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6 Genetic Nomenclature

6.1 Chromosomal Genes

The genetic nomenclature for chromosomal genes of the yeast S. cerevisiae is now more-or-less universally accepted, as illustrated in Table 6.1, using ARG2 as an example. Whenever possible, each gene, allele, or locus is designated by three italicized letters, e.g., ARG, which is usually a describer, followed by a number, e.g., ARG2. Unlike most other systems of genetic nomenclature, dominant alleles are denoted by using uppercase italics for all letters of the gene symbol, e.g., ARG2, whereas lowercase letters denote the recessive allele, e.g., the auxotrophic marker arg2. Wild-type genes are designated with a superscript "plus" (sup6+ or ARG2+). Alleles are designated by a number separated from the locus number by a hyphen, e.g., arg2-9. The symbol D can denote complete or partial deletions, e.g., arg2-D1. Insertion of genes follow the bacterial nomenclature by using the symbol :: . For example, arg2::LEU2 denotes the insertion of the LEU2 gene at the ARG2 locus, in which LEU2 is dominant (and functional), and arg2 is recessive (and defective).

Table 6.1. Genetic nomenclature, using ARG2 as an example

Gene
symbol
Definition

ARG+All wild-type alleles controlling arginine requirement
ARG2A locus or dominant allele
arg2A locus or recessive allele confering an arginine requirement
arg2-Any arg2 allele confering an arginine requirement
ARG2+The wild-type allele
arg2-9A specific allele or mutation
Arg+A strain not requiring arginine
Arg-A strain requiring arginine
Arg2pThe protein encoded by ARG2
Arg2 proteinThe protein encoded by ARG2
ARG2 mRNAThe mRNA transcribed from ARG2
arg2-D1A specific complete or partial deletion of ARG2
ARG2::LEU2Insertion of the functional LEU2 gene at the ARG2 locus, and ARG2 remains functional and dominant
arg2::LEU2Insertion of the functional LEU2 gene at the ARG2 locus, and arg2 is or became nonfunctional
arg2-10::LEU2Insertion of the functional LEU2 gene at the ARG2 locus, and the specified arg2-10 allele which is nonfunctional
cyc1-arg2A fusion between the CYC1 and ARG2 genes, where both are nonfunctional
PCYC1-ARG2A fusion between the CYC1 promoter and ARG2, where the ARG2 gene is functional

Phenotypes are sometimes denoted by cognate symbols in roman type and by the superscripts + and -. For example, the independence and requirement for arginine can be denoted by Arg+ and Arg-, respectively. Proteins encoded by ARG2, for example, can be denoted Arg2p, or simply Arg2 protein. However, gene symbols are generally used as adjectives for other nouns, for example, ARG2 mRNA, ARG2 strains, etc.

Although most alleles can be unambiguously assigned as dominant or recessive by examining the phenotype of the heterozygous diploid crosses, dominant and recessive traits are defined only with pairs, and a single allele can be both dominant and recessive. For example, because the alleles CYC1+, cyc1-717 and cyc1-D1 produce, respectively, 100%, 5% and 0% of the gene product, the cyc1-717 allele can be considered recessive in the cyc1-717/CYC1+ cross and dominant in the CYC1-717/cyc1-D1 cross. Thus, sometimes it is less confusing to denote all mutant alleles in lower case letters, especially when considering a series of mutations having a range of activities.

Although superscript letters should be avoided, it is sometimes expedient to distinguish genes conferring resistance and sensitivity by superscript R and S, respectively. For example, the genes controlling resistance to canavanine sulphate (can1) and copper sulphate (CUP1) and their sensitive alleles could be denoted, respectively, as canR1, CUPR1, CANS1, and cupS1.

Wild-type and mutant alleles of the mating-type locus and related loci do not follow the standard rules. The two wild-type alleles of the mating-type locus are designated MATa and MATa. The wild-type homothallic alleles at the HMR and HML loci are denoted, HMRa, HMRa, HMLa and HMLa. The mating phenotypes of MATa and MATa cells are denoted simply a and a, respectively. The two letters HO denotes the gene encoding the endonuclease required for homothallic switching.

Dominant and recessive suppressors should be denoted, respectively, by three uppercase or three lowercase letters, followed by a locus designation, e.g., SUP4, SUF1, sup35, suf11, etc. In some instances UAA ochre suppressors and UAG amber suppressors are further designated, respectively, o and a following the locus. For example, SUP4-o refers to suppressors of the SUP4 locus that insert tyrosine residues at UAA sites; SUP4-a refers to suppressors of the same SUP4 locus that insert tyrosine residues at UAG sites. The corresponding wild-type locus that encodes the normal tyrosine tRNA and that lacks suppressor activity can be referred to as sup4+. Intragenic mutations that inactivate suppressors can denoted, for example, sup4- or sup4-o-1. Frameshift suppressors are denoted as suf (or SUF), whereas metabolic suppressors are denoted with a variety of specialized symbols, such as ssn (suppressor of snf1), srn (suppressor of rna1-1), and suh (suppressor of his2-1)

Capital letters are also used to designate certain DNA segments whose locations have been determined by a combination of recombinant DNA techniques and classical mapping procedures, e.g., RDN1, the segment encoding ribosomal RNA.

