Chap13FreemanBIO111 4

Mendel and
the Gene 13
PPT Lectures by
Stephanie Scher Pandolfi
and Sharon Gillies
© 2014 Pearson Canada, Inc.

Key Concepts
In many species, individuals have two alleles of each gene.
The principle of segregation states that prior to the formation
of eggs and sperm, the alleles of each gene separate so that
each egg or sperm cell receives only one of them.
The principle of independent assortment states that alleles of

different genes are transmitted to egg cells and sperm cells
independently of each other.
Chapter 13 © 2014 Pearson Canada, Inc. 13-2

Key Concepts
Genes are located on chromosomes. The principle of
segregation is explained by the separation of homologous
chromosomes in anaphase of meiosis I. The principle of
independent assortment applies to genes found on different
chromosomes and is explained by chromosomes lining up
randomly in metaphase of meiosis I.
There are important exceptions and extensions to the basic

patterns of inheritance that Mendel discovered.

Introduction
• In 1865, Gregor Mendel worked out the rules of inheritance
through a series of brilliant experiments on garden peas.
• Early in the 20th century, Walter Sutton and Theodor Boveri

formulated the chromosome theory of inheritance, which
proposes that meiosis causes the patterns of inheritance that
Mendel observed.
• Genetics is the branch of biology that focuses on inheritance.

Mendel’s Experimental System
• Gregor Mendel was a 19th-century monk and active member
of his city’s Agricultural Society.
• Mendel was interested in heredity. Heredity is the

transmission of traits from parents to their offspring. A trait is
any characteristic of an individual.

What Question Was Mendel Trying to Answer?
• Mendel was addressing the basic question of why offspring
resemble their parents and how transmission of traits occurs.
• In his time, two hypotheses had been formulated to try to

answer this question:
1. Blending inheritance – parental traits blend such that
their offspring have intermediate traits.
2. Inheritance of acquired characteristics – parental
traits are modified and then passed on to their offspring.

Garden Peas: The First Model Organism in Genetics
• Genetics, the branch of biology that focuses on the
inheritance of traits, uses model organisms because the
conclusions drawn from them can be applied to other species.
• Mendel chose the common garden pea (Pisum sativum) as his
model organism because:
– It is easy to grow.
– Its reproductive cycle is short.
– It produces large numbers of seeds.
– Its matings are easy to control.
– Its traits are easily recognizable.

How Did Mendel Arrange Matings?
• Peas normally pollinate themselves, a process called self-
fertilization or self-pollination.
• Mendel could prevent this by removing the male reproductive

organs containing pollen from each flower. He then used this
pollen to fertilize the female reproductive organs of flowers on
different plants, thus performing cross-fertilization or cross-
pollination.

What Traits Did Mendel Study?
• Mendel worked with pea varieties that differed in seven easily
recognizable traits: seed shape, seed colour, pod shape, pod
colour, flower colour, flower and pod position, and stem
length.
• An individual’s observable features comprise its phenotype.
Mendel’s pea population had two distinct phenotypes for each
of the seven traits.
• Mendel worked with pure lines that produced identical
offspring when self-pollinated. He used these plants to create
hybrids by mating two different pure lines that differed in one
or more traits.

Inheritance of a Single Trait
• Mendel's first experiments involved crossing pure lines that
differed in just one trait.
• The adults in the cross were the parental generation, the

offspring are the F1 generation (for "first filial").

The Monohybrid Cross
• Mendel’s first experimented with crossing plants that differed
in only one trait.
• When Mendel crossed plants with round seeds and plants with
wrinkled seeds, all of the F1 offspring had round seeds.
– This contradicted the hypothesis of blending inheritance.

– The genetic determinant for wrinkled seeds seemed to
have disappeared.
• Mendel allowed the F1 progeny to self-pollinate.
– The wrinkled seed trait reappeared in the next F2

generation.
Dominant and Recessive Traits
• Mendel called the genetic determinant for wrinkled seeds
recessive and the determinant for round seeds dominant.
– In modern genetics, the terms dominant and recessive
identify only which phenotype is observed in individuals
carrying two different genetic determinants.
• Mendel repeated these experiments with each of the other

traits. In each case, the dominant trait was present in a 3:1
ratio over the recessive trait in the F2 generation.

A Reciprocal Cross
• Mendel wanted to determine if gender influenced inheritance.
• He performed a reciprocal cross, in which the mother's

phenotype in the first cross is the father's phenotype in the
second cross, and the father's phenotype in the first cross is the
mother's phenotype in the second cross.
• The results of the two crosses were identical. This established

that it does not matter whether the genetic determinants for
seed shape are located in the male or female parent.

