Scientists identify BC200 gene that has retained the ability to move through the genome — ScienceDaily
Researchers at Cornell University have found that the human gene BC200, which is predominantly expressed in neurons, is likely still capable of moving and integrating into genomes. This was indicated by the discovery of the BC200 genetic element in a poxvirus that infects humans, ScienceDaily reports.
A combination of two properties
BC200 originates from a transposon, a mobile DNA element that can change its position in the genome. Such elements can sometimes disrupt gene function if they integrate into genes, but over the course of evolution they can also participate in regulating other genes or become a source of material for new beneficial genetic functions.
About half of the human genome consists of DNA of transposon origin, but most such elements are no longer active. According to the study's senior author, Cedric Feschotte, genes that arose from transposons and adapted to cellular functions usually lose their ability to move. BC200, the scientists concluded, combines a cellular function with mobility.
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A trace in a poxvirus
BC200 occurs only in humans and closely related primates. It was discovered in the late 1980s as an abundant non-coding RNA in human neurons. The precise physiological role of BC200 has not yet been established, but available data suggest that it may affect the translation of messenger RNAs into proteins in nerve cells.
Scientists suggest that BC200 may have entered the molluscum contagiosum virus during infection of skin cells. Skin cells are the only cells known, according to available data, to be infected by this virus. BC200 is also present in small amounts in germ cells — sperm and egg cells — and therefore could potentially create new insertions in the genome that would be passed on to subsequent generations.
Further research
BC200 is abnormally expressed in some tumors and has also been detected in elevated amounts in the brains of people with Alzheimer's disease. The research team plans to determine whether BC200 moves actively in cancer cells and whether such movements can cause mutations. The paper on the work was published in the journal Science on September 24.