About

Sue Jinks-Robertson is the James B. Duke Distinguished Professor Emerita of Molecular Genetics and Microbiology at Duke University. Her research focuses on the regulation of genetic stability, primarily using budding yeast (Saccharomyces cerevisiae) as a model genetic system. Her primary research goals include defining molecular structures and mechanisms of mitotic recombination intermediates and understanding how and why transcription destabilizes the underlying DNA template. Additionally, she has initiated studies of mutagenesis in the pathogenic fungus Cryptococcus neoformans, where she has found that a shift to human body temperature mobilizes transposable elements, suggesting this promotes rapid adaptation to the harsh host environment.

Research topics

• Biology
• Genetics
• Microbiology
• Computational biology

Selected publications

• DNA mutagenesis driven by transcription factor competition with mismatch repair

  Cell · 2025-07-29 · 4 citations

  articleOpen access
  PublisherOA PDFDOI

• Deletions initiated by the vaccinia virus TopIB protein in yeast

  DNA repair · 2024-03-06 · 1 citations

  articleOpen accessSenior authorCorresponding
  PublisherOA PDFDOI

• Abstract 1384: Transposon mobility in serial isolates of Cryptococcus neoformans from patients with recurrent cryptococcal meningitis

  Journal of Biological Chemistry · 2023-01-01

  articleOpen accessSenior author
  PublisherDOI

• Genetic control of the error-prone repair of a chromosomal double-strand break with 5′ overhangs in yeast

  Genetics · 2023-07-07 · 4 citations

  articleOpen accessSenior author

  A targeted double-strand break introduced into the genome of Saccharomyces cerevisiae is repaired by the relatively error-prone nonhomologous end joining (NHEJ) pathway when homologous recombination is not an option. A zinc finger nuclease cleavage site was inserted out-of-frame into the LYS2 locus of a haploid yeast strain to study the genetic control of NHEJ when the ends contain 5' overhangs. Repair events that destroyed the cleavage site were identified either as Lys+ colonies on selective medium or as surviving colonies on rich medium. Junction sequences in Lys+ events solely reflected NHEJ and were influenced by the nuclease activity of Mre11 as well as by the presence/absence of the NHEJ-specific polymerase Pol4 and the translesion-synthesis DNA polymerases Pol ζ and Pol η. Although most NHEJ events were dependent on Pol4, a 29-bp deletion with endpoints in 3-bp repeats was an exception. The Pol4-independent deletion required translesion synthesis polymerases as well as the exonuclease activity of the replicative Pol δ DNA polymerase. Survivors were equally split between NHEJ events and 1.2 or 11.7 kb deletions that reflected microhomology-mediated end joining (MMEJ). MMEJ events required the processive resection activity of Exo1/Sgs1, but there unexpectedly was no dependence on the Rad1-Rad10 endonuclease for the removal of presumptive 3' tails. Finally, NHEJ was more efficient in nongrowing than in growing cells and was most efficient in G0 cells. These studies provide novel insights into the flexibility and complexity of error-prone DSB repair in yeast.

  PublisherOA PDFDOI

• Genetic control of the error-prone repair of a chromosomal double-strand break with 5’ overhangs in yeast

  bioRxiv (Cold Spring Harbor Laboratory) · 2023-05-04 · 2 citations

  preprintOpen accessSenior authorCorresponding

  ABSTRACT A targeted double-strand break introduced into the genome of Saccharomyces cerevisiae is repaired by the relatively error-prone nonhomologous-end joining (NHEJ) pathway when homologous recombination is not an option. A ZFN cleavage site was inserted out-of-frame into the LYS2 locus of a haploid yeast strain to study the genetic control of NHEJ when the ends contain 5′ overhangs. Repair events that destroyed the cleavage site were identified either as Lys + colonies on selective medium or as surviving colonies on rich medium. Junction sequences in Lys + events solely reflected NHEJ and were influenced by the nuclease activity of Mre11 as well as by the presence/absence of the NHEJ-specific polymerase Pol4 and the translesion-synthesis DNA polymerases Pol σ and Pol 11. Although most NHEJ events were dependent on Pol4, a 29-bp deletion with endpoints in 3-bp repeats was an exception. The Pol4-independent deletion required TLS polymerases as well as the exonuclease activity of the replicative Pol DNA polymerase. Survivors were equally split between NHEJ events and 1 kb or 11 kb deletions that reflected microhomology-mediated end joining (MMEJ). MMEJ events required the processive resection activity of Exo1/Sgs1, but there unexpectedly was no dependence on the Rad1-Rad10 endonuclease for the removal of presumptive 3′ tails. Finally, NHEJ was more efficient in non-growing than in growing cells and was most efficient in G0 cells. These studies provide novel insight into the flexibility and complexity of error-prone DSB repair in yeast.

  PublisherOA PDFDOI

• Genome-wide analysis of heat stress-stimulated transposon mobility in the human fungal pathogen <i>Cryptococcus deneoformans</i>

  Proceedings of the National Academy of Sciences · 2023 · 55 citations

  Senior authorCorresponding
  • Biology
  • Genetics
  • Microbiology

  isolates recovered from infected mice, providing evidence that mobile elements are likely to facilitate microevolution and rapid adaptation during infection.

