Borchert lab research challenges longstanding view of gene regulation

Glen Borchert, Ph.D., a professor of pharmacology, is leading the pioneering research.

By Michelle Ryan-Day

A groundbreaking study from researchers at the Frederick P. Whiddon College of Medicine at the University of South Alabama could redefine how scientists understand the role of DNA in regulating genes. Published in the prestigious peer-reviewed journal Nucleic Acids Research, the study introduces a revolutionary concept—that DNA itself plays a direct and active role in the regulation of gene expression, challenging traditional views that proteins are the sole mediators of this process.  

Led by Glen Borchert, Ph.D., a professor of pharmacology in the Whiddon College of Medicine and a professor of biology in the College of Arts and Sciences, this pioneering research focuses on a specific DNA structure known as Long G4 stretches (LG4s). The Borchert lab first described LG4s in the human genome in 2020, identifying approximately 300 such regions. These stretches, which do not follow the typical double-helix structure, instead form complex, knot-like structures called G4-kissing structures.  

That research was published in the lab’s first Nucleic Acids Research paper in 2020.   

“We've been investigating cellular functions of these ever since we first described them,” he said.  

In the new study, Borchert and his team show that these unique DNA structures can directly interact with genomic promoters—the parts of the genome responsible for regulating gene activity.   

For the first time, researchers demonstrated that genes and their enhancers can connect through direct DNA binding, without the involvement of proteins. This discovery directly challenges the long-standing theory that proteins are necessary for genomic looping, a process by which genes and their enhancers come into close proximity to regulate gene expression.  

“Our paper is the first to show genomic enhancers associate with the genes they regulate by the DNAs directly binding (not bound proteins),” he said, “and more fundamentally, our paper directly challenges the notion that DNA is strictly informational. Our work shows DNA is an active participant in gene expression.”  

This discovery opens the door to new possibilities for understanding gene regulation, which could have far-reaching implications for human health, including insights into genetic diseases and potential therapeutic approaches.   

The findings suggest that DNA-based regulatory mechanisms, like those described in the study, play an important role in the regulation of human gene expression—a role that has not been fully appreciated until now.  

Borchert's lab, which has received funding from the National Science Foundation, is continuing to explore the role of LG4s in gene regulation. The team has requested additional funding to further investigate how these DNA structures could be harnessed for therapeutic applications and to better understand their potential impact on diseases linked to gene expression.  

“We believe DNA-based regulations like the one we've described in this publication constitute major hitherto undescribed mechanisms coordinating human gene expression,” he said, “and their exploration will provide significant new insights into normal human gene expression and disease moving forward.”  

Read the new study in Nucleic Acids Research.

Medical students and pediatrics residents present research at regional meeting

Residents and medical students attend the Southern Society for Clinical Investigation regional meeting in New Orleans.

A record number of pediatrics residents from USA Health, along with students from the Whiddon College of Medicine, recently presented new research and case studies during the Southern Society for Clinical Investigation (SSCI) Southern Regional Meeting held in New Orleans.  

The SSCI is a regional academic society dedicated to the advancement of medically related research with a major focus on encouraging students and post-graduate trainees (residents and fellows) to enter academic medicine and to support junior faculty success in clinical investigation.  

Twenty-seven students and residents made presentations during the event hosted by Tulane University Health Sciences Center for Continuing Education.  

“Our residents' annual participation at SRM not only highlights their enthusiasm for scholarly work and the strong support from our faculty, but also reaffirms our pride in seeing them excel alongside the best from other institutions,” said Haidee Custodio, M.D., a professor of pediatrics at the Whiddon College of Medicine, and director of the pediatrics residency program at USA Health.   

Presenting authors included medical students Madeline Wing, Sachi Patel and Justine Magadia. Also presenting were pediatrics residents Carey Johnson, M.D.; Maya Augustine, M.D.; Jakarinya Mangalamoorthy, M.D.; Audrey Gunn, D.O.; Jordan Cooper, M.D.; Noor Buttar, M.D.; Shirisha Reddy Sandadi, M.D.; Nitheesha Alapati, M.D.; Juan Carlos Hernandez, M.D.; Tania Raygoza, M.D.; Iboro Udoete, M.D.; Shilpa Joseph, M.D.; Eru Sujakhu, M.D.; Noor Ibrahim, M.D.; Abdulrahman Bader, M.D.; Olumayowa Sholola, M.D.; Ana Flores, M.D.; Saswat Jha, M.D.; Erika Morales, M.D.; Chimeremeze Ndubuoke, M.D.; Bijay Shrestha, M.D.; Laxman Aryal, M.D.; Maria Jose Vera Sanchez, M.D.; and internal medicine resident Jose M. Acevedo Echevarria, M.D. 

