Genes
Each gene has both a unique name and a unique gene symbol that is usually shorter than the name and contains no spaces, allowing genotypes
to be described in an unambiguous and manageable way. Both are italicized in
print. In general, genes are named in one of three ways:
Genes may be named according to a
mutant phenotype of the gene (generally the phenotype of the first mutant allele
identified), e.g., white (w), Shaker (Sh), cubitus interruptus (ci). The name and symbol are capitalized
if the phenotype of the mutant allele for which the gene was named is dominant
to a wild-type allele. Be aware, however, that many nominally 'dominant genes'
have recessive alleles and many 'recessive genes' have dominant alleles.
Genes may be named according to a
category of phenotypic effect, such as suppressor, enhancer, Minute, lethal,
sterile, along with identifying information relevant to the class (the name
of the gene that is suppressed or enhanced, or the chromosomal location of Minutes,
lethals and steriles). For example: suppressor of forked (su(f)), Enhancer of Star (E(S)), Minute (1)15D (M(1)15D), lethal (3)85Ea (l(3)85Ea), male sterile (2)1 (ms(2)1).
When the product of a gene is known,
the gene is typically named according to the product encoded, with a chromosomal
location or series number if part of a multigene family. For example: -Tubulin
(3)67C (Tub67C), Superoxide dismutase (Sod), transfer RNA arginine (tRNA-Arg1). Superscripts identify individual
mutant alleles of a gene: wa, l(2)40Fg1, AntpLC. A + superscript indicates a wild-type allele
of the gene. A + in place of a gene symbol indicates that the chromosome
or the complete genotype, depending on the context, is wild type.
Aberrations
Chromosome aberrations are named according to the type of rearrangement, the
chromosome or chromosomes involved, and an identifying symbol. The basic types
of aberrations and their abbreviations are: deficiency (Df), duplication (Dp),
inversion (In), transposition (Tp), translocation (T), compound (C), ring (R),
levosynaptic element (LS) and dextrosynaptic element (DS). These are written
as: Type(Chromosome)Identifier. The identifier may or may not convey information
about the rearrangement. For example, Df(3R)by10 is the name of a deficiency
in the right arm of the third chromosome; in this case the identifier reflects
the inclusion of the blistery (by) gene within the deficiency
and the 10 distinguishes it from others in a series. Superscripts,
which define unique alleles, are not used with symbols of genes deleted by deficiencies
(they are used only when the gene is interrupted, rather than removed, by the
aberration). Df(3R)by10, Df(3R)by62, and Df(3R)by77 represent three unique deficiencies, but not unique alleles of by -
the gene is equally absent in all three aberrations. T(2;3)apXa refers to a translocation between chromosomes 2 and 3; here the translocation
is named for the mutant allele of the apterous gene that results from
one of the translocation breakpoints. Tp(1;3)O4 names a three-break
event that resulted in the insertion of a piece of chromosome 1 into chromosome
3. In this case the identifier, O4, is arbitrary, formed from the name
of the person who recovered the aberration and a series number.
Balancers are an important class
of aberration and one for which shorthand is commonly used. Lindsley
and Zimm define a set of core balancer symbols that are commonly used to represent a particular set of aberrations and markers.
The most popular balancers exist in a variety of marker
combinations, all with at least one dominant visible marker. There are three
different standard ways of representing balancer chromosomes:
- Balancer symbol
- A single symbol represents a unique
set of aberrations and markers
- e.g., TM3-Sb
- Balancer short genotype
- A core balancer symbol is combined
with aberration, transposon and allele symbols to describe a unique balancer
variant
- e.g., TM3, Sb[1]
- Balancer full genotype
- All aberration, transposon and
allele symbols that comprise the unique balancer variant are explicitly stated
- e.g., In(3LR)TM3, kniri-1 pp sep1 l(3)89Aa1 Sb1 Ubxbx-34e e1
Transposon insertions
Transposon nomenclature has four basic parts: source of transposon ends, included
genes, construct symbol, and insertion identifier. A transposon symbol is composed of ends{symbol}. A full transposon genotype adds the geneallele symbols of all included genes, with the form ends{genes=symbol}. The symbol for a specific insertion of a given transposon has the form ends{symbol}identifier.
Genotypes
A properly assembled genotype represents all mutant components of the stock
in the order 1;Y;2;3;4. Within a chromosome, aberrations precede gene
symbols. A comma and space separate aberrations from gene symbols and genes
are listed in the left-right order of the unrearranged chromosome. Gene symbols
are separated by a space. Homologues are separated by a solidus (/) and heterologues
are separated by a semicolon. Homozygous chromosomes are defined only once: cn bw implies cn bw/cn bw, and + implies +/+.
For example:
- cv1; sp1;
th1
- The stock is homozygous for three
recessive mutations, crossveinless 1 on chromosome 1, speck 1 on 2, and thread 1 on 3.
- In(1)dl-49+BM1, sc1 vOf
- This stock is homozygous for two
inversions on the X, delta-49 and Bar of Muller, and two
recessive mutations, scute 1 and vermillion Of.
- Df(3L)emc5, red1 /TM2, emc2 pp Ubx1 es
- The stock is heterozygous for
a deficiency on the left arm of chromosome 3 that includes the extra macrochaetae gene. The deficiency chromosome also carries a mutation in the red gene. Adults will express the recessive emc phenotype as well as
the dominant Ubx phenotype because the balancer carries a mutant
allele of emc in addition to the standard TM2 markers pink
peach, Ultrabithorax 1, and ebony sooty.
- T(2;3)CyOTM6, CyO: TM6/pr1 cn1 Adhufs; mwh1 ry506 e1
- A translocation is superimposed
on two balancer chromosomes, CyO and TM6. The normal sequence
homologues carry mutations in the 2nd chromosome genes purple, cinnabar and Alcohol dehydrogenase and the 3rd chromosome genes multiple
wing hair, rosy and ebony.
- y1 w1118 P{ry+t7.2=hsFLP}1; TM3, ryRK Sb1 Ser1/TM6B, ryCB Tb1 ca1
-
This stock carries mutant alleles
of yellow and white on the X as well as a P element
transposon that is marked with a functionally wild-type allele of the rosy gene. The transposon also carries an allele athe expresses the yeast FLP gene, but in most cases only visible markers are shown in transposon genotypes.
You will need to look
up the transposon in FlyBase to find the complete genotype of the construct.
The symbol for this specific construct is hsFLP, and the identifier
for this particular insertion of the hsFLP construct is 1.
Both balancers carry loss-of-function rosy mutations in addition
to other markers.
The rules for designating autosomal
homologues can't be strictly applied to sex chromosomes. Sometimes the genotypes
of both sexes are explicitly defined, using the form X/X x X/Y or X/X & X/Y.
More often a condensed notation is used and it is left to the user to apply
the rules of segregation and sex determination to identify the genotype of each
sex. For example, compound 1st, or attached-X, chromosomes are commonly used
to create balanced stocks of X-linked female sterile mutations. In a stock of
the female sterile mutation diminutive 1, the genotypes of males and
females are dm1/Y and C(1)DX/Y,
respectively, but the stock genotype is usually written as dm1/C(1)DX.
The latter seems to imply a stock of triplo-X flies, but triplo-X metafemales
have extremely low viability and survivors are sterile. The only interpretation
consistent with the biology is that females carry a maternally inherited compound
X, males carry a paternally inherited dm1 X, and both sexes
carry a wild-type Y chromosome inherited from the opposite sex.