Center of Growth Metabolism and Aging, State Key Laboratory of Oral Disease, West China Hospital of Stomatology, Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education, Animal Disease Prevention and Food Safety Key Laboratory of Sichuan Province, College of Life Sciences, Sichuan University, Chengdu, China.
National Clinical Research Center for Geriatrics and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
PLoS Pathog. 2024 Jul 8;20(7):e1012344. doi: 10.1371/journal.ppat.1012344. eCollection 2024 Jul.
AAV-mediated gene therapy typically requires a high dose of viral transduction, risking acute immune responses and patient safety, part of which is due to limited understanding of the host-viral interactions, especially post-transduction viral genome processing. Here, through a genome-wide CRISPR screen, we identified SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain 1), an epigenetic modifier, as a critical broad-spectrum restricting host factor for post-entry AAV transgene expression. SMCHD1 knock-down by RNAi and CRISPRi or knock-out by CRISPR all resulted in significantly enhanced transgene expression across multiple viral serotypes, as well as for both single-strand and self-complementary AAV genome types. Mechanistically, upon viral transduction, SMCHD1 effectively repressed AAV transcription by the formation of an LRIF1-HP1-containing protein complex and directly binding with the AAV genome to maintain a heterochromatin-like state. SMCHD1-KO or LRIF1-KD could disrupt such a complex and thus result in AAV transcriptional activation. Together, our results highlight the host factor-induced chromatin remodeling as a critical inhibitory mechanism for AAV transduction and may shed light on further improvement in AAV-based gene therapy.
AAV 介导的基因治疗通常需要高剂量的病毒转导,这存在急性免疫反应和患者安全风险,部分原因是对宿主-病毒相互作用的了解有限,特别是在病毒基因组转导后处理方面。在这里,我们通过全基因组 CRISPR 筛选,鉴定了结构维持染色体铰链域 1(SMCHD1),一种表观遗传修饰因子,作为一种关键的广谱限制宿主因子,用于病毒进入后 AAV 转基因的表达。通过 RNAi 和 CRISPRi 敲低 SMCHD1 或通过 CRISPR 敲除 SMCHD1,均导致多种病毒血清型以及单链和自互补 AAV 基因组类型的转基因表达显著增强。从机制上讲,在病毒转导后,SMCHD1 通过形成含有 LRIF1-HP1 的蛋白复合物有效地抑制 AAV 转录,并直接与 AAV 基因组结合,以维持异染色质样状态。SMCHD1-KO 或 LRIF1-KD 可以破坏这种复合物,从而导致 AAV 转录激活。总之,我们的研究结果强调了宿主因子诱导的染色质重塑是 AAV 转导的一种关键抑制机制,并可能为进一步改进基于 AAV 的基因治疗提供思路。