DNA Repair Mechanisms Analysis

R scRNA-seq Genomics Statistical Analysis DNA Repair

Project Overview

This research project focuses on deciphering the molecular mechanisms that determine DNA repair pathway choice between Non-Homologous End Joining (NHEJ) and Homology-Directed Repair (HDR) in response to different types of DNA breaks. Understanding these mechanisms is crucial for improving genome editing technologies and developing targeted cancer therapies.

As the lead computational analyst, I developed an innovative three-layer computational pipeline to analyze single-cell RNA sequencing data from CRISPR-edited cells. This approach allows us to understand how different DNA break configurations (staggered versus blunt-end) influence the cellular repair machinery at unprecedented resolution.

Multi-Layer Analysis

Three-layer inference method combining QC, statistical analysis, and pathway enrichment

Break Type Comparison

Systematic comparison of repair responses to staggered vs blunt-end DNA breaks

Single-Cell Resolution

High-resolution analysis of cellular heterogeneity in DNA repair responses

Network Analysis

Comprehensive protein-protein interaction networks revealing repair factor dependencies

Computational Pipeline

The analysis pipeline was designed to extract meaningful biological insights from complex single-cell data while maintaining statistical rigor and reproducibility.

1

Quality Control & Data Integration

Implemented stringent quality control workflow with optimized parameters (nFeature: 500-6500, nCount: 1000-45000) to ensure high-quality single-cell data. Integrated multiple experimental batches using advanced computational methods to minimize batch effects while preserving biological variation.

2

Layer 1: Initial Statistical Analysis

Performed differential expression analysis to identify genes responding to different DNA break types. This layer revealed initial candidates showing break-type-specific expression patterns, providing the foundation for deeper pathway analysis.

3

Layer 2: Pathway Enrichment

Conducted comprehensive pathway enrichment analysis using multiple databases (GO, KEGG, Reactome) to identify biological processes and molecular functions associated with different repair responses. This revealed key pathways differentially activated between break types.

4

Layer 3: Network Integration

Integrated protein-protein interaction networks with expression data to identify hub genes and regulatory modules. This final layer provided mechanistic insights into how repair factors coordinate their activities in response to different DNA lesions.

Key Discoveries

Break-Specific Repair Factors

Identified 77 genes specifically upregulated in response to staggered breaks (FZ+) and 5 genes specific to blunt-end breaks (SZ+), revealing distinct molecular signatures for different DNA lesion types.

Overlapping Repair Networks

Discovered 23 genes showing FZ+/SZ- patterns and 2 genes with SZ+/FZ- patterns, indicating complex regulatory networks that fine-tune repair pathway choice based on break configuration.

Temporal Dynamics

Revealed time-dependent activation of repair pathways, with early response genes showing break-type-independent activation followed by specialized repair factor recruitment based on lesion characteristics.

Cell Cycle Dependencies

Demonstrated how cell cycle status influences repair pathway choice, with HDR preference in S/G2 phases and NHEJ dominance in G1, modulated by break type and local chromatin context.

Technical Implementation

Data Processing

  • Platform: 10X Genomics Chromium
  • Samples: Multiple time points post-DNA damage
  • Cells Analyzed: >50,000 high-quality cells
  • Genes Detected: ~20,000 per experiment

Computational Tools

  • Seurat v4: Single-cell data analysis
  • edgeR/DESeq2: Differential expression
  • clusterProfiler: Pathway enrichment
  • igraph: Network analysis
  • Custom R scripts: Specialized analyses

Statistical Methods

  • Normalization: SCTransform with regression
  • Batch Correction: Harmony integration
  • Multiple Testing: FDR < 0.05
  • Network Analysis: Weighted correlation networks

Research Impact & Applications

This research has significant implications for multiple fields, from basic molecular biology to clinical applications in cancer therapy and genome editing.

Genome Editing Optimization

Our findings provide crucial insights for designing more efficient CRISPR strategies by understanding how different Cas enzymes and guide RNA designs influence repair outcomes. This knowledge can be applied to improve knock-in efficiency and reduce unwanted mutations.

Cancer Therapy Development

Understanding repair pathway dependencies offers new therapeutic targets for cancer treatment. By identifying factors specific to each repair pathway, we can develop strategies to sensitize cancer cells to DNA-damaging therapies.

Biomarker Discovery

The repair factor signatures identified in this study serve as potential biomarkers for predicting cellular responses to DNA damage, which could guide personalized treatment strategies in precision medicine.

Fundamental Biology

This work advances our understanding of how cells maintain genome integrity by revealing the complex decision-making processes that govern DNA repair pathway choice at the single-cell level.

Collaborative Research

This project represents a collaborative effort between computational and experimental biologists, combining cutting-edge single-cell technologies with advanced computational analyses.

Principal Investigator: Dr. Debojyoti Chakraborty, IGIB CSIR

Experimental Team: CRISPR genome editing and single-cell library preparation

Computational Analysis: Led by Vishal Bharti

Duration: 2023 - Present

Status: Manuscript in preparation

Future Research Directions

Machine Learning Integration

  • Develop predictive models for repair pathway choice
  • Create algorithms to design optimal CRISPR strategies
  • Build tools for automated analysis of repair outcomes

Expanded Cell Type Analysis

  • Extend analysis to primary cells and tissues
  • Compare repair mechanisms across cell types
  • Investigate tissue-specific repair preferences

Clinical Translation

  • Validate findings in patient-derived samples
  • Develop diagnostic tools based on repair signatures
  • Design targeted therapies exploiting repair dependencies

Related Publications

Deciphering DNA Repair Factor Requirements in Staggered versus Blunt-End DNA Breaks through Multi-Layer Inference Analysis

Bharti, V., et al.

Manuscript in preparation (2025)

Abstract: DNA double-strand breaks (DSBs) can occur with different end configurations, yet how these structural differences influence repair pathway choice remains poorly understood. Here, we present a comprehensive single-cell RNA sequencing analysis of cellular responses to staggered versus blunt-end DNA breaks induced by different CRISPR-Cas systems. Through our three-layer computational pipeline, we identified distinct molecular signatures associated with each break type, revealing previously uncharacterized repair factor dependencies. Our findings demonstrate that break geometry significantly influences the recruitment and activity of repair factors, with implications for genome editing applications and cancer therapy development.

Interested in DNA Repair Research?

If you're interested in collaborating on DNA repair mechanisms, single-cell genomics, or computational biology research, I'd be happy to discuss potential opportunities.