MENDAL’S WORK ON TRANSMISSON OF TRAITS

Gregor Mendel, "Father of Genetics," conducted experiments in the mid-19th century that laid to the
understanding of inheritance and the transmission of traits. Mendel's work with pea plants (Pisum sativum)
allowed him to observe how traits are passed from one generation to the next. His experiments led to the
formulation of key genetic principles now known as Mendel's Laws of Inheritance.

 Principle of Segregation
 Principle of Independent Assortment
 Principle of Dominance

Mendel chose pea plants for his studies for several reasons:

1. They have clearly distinguishable traits (such as flower color, seed shape, and pod color).

2. They reproduce quickly and therefore, many generations can be studied within a short period of
time

3. Pea plants are self-fertilizing, but Mendel could also cross-pollinate them manually to study the
inheritance of traits.

Mendel focused on seven distinct traits in pea plants:

1. Seed shape (round vs. wrinkled).

2. Seed color (yellow vs. green).
3. Flower color (purple vs. white).
4. Pod shape (inflated vs. constricted).
5. Pod color (green vs. yellow).
6. Flower position (axial vs. terminal).
7. Plant height (tall vs. dwarf).

Mendel hypothesized that allele pairs separate randomly, or segregate, from each other during the
production of the gametes in the seed plant (egg cell) and the pollen plant (sperm). Mendel found very
similar patterns of inheritance for all seven features he studied.

Mendel conducted 2 main experiments to determine the laws of

inheritance. These experiments were: Monohybrid Cross &
Dihybrid Cross.

Monohybrid Cross
In this experiment, Mendel took two pea plants of opposite
traits (one short and one tall) and crossed them. He found the
first generation offspring were tall and called it F1 progeny.
Then he crossed F1 progeny and obtained both tall and short
plants in the ratio 3:1.
From these observations, Mendel formulated his first law:

Mendel's First Law: The Law of Segregation

This law states that:  During gamete formation, the two alleles for a trait (one from each
parent) separate, or segregate, so that each gamete carries only one allele for each trait.

 When two gametes unite during fertilization, the offspring inherits one allele from each
parent, restoring the diploid condition.

Dihybrid Cross
Mendel expanded his experiments to include dihybrid crosses, where he examined the
inheritance of two traits simultaneously. For example, he studied the inheritance of seed
shape (round vs. wrinkled) and seed color (yellow vs. green).

Mendel's Second Law: The Law of Independent Assortment

This law states that:

 The alleles for different traits segregate independently of each other during gamete
formation.
 The inheritance of one trait does not affect the inheritance of another.

Definition of the Law of Dominance:

The Law of Dominance states that in a heterozygous condition (where an organism has two different
alleles for a trait), one allele may mask or dominate the expression of the other. The allele that is
expressed is called the dominant allele, and the one that is masked is the recessive allele.

In simple terms:

 When two different alleles are present, the dominant allele determines the organism’s
appearance (phenotype), while the recessive allele has no visible effect unless paired with
another recessive allele.

Example:

In Mendel's classic experiment with pea plants, he studied the trait of flower color. He crossed a true-
breeding plant with purple flowers (dominant trait) with a true-breeding plant with white flowers
(recessive trait).

 Parental Generation (P):

o Purple flower plant: PP (homozygous dominant).
o White flower plant: pp (homozygous recessive).
 First Filial Generation (F₁):
o All offspring were Pp (heterozygous), and they all exhibited purple flowers, because
the P (purple) allele is dominant over the p (white) allele.

Even though the F₁ generation carried both the purple and white flower alleles (Pp), only the purple
flower trait was expressed, which illustrated the principle of dominance.
Exceptions to the Law of Dominance:

1. Incomplete Dominance

 In incomplete dominance, neither allele is completely dominant over the other. As a

result, the heterozygous individual expresses an intermediate or blended phenotype
between the two parental traits.

