1

Genetics
Mendel and the Gene Idea
2
Heredity
What genetic principles account for the transmission of
traits from parents to offspring?
One possible explanation of heredity is a blending
hypothesis - The idea that genetic material contributed by
two parents mixes in a manner analogous to the way blue
and yellow paints blend to make green
An alternative to the blending model is the particulate
hypothesis of inheritance: the gene idea - Parents pass on
discrete heritable units, genes


3
Gregor Mendel
Fig. 2.2
Gregor Mendels
monastery garden.
Documented a particulate mechanism of inheritance
through his experiments with garden peas
4


Mendelian Genetics
Gregor Johann Mendel (1822-1884)

Augustinian monk, Czech Republic

Foundation of modern genetics

Studied segregation of traits in the garden pea (Pisum
sativum) beginning in 1854

Published his theory of inheritance in 1865.
Experiments in Plant Hybridization

Mendel was rediscovered in 1902

Ideas of inheritance in Mendels time were vague. One
general idea was that traits from parents came together
and blended in offspring. Thus, inherited information
was predicted to change in the offspring, an idea that
Mendel showed was wrong. Characters, or what we
now call alleles, were inherited unchanged. This
observation and the pattern of inheritance of these
characters gave us the first definition of a gene


5
Themes of Mendels work
Variation is widespread in nature
Observable variation is essential for following
genes
Variation is inherited according to genetic laws
and not solely by chance
Mendels laws apply to all sexually reproducing
organisms
6
Mendels Experimental, Quantitative Approach
Mendel used the scientific approach to identify two laws
of inheritance
Mendel discovered the basic principles of heredity by
breeding garden peas in carefully planned experiments
Mendel chose to work with the garden pea (Pisum
sativum)
Because they are available in many varieties, easy to
grow, easy to get large numbers
Because he could strictly control which plants mated
with which
7
Crossing Pea Plants
1
5
4
3
2
Removed stamens
from purple flower
Transferred sperm-
bearing pollen from
stamens of white
flower to egg-
bearing carpel of
purple flower
Parental
generation
(P)
Pollinated carpel
matured into pod
Carpel
(female)
Stamens
(male)
Planted seeds
from pod
Examined
offspring:
all purple
flowers
First
generation
offspring
(F
1
)
8
Mendels experimental design
Statistical analyses:
Worked with large numbers of plants
counted all offspring
made predictions and tested them
Excellent experimentalist
controlled growth conditions
focused on traits that were easy to score
chose to track only those characters that varied
in an either-or manner


9
Mendels Studied Discrete Traits
10
Genetic Vocabulary
Character: a heritable feature, such as flower color
Trait: a variant of a character, such as purple or
white flowers
Each trait carries two copies of a unit of
inheritance, one inherited from the mother and the
other from the father
Alternative forms of traits are called alleles
11
Dominant
Recessive
Antagonistic traits
12
Mendels experimental design
Mendel also made sure that he started his experiments with
varieties that were true-breeding

X
X
X
X
X
X
13
Genetic Vocabulary
Phenotype observable characteristic of an
organism
Genotype pair of alleles present in and individual
Homozygous two alleles of trait are the same
(YY or yy)
Heterozygous two alleles of trait are different
(Yy)
Capitalized traits = dominant phenotypes
Lowercase traits= recessive phenotypes

14
Genetic Vocabulary

Generations:
P = parental generation
F1 = 1st filial generation, progeny of the P generation
F2 = 2nd filial generation, progeny of the F1 generation
(F3 and so on)
Crosses:
Monohybrid cross = cross of two different true-breeding
strains (homozygotes) that differ in a single trait.
Dihybrid cross = cross of two different true-breeding
strains (homozygotes) that differ in two traits.

