07:55 AM

Professor and Alumni Publish Manuscript on Genetic Disease

By Bri Phillips

Ten Cal State San Marcos alumni recently published a research project with biological sciences professor Jane Kim. 

The manuscript “Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for DNA helicases” was published by Oxford University Press in the scientific journal G3: Genes, Genomes, Genetics in early November. 

The research analyzed the disease myotonic dystrophy type 2, which is a genetic condition that causes progressive muscle weakness. To conduct the study, Kim and her students used yeast to investigate the CCTG DNA repeats that are responsible for the disease. Yeast is commonly used by biologists and geneticists because the cells replicate their DNA similarly to human cells. 

“Even though DNA repeats associated with human disease have been studied for 20-plus years, this was the first study that investigated CCTG DNA repeats in a system that mimics the human situation where the repeats are on a chromosome,” Kim said. 

I think what's exciting is that this was the first comprehensive genetic analysis of these CCTG repeats. And we were able to pinpoint genes that are involved in contractions. Then we were also able to show that these repeats, when they're long, are actually more susceptible to breaking.” 

Kim started the research in 2017 while doing postdoctoral work at Tufts University in Boston and brought it to CSUSM when she became a professor.

“The pandemic definitely slowed things down a lot,” Kim said. “In 2020, we were at peak productivity. It felt like we were just a few months away from publishing at that point. Then the labs were basically shut down completely from March to about November.”

The amount of time that Kim and the students could be in the lab was limited, but the research started picking up once pandemic restrictions were lifted. The project took a total of five years to finish. 

“It feels like such an accomplishment,” Kim said. “I'm just so proud of the work scientifically and also the student contributions to the work. When I see the author list, I'm just very proud that each name represents an individual academic journey.”

Kim’s former students involved in the project are David Papp, Luis Hernandez, Theresa Mai, Terrance Haanen, Meghan O’Donnell, Ariel Duran, Sophia Hernandez, Jenni Narvanto, Berenice Arguello and Marvin O. Onwukwe. 

Media Contact

Bri Phillips, Communications Specialist