Handouts

BOT112-GENETICS

Chapter 3 GENE SEGREGATION AND INTEACTION

A. Law of Segregation

Key points:

 Gregor Mendel studied inheritance of traits in pea plants. He proposed a model

where pairs of "heritable elements," or genes, specified traits.
 Genes come in different versions, or alleles. A dominant allele hides a recessive
allele and determines the organism's appearance.
 When an organism makes gametes, each gamete receives just one gene copy,
which is selected randomly. This is known as the law of segregation.
 A Punnett square can be used to predict genotypes (allele combinations) and
phenotypes (observable traits) of offspring from genetic crosses.
 A test cross can be used to determine whether an organism with a dominant
phenotype is homozygous or heterozygous.

Introduction

The Law of Segregation is a fundamental principle in genetics that explains how traits
are inherited from one generation to the next. It was first proposed by Gregor Mendel,
an Austrian monk who conducted pioneering experiments on pea plants in the mid-19th
century. Mendel's work laid the foundation for modern genetics and helped to establish
the field of classical genetics.

The Law of Segregation states that during gamete formation, the alleles (alternate forms
of a gene) for each trait separate from each other so that each gamete carries only one
allele for each trait. In other words, when an organism produces gametes (sperm or egg
cells), the two alleles for a given gene segregate from each other, and only one allele is
passed on to each gamete.

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Even without influencing each other, they stay on together in pure form. They don’t mix
or blend. Therefore the segregation law is also known as the law of purity of gametes for
this reason. During the formation of gametes, the segregation of two alleles of a gene
usually occurs because of the segregation of homologous chromosomes during meiosis.

According to the law of segregation, only one of the two gene copies present in an
organism is distributed to each gamete (egg or sperm cell) that it makes, and the
allocation of the gene copies is random. When an egg and a sperm join in fertilization,
they form a new organism, whose genotype consists of the alleles contained in the
gametes. The diagram below illustrates this idea:

Examples: Let's take a look at some examples of the Law of Segregation in action:

1. Eye color in humans: The gene that controls eye color in humans has two alleles:
one for brown eyes (B) and one for blue eyes (b). If a person is heterozygous (Bb)
for this gene, they will have brown eyes, because the brown allele is dominant
over the blue allele. However, when this person produces gametes, the B and b

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 alleles segregate from each other, so that each gamete carries either a B or a b
allele. Therefore, the person's offspring have a 50/50 chance of inheriting either a
B or a b allele, and their eye color will depend on which allele they inherit from
each parent.

b b
B Bb Bb

b bb bb

2. Flower color in pea plants: In Mendel's experiments with pea plants, he studied
the inheritance of flower color. The gene for flower color has two alleles: one for
purple flowers (P) and one for white flowers (p). When Mendel crossed two
plants that were heterozygous for this gene (Pp x Pp), he observed that the
offspring had a 3:1 ratio of purple to white flowers. This is because during gamete
formation, the P and p alleles segregated from each other, so that each gamete
carried either a P or a p allele. Therefore, when the gametes from the two
heterozygous parents combined, there was a 25% chance of producing a
homozygous dominant (PP), a 50% chance of producing a heterozygous (Pp), and
a 25% chance of producing a homozygous recessive (pp) offspring.

P p
P Pp Pp

p Pp pp

3. Seed shape in pea plants: Mendel also studied the inheritance of seed shape in
pea plants. The gene for seed shape has two alleles: one for round seeds (R) and
one for wrinkled seeds (r). When Mendel crossed two plants that were
heterozygous for this gene (Rr x Rr), he observed that the offspring had a 3:1 ratio
of round to wrinkled seeds. This is because during gamete formation, the R and r
alleles segregated from each other, so that each gamete carried either an R or an r
allele. Therefore, when the gametes from the two heterozygous parents
combined, there was a 25% chance of producing a homozygous dominant (RR), a

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 50% chance of producing a heterozygous (Rr), and a 25% chance of producing a
homozygous recessive (rr) offspring.

