Segregation, Assortment, and

Dominance Relationships
A. Genes and alleles
B. Random segregation
C. Independent assortment
D. Assortment vs. Linkage
E. Dominance relationships
 A. Genes and Alleles

Gene
Classical definition:
A unit of inheritance
A factor transmitted during reproduction and responsible
for the appearance of a given trait
Contemporary understanding:
A segment on a DNA molecule
Usually at a specific location (locus) on a chromosome
Characterized by its nucleotide sequence
 A. Genes and Alleles

Genes play three notable roles:

To encode the amino acid sequences of proteins
To encode the nucleotide sequences of tRNA or
rRNA
To regulate the expression of other genes
 A. Genes and Alleles

Alleles:
Variant forms of a gene found within a population
Alleles of a gene usually have small differences in
their nucleotide sequences
The differences can affect the trait for which the
gene is responsible
Most genes have more than one allele
 A. Genes and Alleles

Homozygous and heterozygous:

In a diploid species, each individual carries two
copies of each gene (with some exceptions)
The two copies are located on different members of
a homologous chromosome pair
If the two copies of the gene are identical alleles,
then the individual is homozygous for the gene
If the two copies are different alleles, then the
individual is heterozygous for the gene
 A. Genes and Alleles

Genotype:
The genetic makeup of an individual with reference
to one or more specific traits
A genotype is designated by using symbols to
represent the alleles of the gene
 A. Genes and Alleles
Example:
Consider a gene for plant height in the pea plant with
two alleles, D and d
Each individual pea plant will carry two copies of the
plant height gene, on a homologous chromosome
pair
An individual pea plant will be one of three possible
genotypes:
Homozygous DD
Homozygous dd
Heterozygous Dd
 A. Genes and Alleles
Dominant and recessive:
A dominant allele is expressed over a recessive allele in a
heterozygous individual
This means that a heterozygous individual and a
homozygous dominant individual have identical phenotypes
Often, a dominant allele encodes a functional protein, such
as an enzyme
The recessive allele is a mutation that no longer has the
information for the correct amino acid sequence; Therefore,
its protein product in nonfunctional
In the heterozygote, the dominant allele encodes sufficient
production of the protein to produce the dominant phenotype.
This is also called complete dominance
 A. Genes and Alleles

Phenotype:
The appearance or discernible characteristics of a
trait in an individual
Phenotypes can be determined by a combination of
genetic and environmental factors
 A. Genes and Alleles

Example:
In the pea plant height gene, the dominant allele D
encodes a hormone that promotes tall growth
The recessive allele d is a mutation that does not
produce functional hormone
If an individual pea plant has at least one good
copy of the D allele, then it makes enough
hormone to grow tall
Otherwise, the plant is dwarf in size
 A. Genes and Alleles

Example (continued):
Therefore, there are two possible phenotypes for
plant height in peas:
Genotype DD produces tall plants
Genotype Dd produces tall plants
Genotype dd produces dwarf plants
Note that D is completely dominant over d
There is no observable difference in phenotype
between DD (homozygous dominant) and Dd
(heterozygous) plants
 B. Random Segregation

Mendels law of random segregation:

Diploid germ-line cells of sexually reproducing
species contain two copies of almost every
chromosomal gene
The two copies are located on members of a
homologous chromosome pair
During meiosis, the two copies separate, so that a
gamete receives only one copy of each gene
 B. Random Segregation

Random segregation can be demonstrated with a

monohybrid cross experiment
Monohybrid cross:
A parental cross between two individuals that differ in the
genotype of one gene
The offspring of the parental generation is called the F1 (first
filial) generation
The F1 generation can be allowed to interbreed or self-fertilize
(inter se cross, or selfing) to produce the F2 (second filial)
generation
 B. Random Segregation
Example of a monohybrid cross:
P generation: Homozygous tall pea plants (pollen)
X
Homozygous dwarf pea plants (ovules)
F1 generation: All tall pea plants
F1 tall X F1 tall

F2 generation: About of the F2 plants will be tall

About of the F2 plants will be dwarf
 B. Random Segregation
Genotypic explanation of the monohybrid cross:
Parental generation:
Pollen from a DD plant X ovules from a dd plant
Pollen genotype: D
Ovule genotype: d
Therefore, in the F1 generation:
Genotype of all F1 plants: Dd
F1 pollen: D and d
F1 ovules: D and d
 B. Random Segregation
Genotypic explanation (continued):
When the F1 plants self-fertilize:

F1 pollen X F1 ovule F2 genotype F2 phenotype

D D x = DD
D d ( x )
or +
d D ( x ) = Dd DD+ Dd = Tall
d d x = dd = Dwarf
 B. Random Segregation
Random segregation can also be demonstrated
with a testcross
Testcross:
Cross heterozygous F1 individuals with homozygous
recessive

Pollen from Dd X Ovules from dd Testcross progeny

D All d x 1 = Dd Tall
d All d x 1 = dd Dwarf
 C. Independent Assortment
Mendels law of independent assortment
When the alleles of two different genes separate
during meiosis
They do so independently of one another
Unless the genes are located on the same
chromosome (linked)
 C. Independent Assortment
Independent assortment is demonstrated by a
dihybrid cross
Dihybrid cross:
A parental cross between two individuals that differ
in the genotype of two different genes
 C. Independent Assortment
Example: Consider genes for vestigial wing
shape and ebony body color in Drosophila
melanogaster
Vestigial wing shape gene:
vg+ allele: normal wild type wing shape; dominant
vg allele: vestigial wing; recessive
Ebony body color gene:
e+ allele: tan-colored wild type body; dominant
e allele: ebony body; recessive
 C. Independent Assortment
As usual with complete dominance, there are
three possible genotypes for wing shape, and
three for body color:
vg+ vg+ = homozygous wild type wing
vg+ vg = heterozygous wild type wing
vg vg = vestigial wing
e+ e+ = homozygous wild type body color
e+ e = heterozygous wild type body color
ee = ebony body color
 C. Independent Assortment

