombination DNA damage of germ cell meiosis, inhibiting cross-formation in meiosis and promoting the release of Holliday crossing. In addition, FA gene expression affects embryo quality and participates in the regulation of ovarian aging; the normal functioning of these functions plays a crucial role in maintaining the stability of the mammalian germ cell genome.