R r
R RR Rr

r Rr rr

B. The Law of Independent Assortment

The law of independent assortment is another fundamental principle of genetics

that describes how different genes are inherited independently of each other. This
law was also first proposed by Gregor Mendel, based on his experiments with pea
plants.

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 The law of independent assortment states that the inheritance of one gene does
not affect the inheritance of another gene. In other words, the alleles for one gene
segregate independently of the alleles for another gene during gamete formation.
This means that the combination of alleles for one gene in an individual is not
influenced by the combination of alleles for another gene.

This principle helps to explain how genetic variation is maintained in populations

and why individuals can display a wide range of different traits, even within the
same family. It also has important implications for predicting the likelihood of
certain traits appearing in offspring, as the inheritance of one trait does not affect
the inheritance of another trait.

To understand this principle, let's take an example of pea plants.

In pea plants, there are two genes that control two different traits, such as flower color
and seed shape. Let's call these genes A and B. The gene A can have two versions, or
alleles: a dominant allele A that produces purple flowers and a recessive allele a that
produces white flowers. Similarly, the gene B can have two versions: a dominant allele B
that produces round seeds and a recessive allele b that produces wrinkled seeds.

When two pea plants with different genotypes (the genetic makeup of an individual)
mate, their offspring will inherit one allele from each parent. For example, if a pea plant
with genotype AA (homozygous dominant for gene A) and BB (homozygous dominant
for gene B) mates with a pea plant with genotype aa (homozygous recessive for gene A)
and bb (homozygous recessive for gene B), their offspring will inherit one allele of A and
B from each parent.

The offspring's genotype could be any combination of these alleles, such as AaBb, AaBb,
Aabb, aaBb, aabb, and so on. The key point here is that the inheritance of one gene (A)
does not affect the inheritance of another gene (B). This is because the genes for flower
color and seed shape are located on different chromosomes and are inherited
independently of each other.

BA bA Ba ba
AB AABB AABb AaBB AaBb 9:3:3:1
Ab AABb AAbb AaBb Aabb 9-Purple flower and round seed
aB AaBB AaBb aaBB aaBb 3-Purple flower and wrinkle seed
ab AaBb Aabb aaBb aabb
3-white flower and round seed
1- white flower and wrinkle seed

The law of independent assortment states that when two or more characteristics are
inherited, they do so independently of each other. This means that the alleles for one

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gene do not influence the alleles of another gene during gamete formation (formation of
sex cells) and fertilization. Therefore, the inheritance of one gene is not linked or
correlated to the inheritance of another gene.

In conclusion, the law of independent assortment explains how different traits are
inherited independently of each other. It helps us understand how genetic diversity is
maintained in populations and is a fundamental concept in genetics.

3. Law of Dominance

Introduction

The Law of Dominance is a fundamental principle in genetics that explains how certain
traits are dominant over others. It was first proposed by Gregor Mendel, an Austrian
monk who conducted pioneering experiments on pea plants in the mid-19th century.
Mendel's work laid the foundation for modern genetics and helped to establish the field
of classical genetics.

The Law of Dominance states that when two different alleles (alternate forms of a gene)
are present in an individual, one allele will be expressed (dominant) and the other allele
will not be expressed (recessive). In other words, the dominant allele masks the
expression of the recessive allele.

Examples: Let's take a look at some examples of the Law of Dominance in action:

1. Eye color in humans: The gene that controls eye color in humans has two alleles:
one for brown eyes (B) and one for blue eyes (b). The brown allele is dominant
over the blue allele, so if an individual has one or two copies of the brown allele
(BB or Bb), they will have brown eyes. Only individuals who have two copies of
the recessive blue allele (bb) will have blue eyes.
2. Flower color in pea plants: In Mendel's experiments with pea plants, he studied
the inheritance of flower color. The gene for flower color has two alleles: one for
purple flowers (P) and one for white flowers (p). The purple allele is dominant
over the white allele, so if a pea plant has one or two copies of the purple allele
(PP or Pp), it will have purple flowers. Only pea plants that have two copies of the
recessive white allele (pp) will have white flowers.
3. Seed color in pea plants: Mendel also studied the inheritance of seed color in pea
plants. The gene for seed color has two alleles: one for yellow seeds (Y) and one
for green seeds (y). The yellow allele is dominant over the green allele, so if a pea
plant has one or two copies of the yellow allele (YY or Yy), it will have yellow
seeds. Only pea plants that have two copies of the recessive green allele (yy) will
have green seeds.

