A Method for In Situ Reverse Genetic Analysis of Proteins Involved mtDNA Replication

Abstract

The unavailability of tractable reverse genetic analysis approaches represents an obstacle to a better understanding of mitochondrial DNA replication. Here, we used CRISPR-Cas9 mediated gene editing to establish the conditional viability of knockouts in the key proteins involved in mtDNA replication. This observation prompted us to develop a set of tools for reverse genetic analysis in situ, which we called the GeneSwap approach. The technique was validated by identifying 730 amino acid (aa) substitutions in the mature human TFAM that are conditionally permissive for mtDNA replication. We established that HMG domains of TFAM are functionally independent, which opens opportunities for engineering chimeric TFAMs with customized properties for studies on mtDNA replication, mitochondrial transcription, and respiratory chain function. Finally, we present evidence that the HMG2 domain plays the leading role in TFAM species-specificity, thus indicating a potential pathway for TFAM-mtDNA evolutionary co-adaptations.

Document Details

Document Type
Pub Defense Publication
Publication Date
Jul 11, 2022
Source ID
10.3390/cells11142168

Entities

People

  • Domenico Spadafora
  • Mikhail F Alexeyev
  • Natalya Kozhukhar
  • Yelitza A. R. Rodriguez

Organizations

  • National Institutes of Health
  • United States Department of Defense

Tags

Fields of Study

  • Biology

Readers

  • Molecular Genetics
  • Molecular and Cellular Biology
  • Systems Analysis and Design

Technology Areas

  • Biotechnology