Humans may have twice as many functional genes

Understanding our DNA - new study

While some genes in our DNA control the colours of our eyes, hair and even our risk of disease, other genes seem to serve no apparent biological function, but new research suggests that many of these genes may be functional after all. 

A new landmark study published today in Nature, has taken a closer look at genes of long non-coding RNAs (Ribonucleic acids), to assess whether or not they were being expressed in human cells and tissues and have a function after all.

RNAs are well known to carry information of transcribed genes of our genome, to be used as the building plan for proteins, the main actors in our cells. However, many RNAs do not get translated into proteins, and for most of those non-coding RNAs, their functionality is a source of scientific debate.

The team of international researchers produced a comprehensive collection (28,000) of long non-coding RNA molecules and summarised for the first time their expression pattern in the major human cell types and tissues and found evidence of evolutionary selection and links with major diseases.

Co-author Dr Sebastian Schmeier of the Institute of Natural and Mathematical Sciences says, “we may have twice as many functional genes as originally thought.”

“We found that a big portion, around 19,000, are likely functional, almost doubling the estimate of known functional genes. There are many elements in our genome that we do not completely understand yet. Uncovering what they are exactly doing in our cells will be the next great challenge,” Dr Schmeier says.

To date, several long non-coding RNAs have been implicated in many important biological processes as well as diseases, including cancer. The data generated in this study provides a platform for selecting additional long non-coding RNAs for further targeted studies.

Dr Sebastian Schmeier and his PhD student Elena Denisenko, both co-authors of the study, were involved early on to investigate mutations in these genes. The research was conducted as part of a worldwide collaborative project FANTOM (Functional ANnoTation Of the Mammalian genome), which aims to identify all functional elements in mammalian genomes.

The long non-coding RNA catalogue is available here.

To learn more about Dr Schmeier’s work click here