Standardized Human Gene Nomenclature
Independent
discovery of the same gene by more than one group of investigators is
not uncommon‚ resulting in different names for a single gene. In
order to prevent nomenclature chaos‚ the information arising from
these independent discoveries must be standardized.
The use of systematic‚ consistent and hierarchical terminology not only provides a foundation for generating integrated databases and linking to related resources‚ but also ensures efficiency and accuracy when retrieving information. Some scientific journals now insist upon an approved gene nomenclature prior to publication of an article‚ a reflection of the benefit that can be gained by establishing and adopting standardized terminology.
Human Gene Nomenclature Committee
For over twenty years‚ the international Human Gene Nomenclature Committee (HGNC) has been recognized as the authority for assigning human gene names and symbols. The HGNC is authorized by the Human Genome Organization (HUGO) and is funded in part by several U.S. governmental agencies‚ including the National Institutes of Health. HGNC objectives include the promotion of universal acceptance and utilization of standardized nomenclature and coordination of terminology across species‚ particularly among mammals. HGNC consults with other nomenclature committees‚ expert groups‚ the international scientific community‚ and individual researchers when considering nomenclature schemes to avoid duplication and to indicate evolutionary relationships. Names are also chosen to reflect normal gene function and sequence relationships between genes.
The HGNC database contains over 11‚700 unique symbols for human genes‚ with an expected 7 to 15-fold increase over the next few years. New genes requiring nomenclature are identified through three principal mechanisms: direct queries from investigators; queries from other databases and collaborating curation groups; and literature scans of major scientific journals. This last mechanism is complemented by the large-scale literature scan carried out by the Online Mendelian Inheritance in Man (OMIM) database. Public access to OMIM‚ a catalog of human genes and genetic diseases‚ is available from the NCBI Web site. The HGNC also provides access to nomenclature guidelines‚ an online submission form‚ and a nomenclature database.
After identifying a gene that requires naming‚ HGNC assigns a unique identification number that links directly to descriptive information and a nucleotide sequence‚ if available. The descriptors used to differentiate genes include the MIM number‚ literature citations‚ one or more sequence accession numbers‚ and cytogenetic data. This information is obtained via various databases maintained at NCBI. HGNC also provides links to other NCBI resources‚ such as PubMed and LocusLink‚ with a planned link to NCBI’s reference sequences (RefSeq).
The
NCBI Connection: Use of HGNC’s Names
The official nomenclature established by HGNC‚ as well as the official nomenclature generated by other nomenclature committees‚ is an integral component of NCBI’s LocusLink and RefSeq resources. When available‚ an official gene name and symbol are the preferred labels for a gene in LocusLink and are incorporated into the RefSeq mRNA and genome annotation records. NCBI also provides a link to the respective committee’s source records for any individual requiring further information.
Access
to Nomenclature Database
For more information on HGNC and to access the nomenclature database‚ visit their Web site at www.gene.ucl.ac.uk/nomenclature.
Other
Nomenclature Groups
Nomenclature committees for zebrafish‚ fruit fly‚ mouse‚
rat‚ yeast‚ and human‚ plus additional nomenclature resources‚
are listed on NCBI’s Web site. From the LocusLink home page‚
follow the Nomenclature link. —CB‚
DM