Conclusion: The Law of Dominance is a fundamental principle in genetics that explains

how certain traits are dominant over others. It states that when two different alleles are
present in an individual, one allele will be expressed (dominant) and the other allele will

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not be expressed (recessive). This allows for the inheritance of traits to be predictable
and can be used to predict the likelihood of certain traits being expressed in offspring.

Four types of dominance relationships

1. Complete Dominance: Complete dominance occurs when one allele completely

masks the expression of another allele in a heterozygous individual. This means
that only the dominant allele is expressed, while the recessive allele is completely
hidden.

Example: Flower color in pea plants. The gene for flower color has two alleles: one for
purple flowers (P) and one for white flowers (p). If a pea plant is homozygous dominant
(PP) or heterozygous (Pp) for the purple flower allele, it will have purple flowers. Only if
the plant is homozygous recessive (pp) will it have white flowers.

Illustration:

p p
P Pp Pp

P Pp Pp

2. Incomplete Dominance: Incomplete dominance occurs when neither allele is

completely dominant, and the heterozygous phenotype is an intermediate or
blended phenotype of both alleles. This means that both alleles are expressed, but
in a blended or mixed way.

Example: Flower color in roses. The gene for flower color has two alleles: one for red
flowers (R) and one for white flowers (r). If a roses is heterozygous (Rr) for the flower
color gene, it will have pink flowers, which is an intermediate blend of the red and white
alleles.

Illustration:

R W

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 R RR RW

W RW WW

3. Co-dominance: Co-dominance occurs when both alleles in a heterozygous

individual are expressed equally and separately. This means that both traits are
expressed independently of each other.

Example: Blood type in humans. The gene for blood type has three alleles: A, B, and O.
If an individual has one A allele and one B allele (AB), both alleles are expressed equally,
resulting in an AB blood type.

Illustration:

B B

A AB AB

A AB AB

4. Overdominance: Overdominance occurs when the heterozygous phenotype is

more extreme than either homozygous phenotype. This means that the
heterozygous individual has a trait that is better than either homozygous
individual.

Example: Sickle cell anemia in humans. The gene for hemoglobin has two alleles: one
for normal hemoglobin (HbA) and one for sickle cell hemoglobin (HbS). Individuals
who are homozygous for the normal allele (HbA/HbA) have normal red blood cells,
while individuals who are homozygous for the sickle cell allele (HbS/HbS) have sickle-
shaped red blood cells, which can lead to health problems. However, individuals who
are heterozygous (HbA/HbS) have red blood cells that are resistant to malaria, which is
an advantage in regions where malaria is common.

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In summary, different dominance relationships can affect how alleles interact with each
other and how traits are expressed in individuals. Understanding these relationships is
important in understanding patterns of inheritance and genetic diversity.

The Law of Dominance is a fundamental principle in genetics that explains how certain
traits are dominant over others. It states that when two different alleles are present in an
individual, one allele will be expressed (dominant) and the other allele will not be
expressed (recessive). This allows for the inheritance of traits to be predictable and can
be used to predict the likelihood of certain traits being expressed in offspring.

MULTIPLE ALLELES

Multiple alleles refer to the existence of more than two alleles (versions of a gene) for a
given trait in a population. This is in contrast to Mendelian inheritance, where only two
alleles (one from each parent) are present for each gene. In multiple allelic systems,
there are several different versions of a gene that can produce different phenotypes, or
observable traits, depending on which alleles are present.

One well-known example of multiple alleles is the ABO blood group system in humans.
The ABO system is controlled by three alleles, designated as A, B, and O. Individuals can
have one of four blood types (A, B, AB, or O) depending on which alleles they inherit.
The A and B alleles are codominant, meaning that both alleles can be expressed in the
phenotype of individuals who have both alleles, whereas the O allele is recessive to both
A and B.