Particulate Inheritance
• To explain these results, Mendel proposed a hypothesis called
particulate inheritance, which suggests that hereditary
determinants maintain their integrity from generation to
generation.
– This directly contradicts both the blending inheritance and
inheritance of acquired characteristics hypotheses.

Genes, Alleles, and Genotypes
• Hereditary determinants for a trait are now called genes.
• Mendel also proposed that each individual has two versions of

each gene. Today these different versions of a gene are called
alleles. Different alleles are responsible for the variation in the
traits that Mendel studied.
• The alleles found in an individual are called its genotype. An

individual’s genotype has a profound effect on its phenotype.

The Principle of Segregation
To explain the 3:1 ratio of phenotypes in F2 individuals,
Mendel reasoned the two members of each gene pair must
segregate—that is, separate—into different gamete cells
during the formation of eggs and sperm in the parents.
This idea is called the principle of segregation

Genetic Notational Convention
• Mendel used a letter to indicate the gene for a particular trait.
For example, R represented the gene for seed shape. He used
uppercase (R) to show a dominant allele and lowercase (r) for
a recessive allele.
• Individuals have two alleles of each gene.

– Individuals with two copies of the same allele (RR or rr)
for a gene are said to be homozygous.
– Those with different alleles (Rr) are heterozygous.

Crossing Pure Lines
• Pure-line individuals always produce offspring with the same
phenotype because they are homozygous—no other allele is
present.
• A mating between two pure lines that differ in one trait (RR
and rr) results in offspring that all have a heterozygous
genotype (Rr) and a dominant phenotype.

The Monohybrid Cross
• A mating of two heterozygous parents results in offspring that
are ¼ RR, ½ Rr, and ¼ rr, which produces a 3:1 ratio of
phenotypes.
• Mendel proposed that during gamete formation in the F1

(heterozygous) individuals, the paired Rr alleles separate into
different gamete cells.

Testing the Model
• Mendel's genetic model—a set of hypotheses that explains
how a particular trait is inherited—explains the results of these
crosses.
• A Punnett square is now used to predict the genotypes and

phenotypes of the offspring from a cross.

Producing a Punnett Square
1. Write the gamete genotypes for one parent along the top of
the diagram.
2. Write the gamete genotypes for the other parent down the
left side of the diagram.
3. Draw empty boxes under the row and to the right of the
column of gametes.
4. Fill in each box with the genotypes written at the top of the
corresponding column and at the left of the corresponding
row.
5. Predict the ratios of each possible offspring genotype and
phenotype by tallying the resulting genotypes in all the
boxes.

Mendel’s Experiments with Two Traits
• Mendel used dihybrid crosses—matings between parents that
are both heterozygous for two traits—to determine whether
the principle of segregation holds true if parents differ in more
than one trait.
• Mendel’s experiments tested two contrasting hypotheses:

1. Independent assortment, in which alleles of different
genes are transmitted independently of each other.
2. Dependent assortment, wherein the transmission of one
allele depends upon the transmission of another.

The Principle of Independent Assortment
• Mendel’s results supported the principle of independent
assortment.
The Punnett square from a dihybrid cross predicts:
– There should be 9 different offspring genotypes and 4
phenotypes.
– The four possible phenotypes should be present in a ratio
of 9:3:3:1.
Based on these data, Mendel accepted the hypothesis that

alleles of different genes are transmitted independently of one
another. This result became known as the principle of
independent assortment.

Using a Testcross to Confirm Predictions
• In a testcross, a parent that is homozygous recessive for a
particular trait is mated with a parent that has the dominant
phenotype but an unknown genotype. Because the genetic
contribution of the homozygous recessive parent is known, the
genotype of the other parent can be inferred from the results.
• Mendel used the testcross to further confirm the principle of

independent assortment.

The Chromosome Theory of Inheritance
• The chromosome theory of inheritance arose out of Sutton
and Boveri’s observations of meiosis.
• Chromosomes are composed of Mendel’s hereditary
determinants, or genes.
• Genes are found at a particular position along a certain
chromosome, a locus (“place”; plural, loci ).
The physical separation of alleles during anaphase of meiosis

I is responsible for Mendel’s principle of segregation.

The Chromosome Theory of Inheritance
• The genes for different traits assort independently of one
another at meiosis I because they are located on different
nonhomologous chromosomes, which themselves assort
independently.
• This phenomenon explains Mendel’s principle of independent

assortment.