15
Phenotype vs Genotype
Figure 14.6
3
1 1
2
1
Phenotype
Purple
Purple
Purple
White
Genotype
PP
(homozygous)
Pp
(heterozygous)
Pp
(heterozygous)
pp
(homozygous)
Ratio 3:1 Ratio 1:2:1
16
Dominant & recessive alleles (Fig. 10.7):







Phenotype vs Genotype
17
Mendels Experimental Design
In a typical breeding experiment Mendel mated two
contrasting, true-breeding varieties, a process
called hybridization
The true-breeding parents are called the P
generation
The hybrid offspring of the P generation are called
the F1 generation
When F1 individuals self-pollinate the F2
generation is produced



18
Mendels Observations
When Mendel crossed contrasting, true-breeding white and purple flowered pea
plants all of the offspring were purple
When Mendel crossed the F1 plants, many of the plants had purple flowers, but
some had white flowers
A ratio of about three to one, purple to white flowers, in the F2 generation
P Generation

(true-breeding
parents) Purple
flowers
White
flowers

F
1
Generation
(hybrids)
All plants had
purple flowers
F
2
Generation

EXPERIMENT True-breeding purple-flowered pea plants and
white-flowered pea plants were crossed (symbolized by ). The
resulting F
1
hybrids were allowed to self-pollinate or were cross-
pollinated with other F
1
hybrids. Flower color was then observed
in the F
2
generation.
RESULTS Both purple-flowered plants and white-
flowered plants appeared in the F
2
generation. In Mendels
experiment, 705 plants had purple flowers, and 224 had white
flowers, a ratio of about 3 purple : 1 white.
19
Mendels Rationale

In the F1 plants, only the purple trait was affecting
flower color in these hybrids
Purple flower color was dominant, and white flower
color was recessive
Mendel developed a hypothesis to explain the 3:1
inheritance pattern that he observed among the F2
offspring
There are four related concepts that are integral to
this hypothesis

20
Heredity Concepts
1. Alternative versions of genes account for variations in inherited
characters, which are now called alleles






2. For each character an organism inherits two alleles, one from each
parent, A genetic locus is actually represented twice
3. If the two alleles at a locus differ, the dominant allele determines the
organisms appearance
4. The law of segregation - the two alleles for a heritable character
separate (segregate) during gamete formation and end up in different
gametes


Allele for purple flowers
Locus for flower-color gene
Homologous
pair of
chromosomes
Allele for white flowers
21
Law of Segregation
Mechanism of gene transmission
Fertilization:
alleles unite
Gametogenesis:
alleles segregate
23
Parental P
0
cross
F
1
cross
P P
p
p
P p
P
p
Determine the genotype and phenotype
Mendelian Genetics
Classical Punett's Square is a way to determine ways traits
can segregate

24
Parental P
0
cross
F
1
cross
P P
p Pp Pp
p Pp Pp
P p
P
p
Determine the genotype and phenotype
Mendelian Genetics
Classical Punett's Square is a way to determine ways traits
can segregate

25
Parental P
0
cross
F
1
cross
Determine the genotype and phenotype
Mendelian Genetics
Classical Punett's Square is a way to determine ways traits can
segregate

P P
p Pp Pp
p Pp Pp
P p
P PP Pp
p Pp pp
26
Mendels Law Of Segregation, Probability And The
Punnett Square
P Generation
F
1
Generation
F
2
Generation
P
p
P
p
P p
P
p
Pp PP
pp Pp
Appearance:
Genetic makeup:
Purple flowers
PP
White flowers
pp
Purple flowers
Pp
Appearance:
Genetic makeup:
Gametes:
Gametes:
F
1
sperm
F
1
eggs
1
/
2

1
/
2


Each true-breeding plant of the
parental generation has identical
alleles, PP or pp.

Gametes (circles) each contain only
one allele for the flower-color gene.
In this case, every gamete produced
by one parent has the same allele.
Union of the parental gametes
produces F
1
hybrids having a Pp
combination. Because the purple-
flower allele is dominant, all
these hybrids have purple flowers.

When the hybrid plants produce
gametes, the two alleles segregate,
half the gametes receiving the P
allele and the other half the p allele.
3
: 1
Random combination of the gametes
results in the 3:1 ratio that Mendel
observed in the F
2
generation.
This box, a Punnett square, shows
all possible combinations of alleles
in offspring that result from an
F
1
F
1
(Pp Pp) cross. Each square
represents an equally probable product
of fertilization. For example, the bottom
left box shows the genetic combination
resulting from a p egg fertilized by
a P sperm.
27
Purple
(Pp)
Purple
(PP)
P p p p
P
P
P
p
F
1
generation
All purple
White
(pp)
Purple
(Pp)
Pp Pp PP
Gametes
F
2
generation
purple, white
Gametes
Gametes
Gametes
Pp
Pp Pp
Pp
pp
Mendels Monohybrid Cross
28
Smooth and wrinkled
parental seed strains
crossed.
Punnett square

