Date: 3 August 2020
Institution: European Molecular Biology Laboratory- European Bioinformatics Institute (EMBL-EBI)
Study published in: Nature Genetics.
Digest: Scientists have updated a comprehensive set of guidelines to name novel human genes. These guidelines ensure that a specific gene receives a systematic symbol and name, helping geneticists gather all the information they need from literature databases. Having a unique, official name for every human gene aids communication between researchers and clinicians, as well as charities for genetic disorders and the general public.
The human genome harbours about 19 000 protein-coding genes, many of which still have no known function. As scientists unveil the secrets of our DNA, they come across novel genes that they need to refer to using a unique name. But how do you choose a name for a gene? The Human Genome Organisation’s Gene Nomenclature Committee (HGNC) at EMBL’s European Bioinformatics Institute (EMBL-EBI) has published set of guidelines to help scientists when naming a new gene. This enables researchers, clinicians and patients, charities, the biomedical industry, the media, and the general public to use the same name when referring to a specific gene.
Human genes and relatives
A gene is a distinct segment of DNA that carries instructions for creating a specific product, either RNA – a close chemical cousin of DNA – or a protein. RNA and proteins perform a vast array of functions in the body. For example, they influence what cells look like and what they do within the body.
Many of the genes that our DNA carries are present in the DNA of other species. From birds to insects, fungi, or bacteria, many organisms share part of our genetic makeup. These related genes in other species, called orthologues, are often studied in model species such as fruit flies before scientists name their human equivalent.
“When a human gene has an already named orthologue in another species, we try to keep the same gene name across species. However, we need to be mindful of several things, including whether the name could be offensive or pejorative,” says Elspeth Bruford, HGNC Coordinator.
“The police of gene names and symbols”
Genes need unique names and symbols that the community can use in a consistent way. Ideally, gene names should describe the function of the gene product, while gene symbols should be a short version of the name that people can easily look up in literature databases.
The HGNC reviews and approves the names and symbols of novel human genes. These systematic symbols provide practical tools to communicate about genes.
“In a way, we are the police of gene names and symbols, because we give genes their standardised official names. We establish and follow clear rules to make sure gene names are consistent across the literature and, when possible, across species,” explains Susan Tweedie, HGNC Gene Nomenclature Advisor.
Researchers are often unaware of these rules, and think they can freely choose a name for the novel gene they are studying. This can lead to very creative – yet sometimes inappropriate or impractical – ideas. Bagpipe, Pokemon, lunatic fringe, and TRAMP are just a few examples of gene names and aliases that the HGNC has had to review over the years. Importantly, many of these genes or their orthologues already have official names, catalogued by the HGNC.
“We really want researchers to contact us ahead of publishing new gene names and symbols, so that we can review and approve their ideas before it’s too late,” says Ruth Seal, HGNC Gene Nomenclature Advisor. “Researchers need to name human genes while considering their potential use in a clinical setting. This means genes can’t be named after a person, a fictional character, or named by the public. These guidelines might not seem very captivating, but the resulting gene symbols do help researchers quickly find everything they need to know about their gene of interest.”
Interested in original study: read here