Department of Chemistry, Washington University, St. Louis, Missouri 63130, USA.
J Biol Chem. 2011 Feb 25;286(8):6329-35. doi: 10.1074/jbc.M110.183178. Epub 2010 Dec 15.
C to T mutation hotspots in skin cancers occur primarily at methylated CpG sites that coincide with sites of UV-induced cyclobutane pyrimidine dimer (CPD) formation. These mutations are proposed to arise from the insertion of A by DNA polymerase η opposite the T that results from deamination of the methylC ((m)C) within the CPD. Although the frequency of CPD formation and repair is modestly modulated by its rotational position within a nucleosome, the effect of position on the rate of (m)C deamination in a CPD has not been previously studied. We now report that deamination of a T(m)C CPD whose sugar phosphate backbone is positioned against the histone core surface decreases by a factor of 4.7, whereas that of a T(m)C CPD positioned away from the surface increases by a factor of 8.9 when compared with unbound DNA. Because the (m)Cs undergoing deamination are in similar steric environments, the difference in rate appears to be a consequence of a difference in the flexibility and compression of the two sites due to DNA bending. Considering that formation of the CPD positioned away from the surface is also enhanced by a factor of two, a T(m)CG site in this position might be expected to have up to an 84-fold higher probability of resulting in a UV-induced (m)C to T mutation than one positioned against the surface. These results indicate that rotational position may play an important role in the formation of UV-induced C to T mutation hotspots, as well as in the mutagenic mechanism of other DNA lesions.
皮肤癌中的 C 到 T 突变热点主要发生在与紫外线诱导的环丁烷嘧啶二聚体 (CPD) 形成部位重合的甲基化 CpG 位点。这些突变被认为是由 DNA 聚合酶 η 在 CPD 中甲基 C((m)C)脱氨产生的 T 碱基对面插入 A 碱基引起的。尽管 CPD 形成和修复的频率通过其在核小体中的旋转位置适度调节,但 CPD 中 (m)C 脱氨的位置对其速率的影响尚未被先前研究过。我们现在报告说,与未结合的 DNA 相比,糖磷酸骨架位于组蛋白核心表面的 T(m)C CPD 的脱氨率降低了 4.7 倍,而远离表面的 T(m)C CPD 的脱氨率增加了 8.9 倍。由于发生脱氨的 (m)Cs 处于相似的空间环境,因此速率差异似乎是由于 DNA 弯曲导致两个位点的灵活性和压缩程度不同所致。考虑到远离表面形成的 CPD 也增强了两倍,因此处于该位置的 T(m)CG 位点可能比位于表面的位点更容易导致紫外线诱导的(m)C 到 T 突变,其概率高达 84 倍。这些结果表明,旋转位置可能在紫外线诱导的 C 到 T 突变热点的形成以及其他 DNA 损伤的诱变机制中发挥重要作用。