Genome-wide CRISPR screenings identified SMCHD1 as a host-restricting factor for AAV transduction

PLoS Pathog. 2024 Jul 8;20(7):e1012344. doi: 10.1371/journal.ppat.1012344. eCollection 2024 Jul.

Abstract

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.

MeSH terms

  • CRISPR-Cas Systems
  • Chromosomal Proteins, Non-Histone* / genetics
  • Chromosomal Proteins, Non-Histone* / metabolism
  • Clustered Regularly Interspaced Short Palindromic Repeats
  • Dependovirus* / genetics
  • Genetic Therapy / methods
  • Genome, Viral
  • HEK293 Cells
  • Humans
  • Transduction, Genetic*

Substances

  • Chromosomal Proteins, Non-Histone
  • SMCHD1 protein, human

Grants and funding

This work was supported by the National Key Research and Development Program of China (2022YFA1104401 for H.C., 2021YFA1100601 for Z.L.), National Natural Science Foundation of China (32071455 for Z.L.), Key Research and Development Program of Sichuan Province (2021ZDZX0010 for Z.L.), SCU grant (020SCUNL109 for Z.L.), Research and Develop Program, West China Hospital of Stomatology Sichuan University (RD-03-202106 for Z.L.) and the Fundamental Research Funds for the Central Universities (SCU2019D013 for Z.L.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.