Nomenclature for Genes Identified by Mutation
These rules should be followed when naming a new mutant
isolated in your laboratory.
Specific Guidelines: The following
standards of nomenclature have been adopted by the Arabidopsis community
and should be followed in publications and presentations.
- Mutant gene symbols should have three
letters (underlined or italics) written in lower case letters (abc).
- Some gene symbols chosen before these
guidelines were established may have two letters.
- The wild-type allele should be
written (underlined or italics) in capital letters (ABC).
- The full descriptive names of the
wild-type (ALPHABETICA) and mutant (alphabetica) alleles should
be written in the same manner.
- Protein products of genes should be
written in capital letters without italics (ABC).
- Phenotypes may be designated by the
gene symbol (no italics) with the first letter capitalized. Thus Abc+
describes the wild type; Abc- refers to the mutant. The (+/-) should be a
superscript if possible.
- Different genes with the same symbol
are distinguished by different numbers (abc1 and abc2).
- Different alleles of the same gene
are distinguished with a number following a hyphen (abc4-1 and
abc4-2). When only a single allele is known, the hyphen is not needed.
Thus abc3 = abc3-1 if only a single allele is known.
- The same rules of nomenclature apply
to both dominant and recessive mutations. The letter "D" may be added
to the end of an allele number for the purpose of outlining crosses if that
allele exhibits simple dominance relative to wild type. Thus abc5-2D
indicates that allele #2 is dominant to wild type.
Additional Details: Much greater
variation has been observed in the nomenclature of revertants, suppressors,
double mutants, alleles of known mutants isolated in different laboratories,
T-DNA and transposon insertions, reporter fusions, and natural variants
identified in different ecotypes.
- Designation of allele numbers has
generally been resolved by the groups involved in coordination with the stock
centers.
- Suppressors are typically given a
different gene symbol although in some cases the original symbol may be
reversed (e.g ted suppressors of det mutants).
- Intragenic revertants may be
designated by adding the letter "R" to the allele number. Thus abc1-3R
refers to the heritable revertant of the abc1-3 mutant allele.
- Many journals have their own
guidelines for designating multiple mutants. The most direct way to write the
double mutant produced by crossing abc1 with def2 is "abc1
def2 double mutant".
- Information on molecular markers
associated with insertional mutants should be excluded from the gene symbol.
- When dealing with genes identified
from natural variants in different ecotypes, the Columbia ecotype should be
considered wild type except when it contains the recessive allele. This choice
of Columbia as the standard ecotype is consistent with the genome project.
- In some cases it may be appropriate
to use letters to designate the ecotype in the gene symbol. For example,
FLC-col has been used to denote the FLC allele in ecotype Columbia.
Selecting a Mutant Gene Symbol: The
following procedures should be followed when selecting a gene symbol for natural
monogenic variants and all mutants identified following irradiation, chemical
mutagenesis, and insertional mutagenesis.
- The first step is to determine
whether similar mutants have been previously described. If this is the case,
it may be appropriate to retain a standard descriptive name for the phenotype
(e.g. eceriferum) and simply change the locus number. Alternative names
are least acceptable when the phenotype is narrowly defined, as with the
brevipedicellus, leafy cotyledon, transparent testa, and
glabrous classes. Synonyms for such mutants are unnecessary and often
confusing to the community. However, alternative names should be considered
acceptable and in some cases preferable when the phenotype is more broadly
defined, as with dwarfs, male steriles, embryo defectives, and disorganized
shoot and root phenotypes, or when the specific cellular defect responsible
for the mutant phenotype is determined. Within these limits, investigators
should be free to choose descriptive names that reflect their perspective on
the mutant phenotypes and proposed gene functions.
- When a new gene symbol is warranted,
the updated list of existing gene symbols must be consulted before publication
to make certain that the desired symbol is available. Please check the current
list at:
TAIR Homepage. The present curator is: David Meinke (Department of
Botany, Oklahoma State University, Stillwater, OK 74078 USA; Phone
1-405-744-6549; Fax 1-405-744-7074; e-mail
meinke@okstate.edu).
Requirements for Mutant Analysis: The
basic requirements for genetic analysis should be to:
- Establish monogenic inheritance by
segregation analysis.
- Determine dominance relative to wild
type.
- Perform allelism tests with related
mutants.
- Map the location of the gene.
- Complete a detailed characterization
of the phenotype.
Checklist for Publication: Community
standards for research publications dealing with Arabidopsis mutants are
needed to identify potential conflicts in gene nomenclature. Authors are
requested to meet the following standards for publication:
- Choose mutant gene symbols that do
not conflict with existing symbols.
- Use the accepted gene symbol for a
locus known by multiple names.
- Refer to synonyms for a given mutant
in the text.
- Characterize inheritance patterns and
provide thorough descriptions of mutant phenotypes.
- Determine the number of genes
represented in a mutant collection.
- Assign each mutant to a linkage group
and preferably to a chromosomal region.
- Perform allelism tests with related
mutants that map to the same chromosomal region.
- Make seeds of published mutants
available to other investigators for allelism tests.
- Submit information to relevant
databases.
For any corrections or additions, please contact
David Meinke
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