Revay T, King W A
Department of Biomedical Sciences, University of Guelph, Guelph, Ont., Canada.
Cytogenet Genome Res. 2012;136(2):107-16. doi: 10.1159/000335749. Epub 2012 Jan 26.
Mammalian genome replication and maintenance are intimately coupled with the mechanisms that ensure cohesion between the resultant sister chromatids and the repair of DNA breaks. Although a sister chromatid exchange (SCE) is an error-free swapping of precisely matched and identical DNA strands, repetitive elements adjacent to the break site can act as alternative template sites and an unequal sister chromatid exchange can result, leading to structural variations and copy number change. Here we test the vulnerability for SCEs of the repeat-rich bovine Y chromosome in comparison with X, 16 and 26 chromosomes, using chromosome orientation-fluorescence in situ hybridization. The mean SCE rate of the Y chromosome (0.065 ± 0.029) was similar to that of BTA16 and BTA26 (0.065, 0.055), but was only approximately half of that of the X chromosome (0.142). As the chromosomal length affects the number of SCE events, we adjusted the SCE rates of the Y, 16, and 26 chromosomes to the length of the largest chromosome X resulting in very similar adjusted SCE (SCE(adj)) rates in all categories. Our results - based on 3 independent bulls - show that, although the cattle Y chromosome is a chest full of repeated elements, their presence and the documented activity of repeats in SCE formation does not manifest in significantly higher SCE(adj) rates and suggest the importance of the structural organization of the Y chromosome and the role of alternative mitotic DNA repair mechanisms.
哺乳动物基因组的复制与维持与确保姐妹染色单体间黏连以及DNA断裂修复的机制密切相关。尽管姐妹染色单体交换(SCE)是精确匹配且相同的DNA链之间无差错的交换,但断裂位点附近的重复元件可充当替代模板位点,从而导致不等姐妹染色单体交换,进而引起结构变异和拷贝数变化。在此,我们使用染色体定向荧光原位杂交技术,将富含重复序列的牛Y染色体与X、16和26号染色体进行比较,测试其发生SCE的易感性。Y染色体的平均SCE率(0.065±0.029)与BTA16和BTA26的平均SCE率(0.065、0.055)相似,但仅约为X染色体平均SCE率(0.142)的一半。由于染色体长度会影响SCE事件的数量,我们将Y、16和26号染色体的SCE率调整为最大染色体X的长度,结果所有类别中的调整后SCE(SCE(adj))率非常相似。我们基于3头独立公牛的研究结果表明,尽管牛Y染色体富含重复元件,但其存在以及在SCE形成中重复序列的记录活性并未表现为显著更高的SCE(adj)率,这表明Y染色体结构组织的重要性以及替代性有丝分裂DNA修复机制的作用。