A new study identifies mutations that transform seemingly useless DNA sequences into potential genes by endowing their encoded RNA with the skill to escape the cell nucleus—a critical step toward becoming translated into a protein.
Biologists have long known that new protein-coding genes can arise through the duplication and modification of existing ones. But some protein genes can also arise from stretches of the genome that once encoded aimless strands of RNA instead. How new protein genes surface this way has been a mystery, however.
A decade ago, Chuan-Yun Li, an evolutionary biologist at Peking University, and colleagues discovered that some human protein genes bore a striking resemblance to DNA sequences in rhesus monkeys that got transcribed into long noncoding RNAs , which didn’t make proteins or have any other apparent purpose. Li couldn’t figure out what it had taken for those stretches of monkey DNA to become true protein-coding genes in humans.
Li’s team scoured the human and chimpanzee genomes for de novo protein-coding genes that had lncRNA counterparts in rhesus monkeys, as well as the crucial U1 element mutations needed to exit the nucleus. Eventually they came up with 45 exclusively human genes and 29 genes shared by humans and chimps that fit the bill. Next, the researchers homed in on nine of these protein genes that are active in the human brain to see whether they could learn what each was doing.
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