Another example of multiple alleles is the coat color of rabbits. The gene responsible for
coat color in rabbits has four known alleles: C, c(ch), c(h), and c. Each allele produces a

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different form of a protein involved in pigment production, and the combination of
alleles determines the color of the rabbit's fur. The C allele produces normal
pigmentation, while the other three alleles result in different degrees of albino or
chinchilla coloration.

Multiple allelic systems can have more complex inheritance patterns than simple
Mendelian traits. For example, in the ABO blood group system, the inheritance of alleles
follows a pattern of codominance and dominance, with some alleles being recessive to
others. The expression of multiple alleles can also be influenced by other genetic factors
or environmental factors.

In summary, multiple alleles are the presence of more than two alleles for a given trait in
a population, which can result in greater phenotypic diversity. The expression of
multiple alleles can follow complex inheritance patterns and be influenced by other
genetic or environmental factors. The ABO blood group system and coat color in rabbits
are examples of multiple allelic systems in genetics.

LETHAL GENES: Recessive lethal and Dominance lethal

Lethal genes are genes that, when expressed, cause death or the failure to develop
properly in an organism. There are two types of lethal genes: recessive lethal genes and
dominance lethal genes.

Recessive lethal genes are genes that are lethal only when an individual inherits two
copies of the recessive allele. This means that individuals who carry one copy of the
recessive allele do not show any symptoms and are called carriers. The disease-causing
allele is usually rare in the population, and its effects may not be noticeable until two
carriers have children and pass on the recessive allele to their offspring. This results in a
25% chance of their offspring inheriting two copies of the recessive allele and dying
before birth or soon after.

One example of a recessive lethal gene in humans is the Tay-Sachs disease. This disease
is caused by a mutation in the HEXA gene, which produces an enzyme that breaks down
a fatty substance called ganglioside GM2. In individuals with Tay-Sachs disease, the
enzyme is not produced, leading to the accumulation of ganglioside GM2 in nerve cells
and causing progressive damage to the nervous system. Individuals who inherit two
copies of the mutated gene develop the disease and usually die before the age of four.

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Dominance lethal genes are genes that are lethal when an individual inherits even
one copy of the dominant allele. This means that individuals who carry the dominant
allele do not survive to reproduce, resulting in the dominant lethal allele being rare in
the population. In some cases, individuals may carry a lethal dominant allele but not
express it due to incomplete penetrance or variable expressivity.

Example : Inheritance of fur colour in mpice :

The gene of yellow fur color in mice ( Y ) dominates over the gene of gray
fur colour ( y), The presence of a pair of pure ( homozygous ) dominant
genes of yellow fur colour causes the death of yellow mice inside their
mother’s uterus.

The dead mice represent about ¼ of the resulted generation ( 25 % ) , The

inheritance of this character takes place through heterozygous parents in
their genotype .

Example : what is the percentage of loss of mice when a yellow male mice is
mated with a gray female mice ?

There is no loss in mice due to the lack of a pair of dominant pure

(homozygous) lethal genes converted together ( there are no pure yellow
mice among the individuals of the resulted generation ) .

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In summary, lethal genes are genes that cause death or developmental defects when
expressed. Recessive lethal genes are only lethal when an individual inherits two copies
of the recessive allele, while dominant lethal genes are lethal when an individual inherits
even one copy of the dominant allele.
MODIFIER GENES

Modifier genes are genes that can affect the expression or severity of other genes or
traits. They do not directly cause a particular trait, but instead influence how it is
expressed or how severe its effects are. Modifier genes can have a range of effects on
other genes, from enhancing or suppressing their activity to changing the timing or
location of their expression.

One example of a modifier gene is the modifier of mdg4 (mod(mdg4)) gene in fruit flies.
This gene can modify the expression of another gene called mdg4, which is involved in
the regulation of gene expression during development. Mutations in mod(mdg4) can
enhance the effects of mdg4, leading to abnormal development and reduced viability of
the fruit flies.

