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Office of Undergraduate Research Home » 2021 Undergraduate Research Symposium Schedules

Found 1 project

Oral Presentation 3

1:00 PM to 2:30 PM
Is the Inverted Amplification Mechanism of the Yeast SUL1 Gene Dependent on Proximity to the Telomere?
Presenter
  • Isabelle Young, Senior, Biology (Molecular, Cellular & Developmental) Louis Stokes Alliance for Minority Participation, McNair Scholar, UW Honors Program
Mentors
  • M.K. Raghuraman, Genome Sciences
  • Bonita Brewer, Genome Sciences
Session
    Session O-3F: Genetic Foundations of Human Disease
  • 1:00 PM to 2:30 PM

  • Other Genome Sciences mentored projects (7)
  • Other students mentored by M.K. Raghuraman (1)
  • Other students mentored by Bonita Brewer (1)
Is the Inverted Amplification Mechanism of the Yeast SUL1 Gene Dependent on Proximity to the Telomere?close

Copy number variants (CNVs) are typically a result of chromosomal duplications and deletions, making them a well-known form of genetic diversity and associated with several human disorders. Little is known about CNVs within humans and insight into CNV mechanisms would help scientists better understand, and potentially treat, many genome-based diseases. A particular form of CNV within humans is the inverted triplication of a gene without any chromosomal deletions. A similar phenomenon is observed at the SUL1 gene in Saccharomyces cerevisiae yeast cells, providing a model for studying such CNVs. The Brewer lab proposed a replication error mechanism responsible for this specific amplification described as Origin Dependent Inverted Replication Amplification (ODIRA). What impacts the initiation of this mechanism is unknown, but the proximity of SUL1 to the telomere raises the possibility that properties of the telomere may stimulate replication errors responsible for the triplication. I conducted a literature review analyzing 11 articles discussing various CNV mechanisms and telomeric influence on replication to establish their relationship. Through my review, I found a likely method to test whether the telomere does affect ODIRA. I propose utilizing a CRISPR-Cas9 based method to first circularize and eliminate the telomeres of the chromosome. Subsequently, the chromosome would be linearized at a location distant from the original telomere sites, effectively moving the entire SUL1 site away from potential telomeric influence. This research design allows for a comparison of SUL1 amplification events within the original and the restructured chromosomes and would reveal whether the telomeric region influences inverted SUL1 amplification formation. An observed reduction in rates of SUL1 amplification events with the reconstructed chromosomes would indicate telomeric influence on the amplification mechanism prompting further examinations within that genomic region. Attaining a greater understanding of this CNV mechanism yields information for future implications in genetic disease research.


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