Researchers of the Lunenfeld-Tanenbaum Research Institute (Canada) have revealed that certain segments of DNA, known as transposons or “selfish DNA”, play a fundamental role in the early development of the human embryo. Contrary to the belief that these elements only caused harmful mutations, the study shows that LINE-1 transposons are essential for embryonic cells to progress correctly.
Transposons are DNA sequences that can move within the genome, sometimes causing mutations, but also playing important roles in gene regulation and development.
This discovery, published in ‘Developmental Cell‘, discovery challenges our previous understanding of these elusive DNA segments, shedding new light on the role they play in human development and disease.
For years, scientists believed that these elements were mostly harmful, sometimes wreaking havoc on the genome and contributing to a variety of diseases, from hemophilia to neurological disorders and cancer.
“There is a tendency to think that transposons are something similar to viruses that hijack our cells with the sole purpose of spreading,” explains the study’s lead co-author, Miguel Ramalho-Santosprincipal investigator. “We have discovered that these elements are not mere genomic parasites, but are essential for early development,” adds Ramalho-Santos.
This finding has potential applications in fertility treatments and regenerative medicine, and opens new doors to explore its involvement in diseases such as cancer and neurological disorders.
The scientists found that inhibiting LINE-1 in embryonic stem cells caused a regression to a primitive phase, demonstrating its importance in cellular specialization.
Regenerative medicine
The results suggest that these genetic elements not only help organize DNA within the nucleus, but are also key to the normal progress of the embryo.
The research has important implications for fertility treatments and the use of stem cells in regenerative medicine. Furthermore, this work reveals new functions for LINE1 that can now be explored in the pathological contexts in which it has been implicated, from neurological disorders to cancer.
Anne-Claude Gingras, director of the LTRI and vice president of research at Sinai Health, notes that “the research highlights how much there is still to learn, not only about human development, but also about these enigmatic elements of the genome, whose functions are just “They are starting to emerge.”
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