F1 genotypes: 4/4 Ss

F1 phenotypes: 4/4
smooth


29
Mendel Observed The Same Pattern In Characters
30
The Testcross
In pea plants with purple flowers the genotype is
not immediately obvious
A testcross
Allows us to determine the genotype of an
organism with the dominant phenotype, but
unknown genotype
Crosses an individual with the dominant
phenotype with an individual that is homozygous
recessive for a trait

31
Test Cross
To determine whether an individual with a dominant phenotype is
homozygous for the dominant allele or heterozygous, Mendel crossed
the individual in question with an individual that had the recessive
phenotype:
PP
P P
pp
p
p
Recessive
phenotype
Dominant
Phenotype
Gametes
Gametes
Alternative 1 Plant with
dominant phenotype is
homozygous
?
Pp
P p
p
p
pp
Recessive
phenotype
?
Alternative 2 Plant with
dominant phenotype is
heterozygous
Dominant
Phenotype
Gametes
Gametes
32
Test Cross
To determine whether an individual with a dominant phenotype is
homozygous for the dominant allele or heterozygous, Mendel crossed
the individual in question with an individual that had the recessive
phenotype:
PP
If all offspring are purple;
unknown plant is
homozygous.
P P
pp
p
p
Pp
Pp Pp
Pp
Recessive
phenotype
Dominant
Phenotype
Gametes
Gametes
Alternative 1 Plant with
dominant phenotype is
homozygous
?
Pp
If half of offspring are
white; unknown plant
is heterozygous.
P p
p
p
pp
pp
pp Pp
Pp
Recessive
phenotype
?
Alternative 2 Plant with
dominant phenotype is
heterozygous
Dominant
Phenotype
Gametes
Gametes
33
The Testcross


Dominant phenotype,
unknown genotype:
PP or Pp?
Recessive phenotype,
known genotype:
pp
If PP,
then all offspring
purple:
If Pp,
then
1

2
offspring purple
and
1

2
offspring white:
p p
P
P
Pp Pp
Pp Pp
pp pp
Pp Pp
P
p
p p
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either homozygous for
the dominant allele or heterozygous. To determine the organisms
genotype, geneticists can perform a testcross.

TECHNIQUE In a testcross, the individual with the
unknown genotype is crossed with a homozygous individual
expressing the recessive trait (white flowers in this example).
By observing the phenotypes of the offspring resulting from this
cross, we can deduce the genotype of the purple-flowered
parent.

RESULTS
34
The Law of Independent Assortment
Mendel derived the law of segregation by following a single trait

2 alleles at a single gene locus segregate when the gametes are
formed

The F1 offspring produced in this cross were monohybrids,
heterozygous for one character

Mendel identified his second law of inheritance by following two
characters at the same time

Mendel was interested in determining whether alleles at 2 different
gene loci segregate dependently or independently

Crossing two, true-breeding parents differing in two characters
produces dihybrids in the F1 generation, heterozygous for both
characters

35
Dihybrid Cross
With his monohybrid crosses, Mendel determined
that the 2 alleles at a single gene locus segregate
when the gametes are formed.
With his dihybrid crosses, Mendel was interested in
determining whether alleles at 2 different gene loci
segregate dependently or independently.
36
Dihybrid Cross
For example, in pea plants seed shape is
controlled by one gene locus where round (R) is
dominant to wrinkled (r) while seed color is
controlled by a different gene locus where yellow
(Y) is dominant to green (y).
Mendel crossed 2 pure-breeding plants: one with
round yellow seeds and the other with green
wrinkled seeds.
37
For example, in pea plants seed shape is
controlled by one gene locus where round (R) is
dominant to wrinkled (r) while seed color is
controlled by a different gene locus where yellow
(Y) is dominant to green (y).
Mendel crossed 2 pure-breeding plants: one with
round yellow seeds and the other with green
wrinkled seeds.
Dihybrid Cross
38
Dependent Segregation
If dependent segregation (assortment) occurs:
Alleles at the 2 gene loci segregate together, and are
transmitted as a unit.
Therefore, each plant would only produce gametes with the
same combinations of alleles present in the gametes inherited
from its parents:

Parents
Parental Gametes
F
1
Offspring
R
Y
F
1
Offsprings Gametes
R R
Y Y
r r
y y
r
y
R r
Y y
R
Y
r
y
What is the expected phenotypic ratio for the F
2
?
39
R R
Y Y
R r
Y y
R r
Y y
r r
y y
R
Y
R
Y
F
2
With Dependent Assortment:
r
y
r
y
Ratio is 3 round, yellow : 1 wrinkled, green
40
Independent Segregation
Alleles at the 2 gene loci segregate (separate) independently, and are
NOT transmitted as a unit. Therefore, each plant would produce
gametes with allele combinations that were not present in the gametes
inherited from its parents:

Parents
Parental Gametes
F
1
Offspring
R
Y
F
1
Offsprings
Gametes
R R
Y Y
r r
y y
r
y
R r
Y y
R
y
r
y
What is the expected phenotypic ratio for the F
2
?
R
Y
r
Y
41
Mendelian Genetics
Dihybrid cross - parental generation differs in two traits
example-- cross round/yellow peas with wrinkled/green ones

Round/yellow is dominant
RY Ry rY ry
RY
Ry
rY
ry
What are the expected phenotype ratios in the F
2
generation?
round, yellow = round, green =
wrinkled, yellow = wrinkled, green =
42
RR
YY
RR
Yy
Rr
YY
Rr
Yy
RR
Yy
RR
yy
Rr
Yy
Rr
yy
Rr
YY
Rr
Yy
rr
YY
rr
Yy
Rr
Yy
Rr
yy
rr
Yy
rr
yy
RY
RY
ry
ry
Phenotypic ratio is 9 : 3 : 3 : 1
F
2
with independent assortment:
Ry
rY
rY Ry
43
YYRR P Generation
Gametes YR yr
yyrr
YyRr
Hypothesis of
dependent
assortment
Hypothesis of
independent
assortment
F
2
Generation
(predicted
offspring)
1

2
YR
YR
yr
1

2

1

2

1

2
yr
YYRR YyRr
yyrr YyRr
3

4

1

4

Sperm
Eggs
Phenotypic ratio 3:1
YR
1

4

Yr
1

4

yR
1

4

yr
1

4

9

16

3

16

3

16

1

16

YYRR YYRr YyRR YyRr
Yyrr YyRr YYrr
YYrr
YyRR YyRr yyRR yyRr
yyrr yyRr Yyrr YyRr
Phenotypic ratio 9:3:3:1
315 108 101 32 Phenotypic ratio approximately 9:3:3:1
F
1
Generation
Eggs
YR Yr yR yr
1

4

1

4

1

4

1

4

Sperm
CONCLUSION The results support the hypothesis
ofindependent assortment. The alleles for seed color
and seed shape sort into gametes independently of
each other.
EXPERIMENT Two true-breeding pea plants
one with yellow-round seeds and the other with
green-wrinkled seedswere crossed, producing
dihybrid F
1
plants. Self-pollination of the F
1
dihybrids,
which are heterozygous for both characters,
produced the F
2
generation. The two hypotheses
predict different phenotypic ratios. Note that yellow
color (Y) and round shape (R) are dominant.
A Dihybrid Cross

How are two characters transmitted from parents to offspring?
As a package?
Independently?
A dihybrid cross
Illustrates the inheritance of two characters
Produces four phenotypes in the F2 generation
44




Dihybrid cross
F
2
generation ratio:

9:3:3:1
45
Law of Independent Assortment
Mendels dihybrid crosses showed a 9:3:3:1
phenotypic ratio for the F2 generation.
Based on these data, he proposed the Law of
Independent Assortment, which states that when
gametes form, each pair of hereditary factors
(alleles) segregates independently of the other
pairs.
46
Laws Of Probability Govern Mendelian Inheritance
Mendels laws of segregation and independent
assortment reflect the rules of probability
The multiplication rule
States that the probability that two or more
independent events will occur together is the product
of their individual probabilities
The rule of addition
States that the probability that any one of two or more
exclusive events will occur is calculated by adding
together their individual probabilities


47
Laws Of Probability - Multiplication Rule
The probability of two or more independent events
occurring together is the product of the probabilities that
each event will occur by itself

Following the self-hybridization of a heterozygous purple
pea plants (Pp), what is the probability that a given
offspring will be homozygous for the production of white
flowers (pp)?