The Southern Regional Meeting provides the platform and forum for collaborative interdisciplinary research and clinical applications. Physicians and healthcare professionals examine the most recent research findings in medicine to determine and inform future research projects based on the analysis of emerging research and applications for clinical practice.  

Submitting, presenting, defending and being open to collaborative interaction among peers is an important part of academic medicine training. The main goal of the Southern Regional Meeting is to bring together researchers, clinicians, and students to review current research and its impact on the future of clinical investigation and medical care. 

Class of 2025 to celebrate Match Day March 21

The Whiddon College of Medicine Class of 2025 will celebrate their residency program matches Friday, March 21, at the Mitchell Center on the University of South Alabama campus. The event begins at 10:30 a.m. 

On Match Day, the National Resident Matching Program will release results to senior medical students seeking residency positions in the United States and Canada. 

Graduating medical students from the Whiddon College of Medicine will join others from across North America to simultaneously open their envelopes with their assigned matches at 11 a.m. The students will take turns announcing their residency matches and pinning their locations on a map. 

The livestream will be available on the Mitchell Center's YouTube channel and shared on the Whiddon College of Medicine’s Facebook page.

First-year medical student to receive a community health leadership award

Nicole Lemon

By Milena Mata  

Nicole Lemon, a first-year medical student at the Whiddon College of Medicine, will be presented a Mobile Community Health Leadership Award by the Mobile Medical Museum. The award recognizes local leaders in education, awareness and action around the city’s most urgent community health issues. 

The award ceremony will take place on May 17 at the Strada Patient Care Center from 10 a.m. until noon. Funds raised through ticket sales for the event go toward museum programming.  

Multiple honorees receive the award each year, but Lemon is the only student recipient this year. Lemon is being recognized for her extensive volunteer work at Camp Kesem, Victory Health Partners, and the Mobile Medical Museum. 

Camp Kesem organizes summer camps for children whose parents have cancer. The camp provides a safe space for children across the country. Since 2020, Lemon has served in various positions on the leadership board for South Alabama’s chapter, including Make the Magic (MTM) coordinator, where she planned fundraising events, development coordinator, and co-director.  

“I understand the difficulty of being a child with a severely ill parent, and I am grateful I was able to help provide our campers with a safe place surrounded by people who are ready and willing to be there for them,” Lemon said. 

She also served as a triage volunteer for Victory Health Partners where she filed patient information. The nonprofit provides relief for uninsured adults in the Mobile area through healthcare services. 

“I loved volunteering at Victory because I have a passion for serving vulnerable populations,” she said. “I believe we’re often thinking about helping vulnerable groups in other areas, but Victory goes to show how many people need assistance in our local Mobile community and provides an opportunity to actively serve them.” 

In addition to her volunteer experience, Lemon completed an internship at the Mobile Medical Museum in 2023. The museum showcases the history of medicine and education in Mobile with artifacts to highlight scientific progress and education. It has multiple exhibits and a medicinal garden.  

Lemon worked on a project for the garden in which she wrote new descriptions for every plant, added new images, and designed brochures and signs with QR codes for the website. She wanted to make the descriptions more understandable for everyone to enhance educational accessibility. She also helped organize collections of historic medical equipment and even led scientific activities during field trips. 

“I am genuinely so grateful for this honor and for the Mobile Medical Museum’s dedication to highlighting the importance of public health education and community service,” Lemon said. “Professionally, this award means that my long-term goal to provide medical humanitarian assistance where it is needed most is something I am not only capable of but also something I am getting closer to doing every day.” 

“Personally, this award means the effort my classmates and I are putting in now to become culturally competent, compassionate providers is and will continue to pay off,” she continued. “I’m passionate about the importance of understanding an individual's culture to provide them with the best care, and I’m excited to continue learning and serving in Mobile.”  

Daryn Glassbrook, Ph.D., executive director of the Mobile Medical Museum, stressed the importance of this award. “We all dream of a community with clean air and water, safe schools and neighborhoods, well-adjusted, thriving children, and health care services that are affordable, accessible, and effective,” he said. “These leaders have the vision, empathy, and determination to place this dream within our reach.”