GENE INTERACTIONS

GENETICS 1 – PRINCIPLES OF GENETICS

 GENE INTEARCTION: ALLELIC INTERACTIONS
ALLELIC INTERACTION – only one gene controls the trait
1. Complete dominance – heterozygotes are phenotypically identical to homozygous
dominants (completely masks the recessive alleles) (3:1)
2. Overdominance – heterozygotes exhibit a superior phenotype compared to either
homozygous parents (1:2:1). Ex. Heterozygous (w+w) in drosophila has higher
amount of fluorescent pigment than those white (ww) and wild (w+w+) homozygote
parents
3. Incomplete dominance – heterozygotes are phenotypically intermediate between
the two homozygous parents (neither allele is dominant over the other) (1:2:1). Ex. If
a red flower plant is crossed with a white flower plant, the result will be pink flower.
(F1)
4. Codominance – heterozygotes exhibit a mixture of the phenotypic characters of both
homozygote parents (1:2:1). Ex. When red coat is crossed with white coat, the result
will be composed of both red and white coat (F1).
 COMPLETE DOMINANCE OVERDOMINANCE

INCOMPLETE DOMINANCE CODOMINANCE

4. Lethal Genes
a) Dominant lethal – death of the affected individual (homozygous dominant or
heterozygous occurs after reproduction has taken place.
b) Recessive lethal – effects of recessive genes are sufficiently drastic to kill the
bearers of certain genotypes.
 GENE INTEARCTION: NON-ALLELIC INTERACTIONS
NON-ALLELIC INTERACTION – two genes are controlling one trait
1. Epistasis – an allele of a gene masks the effect of the allele of the other
gene.
a) Dominant epistasis – when dominant allele of one gene masks the effects of either
allele of the second gene
(Ex. A dominant to a; B dominant to b; A epistatic to B and bb) (12:3:1)
b.) Recessive epistasis – when recessive allele of one gene masks the effects of either
allele of the second gene.
(Ex. A is dominant to a, B is dominant to b; aa is epistatic to B and b)
EXAMPLE: COLOR OF SQUASH (12:3:1)
Dominant epistasis - Alleles of a locus that we will call B produce either yellow (B_) or green (bb)
fruit. However, in the presence of a dominant allele at a second locus that we call A, no pigment is
produced at all, and fruit are white. The dominant A allele, is therefore, epistatic to
both B and bb combinations.
EXAMPLE: LABRADOR COAT COLOR (9:3:4)
Recessive epistasis - The dominant allele, B is more efficient at pigment production than the
recessive b allele, thus B_ hair appears black, and bb hair appears brown. A second locus, which
we will call E, controls the deposition of melanin in the hairs. At least one functional E allele is
required to deposit any pigment, whether it is black or brown. Thus, all retrievers that are ee fail
to deposit any melanin (and so appear pale yellow-white), regardless of the genotype at
the B locus

ee (homozygous recessive) is the masking allele

 Molecular Explanation
Pigment production (B) and subsequent incorporation (E) into the hair shaft are controlled by
two separate genes. To be black, both genes must function. Mutations in B (b) lead to brown
pigment. Mutations in E (e) lead to no pigment in coat.
c.) Duplicate Genes (Duplicate dominant epistasis) – when a dominant allele at
either of two loci can mask the expression of recessive alleles at the two loci.
( A is dominant to a; B is dominant to b; A is epistatic to bb; B is epistatic to aa)
(EXAMPLE: Wheat color (15:1)
The biosynthesis of red pigment near the surface of wheat seeds involves many genes, two
of which we will label A and B. Normal, red coloration of the wheat seeds is maintained if
function of either of these genes is lost in a homozygous mutant (e.g., in
either aaB_ or A_bb).

When a dihybrid cross produces progeny in two

phenotypic classes in a 15:1 ratio, this can be
because the two loci’s gene products have the
same (redundant) functions within the same
biological pathway. (15:1)
d.) Complementary Genes – the functions of both genes (two set of alleles) work together to
produce a specific phenotype.
(EXAMPLE: FLOWER COLOR (9:7)
AA or Aa BB or Bb A - responsible for the enzyme
that synthesizes anthocyanin
B – responsible for the enzyme
that expresses the purple color
Homozygous recessive – absence
of these two enzymes produced
by complementary genes A and
B