Probability that a pollen seed will carry p:
Probability that an egg will carry p:

Probability that the offspring will be pp:
1/2 X 1/2 = 1/4

48
Laws Of Probability - Addition Rule
The probability of either of two mutually exclusive events
occurring is the sum of their individual probabilities

Following the self-hybridization of a heterozygous purple
pea plant (Pp), what is the probability that a given offspring
will be purple?

Probability of maternal P uniting with paternal P: 1/4
Probability of maternal p uniting with paternal P: 1/4
Probability of maternal P uniting with paternal p: 1/4

Probability that the offspring will be purple:
1/4 + 1/4 + 1/4 = 3/4

49
Probability In A Monohybrid Cross
Can be determined using these rules

Rr
Segregation of
alleles into eggs
Rr
Segregation of
alleles into sperm
R r
r
R
R
R
R
1

2

1

2

1

2

1

4

1

4

1

4

1

4

1

2
r
r
R
r
r
Sperm

Eggs
50
Mendels conclusions
Genes are distinct entities that remain
unchanged during crosses
Each plant has two alleles of a gene
Alleles segregated into gametes in equal
proportions, each gamete got only one allele
During gamete fusion, the number of alleles
was restored to two

51
Summary of Mendels Principles
Mendels Principle of Uniformity in F1:

F1 offspring of a monohybrid cross of true-breeding strains resemble only
one of the parents.
Why? Smooth seeds (allele S) are completely dominant to wrinkled seeds
(alleles).

Mendels Law of Segregation:

Recessive characters masked in the F1 progeny of two true-breeding
strains, reappear in a specific proportion of the F2 progeny.
Two members of a gene pair segregate (separate) from each other during
the formation of gametes.

Mendels Law of Independent Assortment:

Alleles for different traits assort independently of one another.
Genes on different chromosomes behave independently in gamete
production.


52
Exceptions To Mendels Original Principles
Incomplete dominance
Codominance
Multiple alleles
Polygenic traits
Epistasis

Pleiotropy
Environmental effects on
gene expression
Linkage
Sex linkage
53
Incomplete dominance
Neither allele is dominant and heterozygous individuals have an
intermediate phenotype
For example, in Japanese Four oclock, plants with one red allele and
one white allele have pink flowers:
P Generation
F
1
Generation
F
2
Generation
Red
C
R
C
R

Gametes C
R
C
W


White
C
W
C
W

Pink
C
R
C
W

Sperm
C
R

C
R

C
R

C
w

C
R

C
R
Gametes
1

2
1

2

1

2

1

2

1

2

Eggs
1

2

C
R
C
R
C
R
C
W
C
W
C
W
C
R
C
W
54
Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
F
1
generation
F
2
generation
C
R
C
R
All C
R
C
W

C
W
C
W

1 : 2 : 1
Gametes
Gametes
C
R
C
W
C
R
C
W
C
R
C
R
C
R
C
W
C
R
C
W
C
W
C
W
Incomplete Dominance
55
Codominance

Neither allele is dominant and both alleles are
expressed in heterozygous individuals
Example ABO blood types

56
Polygenic Traits
Most traits are not controlled by a single gene locus, but by
the combined interaction of many gene loci. These are
called polygenic traits.
Polygenic traits often show continuous variation, rather then
a few discrete forms:
57
Epistasis
Type of polygenic inheritance where the alleles at one gene
locus can hide or prevent the expression of alleles at a
second gene locus.
Labrador retrievers one gene locus affects coat color by
controlling how densely the pigment eumelanin is deposited
in the fur.
A dominant allele (B) produces a black coat while the
recessive allele (b) produces a brown coat
However, a second gene locus controls whether any
eumelanin at all is deposited in the fur. Dogs that are
homozygous recessive at this locus (ee) will have yellow fur
no matter which alleles are at the first locus:

58
Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
ee
No dark pigment in fur
eebb eeB_
Yellow fur Yellow fur
E_
Dark pigment in fur
E_bb E_B_
Brown fur Black fur
Epistasis
59
Pleiotropy
This is when a single gene locus affects more than
one trait.
For example, in Labrador retrievers the gene locus
that controls how dark the pigment in the hair will
be also affects the color of the nose, lips, and eye
rims.
60
Environmental Effects on Gene Expression
The phenotype of an organism depends not only on which
genes it has (genotype), but also on the environment under
which it develops.








Although scientists agree that phenotype depends on a complex interaction between
genotype and environment, there is a lot of debate and controversy about the relative
importance of these 2 factors, particularly for complex human traits.

61