P: Homozygous wild type males X Vestigial ebony females

F1: All wild type phenotypes, males & females

F1 X F 1

F2: 9/16 wild type phenotypes

3/16 wild type wings, ebony body
3/16 vestigial wings, wild type body
1/16 vestigial ebony
 C. Independent Assortment
Genotypic explanation for the dihybrid cross
P generation:
vg+ vg+ e+ e+ males X vg vg e e females
F1 generation:
All heterozygous vg+ vg e+ e , males and females
F1 sperm F1 ova
vg+ e+ vg+ e+
vg+ e vg+ e
vg e+ vg e+
vg e vg e
 C. Independent Assortment
How many different ways can we make
wild type wing, wild type body color in the F2?
F1 sperm F1 ova
vg+ e+ vg+ e+
vg+ e vg+ e
vg e+ vg e+
vg e vg e
Answer: 9 different ways
 C. Independent Assortment
How many different ways can we make
wild type wing, ebony body color in the F2?
F1 sperm F1 ova
vg+ e+ vg+ e+
vg+ e vg+ e
vg e+ vg e+
vg e vg e
Answer: 3 different ways
 C. Independent Assortment
How many different ways can we make
vestigial wing, wild type body color in the F2?
F1 sperm F1 ova
vg+ e+ vg+ e+
vg+ e vg+ e
vg e+ vg e+
vg e vg e
Answer: 3 different ways
 C. Independent Assortment
How many different ways can we make
vestigial wing, ebony body color in the F2?
F1 sperm F1 ova
vg+ e+ vg+ e+
vg+ e vg+ e
vg e+ vg e+
vg e vg e
Answer: 1 way
 Summary of All Possible F2 genotypes
x = 1/16 vg+ vg+ e+ e+
( x ) + ( x ) = 2/16 vg+ vg e+ e+
9/16
( x ) + ( x ) = 2/16 vg+ vg+ e+ e
Wild Wing,
( x ) + ( x ) + ( x ) + ( x ) = 4/16 vg+ vg e+ e Wild Body
x = 1/16 vg+ vg+ e e 3/16
( x ) + ( x ) = 2/16 vg+ vg e e Wild Wing,
Ebony
x = 1/16 vg vg e+ e+ 3/16
( x ) + ( x ) = 2/16 vg vg e+ e Vestigial,
Wild Body
x = 1/16 vg vg e e 1/16
Vestigial,
Ebony
 C. Independent Assortment
Here is a shortcut for dihybrid cross ratios: combine
the monohybrid cross ratios!
F2 wing phenotypes: F2 body phenotypes:
wild type wings wild type body
vestigial wings ebony body

x = 9/16 wild wings, wild body
x = 3/16 wild wings, ebony body
x = 3/16 vestigial wings, wild body
x = 1/16 vestigial wings, ebony body
 C. Independent Assortment
The testcross can also be applied to
independent assortment:
vg+ vg e+ e X vg vg e e

vg+ vg e+ e (wild wing, wild body)
vg+ vg e e (wild wing, ebony body)
vg vg e+ e (vestigial wing, wild body)
vg vg e e (vestigial wing, ebony body)
 D. Assortment vs. Linkage
Independent assortment works because the two genes
are located on separate homologous chromosomes
pairs
Their alleles assort independently during meiosis
D. Assortment vs. Linkage
 D. Assortment vs. Linkage
If two genes are located on the same chromosome,
their alleles can recombine only when there is crossing
over during meiosis
The probability that crossover will occur is proportional
to the distance between the genes
Typically, there are fewer recombinant (crossover)
gametes than nonrecombinant gametes
D. Assortment vs. Linkage
 E. Dominance Relationships
Codominance
Two alleles are codominant if each encodes a
different but functional protein product
In the heterozygote, the presence of two different
functional proteins means that the phenotype of the
heterozygote is different from either homozygous
dominant or homozygous recessive
Example: M-N blood groups
 E. Dominance Relationships
Example of codiminance: M-N blood group gene
in humans
Two alleles, LM & LN
Each produces a functional blood cell antigen
(capable of causing an immunological reaction)
Three possible genotypes & phenotypes
LM LM: Produces group M blood
LM LN: Produces group MN blood
LN LN: Produces group N blood
 E. Dominance Relationships

Incomplete dominance
An incompletely dominant allele produces a
functional protein product
However, in the heterozygote, there is insufficient
protein production from the allele to produce the
same phenotype as homozygous dominant
Therefore, the phenotype of the heterozygote is
different from either homozygous dominant or
homozygous recessive
Example: snapdragon flower color
 E. Dominance Relationships

Example of incomplete dominance: snapdragon

flower color
Two alleles, R and r
R produces red pigment; r produces no pigment
Three possible genotypes & phenotypes
RR: Red flowers
Rr: Pink flowers (One copy of R produces less red
pigment than two copies of R)
rr: White flowers
 E. Dominance Relationships

Because each genotype has a unique

phenotype, the F2 phenotypic ratio in
codominance or incomplete dominance is 1:2:1