Testing the Chromosome Theory
• Early in the 20th century, Thomas Hunt Morgan adopted fruit
flies (Drosophila melanogaster) as a model organism for
genetic research.
• Morgan’s first goal was to identify different phenotypes.

– He called the most common phenotype for each trait wild-
type.
– He then inferred that phenotypes that differed from the
wild-type resulted from a mutation, or a change in a gene.
– Individuals with traits attributable to mutation are
known as mutants.

Thomas Hunt Morgan’s Experiments
• Morgan identified red eyes as the wild-type for eye colour,
and white eyes as a mutation.
• When he mated a wild-type female fly with a mutant male fly,

all of the F1 progeny had red eyes.
• However, when Morgan did the reciprocal cross, the F1

females had red eyes but the F1 males had white eyes.
• These experiments suggest a relationship between the sex of

the progeny and the inheritance of eye colour in Drosophila.

The Discovery of Sex Chromosomes
• Nettie Stevens analyzed beetle karyotypes and found that
females’ diploid cells contain 20 large chromosomes; but
males’ diploid cells have 19 large and 1 small (Y)
chromosomes.
– Y chromosomes pair with the large X chromosome during
meiosis I.
• X and Y chromosomes are now called sex chromosomes—

they determine the sex of the offspring.
– In beetles, females have two X chromosomes while males
have an X and Y.
– Other species have other systems.

Sex Linkage and the Chromosome Theory
• Sex chromosomes pair during meiosis I and then segregate
during meiosis II.
– This results in gametes with either an X or a Y
chromosome.
• Females produce all X gametes.
• Males produce half X gametes and half Y gametes.

X-Linked Inheritance
• Morgan put together his experimental results with Stevens’
observations on sex chromosomes, and proposed that the gene
for white eye colour in fruit flies is located on the X
chromosome and that the Y chromosome does not carry an
allele of this gene.
• Morgan's hypothesis is called X-linked inheritance (or X-

linkage). Females (XX) would then have two copies of the
gene and males (XY) would have only one.

X-Linked Inheritance and the Chromosome Theory
• The various inheritance patterns that can occur when genes
are carried on the sex chromosomes, such that females and
males have different numbers of alleles of that gene, is termed
sex-linked inheritance or sex-linkage.
• Non-sex chromosomes are called autosomes. Genes on

autosomes are said to show autosomal inheritance.
• The discovery of X-linked inheritance convinced most

biologists that the chromosome theory of inheritance was
correct.

Extending Mendel’s Rules
Once Mendel’s work was rediscovered, researchers began to
analyze traits and alleles whose inheritance was more
complicated.
• If experimental crosses produced F 2 progeny that did not

conform to the expected 3:1 or 9:3:3:1 ratios, researchers had
a strong hint that something interesting was going on

Genes Can Be Located on the Same Chromosome
• The physical association of two or more genes found on the
same chromosome is called linkage.
• Note that the terms linkage and sex-linkage differ in meaning.

If a single gene is sex-linked, it means that it is found on a sex
chromosome.
• Linked genes are predicted to always be transmitted together

during gamete formation and thus should violate the principle
of independent assortment.

The First Studies of Linked Genes
• To determine whether linked genes behave as predicted,
Morgan performed an experiment using Drosophila, in which
he mated two flies that were heterozygous for two sex-linked
traits.
• The results of this experiment included some fruit flies with

novel phenotypes. Morgan referred to these flies as
recombinant because the combination of alleles on their X
chromosome was different from the combinations of alleles
present in the parental generation.

Figure 13.13 Linked Genes Are Inherited Together Unless Recombination Occurs.
13-62
13-63
13-64
The First Studies of Linked Genes
• Morgan proposed that gametes with new, recombinant
genotypes were generated when crossing over occurred during
prophase of meiosis I in the females.
• Linked genes are inherited together unless crossing over

occurs. When crossing over takes place, genetic
recombination occurs.

BOX 13.1 QUANTITATIVE METHODS: Linkage
• Data on the percentage of recombinant offspring can be used

to estimate the location of genes, relative to one another, on
the same chromosome.
• Data on the frequency of crossing over can be used to create a

genetic map—a diagram showing the relative positions of
genes along a particular chromosome.
• Morgan proposed that genes are more likely to cross over

when they are far apart from each other than when they are
close together.

