Researchers Unlock Mystery of “Robertsonian Translocations” with New Genome Sequencing Technology
Washington, D.C. – A research team has solved a long-standing genetic puzzle surrounding a specific type of chromosome abnormality known as a robertsonian translocation, using cutting-edge genome sequencing technology. These translocations, where two chromosomes fuse together, were previously arduous to understand due to limitations in older sequencing methods. The findings could have implications for understanding genetic diseases adn chromosome evolution.
Traditionally, human genomes – comprised of 3 billion letters of DNA – were sequenced by breaking them into short fragments and then reassembling them. This process proved challenging when dealing with regions containing repeating DNA sequences, making it difficult to determine how the pieces fit together.
“It was like putting together a puzzle with extremely small parts,” explained Adam Phillippy, director of the Center for Genomics and Data Science at the National Human Genome Research Institute. “Large areas of heaven or grass are difficult to put together. Recent technologies offer larger puzzle parts that are easier to put together.”
The new study, published September 24, 2025, revealed that these short, repeating segments contain the precise breaking points in the translocations observed in three individuals carrying Robertsonian chromosomes. Researchers identified these regions as ”recombination hotspots,” where chromosomes align and can exchange genetic information, sometimes resulting in breaks.
the team also discovered a potential reason why chromosome 14 is especially prone to these translocations. It appears the chromosome contains repetitive segments written in reverse, allowing it’s long arms to combine with another chromosome when aligned and a break occurs.
Phillippy’s team is now utilizing databases to identify individuals with Robertsonian chromosomes to investigate whether they exhibit increased susceptibility to specific diseases or health risks.
“I think this study is very important,” said André Marques,group leader at the Max Planck Institute for Plant Breeding Research. ”The study really shows how a human chromosome can merge, a long-standing mystery that contributes a lot to explain both genetic diseases and the engine of chromosome development.”
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About the Author:
Carolyn Johnson is a science journalist. Previously, she reported on the healthcare system and the affordability of health services for consumers. Email: carolyn.johnson@washpost.com. Signal: carojo.55
