Explanipedia

Recapitulating the length polymorphism of RS3, a composite microsatellite implicated in human social behavior, via recombination in Saccharomyces cerevisiae Open

Catie E. Kean, Elina A. Radchenko, Noah M. Lindenbaum, Grace Materne, Sergei M. Mirkin · 2025

Arginine Vasopressin (AVP) through its receptor V1a, pivotally modulates social and sexual behaviors in mammals. Differences in gene expression and the resulting behavioral changes have been linked to variation in the 5’ flanking region of…

Emerging drivers of DNA repeat expansions Open

Liangzi Li, W. Shem Scott, Sergei M. Mirkin · 2025

Expansions of short tandem repeats (STRs) are the cause of a class of human hereditary disorders called repeat expansion diseases (REDs). Most REDs are neurodegenerative or neurodevelopmental diseases such as Huntington’s disease, myotonic…

The origin of mirror repeats in the human genome Open

Ryan J. McGinty, Alisa O. Lyskova, Sergei M. Mirkin · 2025

Mirror DNA repeats were found in genomic DNA several decades ago, but their role and the mechanisms leading to their abundance have remained a mystery. The only firmly established functional property was that the subset of long homopurine–…

RNAs anchoring replication complex control initiation and firing of DNA replication Open

Annalisa Di Ruscio, Simone Ummarino, Larysa Poluben, Alexander K. Ebralidze, Ida Autiero , et al. · 2025

Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths Open

Ryan J. McGinty, Daniel J. Balick, Sergei M. Mirkin, Shamil Sunyaev · 2025

Using the Telomere-to-Telomere reference, we assembled the distribution of simple repeat lengths present in the human genome. Analyzing over two hundred mammalian genomes, we found remarkable consistency in the shape of the distribution ac…

Triplex H-DNA Structure: The Long and Winding Road from the Discovery to Its Role in Human Disease Open

Julia A. Hisey, Chiara Masnovo, Sergei M. Mirkin · 2024

H-DNA is an intramolecular DNA triplex formed by homopurine-homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure in vitro to discovering its existence and role in vivo. H-DNA interact…

Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability Open

Chiara Masnovo, Zohar Paleiov, Daniel Dovrat, Lynne Baxter, Sofia Movafaghi , et al. · 2024

Recurrent DNA nicks drive massive expansions of (GAA) n repeats Open

Liangzi Li, W. Shem Scott, Alexandra N. Khristich, Jillian F. Armenia, Sergei M. Mirkin · 2024

Over 50 hereditary degenerative disorders are caused by expansions of short tandem DNA repeats (STRs). (GAA) n repeat expansions are responsible for Friedreich’s ataxia as well as late-onset cerebellar ataxias (LOCAs). Thus, the mechanisms…

DNA Nicks Drive Massive Expansions of (GAA)nRepeats Open

Liangzi Li, W. Shem Scott, Alexandra N. Khristich, Jillian F. Armenia, Sergei M. Mirkin · 2024

Over 50 hereditary degenerative disorders are caused by expansions of short tandem DNA repeats (STRs). (GAA) n repeat expansions are responsible for Friedreich’s ataxia as well as late-onset cerebellar ataxias (LOCAs). Thus, the mechanisms…

Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures Open

Julia A. Hisey, Elina A. Radchenko, Nicholas H Mandel, Ryan J. McGinty, Gabriel Matos‐Rodrigues , et al. · 2024

CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (A2G3)n repeat in the RFC1 gene. There are a multitude of repeat motifs found in the human population at this locus, …

Massive contractions of myotonic dystrophy type 2-associated CCTG tetranucleotide repeats occur via double-strand break repair with distinct requirements for DNA helicases Open

David Papp, Luis C. Hernandez, Theresa Asen, Terrance J. Haanen, Meghan A O’Donnell , et al. · 2023

Myotonic dystrophy type 2 (DM2) is a genetic disease caused by expanded CCTG DNA repeats in the first intron of CNBP. The number of CCTG repeats in DM2 patients ranges from 75 to 11,000, yet little is known about the molecular mechanisms r…

Pathogenic CANVAS (AAGGG)nrepeats stall DNA replication due to the formation of alternative DNA structures Open

Julia A. Hisey, Elina A. Radchenko, Silvia Ceschi, Anastasia Rastokina, Nicholas H Mandel , et al. · 2023

CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (A 2 G 3 ) n repeat in the RFC1 gene. There are a multitude of repeat motifs found in the human population at this lo…

Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for helicases Open

David Papp, Luis Hernández, Theresa Asen, Terrance J. Haanen, Meghan A. O’Donnell , et al. · 2023

Myotonic Dystrophy Type 2 (DM2) is a genetic disease caused by expanded CCTG DNA repeats in the first intron of CNBP . The number of CCTG repeats in DM2 patients ranges from 75-11,000, yet little is known about the molecular mechanisms res…

Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers Open

Anastasia Rastokina, Jorge Cebrián, Negin Mozafari, Nicholas H Mandel, Smith Rjh , et al. · 2023

Friedreich's ataxia (FRDA) is caused by expansions of GAA•TTC repeats in the first intron of the human FXN gene that occur during both intergenerational transmissions and in somatic cells. Here we describe an experimental system to analyze…

Shuffling the yeast genome using CRISPR/Cas9-generated DSBs that target the transposable Ty1 elements Open

