Publications by authors named "Elina A Radchenko"
Article Synopsis
- CANVAS is a genetic disorder linked to expansions of a specific DNA repeat in the RFC1 gene, with pathogenic (A2G3)n and nonpathogenic (A4G)n repeats present in the human population.
- Research showed that the pathogenic (A2G3)n repeat blocks DNA replication in vitro, while the benign (A4G)n repeat does not, suggesting that the former can form unusual DNA structures like triplexes or quadruplexes in the presence of certain ions.
- In experimental models, the harmful (A2G3)n repeat was found to disrupt normal DNA replication in both yeast and human cells, indicating it poses challenges to genome stability.
CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (AG) repeat in the gene. There are a multitude of repeat motifs found in the human population at this locus, some of which are pathogenic and others benign. In this study, we conducted structure-functional analyses of the main pathogenic (AG) and the main nonpathogenic (AG) repeats.
View Article and Find Full Text PDFIn humans, telomeric repeats (TTAGGG) are known to be present at internal chromosomal sites. These interstitial telomeric sequences (ITSs) are an important source of genomic instability, including repeat length polymorphism, but the molecular mechanisms responsible for this instability remain to be understood. Here, we studied the mechanisms responsible for expansions of human telomeric (Htel) repeats that were artificially inserted inside a yeast chromosome.
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- Understanding genome plasticity benefits from assays that analyze recombination, repair, and mutagenesis, especially in microbial systems with easily manipulated genetic reporters.
- These cellular assays include various types of reporters—genetic, molecular, and cytological—that help researchers study DNA processes.
- The text reviews commonly used assays, highlighting their strengths and weaknesses, and offers guidelines for future research.
Article Synopsis
- Repetitive DNA sequences, especially trinucleotide repeats, can lead to various hereditary disorders in humans due to their instability.
- This study presents a new method to analyze the instability of these triplet repeats using yeast as a model organism.
- The researchers utilize a fluctuation assay combined with a software called FluCalc to measure the rates of repeat expansions and associated genetic mutations.
The Peterhof genetic collection of Saccharomyces cerevisiae strains (PGC) is a large laboratory stock that has accumulated several thousands of strains for over than half a century. It originated independently of other common laboratory stocks from a distillery lineage (race XII). Several PGC strains have been extensively used in certain fields of yeast research but their genomes have not been thoroughly explored yet.
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