Another example of a modifier gene is the suppressor of variegation 3-9 [Su(var)3-9]

gene in plants. This gene can modify the expression of another gene called the
variegation locus, which is involved in the regulation of pigmentation in plants.
Mutations in Su(var)3-9 can suppress the expression of the variegation locus, leading to
increased pigmentation and a change in the plant's color.

Modifier genes can also play a role in genetic disorders, either by modifying the effects
of disease-causing genes or by increasing or decreasing the risk of developing a disorder.
For example, in cystic fibrosis, modifier genes can influence the severity of symptoms

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and the age of onset of the disease. Modifier genes have also been implicated in other
genetic disorders such as Huntington's disease and sickle cell anemia.

In summary, modifier genes are genes that can affect the expression or severity of other
genes or traits. They can have a range of effects on other genes, from enhancing or
suppressing their activity to changing the timing or location of their expression.
Examples of modifier genes include mod(mdg4) in fruit flies and Su(var)3-9 in plants.
Modifier genes can also play a role in genetic disorders, influencing the severity of
symptoms and the age of onset of the disease.

GENE INTERATIONS:

Gene interactions refer to the way in which the expression of one gene can be influenced by the
expression of another gene. These interactions can occur at various levels, such as transcription,
translation, and post-translational modification.

There are several types of gene interactions, including:

1. Epistasis: This occurs when the expression of one gene masks or modifies the expression
of another gene.
2. Synergistic interaction: This occurs when the expression of two or more genes together
produces a greater effect than the sum of their individual effects.
3. Redundant interaction: This occurs when two or more genes have similar functions and
can compensate for each other if one is defective.
4. Combinatorial interaction: This occurs when the expression of multiple genes is required
to produce a particular phenotype.
5. Modifier gene interaction: This occurs when the expression of one gene modifies the
phenotype caused by a mutation in another gene.

Understanding gene interactions is important in fields such as genetics, genomics, and

developmental biology, as it can help us better understand the underlying mechanisms that
govern biological processes and disease development.

Novel Henotypes

A novel phenotype refers to a new or unique observable characteristic or trait that has not been
previously identified or observed in a particular species or population. This can occur as a result
of genetic mutations, environmental factors, or a combination of both.

For example, if a particular gene mutation arises in a population of birds that results in a new
physical trait, such as a unique color pattern on their feathers, this would be considered a novel
phenotype. Similarly, if a population of plants is exposed to a new environmental stressor and
develops a unique growth pattern or flower shape as a result, this would also be considered a
novel phenotype.

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Novel phenotypes can have significant implications for the evolution of a species, as they may
confer new advantages or disadvantages in certain environments, affect reproductive success, or
lead to new adaptations. Therefore, understanding the mechanisms that lead to the emergence of
novel phenotypes is important in fields such as evolutionary biology, genetics, and ecology.

Pseudoalleles

Pseudoalleles are pairs of genes that appear to be alleles of each other but are actually distinct
genes that happen to have similar or identical sequences. This can occur due to gene duplication
events, where a gene is copied and becomes a separate gene with a similar sequence to the
original gene. Pseudoalleles are also sometimes referred to as "duplicate genes" or "paralogous
genes."

Pseudoalleles can be confusing because they can have similar sequences, similar functions, and
similar patterns of inheritance, which can make it difficult to distinguish them from true alleles.
However, unlike true alleles, which are different versions of the same gene located in the same
position on homologous chromosomes, pseudoalleles are located on different positions on the
same or different chromosomes.

One example of pseudoalleles in humans are the alpha and beta globin genes. These two genes
are located on different chromosomes, but they have very similar sequences and play similar
roles in the production of hemoglobin. Mutations in either gene can result in similar types of
hemoglobinopathies, such as sickle cell anemia.

Pseudoalleles can also play a role in evolution, as duplicated genes can undergo mutations and
diverge in sequence and function over time, potentially leading to the development of new genes
and traits.
Environmental Influence on Gene Expression

Environmental factors that influence gene expression can be broadly classified into two
categories: external environment and internal environment.

External environment refers to the external factors that an organism is exposed to, such as
temperature, light, nutrients, toxins, and social interactions. These factors can have direct or
indirect effects on gene expression, either through epigenetic modifications, changes in
transcription factor activity, or alterations to metabolic pathways.