Loss of function of either A or B,

or both, will have the same
result - no pigment production.
Thus A_bb, aaB_, and aabb will
all be colourless, while
only A_B_ genotypes will
produce pigmented product
2.) Novel Phenotypes – new phenotypes are produced from the interaction between dominant,
and between both homozygous recessives (having a unique new appearance of the offspring from
its parents) (9:3:3:1)
The crosses of Bateson and Punnett
 VARIATIONS OF MENDELIAN INHERITANCE
GENE INTERACTION INHERITANCE PATTERN A_/B_ A_/bb aa/B_ aabb ratio
Additive / Novel Each genotype results in a unique 9 3 3 1 9:3:3:1
Phenotype phenotype
Complementary At least one dominant allele from 9 3 3 1 9:7
Genes each of two
genes needed for phenotype
Recessive epistasis Homozygous recessive genotype at 9 3 3 1 9:3:4
one locus masks expression at
second locus
Dominant epistasis Dominant allele at one locus masks 9 3 3 1 12:3:1
expression at second locus
Duplicate Genes One dominant allele from either of 9 3 3 1 15:1
two genes needed for phenotype
 Environmental Effects on Gene
Expression
The phenotype of an organism is the product of interaction of its genes and its environment.
The genotypes provide the messages and direction for phenotypic growth and behavior, and the
environmental factors, such as food, suitable temperature, and light must be supplied so that
the organism may develop and continuously exist.
 Environmental Effects on Gene Expression
TERMS AND DEFINITIONS
❑ Penetrance: Genotype does not necessarily define phenotype. The proportion of individuals with a given
genotype express the phenotype determines penetrance.
❖100% penetrance = all individuals show phenotype.
❖50% penetrance = half the individuals show phenotype.
– Example: retinoblastoma: only 75% individuals affected.

❑ Expressivity: the degree or intensity with which a particular genotype is expressed in a phenotype in a given
individual.
– Retinoblastoma: some have both eyes affected, some only one.
 Environmental Effects on Gene Expression
❑ Modifying environment: The environment may influence the effect of a genotype on the
phenotype = PHENOCOPY (environmental mimic of gene action)
– E.G.: Siamese cats: temperature dependent color of coat. Color shows up only in
extremities, where the temp is lower (enzyme for pigment formation is active only at lower
temp.)
❑ Pleiotropy – when a gene has multiple phenotypic effects
- E.G. coat color in mice = the gene that causes yellowing of the coat also affects the viability
(ability to survive) of the mice
 Environmental Effects on Gene Expression
❑ External Environment
1. Temperature – the rate of chemical reaction is connected with temperature
E.G. Siamese Cat
Why Siamese cats have darker
coloration around their body extremities
such as the nose, feet, and tail, and not
around their chest area?
❑ Light - energy provided by light and light itself
are essential for the growth and development
of plants and animals
Ex.) a. Seedlings grown in the dark do not survive
long
b. Sun red in corn – red when exposed to
sunlight and green when in shaded areas

❑ Nutrition – food provides energy for carrying

out necessary processes and materials that
must be incorporated into necessary structures.
Depending upon its genotype, simple dietary
changes can lead to different phenotypes
 ❑ Internal Environment

❖ Age - As an individual grows older there are certain phenotypic changes that occur
which allow further genotypic effects to be expressed.
❖ Sex - Sexual phenotypic differences are evident in the reproductive structures and
specialized behavior of each sex.
Example:
✓ In humans, breast development is normally limited to females, beard growth is
normally limited to males
✓ In human disease, females have more risk on having breast cancer and males having
prostate cancer
 Probability and statistical testing: Chi- Square test and Level of
Significance
CHI-SQUARE TEST - a statistical measure that are used to determine whether the difference between an observed
and expected frequency distribution is statistically significant.
❑ A chi-squared test can be applied to data generated from a dihybrid cross to determine if there is a statistical
correlation between observed and expected frequencies (knowing if the data gathered fit any of the Mendelian ratios)

A chi-squared test can be completed by following five simple steps:

•Identify hypotheses (null versus alternative)
•Construct a table of frequencies (observed versus expected)
•Apply the chi-squared formula
•Determine the degree of freedom (df) (n-1); where n is the number of classes
•Identify the p value (should be <0.05) -
CHI-SQUARE FORMULA
Based on these results the statistical value calculated by the chi-squared test is:
𝝌2 = (0.42 + 2.53 + 0.99 + 0.84) = 4.76

Step 4: Determine the degree of freedom (df)

In order to determine if the chi-squared value is statistically significant a degree of freedom
must first be identified
•The degree of freedom is a mathematical restriction that designates what range of values fall
within each significance level
For all dihybrid crosses, the degree of freedom should be: (number of phenotypes – 1)
•In this particular instance, the degree of freedom is 3
 Step 5: Identify the p value
The final step is to apply the value generated to a chi-squared distribution table to determine if
results are statistically significant
•A value is considered significant if there is less than a 5% probability (p < 0.05) the results are
attributable to chance

When df = 3, a value of greater than 7.815 is required for results to be considered statistically significant (p < 0.05)
•A value of 4.76 lies between p values of 0.25 and 0.1, meaning there is a 10 – 25% probability results are caused by
chance
•Hence, the difference between observed and expected frequencies are not statistically significant

As results are not statistically significant, the alternative hypothesis is rejected and the null hypothesis accepted:
•Null hypothesis (H0): There is no significant difference between observed and expected frequencies
(genes are unlinked)
 Sample test
In sweet pea plants, the trait for purple flowers (P) is dominant to the trait for red flowers (p).
Similarly, the trait for long pollen (L) is dominant to the trait for round pollen (l).
Two heterozygotes are crossed, yielding the following frequencies for the F1 generation:
296 purple, long plants ; 19 purple, round plants ; 27 red, long plants ; 85 red, round plants

Activity: Use the chi-squared test to determine if these results are due to independent
assortment.