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Sunday, 07 September 2008 10:11 pm  
 
HUGO Gene Nomenclature Committee
 
 

For each known human gene the HUGO Gene Nomenclature Committee approve a gene name and symbol (short-form abbreviation). All approved gene symbols are stored in the HGNC Database. Each symbol is unique and the HGNC ensure that each gene is only given one approved gene symbol. It is necessary to provide a unique symbol for each gene so that we and others can talk about them, it also facilitates electronic data retrieval from publications. In preference each symbol maintains parallel construction in different members of a gene family and can also be used in other species, especially the mouse. The HGNC have already approved over 24,000 symbols for protein-coding genes, pseudogenes, RNAs, phenotypes and genomic features. Their current priority is assigning nomenclature to the estimated 3,000 unnamed protein coding human genes, especially those identified by the CCDS project. In addition to these, individual new symbols are requested by scientists, authors submitting to journals that insist on the use of approved gene nomenclature (e.g. Nature Genetics, Genome Research, Genomics) and other databases that use HGNC gene symbols (e.g. Ensembl, Entrez Gene, UniProt). In all cases considerable efforts are made to use a symbol acceptable to workers in the field.

History

Problems of nomenclature in human genetics were recognised as early as the 1960s and in 1979 full guidelines for human gene nomenclature were presented at the Edinburgh Human Genome Meeting (HGM). Since then we have continued to strike a compromise between the convenience and simplicity required for the everyday use of human gene nomenclature and the need for adequate definition of the concepts involved.

The committee has grown from a single force (Dr Phyllis J. McAlpine) to a team of post-docs and bioinformaticians. For eleven years, from 1996-2007, the HGNC was chaired by Professor Sue Povey and based at University College London (UCL). In September 2007 the HGNC relocated to the European Bioinformatics Institute (EBI), to join the PANDA (Protein and Nucleotide Database) group. We regularly attend international meetings such as HUGO's Human Genome Meeting (HGM) and the American Society of Human Genetics (ASHG) conference, and sometimes hold workshops in conjunction with these. This ensures that we are approving gene names in line with the needs of the scientific community.

Organisation

We are a non-profit making body which is jointly funded by the Wellcome Trust (UK) and the US National Human Genome Research Institute (NHGRI). We operate under the auspices of The Human Genome Organisation (HUGO), with key policy advice from an International Advisory Committee (IAC). We also use a team of specialist advisors who provide support on specific gene family nomenclature issues, and work in close collaboration with staff at MGNC and RGNC.

Confidentiality

All enquiries are handled confidentially and unpublished information is never disclosed without explicit permission from the submitters. Further information regarding confidentiality can be found on the HGNC Website

Guidelines

Guidelines for Human Gene Nomenclature (Wain, Bruford, Lovering, Lush, Wright and Povey, 2002)

Committee Members

Dr Elspeth Bruford
Project Co-ordinator

Elspeth A. Bruford received her Ph.D. mapping retinal diseases at the MRC Human Genetics Unit, Edinburgh. After working in publishing, she moved to University College London in 1998 to join the HUGO Gene Nomenclature Committee, of which she is now the Project Co-ordinator. From 2000-2007 she was also the Managing Editor of the Annals of Human Genetics. In 2007 Elspeth gained funding from the Wellcome Trust and NHGRI to relocate the HGNC to the European Bioinformatics Institute at Hinxton, UK. Elspeth plays an active role in the annotation of the human genome, including collaborations with all the major human genome sequencing centres and participation in the H-Invitational, and has attended all of the last eight HGM meetings.

Dr Mathew Wright
Gene Nomenclature Advisor

Matt Wright received his Ph.D. in Neuroscience from the Institute of Ophthalmology, University College London (UCL), and subsequently worked on nicotinic acetylcholine receptors at the University of Manchester. He joined the HGNC in 2000, and coordinated the HUMOT (Human and Mouse Orthologous Annotation) project. Since the move to the EBI in 2007 he now specialises on RNA nomenclature.

Dr Michael Lush
Senior Bioinformatician

Michael Lush received his Ph.D. at Leicester University entitled 'Molecular cloning of Neuropathy Target Esterase'. Subsequently taking a position cloning T-cell antigens and autoantigens in psoriasis (Leicester University). In 2000, he joined the HUGO Gene Nomenclature Committee providing vital Bioinformatics support.

Further Information
To contact the HGNC directly please email: hgnc@genenames.org or visit http://www.genenames.org/

Frequently asked questions concerning human gene nomenclature can be found here, and if you have any other questions or comments for the HGNC please complete our feedback form at http://www.genenames.org/cgi-bin/hgnc_feedback.pl

 
 
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