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Nomenclature,
Genes, proteins, species
Evolving terminology for emerging
technologies
Comments? Revisions? Questions?
Mary
Chitty, Library Director & Taxonomist MSLS mchitty@healthtech.com
Last revised
January 09, 2020
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 term index
Related glossaries
include Functional genomics, Model
& other organisms
Carbohydrate nomenclature
IUPAC-IUBMB Joint Commission on
Biochemical Nomenclature, Nomenclature of Carbohydrates, Recommendations,
http://www.sbcs.qmul.ac.uk/iupac/2carb/
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
Chemicals: InChI Chemical Identifier:
The IUPAC International Chemical Identifier (InChITM) is a non-proprietary
identifier for chemical substances that can be used in printed and electronic
data sources thus enabling easier linking of diverse data compilations.
https://iupac.org/who-we-are/divisions/division-details/inchi/
Clone nomenclature:
Standardized clone names, NCBI
https://www.ncbi.nlm.nih.gov/clone/content/faq/#clonenomenc
drug nomenclature,
clinical:
RxNorm
provides normalized names for clinical drugs and links its names to many of the
drug vocabularies commonly used in pharmacy management and drug interaction
software, including those of First Databank, Micromedex, MediSpan, Gold
Standard, and Multum. By providing links between these vocabularies, RxNorm can
mediate messages between systems not using the same software and vocabulary.
http://www.nlm.nih.gov/research/umls/rxnorm/
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
http://www.sbcs.qmul.ac.uk/iubmb/enzyme/
Links to individual enzyme documents,
includes citations for published versions.
Gene nomenclature - integrating
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).
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
For each known human gene we approve a gene name and symbol (short-form
abbreviation). All approved symbols are stored in the HGNC database.
Each symbol is unique and we ensure that each gene is only given one approved
gene symbol. … We have already approved almost 33,000 symbols; the vast
majority of these are for protein-coding genes, but also include symbols for
pseudogenes, non-coding RNAs, phenotypes and genomic features
HUGO Gene Nomenclature Committee About the HGNC
https://www.genenames.org/about/overview
The Human Gene Nomenclature Committee (HGNC)
is part of the Human Genome Organization
(HUGO), and has established official, unique nomenclature for human genes.
If a gene lacks official nomenclature, the research community is
encouraged to use the Nomenclature Committee web form to submit a proposed
gene symbol and name. Guidelines for
naming are provided.
(09/20/07)
SNP FAQ Archives
https://www.ncbi.nlm.nih.gov/books/NBK44416/
HUGO Gene
Nomenclature Committee http://www.genenames.org/
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
Human gene mutation nomenclature
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
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.
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
Flybase Drosophila
Nomenclature:
https://wiki.flybase.org/wiki/FlyBase:Nomenclature
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 Nomenclature Conventions,
http://seq.yeastgenome.org/help/community/nomenclature-conventions
Zebrafish nomenclature Guidelines
https://wiki.zfin.org/display/general/ZFIN+Zebrafish+Nomenclature+Conventions
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-
proof 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
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)
https://febs.onlinelibrary.wiley.com/doi/abs/10.1111/j.1432-1033.1986.tb09825.x
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.
Species
taxonomy browser NCBI, US browser
https://www.ncbi.nlm.nih.gov/Taxonomy/taxonomyhome.html/ has direct
links to some of the organisms commonly used in molecular research projects
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, Integrated Taxonomic Information System, 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
https://www.iop.vast.ac.vn/theor/conferences/smp/1st/kaminuma/SWISSPROT/mbd1.html#taxonomy
uBio: an
initiative within the science library community to join international
efforts to create and utilize a comprehensive and collaborative catalog of
known 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
http://www.ubio.org/index.php
Nomenclature resources
HUGO, Gene Nomenclature Committee http://www.genenames.org/
2008
Update http://www.genenames.org/sites/genenames.org/files/documents/PMID17984084.pdf
Gene Family index
https://www.genenames.org/cgi-bin/genefamilies/
INTERNATIONAL UNION OF BIOCHEMISTRY AND MOLECULAR BIOLOGY,
Recommendations on Biochemical & Organic Nomenclature, Symbols &
Terminology etc, prepared by G. P. Moss
http://www.sbcs.qmul.ac.uk/iubmb/
IUPAC and IUBMB, Biochemical Nomenclature Committees, 2013 http://www.chem.qmul.ac.uk/iupac/jcbn/index.html#5
Sequence Variant Nomenclature
http://varnomen.hgvs.org/
IUPAC
definitions are reprinted with the permission of the International Union of Pure
and Applied Chemistry. |