Institut Pasteur, Département Génomes & Génétique, 25 rue du Dr Roux, 75015 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, IFD, 4 Place Jussieu, 75252 Paris Cedex 05, France; CNRS, UMR3525, 75015 Paris, France.
Institut Pasteur, Département Génomes & Génétique, 25 rue du Dr Roux, 75015 Paris, France; CNRS, UMR3525, 75015 Paris, France.
Cell Rep. 2018 Feb 20;22(8):2146-2159. doi: 10.1016/j.celrep.2018.01.083.
Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington's disease. Because expansions trigger the disease, contracting repeat length could be a possible approach to gene therapy for these disorders. Here, we show that a TALEN-induced double-strand break was very efficient at contracting expanded CTG repeats in yeast. We show that RAD51, POL32, and DNL4 are dispensable for double-strand break repair within CTG repeats, the only required genes being RAD50, SAE2, and RAD52. Resection was totally abolished in the absence of RAD50 on both sides of the break, whereas it was reduced in a sae2Δ mutant on the side of the break containing the longest repeat tract, suggesting that secondary structures at double-strand break ends must be removed by the Mre11-Rad50 complex and Sae2. Following the TALEN double-strand break, single-strand annealing occurred between both sides of the repeat tract, leading to repeat contraction.
三核苷酸重复扩展涉及 CTG/CAG 三核苷酸重复,是几种神经退行性疾病的病因,包括强直性肌营养不良和亨廷顿病。由于扩展引发疾病,缩短重复长度可能是这些疾病基因治疗的一种可行方法。在这里,我们表明 TALEN 诱导的双链断裂在酵母中非常有效地缩短了扩展的 CTG 重复。我们表明,RAD51、POL32 和 DNL4 对于 CTG 重复内的双链断裂修复是可有可无的,唯一必需的基因是 RAD50、SAE2 和 RAD52。如果在断裂两侧都没有 RAD50,切除则完全被阻断,而在含有最长重复片段的断裂一侧的 sae2Δ 突变体中,切除则被减少,这表明双链断裂末端的二级结构必须由 Mre11-Rad50 复合物和 Sae2 去除。在 TALEN 双链断裂之后,单链退火发生在重复片段的两侧,导致重复缩短。