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Nomenclature,
Genes, proteins, species for biopharmaceutical research
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K. Tipton and
S Boyce in “History of the enzyme nomenclature system” write that “ambiguities in the words used for common
objects or actions have been the basis for many, more- or- less memorable
jokes, they can also cause a great deal of confusion … in the sciences
... many groups have stressed the need for standardized, universally accepted
systems of nomenclature in chemistry, genetics, enzymology, etc. However,
it is the universal acceptance that usually causes the problem. It is rare
to find people who will admit that they find nomenclature to be an interesting
subject, but many who profess contempt for it will get very excited if
it is suggested that their pet nomenclature should be changed in the interest
of clarity or uniformity.” Bioinformatics
16(1): 34- 40 Jan 2000
Biology & Chemistry Map:
Finding guide to terms in these glossaries
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Map
Related glossaries
include Functional genomics, Model
& other organisms
Carbohydrate nomenclature
IUPAC-IUB Joint Commission
on Biochemical Nomenclature (JCBN), Nomenclature of glycoproteins, glycopeptides
and peptidoglycans, Recommendations 1985. http://www.chem.qmw.ac.uk/iupac/misc/glycp.html
IUPAC Chemical Identifier Project http://www.iupac.org/nomenclature/chem_id_project.html
The aim of the Chemical Identifier project is to establish a unique label, the IUPAC Chemical Identifier (IChI), which would be a
non- proprietary identifier for chemical substances that could be used in printed and electronic data sources thus enabling easier linking of diverse data and information compilations.
Clone nomenclature:
Standardized clone names, NCBI http://www.ncbi.nlm.nih.gov/genome/clone/nomen.html
drug nomenclature,
clinical: RxNorm is a clinical drug
nomenclature produced by NLM, in consultation with the Food and Drug
Administration (FDA), the Department of Veterans Affairs (VA), and the Health
Level 7 (HL7) standards development organization. RxNorm provides standard names
for clinical drugs (active ingredient + strength + dose form) and for dose forms
as administered. It provides links from clinical drugs to their active
ingredients, drug components (active ingredient + strength), and some related
brand names. To the extent available from the Food and Drug Administration, NDCs
(National Drug Codes) for specific drug products that deliver the clinical drug
are stored as attributes of the clinical drug in RxNorm. RxNorm, UMLS,
National Library of Medicine, US http://www.nlm.nih.gov/research/umls/rxnorm_main.html
Enzyme Nomenclature
A classification according to the
Enzyme Commission (EC) of the IUBMB (International Union of Biochemistry
and Molecular Biology). Enzymes are allocated four numbers, the first of
which defines the type of reaction catalyzed, the next two define the substrates,
and the fourth is a catalogue numbers. Categories of enzymes are EC 1,
Oxidoreductases; EC 2 Transferases; EC 3 Hyedrolases; EC 4 Lyases, EC 56
Isomerases; EC 6 Ligases (Synthetases). [IUPAC Bioinorganic]
Enzyme Nomenclature, Nomenclature
Committee of the International Union of Biochemistry and Molecular Biology,
July 2000] http://www.chem.qmw.ac.uk/iubmb/enzyme/
Gene nomenclature - integrating Genes with multiple aliases seem to be the rule, rather than the exception,
whereas genes that have no functional relationship with each other can often
bear the same names. As biologists strive to make sense of the growing wealth of
genomic information, this messy nomenclature is becoming a bugbear. ... Attempts
to impose standard names across the board are meeting stiff resistance, and
approaches that would give genes unique ID numbers seem unlikely to take off
unless journals enforce the system. But a coalition of leading geneticists may
have the answer. The Gene Ontology (GO) Consortium is sidestepping the naming
issue by developing 'controlled vocabularies'. These will allow software to scan
the genomic databases and link related genes to one another using terms that
consistently describe their functions, regardless of what the genes are called.
Helen Pearson "Biology's name game" Nature 411: 631-632, 7 June 2001
Human gene nomenclature
HUGO Gene
Nomenclature Committee http://www.genenames.org/ Human gene mutation nomenclature
JT Dunnen, SE Antonarakis SE "Mutation nomenclature extensions and
suggestions to describe complex mutations: a discussion" Human Mutation
2000; 15 (1): 7- 12 While a codified mutation nomenclature system for simple
DNA lesions has now been adopted broadly by the medical genetics community, it
is inherently difficult to represent complex mutations in a unified manner. In
this article, suggestions are presented for reporting just such complex
mutations.
See also the further note on Human Gene Nomenclature at the end of this
webpage.