Extending Mendel’s Rules
• By studying a simple genetic system, Mendel discovered the
most fundamental rules of inheritance.
• Most genes are inherited in a more complex fashion, however,

than were the traits Mendel studied in garden peas.

Incomplete Dominance and Codominance
• Alleles of a gene are not always clearly dominant or recessive.
In some cases, incomplete dominance occurs, and the
heterozygotes have an intermediate phenotype.
• A heterozygous organism that displays the phenotype of both

alleles of a single gene is said to display codominance. In this
situation, neither allele is dominant or recessive to the other.

Multiple Alleles and Polymorphic Traits
• Many genes have more than two alleles, a situation known as
multiple allelism.
• When more than two distinct phenotypes are present in a

population due to multiple allelism, the trait is called
polymorphic.

Pleiotropy
• The alleles Mendel analyzed affected only a single trait. Some
genes, however, influence many traits—these genes are said to
be pleiotropic.
• An example of pleiotropy in humans is the gene responsible

for Marfan syndrome. Although research suggests that just a
single gene is involved, individuals with Marfan syndrome
exhibit a wide array of phenotypic effects, including increased
height and limb length, and potentially severe heart problems.

The Physical Environment Also Affects Phenotype
• Mendel controlled the physical environment of his plants to be
sure that it did not affect phenotype when he studied plant
height.
• Most phenotypes are strongly influenced by the physical

environment in addition to their corresponding genotypes.
• The combined effect of genes and environment is referred to

as gene-by-environment interaction.

Gene-by-Environment Interactions
• The human genetic disease phenylketonuria (PKU) is a good
example of a gene-by-environment interaction.
– Untreated, this disease causes phenylalanine to
accumulate in the body of affected individuals and results
in profound mental retardation.
– Individuals placed on a low-phenylalanine diet, however,
develop normally.

Interactions with Other Genes Affect Phenotypes
• The expression of many genes is dependent upon the presence
or absence of other genes.
• When these types of gene-by-gene interactions occur, the

phenotype produced by an allele depends on the action of
alleles of other genes.

Quantitative Traits
• Mendel worked with discrete traits, or characteristics that are
qualitatively different. In garden peas, seed colour is either
yellow or green—no intermediate phenotypes exist.
– Traits that are not discrete but instead fall into a
continuum are called quantitative traits.
• Nilsson-Ehle proposed that when many genes each contribute

a small amount to the value of a quantitative trait, then the
population usually exhibits a bell-shaped curve, or normal
distribution, for the trait.

Quantitative Traits
• Nilsson-Ehle used wheat to propose why the distribution of
kernel colour exhibited a normal distribution.
• Transmission of quantitative traits results from polygenic

inheritance, in which each gene adds a small amount to the
value of the phenotype.

Applying Mendel’s Rules to Humans
• Because experimental crosses cannot be done in humans,
pedigrees—family trees—are used to analyze the human
crosses that already exist.
• Pedigrees record the genetic relationships among the

individuals in a family, along with each person’s sex and
phenotype for the trait being studied.

Identifying Human Alleles as Recessive or Dominant
• If a given trait is due to a single gene, the pedigree may reveal
whether the trait is due to a dominant or recessive allele and
whether the gene responsible is located on a sex chromosome
or an autosome.
• To analyze the inheritance of a trait that shows discrete

variation, biologists begin by assuming the simplest case: that
a single autosomal gene is involved and that the alleles present
in the population have a simple dominant-recessive
relationship.

Patterns of Inheritance: Autosomal Recessive Traits
• When a phenotype is due to an autosomal recessive allele:
– Individuals with the trait must be homozygous.
– Unaffected parents of an affected individual are likely to be
heterozygous carriers for the trait.
– Carriers have the allele and transmit it without
exhibiting the phenotype.
• In general, a recessive phenotype should show up in offspring

only when both parents have that recessive allele and pass it
on to their offspring.

Patterns of Inheritance: Autosomal Dominant Traits
• Autosomal dominant traits are expressed in any individual
with at least one dominant allele.
– In other words, individuals who are homozygous or
heterozygous for the trait will display the dominant
phenotype.
• This is the case with Huntington's disease.

Is the Trait Autosomal or Sex-Linked?
• If a trait appears equally often in males and females, it is
likely to be autosomal. If males are much more likely to have
the trait, it is usually X-linked.
• Hemophilia is an example of an X-linked trait resulting from

a recessive allele.
– These traits usually skip generations in a pedigree.
• X-linked dominant traits rarely skip generations.

– These traits are indicated in a pedigree wherein an affected
male has all affected daughters but no affected sons.

