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Keller, T. S.

Publications and source records attributed to Keller, T. S..

2 recordsLinked to original sources

Comprehensive engineering of the CasX-Editor to generate a therapeutically optimized genome editor

CRISPR-based genetic modification is enabling curative, one-time treatments, but extending its use to more diseases will require increasing potency at low doses while avoiding unintended genomic modification. CRISPR technologies derive from microbial nucleases, such as Cas9, whose properties evolved for antiviral defense rather than precision editing in human cells. Although these systems can be engineered for greater activity or specificity, improving both properties to meet the challenges of in vivo delivery in large animals remains challenging. Here we used iterative molecular engineering of the Cas12e protein and its guide RNA to produce the X-Editor (XE), a compact nuclease platform that combines robust in vivo activity with exceptional genomic specificity. Screening tens of thousands of protein variants and guide designs and iteratively testing and combining beneficial mutations yielded an enzyme with more than 100-fold higher editing activity in human cells. Cryo-electron microscopy revealed novel inter- and intramolecular interactions driving enhanced function. XE mRNA was delivered to nonhuman primate liver via lipid nanoparticle with guides for two distinct targets. At both targets, XE demonstrated greater editing at lower doses than comparable preclinical data from Cas9-based therapies that are now in clinical testing. No off-target editing was detected for either guide in full specificity assessments performed in primary human hepatocytes at doses tenfold above the on-target effective concentration (EC90). These findings establish that more potent in vivo editing and stringent genomic specificity can be jointly engineered into a naturally compact CRISPR system for delivery using adeno-associated virus (AAV) or lipid nanoparticle (LNP) delivery strategies. These results provide a new foundation for advanced genetic medicines that demand lower dosing and greatly reduced off-target risk.

molecular biology↗

Engineered Allosteric Control Enhances Specificity and Potency of CRISPR-CasX-based Epigenetic Repressors

Epigenetic silencers are targeted therapeutics capable of persistently silencing genes without altering DNA sequence. However, many current silencers rely on direct fusion of a constitutively active DNA methyltransferase catalytic domain, that may cause off-target DNA methylation and cellular toxicity. In contrast, endogenous DNA methyltransferases contain a regulatory domain (ADD) that requires recognition of a permissive histone state before DNA methylation can occur. We reinstate this sequential proofreading logic in a compact CasX-based epigenetic repressor, generating Epigenetic Long-term CasX Repressors (ELXRs) that read local chromatin state before writing DNA methylation. In ELXRs, a repressor domain converts active chromatin into a state that unlocks the allosteric DNA methyltransferase. This creates a sequential, multi-gated process that preferentially restricts DNA methylation to the target site. Surprisingly, implementing this proofreading mechanism improved not only specificity, but also activity. ELXRs decreased off-target methylation up to 10-fold and rescued DNMT3A-dependent growth defects, with transcriptome profiling showing up to 150-fold fewer dysregulated genes, while also increasing on-target repression up to 4-fold across multiple loci. In mouse models, lipid nanoparticle delivery produced potent, durable PCSK9 silencing with precise promoter methylation. Together, these results demonstrate that coupling molecular recognition to effector activity through sequential proofreading can simultaneously improve specificity and potency.

molecular biology↗