Model organisms
The
Gene OntologyTM project is a collaboration between the Arabadopsis,
C. elegans, Drosophila, mouse
and Saccharomyces people.
http://www.geneontology.org Gene
definitions See
also Model organisms
glossary.
C. elegans
Nomenclature: http://wiki.wormbase.org/index.php/UserGuide:Nomenclature post-genomic nomenclature:
Ideally,
our formalized system of nomenclature is supposed to improve communication among
biologists. In reality, it seems to be a major obstacle, especially when
misapplied. Although the problem is evident in the literature, it is most
severe in the sequence databases, which now serve as the principal source and
repository of data used in comparative biology. Moreover, the sequence
databases tend to propagate such errors for a variety of reasons. As
biological data proliferates and interconnects, it depends increasingly on
software infrastructure, and it becomes increasingly obvious that biological
names do not meet the requirements of a good identifier, in strict computing
terms. A good identifier should be unique and persistent. As an
outgrowth of my current DOE funded project, we have been exploring a practical
and workable solution that we believe will help solve the problem in a future-
roof fashion. Dr. George Garrity – “Carolus Linneaus in the postgenomic
era” Contractor Grantee Workshop, DOE Genomes to Life, US, Feb. 9-12,
2003 http://genomicscience.energy.gov/pubs/2003abstracts/comparative.shtml#page=news Protein nomenclature
Species nomenclature: Taxonomy, NCBI, US http://www.ncbi.nlm.nih.gov/Taxonomy/taxonomyhome.html/
See also Phylogenomics glossary: species
Taxonomic databases are rather controversial since the soundness of the taxonomic classifications done by one taxonomist will be directly questioned by next taxonomist! Various efforts are going on to create a taxonomy resource (e.g. "The Tree of Life" project
(http://phylogeny.arizona.edu/tree/life.html), "Species 2000"
(http://www.sp2000.org/??), International Organization for Plant Information
(http://iopi.csu.edu.au/iopi/), Integrated Taxonomic Information System
(http://www.itis.usda.gov/itis/), etc.). The most generally useful taxonomic database is that maintained by the NCBI
[see above] http://www.ncbi.nlm.nih.gov/Taxonomy/
This hierarchical taxonomy is used by the Nucleotide Sequence Databases, SWISS-PROT and TrEMBL, and is curated by an informal group of experts.
[Introduction to Molecular Biology Databases, R. Apweiler, R. Lopez, B. Marx,
1999 http://www.ebi.ac.uk/panda/Publications/mbd1.html
uBio:
An initiative within the science library community to join international efforts
to create and utilize a comprehensive and collaborative catalog of names of all
living (and once- living) organisms. The Taxonomic Name Server (TNS) catalogs
names and classifications to enable tools that can help users find information
on living things using any of the names that may be related to an organism.
Universal Biological Indexer and Organizer, Marine Biological Laboratory/ Woods
Hole Oceanographic Institution Library http://www.ubio.org/index.php
HGNC Nomenclature:
Genes, weights and measures, animals, elements, and planets. H. Wain,
E. Bruford, A. Duncanson, R. Lovering, S. Povey July 2000
Since the inception of the HGNC,
the numbers of databases have continued to expand with many more now available
online. This means that standardised gene symbols are even more important
as they ensure correct labelling of any individual gene across the breadth
of databases available. All the major databases containing information
on human genes now use the HGNC standard for approved symbols. Thus, when searching
with the symbol ABCC1 information about only that gene will be retrieved
from LocusLink, GDB, OMIM, GeneCards, GenBank and GENATLAS. This standardisation
will become more crucial once the whole of the human genome is sequenced;
there are now over 10,400 approved gene symbols in the HGNC online database ... However, it is not just human gene
databases which are making use of the information and invaluable curation
skills of the HGNC, but also many other organism gene databases. Where
possible, these try to use the same gene symbols for confirmed orthologous
genes in order to maintain consistency and searchability.
There
are a number of journals which now insist on the use of approved gene symbols.
These include: Genomics, Nature Genetics, The Annals of Human Genetics,
Mammalian Genome, Cytogenetics and Cell Genetics and of course,
Radiation Research. There are also a number of other journals which mention
nomenclature in their instructions to authors. Thus the penultimate barrier
to accurate information retrieval is being overcome, as approved symbols
can now be found in the literature databases such as PubMed contained in
the titles and abstracts. Some journals have tried to include all known
aliases of a particular gene in a publication to ensure understanding by
all parties. This is unnecessary and confusing, so our recommendation is
to use the approved symbol alongside the alias favoured by the author in
the title and/ or abstract and to use the favourite symbol (preferably the
approved one) in the rest of the paper. Radiation Research 154, 1-2, 2000 http://www.radres.org/i0033-7587-154-01-0001.pdf
2008 Update http://www.genenames.org/sites/genenames.org/files/documents/PMID17984084.pdf
HUGO Gene
Nomenclature Committee http://www.genenames.org/
Evolving terminology for emerging
technologies
Comments? Revisions? Questions? mchitty@healthtech.com
Last revised December 20, 2012
View a Printer-Friendly Version of this Web Page!
