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\u2022 Researchers have identified a gene that combines characteristics never before seen together in a single gene.<\/p>\n
\u2022 This \u201cjumping gene,\u201d which also plays a role in brain function, can copy and insert itself elsewhere in the genome\u2014and it has turned up in troubling places, including diseased cells.<\/p>\n
\u2022 It\u2019s the first human gene known to be mobile that also appears to serve a normal cellular function\u2014and it\u2019s even escaped into a poxvirus.<\/p>\n
The gene BC200 has been known for decades, but a new look at its behavior raises quite a few questions\u2014and the answers aren\u2019t all encouraging. In a first, researchers found that this \u201cjumping gene<\/a>\u201d appears to serve an important role in human neurons even as it continues to copy itself into new locations, including, at some point during modern human history, the genome of a human poxvirus.<\/p>\n Writing in the September 24 issue of Science<\/a>, a team from Cornell University, Capital Normal University in Beijing, and the University of Texas at Arlington concluded that BC200\u2019s mix of traits has never been documented in a gene before. The gene, they concluded, \u201cblurs the line between gene and transposon, combining stable function with persistent mobilization, including a recent escape into a human poxvirus.\u201d<\/p>\n A transposon<\/a>\u2014better known as a jumping gene\u2014has an unusual ability: it can copy itself into a new spot in the genome, and if it lands inside an existing gene, it can disrupt that gene\u2019s normal function, sometimes causing disease. But transposons can also use their powers for good; over millions of years, the researchers wrote, they can be domesticated into useful regulators of other genes. In fact, the team noted, transposons account for roughly half of all human DNA, though the vast majority have long since gone inert, and only a minuscule fraction remain mobile. What scientists had never seen until now was a human gene that is simultaneously mobile and necessary for a cellular function. BC200 changes that.<\/p>\n \u201cGenes that come from transposable elements and that are repurposed for cellular functions are typically no longer transposable,\u201d C\u00e9dric Feschotte, a professor in Cornell\u2019s Department of Molecular Biology and Genetics and senior author of the study, said in a statement<\/a>. \u201cBC200 was itself created from a mobile element but has retained its mobility, and yet it is also clearly serving a cellular function. Somehow evolution hasn\u2019t been able to untangle these two things.\u201d<\/p>\n Exactly what that cellular function is, however, remains unsettled. BC200 was first described in the late 1980s as a non-coding RNA<\/a> in human neurons, and the leading theory holds that it helps regulate the translation of neuronal messenger RNAs into proteins. The gene is also expressed at low levels in germ cells\u2014think sperm and eggs\u2014which means that any new copies it makes there could be passed down to future generations.<\/p>\n Taken together, the findings suggest that at some point over millions of years, BC200 acquired a cellular role without ever losing its ability to copy and paste itself back into the genome.<\/p>\n
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