Lei S. Qi, Yang Sui, Xing-Xing Tang, Ryan J. McGinty, Xiao-Zhuan Liang , et al. · 2023

Although homologous recombination between transposable elements can drive genomic evolution in yeast by facilitating chromosomal rearrangements, the details of the underlying mechanisms are not fully clarified. In the genome of the yeast S…

S1-END-seq reveals DNA secondary structures in human cells Open

Gabriel Matos‐Rodrigues, Niek van Wietmarschen, Wei Wu, Veenu Tripathi, Natasha C. Koussa , et al. · 2022

Replication dependent and independent mechanisms of GAA repeat instability Open

Chiara Masnovo, Ayesha F. Lobo, Sergei M. Mirkin · 2022

Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomers Open

Anastasia Rastokina, Negin Mozafari, Jorge Cebrián, Smith Rjh, Sergei M. Mirkin , et al. · 2022

The human disease Friedreich’s ataxia (FRDA) is caused by expansions of GAA•TTC repeats in the first intron intron of the frataxin ( FXN) gene, and both intergenerational and somatic expansions are crucial for disease development. We and o…

Large-scale expansions and replication stalling of Friedreich’s ataxia GAA repeats in an experimental mammalian system Open

Anastasia Rastokina, Jorge Cebrián, Nicholas H Mandel, Rula Zain, Massimo Lopes , et al. · 2022

1 Abstract Human disease Friedreich’s ataxia (FRDA) is caused by large-scale expansions of (GAA)n repeats in the first intron of the FXN gene. While repeat expansions during intergenerational transmissions are causative for the disease dev…

Fleeing Russian researchers seek Western support Open

Sergei M. Mirkin, Alexander Vilenkin, Polina Deletic · 2022

Partners in crime: Tbf1 and Vid22 promote expansions of long human telomeric repeats at an interstitial chromosome position in yeast Open

Elina A. Radchenko, Anna Y. Aksenova, Kirill V. Volkov, A.A. Shishkin, Youri I. Pavlov , et al. · 2022

In humans, telomeric repeats (TTAGGG)n 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 molec…

Linking Dynamic DNA Secondary Structures to Genome Instability Open

Gabriel Matos‐Rodrigues, Niek van Wietmarschen, Wei Wu, Veenu Tripathi, Natasha C. Koussa , et al. · 2022

Summary Genomic double-stranded DNA (dsDNA) becomes single-stranded (ssDNA) during replication, transcription, and DNA repair. ssDNA is therefore believed to be transient, occurring in only a fraction of the genome at a given time, and var…

Characteristics and possible mechanisms of formation of microinversions distinguishing human and chimpanzee genomes Open

Nadezhda A. Potapova, Alexey S. Kondrashov, Sergei M. Mirkin · 2022

Genomic inversions come in various sizes. While long inversions are relatively easy to identify by aligning high-quality genome sequences, unambiguous identification of microinversions is more problematic. Here, using a set of extra string…

S-Phase induced RNAs control ORC1 engagement to H2A.Z and firing of early DNA replication origins Open

Simone Ummarino, Larysa Poluben, Alex K. Ebralidze, Ida Autiero, Yhanzou Zhang , et al. · 2021

Summary Coordinated initiation of DNA replication is essential to ensure efficient and timely DNA synthesis. Yet, the mechanism governing the “initiation” process in eukaryotic cells remains elusive. Here, we present data demonstrating a n…

Rad9-mediated checkpoint activation is responsible for elevated expansions of GAA repeats in CST-deficient yeast Open

Ekaterina Spivakovsky-Gonzalez, Erica J. Polleys, Chiara Masnovo, Jorge Cebrián, Adrian M. Molina Vargas , et al. · 2021

Large-scale expansion of (GAA)n repeats in the first intron of the FXN gene is responsible for the severe neurodegenerative disease, Friedreich’s ataxia in humans. We have previously conducted an unbiased genetic screen for GAA repeat inst…

Decision letter: Unleashing a novel function of Endonuclease G in mitochondrial genome instability Open

Wolf‐Dietrich Heyer, Sergei M. Mirkin · 2021

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging Open

Alexander J. Neil, Julia A. Hisey, Ishtiaque Quasem, Ryan J. McGinty, Marcin Hitczenko , et al. · 2021

Significance The inheritance of long (GAA) n repeats in the frataxin gene causes the debilitating neurodegenerative disease Friedreich’s ataxia. Subsequent expansions of these repeats throughout a patient’s lifetime in the affected tissues…

Author Index Open

Anna Aakula, Mehmet Alphan, B Bafna, Jayesh Arun, Carlo Ballatore , et al. · 2020

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability Open

Alexandra N. Khristich, Sergei M. Mirkin · 2020

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the majority of which are severe, degenerative, and not currently treatable or preventable. In this review, we first describe the molecular mechanisms of rep…

Large-scale contractions of Friedreich’s ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability Open

Alexandra N. Khristich, Jillian F. Armenia, Robert Matera, Anna Kolchinski, Sergei M. Mirkin · 2020

Significance Expansions of GAA repeats cause a severe hereditary neurodegenerative disease, Friedreich’s ataxia. In this study, we characterized the mechanisms of GAA repeat contractions in a yeast experimental system. These mechanisms mig…

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