Researchers at Cornell University have discovered that BC200, a genetic element expressed primarily in neurons, combines characteristics that were previously thought to be mutually exclusive in human genes. The finding was published in Science on September 24. BC200 not only serves an important biological function related to brain activity but also behaves as a transposon, or “jumping gene,” capable of moving and inserting itself into different locations within the genome.
Transposons are genetic elements derived from DNA sequences that can relocate themselves within genomes. While such elements can sometimes cause harm by disrupting genes and potentially contributing to disease, they have also provided evolutionary benefits by helping to regulate existing genes or contributing genetic material that becomes incorporated into new genes. Approximately half of the human genome consists of DNA derived from transposons, though most of these elements are no longer active and only a small fraction retain the ability to move independently.
The case of BC200 is unusual because genes that originate from transposable elements and have been repurposed for cellular functions typically lose their mobility over evolutionary time. BC200 defies this pattern by maintaining both its jumping capability and a clear cellular role, likely related to how neuronal messenger RNAs are translated into proteins. The gene also appears in germ cells at low levels, suggesting it could potentially create new insertions that might be inherited by future generations.
Scientists first documented BC200 in the late 1980s as a highly abundant non-coding RNA in human neurons. The discovery that this gene has inserted itself into the molluscum contagiosum virus represents a rare documented case of a human genetic element transferring to a virus. Researchers believe the transfer may have occurred while the virus was infecting skin cells, the only cell type known to be susceptible to this virus.
BC200 has attracted additional research interest due to its abnormal expression in certain tumors and elevated levels detected in the brains of people with Alzheimer’s disease. These observations raise questions about whether BC200’s mobility might contribute to disease development. Researchers plan to investigate whether the molluscum contagiosum virus uses BC200 to affect human host cells and whether active movement of BC200 in cancer cells creates mutations associated with breast cancer and other tumors.
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