Published February 12, 2025 | Version v1

Programmable gene insertion in human cells with a laboratory-evolved CRISPR-associated transposase

Description

Abstract

Programmable gene integration in human cells has the potential to enable mutation-agnostic treatments for loss-of-function genetic diseases and facilitate many applications in the life sciences. CRISPR-associated transposases (CASTs) catalyze RNA-guided DNA integration but thus far demonstrate minimal activity in human cells. Using phage-assisted continuous evolution (PACE), we identified CAST variants with ≥200-fold average improved integration activity. The evolved CAST system (evoCAST) achieves ~10-30% integration efficiencies of kilobase-size DNA cargoes in human cells across 14 tested genomic target sites, including safe harbor loci, sites used for immunotherapy, and genes implicated in loss-of-function diseases, with undetected indels and low levels of off-target integration. Collectively, our findings establish a platform for the laboratory evolution of CASTs and advance a versatile system for programmable gene integration in living systems.

Table of contents

Description of files uploaded

Off-target_ATAC_code.zip: Compressed folder of python/bash scripts used to calculate ATAC scores of off-target evoCAST integration events, and perform bootstrap analysis (fig. S25D)

HTS-IntegrationEfficiencyScript.zip: Compressed folder of script used to analyze integration efficiencies for CAST using HTS data, adapted from Lampe, et al. NBT 2023. Script also calculates distribution of T-RL insertion sites.

240111_1921_xSL0283.ncf: Raw flow-cytommetry data of TnsB-VP64 reporter assay (fig. S18, A and B). Example gating shown in Lampe, et al. NBT 2023.

240111_1921_xSL0283_Heat Map1.csv: CSV file of tdTomato MFI for TnsB-VP64 reporter assay (fig. S18, A and B). Example gating shown in Lampe, et al. NBT 2023.

220713_QCascade-structure-AF2.cxs: Chimera session of AlphaFold2-predicted PseQCascade (fig. S21A, C, and D).

PseTnsAB-STC.pse: PyMOL session of AlphaFold3-predicted PseTnsAB strand-transfer complex (Fig. 3E, figs. S16 and S18C).

PseTnsC7-DNA.pse: PyMOL session of AlphaFold3-predicted PseTnsC heptamer and target DNA (fig. S8).

PseTnsC7-TnsBhook.pse: PyMOL session of AlphaFold3-predicted PseTnsC heptamer in complex witih a PseTnsB C-terminal hook (Fig. 3F).

All ".ddpcrone" and "WellAnnotations.xlsx" files: Raw ddPCR files (.ddpcrone) for Fig. 5A and 5I, representative of ddPCR data throughout study. Well identities and efficiency calculations are in the ".xlsx" file. Figures S5 and S6 discuss ddPCR quantitation in depth.

ExampleGating-figS25H.ai and figS25H-flowquantitation.xlsx: Example flow cytometry gating (.ai) and % mCherry+ values (.xlsx) for off-target integration reporter assay (fig. S25H).

FigS18D_Western.jpg: Uncropped western blot image for fig. S18D.

UDiTaS analysis scripts are in the linked GitHub repository (https://github.com/sternberglab/Witte_Lampe_Eitzinger_et_al_2024)

 

 

Files

240111_1921_xSL0283_Heat Map1.csv

Files (291.2 MB)

Name Size Download all
md5:676930a5b97eb07c268e2bee19cc8e71
1.9 MB Download
md5:c728bbdef258eebe9117c655885464d1
90.0 MB Download
md5:d0ff049605cc636e6a8d263313c95b81
1.3 kB Preview Download
md5:f245c3e325f2f0a27afdb4c2078d9564
20.1 kB Download
md5:69a95137e9f986618afddd9f019d0eb3
13.2 kB Download
md5:202808343f00fe7ba9e1465e5fd271b3
561.4 kB Download
md5:0630c538eda456081b760cfe05ca7b77
32.2 MB Download
md5:ffe407ce528f3f2bc26a44088546e7d7
31.6 MB Download
md5:6d362fb98c3611a7ac81a012cd53a7a4
31.7 MB Download
md5:fa58d814e42dbfe16166c05288e574cf
26.5 MB Download
md5:2b1f9bbdc7a88f168793444806ff117c
26.7 MB Download
md5:c8136063159f6b40f3bacd23ba4b661f
59.2 kB Preview Download
md5:2652bfdbbe5056cf3b469019d36d92a7
2.9 MB Preview Download
md5:9ee5c23cd8c2b05815f3784f7c034f60
11.2 kB Download
md5:60aee056bc0525fec4d2f657366308e5
48.9 kB Preview Download
md5:a35143f58fb2036f400a5b86d389d097
8.2 kB Preview Download
md5:e442affe42c28c8f08ee984562c3caec
20.5 MB Download
md5:6a4980b0dbede19d97ae86cd141253cb
13.7 MB Download
md5:fd3997b7a24359adecf777659b6aa794
12.9 MB Download

Additional details

Software

Repository URL
https://github.com/sternberglab/Witte_Lampe_Eitzinger_et_al_2024
Programming language
Python
Development Status
Active