Cornell University researchers have developed a groundbreaking DNA sequencing technology that enhances the understanding of transposons—genetic elements that play significant roles in immune response, neurological function, and genetic evolution. This advancement, detailed in a paper published on November 21, 2023, in the journal iScience, may lead to agricultural innovations and deeper insights into disease mechanisms and treatment options.
Revolutionizing Genome Research
The study, led by Patrick Murphy, Ph.D., an associate professor of molecular biology and genetics, employs a high-resolution genome mapping technique known as CUT&Tag. This method overcomes limitations of traditional sequencing techniques, allowing researchers to explore the transposon-rich segments of the genome that were previously overlooked.
Transposons, often referred to as “junk DNA” until recently, constitute nearly half of the human genome. They originated from ancient viruses that integrated into the genetic material of our ancestors. As Dr. Murphy explains, “If you survive a viral infection, the virus becomes dormant, but the virus’s DNA sticks around. If that DNA gets into a sperm or an egg cell, then it can be passed on to the next generation.” This evolutionary process has occurred thousands of times, embedding these elements into our DNA.
Originally identified in maize by Barbara McClintock in the late 1940s, transposons can cause genetic mutations that may lead to diseases like hemophilia and certain cancers or provide protective effects against various infections. They also play crucial roles in early human development, activating stem cell formation and supporting placental growth, which has been vital for mammalian evolution.
Implications for Future Research and Treatments
Despite the existing knowledge about transposons, much remains enigmatic due to the historical focus on liquid genetic material, often discarding the solid components where transposons reside. Dr. Murphy notes, “What our study finds is that the solid part is where all the transposons are.” The introduction of CUT&Tag, initially developed by researchers at the Fred Hutchinson Cancer Research Center in Seattle in 2019, has paved the way for new explorations within this previously neglected portion of the genome.
The potential applications of this research extend beyond basic science. For instance, some cancer therapies aim to activate transposons to stimulate the immune system’s response against tumors. A better understanding of these mechanisms could enhance the precision and effectiveness of such treatments.
Looking ahead, Dr. Murphy anticipates a significant shift in genomic research: “Because of these new methods and technologies, I think in the next five to 10 years we’re going to be entering a golden age where we start to really understand how transposons work, and whether they can be taken advantage of in things like clinical therapy, fertility treatment, and understanding organismal development.” He emphasizes that the implications of this research are far-reaching, affecting agriculture, microbiology, and human health.
Brandon Park, the first author of the paper and a former doctoral student in Dr. Murphy’s lab at the University of Rochester, contributed significantly to this work. Other co-authors from Cornell include Shan Hua, a postdoctoral associate; Karli Casler, a researcher; and Kristin Murphy, Ph.D., a senior research associate in the College of Veterinary Medicine. The study also received contributions from the lab of Mitchell O’Connell, an associate professor at the University of Rochester. Funding for the research was provided by the National Institutes of Health.
This research marks a pivotal moment in genomic studies, promising to enhance our understanding of complex genetic phenomena and their applications in various fields.