  PublisherOA PDFDOI

• Spontaneous deamination of cytosine to uracil is biased to the non-transcribed DNA strand in yeast

  DNA repair · 2023-03-29 · 6 citations

  articleOpen accessSenior authorCorresponding
  PublisherOA PDFDOI

• Genome-wide analysis of heat stress-stimulated transposon mobility in the human fungal pathogen <i>Cryptococcus deneoformans</i>

  bioRxiv (Cold Spring Harbor Laboratory) · 2022-06-10 · 1 citations

  preprintOpen accessSenior authorCorresponding

  Abstract We recently reported transposon mutagenesis as a significant driver of spontaneous mutations in the human fungal pathogen Cryptococcus deneoformans during murine infection. Mutations caused by transposable element (TE) insertion into reporter genes were dramatically elevated at high temperature (37° versus 30°) in vitro, suggesting that heat stress stimulates TE mobility in the Cryptococcus genome. To explore the genome-wide impact of TE mobilization, we generated transposon accumulation lines by in vitro passage of C. deneoformans strain XL280α for multiple generations at both 30° and at the host-relevant temperature of 37°. Utilizing whole-genome sequencing, we identified native TE copies and mapped multiple de novo TE insertions in these lines. Movements of the T1 DNA transposon occurred at both temperatures with a strong bias for insertion between gene-coding regions. By contrast, the Tcn12 retrotransposon integrated primarily within genes and movement occurred exclusively at 37°. In addition, we observed a dramatic amplification in copy number of the Cnl1 ( C. neoformans LINE-1) retrotransposon in sub-telomeric regions under heat-stress conditions. Comparing TE mutations to other sequence variations detected in passaged lines, the increase in genomic changes at elevated temperature was primarily due to mobilization of the retroelements Tcn12 and Cnl1. Finally, we found multiple TE movements (T1, Tcn12 and Cnl1) in the genomes of single C. deneoformans isolates recovered from infected mice, providing evidence that mobile elements are likely to facilitate microevolution and rapid adaptation during infection. Significance Statement Rising global temperatures and climate change are predicted to increase fungal diseases in plants and mammals. However, the impact of heat stress on genetic changes in environmental fungi is largely unexplored. Environmental stressors can stimulate the movement of mobile DNA elements (transposons) within the genome to alter the genetic landscape. This report provides a genome-wide assessment of heat stress-induced transposon mobilization in the human fungal pathogen Cryptococcus. Transposon copies accumulated in genomes more rapidly following growth at the higher, host-relevant temperature. Additionally, movements of multiple elements were detected in the genomes of cryptococci recovered from infected mice. These findings suggest that heat stress-stimulated transposon mobility contributes to rapid adaptive changes in fungi both in the environment and during infection.

  PublisherOA PDFDOI

• Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers

  Proceedings of the National Academy of Sciences · 2022-01-20 · 51 citations

  articleOpen accessCorresponding

  Significance Topoisomerases are crucial for genome maintenance and are targets for several chemotherapeutic agents. While anticancer drugs targeting topoisomerases can lead to secondary malignancies, there have been no descriptions of genetic defects in topoisomerases having roles in cancer development. Here we show that a somatic topoisomerase IIα mutation found in human tumors results in a mutator phenotype. We show that this mutation and the concomitant mutational signature, which we call ID_TOP2α, are associated with genomic rearrangements and with potentially oncogenic indel mutations in known driver genes. Our results shed new light on topoisomerase IIα function, on repair of trapped cleavage complexes, and on a likely oncogenic role for topoisomerases.

  PublisherDOI

• Mitotic recombination in yeast: what we know and what we don’t know

  Current Opinion in Genetics & Development · 2021 · 27 citations

  1st authorCorresponding
  • Biology
  • Genetics
  • Computational biology

  Saccharomyces cerevisiae is at the forefront of defining the major recombination mechanisms/models that repair targeted double-strand breaks during mitosis. Each of these models predicts specific molecular intermediates as well as genetic outcomes. Recent use of single-nucleotide polymorphisms to track the exchange of sequences in recombination products has provided an unprecedented level of detail about the corresponding intermediates and the extents to which different mechanisms are utilized. This approach also has revealed complexities that are not predicted by canonical models, suggesting that modifications to these models are needed. Current data are consistent with the initiation of most inter-homolog spontaneous mitotic recombination events by a double-strand break. In addition, the sister chromatid is preferred over the homolog as a repair template.

  PublisherDOI

Recent grants

• NIH Grant R01GM038464

  NIH · $5.3M · 2016

• NIH Grant R29GM038464

  NIH · $479k · 1992

• NIH Grant R01GM101690

  NIH · $1.3M · 2016

• NIH Grant R01GM093197

  NIH · $1.2M · 2015

• NIH Grant F32GM009628

  NIH · $43k

Frequent coauthors

• Nayun Kim

  76 shared

• Jang-Eun Cho

  31 shared

• Serge Boiteux

  Centre de Biophysique Moléculaire

  31 shared

• Samantha Shaltz

  Duke University Hospital

  29 shared

• Thomas D. Petes

  Duke University

  28 shared

• Rebecca L. Swanson

  Emory University

  27 shared

• Paul W. Doetsch

  27 shared

• Brenda K. Minesinger

  26 shared

Awards & honors

• James B. Duke Distinguished Professor Emerita