Summary
• You should be able to
– Predict the gametes produced by any individual.
– Demonstrate the principal of independent assortment by
drawing the process of meiosis using 4 chromosomes and
following the movement of alleles.
– Construct a Punnet square for a mono and dihybrid cross.
– Analyze phenotypic ratios of mono and dihybrid crosses to
determine the mode of inheritance of a specific trait.
– Explain why some forms of inheritance such as linkage and
pleiotropy do not follow Mendel’s modes of inheritance.
– Demonstrate how sex-linked traits are inherited.
– Analyze a pedigree to determine the mode of inheritance of a
specific trait.

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Mendel and

© 2014 Pearson Canada, Inc.

The principle of independent assortment states that alleles of

Chapter 13 © 2014 Pearson Canada, Inc. 13-2

There are important exceptions and extensions to the basic

Chapter 13 © 2014 Pearson Canada, Inc. 13-3

• Early in the 20th century, Walter Sutton and Theodor Boveri

• Genetics is the branch of biology that focuses on inheritance.

Chapter 13 © 2014 Pearson Canada, Inc. 13-4

• Mendel was interested in heredity. Heredity is the

Chapter 13 © 2014 Pearson Canada, Inc. 13-5

• In his time, two hypotheses had been formulated to try to

Chapter 13 © 2014 Pearson Canada, Inc. 13-6

Chapter 13 © 2014 Pearson Canada, Inc. 13-7

• Mendel could prevent this by removing the male reproductive

Chapter 13 © 2014 Pearson Canada, Inc. 13-8

Chapter 13 © 2014 Pearson Canada, Inc. 13-12

• The adults in the cross were the parental generation, the

Chapter 13 © 2014 Pearson Canada, Inc. 13-13

– This contradicted the hypothesis of blending inheritance.

– The wrinkled seed trait reappeared in the next F2

• Mendel repeated these experiments with each of the other

Chapter 13 © 2014 Pearson Canada, Inc. 13-18

• He performed a reciprocal cross, in which the mother's

• The results of the two crosses were identical. This established

Chapter 13 © 2014 Pearson Canada, Inc. 13-20

Chapter 13 © 2014 Pearson Canada, Inc. 13-21

• Mendel also proposed that each individual has two versions of

• The alleles found in an individual are called its genotype. An

Chapter 13 © 2014 Pearson Canada, Inc. 13-22

This idea is called the principle of segregation

Chapter 13 © 2014 Pearson Canada, Inc. 13-23

• Individuals have two alleles of each gene.

Chapter 13 © 2014 Pearson Canada, Inc. 13-24

Chapter 13 © 2014 Pearson Canada, Inc. 13-25

• Mendel proposed that during gamete formation in the F1

Chapter 13 © 2014 Pearson Canada, Inc. 13-26

• A Punnett square is now used to predict the genotypes and

Chapter 13 © 2014 Pearson Canada, Inc. 13-30

Chapter 13 © 2014 Pearson Canada, Inc. 13-31

• Mendel’s experiments tested two contrasting hypotheses:

Chapter 13 © 2014 Pearson Canada, Inc. 13-32

Based on these data, Mendel accepted the hypothesis that

Chapter 13 © 2014 Pearson Canada, Inc. 13-33

• Mendel used the testcross to further confirm the principle of

Chapter 13 © 2014 Pearson Canada, Inc. 13-38

The physical separation of alleles during anaphase of meiosis

Chapter 13 © 2014 Pearson Canada, Inc. 13-40

• This phenomenon explains Mendel’s principle of independent

Chapter 13 © 2014 Pearson Canada, Inc. 13-42

• Morgan’s first goal was to identify different phenotypes.

Chapter 13 © 2014 Pearson Canada, Inc. 13-44

• When he mated a wild-type female fly with a mutant male fly,

• However, when Morgan did the reciprocal cross, the F1

• These experiments suggest a relationship between the sex of

Chapter 13 © 2014 Pearson Canada, Inc. 13-45

• X and Y chromosomes are now called sex chromosomes—

Chapter 13 © 2014 Pearson Canada, Inc. 13-49

• Females produce all X gametes.

• Males produce half X gametes and half Y gametes.

Chapter 13 © 2014 Pearson Canada, Inc. 13-50

• Morgan's hypothesis is called X-linked inheritance (or X-

Chapter 13 © 2014 Pearson Canada, Inc. 13-52

• Non-sex chromosomes are called autosomes. Genes on