For example, temperature can influence the expression of genes involved in heat shock response
or cold adaptation. Nutrient availability can affect the expression of genes involved in energy
metabolism or cell growth. Toxins or pollutants can lead to epigenetic modifications that alter
gene expression and potentially lead to disease or developmental abnormalities. Social
interactions can also affect gene expression through changes in stress hormones and behavior.

Internal environment, on the other hand, refers to the physiological and biochemical conditions
within an organism that can affect gene expression. These include factors such as hormone

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levels, metabolic state, and cellular stress responses. For example, changes in hormone levels
during pregnancy can affect the expression of genes involved in fetal development, while
changes in metabolic state can affect the expression of genes involved in energy metabolism and
homeostasis.

Understanding the complex interplay between external and internal environmental factors and
gene expression is important in various fields such as medicine, nutrition, and environmental
science, as it can help us better understand the mechanisms underlying disease and
developmental processes, and develop strategies for disease prevention and treatment.

Twin studies: concordance and discordance

Twin studies are a type of research design used to investigate the role of genetics and
environment in the development of various traits and disorders. In twin studies, researchers
compare the similarity between pairs of monozygotic (identical) and dizygotic (fraternal) twins
in terms of the trait or disorder of interest.

Concordance refers to the degree of similarity between twins with respect to a particular trait or
disorder. In twin studies, concordance is typically measured using a statistical index called the
concordance rate, which is the proportion of twin pairs in which both twins exhibit the trait or
disorder of interest. For example, if the concordance rate for a certain disorder is 50%, it means
that 50% of twin pairs in the study have both twins affected by the disorder.

Discordance refers to the degree of difference between twins with respect to a particular trait or
disorder. In twin studies, discordance occurs when one twin has the trait or disorder of interest
while the other twin does not. Discordance is often used as evidence for the importance of
environmental factors in the development of the trait or disorder, as it suggests that differences in
the twins' environments (e.g., differences in experiences or exposures to risk factors) may be
responsible for the difference in outcomes.

Twin studies are particularly useful for investigating the relative contribution of genetics and
environment to the development of traits and disorders, as they allow researchers to compare the
similarity between twins who share varying degrees of genetic and environmental similarity. By
comparing the concordance and discordance rates of monozygotic and dizygotic twins,
researchers can estimate the heritability of the trait or disorder, which is the proportion of the
variation in the trait or disorder that can be attributed to genetic factors.

Probability and statistical testing: level of significance, chi-square test and

binomial distribution

Level of significance, chi-square test, and binomial distribution are all important concepts in
probability and statistical testing.

Level of significance is the probability of rejecting the null hypothesis when it is actually true. It
is commonly denoted by the Greek letter alpha (α) and is typically set at 0.05 or 0.01, meaning
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that there is a 5% or 1% chance of rejecting the null hypothesis when it is actually true. The level
of significance is an important parameter in statistical testing, as it determines the threshold for
determining whether a result is statistically significant or not.

The chi-square test is a statistical test used to determine whether there is a significant association
between two categorical variables. The test involves calculating a chi-square statistic based on
the observed frequencies of each category and comparing it to the expected frequencies under the
null hypothesis of no association. If the chi-square statistic is greater than a critical value at a
given level of significance, the null hypothesis is rejected in favor of the alternative hypothesis
that there is a significant association between the two variables.

The binomial distribution is a probability distribution that describes the number of successes in a
fixed number of independent trials, where each trial has a fixed probability of success. The
distribution is characterized by two parameters: the probability of success (denoted by p) and the
number of trials (denoted by n). The binomial distribution is commonly used in statistical testing
to evaluate whether an observed proportion or percentage is significantly different from a
hypothesized value. In this case, the null hypothesis assumes that the observed proportion is
equal to the hypothesized value, and the binomial distribution is used to calculate the probability
of obtaining the observed result or a more extreme result assuming the null hypothesis is true. If
this probability is less than the level of significance, the null hypothesis is rejected in favor of an
alternative hypothesis.

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