IUPAC-IUBMB Joint Commission on
Biochemical Nomenclature, Nomenclature of Carbohydrates, Recommendations,
1996 http://www.chem.qmw.ac.uk/iupac/2carb/
Links to individual enzyme documents,
includes citations for published versions.
While the Gene OntologyTM
Consortium http://www.geneontology.org/
Functional genomics glossary
is not dealing specifically with gene nomenclature their efforts at
integrating terminology are an important step being able to compare genes
in any number of organisms (plants, model
organisms, and animals including humans).
There is "currently no official
nomenclature for human genes, however, the Human Gene Nomenclature Committee
(part of HUGO) is currently trying to establish a nomenclature standard
and does have a recommended format. The Human Gene Nomenclature Committee
is the accepted authority for establishing these standards. For new
genes lacking official nomenclature the research community is encouraged
to use the Nomenclature Committee web form to submit a proposed gene symbol
and name, thus creating a community provided name. In general, the
research community does try to conform to using pre- existing names but
these names might not be the current official nomenclature name so situations
do arise where a single gene is being called by multiple names. There
is no enforcement of this suggested nomenclature method and investigators
are free to name a gene as they wish. [dbSNP FAQ # 6, NCBI, US] http://www.ncbi.nlm.nih.gov/SNP/get_html.gene
nocgi?whichHtml=faq
HGNC Gene Grouping
Family Nomenclature
http://www.genenames.org/genefamily.html
Nomenclature for the Description of Sequence Variations, Human
Genome Variation Society. 2007 http://www.hgvs.org/mutnomen/
Standardized Human Gene Nomenclature, NCBI News, Fall/ Winter 2000 http://www.ncbi.nlm.nih.gov/Web/Newsltr/FallWinter2000/nomenclature.html
Mutations "Recommendations for a nomenclature system for human gene
mutations, Nomenclature Working Group Human Mutation 11(1):1-3 1998 http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1098-1004(1998)11:1%3C1::AID-HUMU1%3E3.0.CO;2-O/abstract
Drosophila
Nomenclature: http://www.flynome.com/
Mouse Genome Nomenclature, Jackson
Lab, US http://www.informatics.jax.org/mgihome/nomen/
Rat Nomenclature Guidelines http://rgd.mcw.edu/nomen/nomen.shtml
Saccharomyces cerevisae
Nomenclature:
SGD Gene Naming Guidelines, Stanford University, US http://genome-www.stanford.edu/Saccharomyces/gene_guidelines.html
Zebrafish nomenclature Guidelines
http://zfin.org/zf_info/nomen.html
UniProt - Swiss-Prot Protein Knowledgebase, List of nomenclature related
references for proteins, 2007 http://www.expasy.ch/txt/nomlist.txt
Nomenclature of glycoproteins, glycopeptides
and peptidoglycans, Recommendations, IUPAC-IUB Joint Commission on Biochemical
Nomenclature (JCBN), 1985. http://www.chem.qmw.ac.uk/iupac/misc/glycp.html
Nomenclature and Symbols for Amino
Acids and Peptides, Recommendations, IUPAC and IUBMB and IUPAC-IUB Joint
Commission on Chemical Nomenclature 1983 http://www.chem.qmw.ac.uk/iupac/AminoAcid/
See also Enzyme Nomenclature, Sequences,
DNA & beyond: splice variants.
The authority charged with approving
and implementing human gene names and symbols is the Human Gene Nomenclature
Committee (HGNC) which is a sub- committee of HUGO (The Human Genome
Organisation). This was formed in the 1970’s (first reported by Shows et
al., 19791) when it was realised that a consistent, standardised gene nomenclature
would be vital to the collaborative effort
of maintaining databases of genes. Nomenclature committees were soon established
for both the human and mouse genes and guidelines (White et al., 19972
and Maltais LJ et al., 19973) published in conjunction with
the reports from the HGM (Human Genome Mapping) meetings. In a further
development, databases, initially the Genome Database (GDB) and the Mouse Genome
Database (MGD), also implemented "approved" gene nomenclature as part of
their curation system.
HGNC Gene Families/Grouping http://www.genenames.org/genefamily.html
Hot Topics: http://www.genenames.org/cgi-bin/hgnc_hot_topic.pl