HUGO Gene Nomenclature Committee
Encyclopedia
The HUGO Gene Nomenclature Committee (HGNC) approves a unique and meaningful name for every known human gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

 based on a query of experts. In addition to a long name, the HGNC also assigns an abbreviation (referred to as symbol) to every gene. The HGNC is part of the Human Genome Organisation
Human Genome Organisation
The Human Genome Organisation is an organization involved in the Human Genome Project, a project about mapping the human genome. HUGO was established in 1989 as an international organization, primarily to foster collaboration between genome scientists around the world...

 (HUGO).

Purpose

Especially gene abbreviations/symbols but also full gene names are often not specific for a single gene. A marked example is CAP which can refer to any of 6 different genes (BRD4, CAP1, LNPEP, PTPLA, SERPINB6, and SORBS1).

The HGNC short gene names, or gene symbols, unlike previously used or published symbols, are specifically assigned to one gene only. This can result in less common abbreviations being selected but reduces confusion as to which gene is referred to.

Naming guidelines

The HGNC summarises its approach to naming genes and assigning symbols (gene name abbreviations) as follows:
  1. gene symbols must be unique
  2. symbols should only contain Latin letters and Arabic numerals
    Arabic numerals
    Arabic numerals or Hindu numerals or Hindu-Arabic numerals or Indo-Arabic numerals are the ten digits . They are descended from the Hindu-Arabic numeral system developed by Indian mathematicians, in which a sequence of digits such as "975" is read as a numeral...

  3. symbols should not contain punctuation
    Punctuation
    Punctuation marks are symbols that indicate the structure and organization of written language, as well as intonation and pauses to be observed when reading aloud.In written English, punctuation is vital to disambiguate the meaning of sentences...

     or "G" for gene
  4. symbols do not contain any reference to the species
    Species
    In biology, a species is one of the basic units of biological classification and a taxonomic rank. A species is often defined as a group of organisms capable of interbreeding and producing fertile offspring. While in many cases this definition is adequate, more precise or differing measures are...

     they are encoded in, i.e. "H/h" for human

The full description of HGNC's nomenclature guidelines can be found on their web site http://www.genenames.org/guidelines.html. HGNC advocates the appendices _v1, _v2,.. to distinguish between different splice variants
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...

 and _pr1, _pr2,.. for promoter variants of a single gene.

HGNC also states that "gene nomenclature should evolve with new technology rather than be restrictive as sometimes occurs when historical and single gene nomenclature systems are applied."

Naming procedure

When assigning new gene nomenclature the HGNC make efforts to contact authors who have published on the human gene in question by email, and their responses to the proposed nomenclature are requested. In order to work in a timely manner, there is typically a two week time limit to respond but the deadline can be extended. HGNC also coordinates with the related Mouse and Rat Genomic Nomenclature Committees, other database curators, and experts for given specific gene families or sets of genes.

Revision

The gene name revision procedure is similar to the naming procedure, but changing a standardised gene name after establishment of a consensus can create confusion and the merit of this is therefore controversial. For this reason the HGNC aims to change a gene name only if agreement for that change can be reached among a majority of researchers working on that gene.

See also

  • Human Genome Organisation
    Human Genome Organisation
    The Human Genome Organisation is an organization involved in the Human Genome Project, a project about mapping the human genome. HUGO was established in 1989 as an international organization, primarily to foster collaboration between genome scientists around the world...

     (HUGO)
  • Human Genome Project
    Human Genome Project
    The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...

  • human genome
    Human genome
    The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining...

  • gene
    Gene
    A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

  • gene nomenclature
    Gene nomenclature
    Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and...


External links

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