The general form YCRXXw is now used to designate genes uncovered by systematically sequencing the yeast genome, where Y designates yeast; C (or A, B, etc.) designates the chromosome III (or I, II, etc.); R (or L) designates the right (or left) arm of the chromosome; XX designates the relative position of the start of the open-reading frame from the centromere; and w (or c) designates the Watson (or Crick) strand. For example, YCR5c denotes CIT2, a previously known but unmapped gene situated on the right arm of chromosome III, fifth open reading-frame from the centromere on the Crick strand.

E. coli genes inserted into yeast are usually denoted by the prokaryotic nomenclature, e. g., lacZ.

A list of gene symbols are tabulated in the book edited by Wheals et al. (1995), whereas a current list can be found in the Internet file
ftp://genome-ftp.stanford.edu/pub/yeast/gene_registry/registry.genenames.tab

6.2 Mitochondrial Genes

Special consideration should be made of the nomenclature describing mutations of mitochondrial components and function that are determined by both nuclear and mitochondrial DNA genes. The growth on media containing nonfermentable substrates (Nfs) as the sole energy and carbon source (such as glycerol or ethanol) is the most convenient operational procedure for testing mitochondrial function. Lack of growth on nonfermentable media (Nfs- mutants), as well as other mitochondrial alterations, can be due to either nuclear or mitochondrial mutations as outlined in Table 3. Nfs- nuclear mutations are generally denote by the symbol pet; however, more specific designations have been used instead of pet when the gene products were known, such as cox4, hem1, etc.

The complexity of nomenclatures for mitochondrial DNA genes, outlined in Table 6.2, is due in part to complexity of the system, polymorphic differences of mitochondrial DNA, complementation between exon and intron mutations, the presence of intron-encoded maturases, diversed phenotypes of mutations within the same gene, and the lack of agreement between various workers. Unfortunately, the nomenclature for most mitochondrial mutations do not follow the rules outline for nuclear mutations. Furthermore, confusion can occur between phenotypic designations, mutant isolation number, allelic designations, loci, and cistrons (complementation groups).

Table 6.2 Mitochondrial genes and mutations with examples

Wild-
type
Mutation
(with examples)
Mutant phenotype or gene product

Nuclear genes
PET+pet-Nfs-
    pet1    Unknown function
    cox4    Cytochrome c oxidase subunit IV
    hem1    d-Aminolevulinate synthase
    cyc3    Cytochrome c heme lyase
Mitochondrial DNA
Gross aberrations
r+    r-Nfs-
    ror- mutants lacking mitochondrial DNA
Single-site mutations
r+    mit-Nfs-, but capable of mitochondrial translation
[COX1]        [cox1]        Cytochrome c oxidase subunit I
[COX2]        [cox2]        Cytochrome c oxidase subunit II
[COX3]        [cox3]        Cytochrome c oxidase subunit III
[COB1]        [cob1] or [box]        Cytochrome b
[ATP6]        [atp6]        ATPase subunit 6
[ATP8]        [atp8]        ATPase subunit 8
[ATP9]        [atp9] or [pho2]        ATPase subunit 9
[VAR1]        Mitochondrial ribosomal subunit
r+syn-Nfs-, deficient in mitochondrial translation
    tRNAAsp or M7-37    Mitochondrial tRNAAsp (CUG)
ant RResistant to inhibitors
[ery S]    ery R or [rib1]    Resistant to erythromycin, 21S rRNA
[cap S]    cap R or [rib3]    Resistant to chloramphenical, 21S rRNA
[par S]    par R or [par1]    Resistant to paromomycin, 16S rRNA
[oli S]    oli R or [oli1]    Resistant to oligomycin, ATPase subunit 9

Nfs- denotes lack of growth on nonfermentable substrates.

6.3 Non-Mendelian Determinants

In addition to the non-Mendelian determinants described in Figure 5.1 (2 mm plasmid, mitochondrial genes, and RNA viruses) and discussed in Section 5 (The Yeast Genome), yeast contains elements that have been proposed to be prions, i.e., infectious proteins, on the bases of their genetic properties. The nomenclature of these putative prions, representing alternative protein states, are presented in Table 6.4.

 

Table 6.4. Nomenclature of presumptive prions exhibiting non-Mendelian inhertance

Prion statePutative
gene
PositiveNegativeproductPhenotype of negative state

y+y -Sup35pDecreased efficiency of certain suppression
x +x -Sup35pDecreased efficiency of certain suppression
[URE3][ure3-]Ure2pDeficiency in ureidosuccinate utilization

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