Example:

o In snapdragon flowers, crossing a plant with red flowers (RR) with one
having white flowers (rr) results in heterozygous offspring with pink flowers
(Rr).

Codominance

Definition: In codominance, both alleles in a heterozygous individual are fully expressed,

resulting in offspring that display traits from both alleles simultaneously.

Example:Human Blood Types: The ABO blood group system has three alleles: A, B, and
O. Individuals with genotype AB express both A and B antigens on their red blood cells,
demonstrating codominance. Here, both alleles contribute equally to the phenotype.

 Sickle Cell Trait:The sickle cell allele (HbS) demonstrates codominance. Individuals
who are heterozygous (HbA/HbS) produce both normal hemoglobin (HbA) and
sickle-shaped hemoglobin (HbS). This results in a mix of red blood cells, some
normal and some sickle-shaped, in their blood.
 MULTIPLE ALLELES

Multiple alleles refer to the presence of more than two alleles for a particular gene within a population. While
any individual can only possess two alleles (one from each parent), multiple alleles increase genetic diversity
and can lead to a wider range of phenotypes.

Key Characteristics of Multiple Alleles

1. Presence in a Population: Multiple alleles exist within a population, but any individual organism can
have only two of them.
2. Complex Inheritance Patterns: The interactions between these alleles can lead to various inheritance
patterns, including dominance, codominance, and incomplete dominance.
3. Higher Genetic Variation: Multiple alleles contribute to the genetic diversity of a species, enhancing
adaptability and evolution
4. Increased Phenotypic Diversity: Multiple alleles allow for a greater variety of traits within a
population, which can be beneficial for adaptation and survival.

The classic example of multiple alleles is the ABO blood group system in humans.

LETHAL ALLELES
Lethal alleles are specific alleles that, when present in a homozygous state (two copies of the allele),
can cause the death of the organism.

Key Characteristics of Lethal Alleles

1. Homozygosity: Lethal alleles typically have harmful effects when an individual carries two copies
(homozygous) of the allele. In many cases, heterozygous individuals (one copy of the lethal allele and
one normal allele) may survive and show normal phenotypes.
2. Genetic Variability: These alleles can lead to reduced genetic variability within a population if they
consistently result in non-viable offspring.
3. Inheritance Patterns: Lethal alleles can influence inheritance ratios, leading to unexpected outcomes
in progeny.

Types of Lethal Alleles

1. Recessive Lethal Alleles:

o These alleles are lethal only in the homozygous state. Heterozygous individuals
typically survive and may exhibit a normal phenotype.
o Example of recessive lethals is as seen in the case of a Manx cat. The gene for a
tailless phenotype (M) is dominant, but homozygous MM individuals do not survive.

2. Dominant Lethal Alleles:

 These alleles are lethal even in the heterozygous state. If an individual carries one copy of the
dominant lethal allele, it will typically lead to death.
 Example: In certain genetic conditions, such as Huntington's disease, individuals with one
copy of the mutated allele will eventually develop the disease, which can be fatal.

3.Conditional Lethal Genes

 Definition: These genes are lethal under specific environmental conditions but may not be
lethal under others. The lethality is dependent on environmental factors.
 Examples:
 o Temperature-Sensitive Lethal Alleles: In some organisms, like certain fruit flies
(Drosophila), a lethal allele may cause death at high temperatures but not at lower
temperatures.

4. Developmental Lethal Genes

 Definition: These genes cause lethality due to developmental abnormalities, leading to death
at certain stages of development (e.g., embryonic or fetal stages).
 Examples:
o Embryonic Lethality in Mice: Some mutations can lead to severe defects during
embryonic development, resulting in death before birth.

5. Semi-Lethal Genes

 Definition: These genes may cause lethality but do not always result in death; instead, they
may lead to reduced fitness, abnormal phenotypes, or increased susceptibility to diseases.
 Examples:
o Sickle Cell Trait: Individuals with one copy of the sickle cell allele (HbS) may have
reduced fitness due to complications but are not necessarily lethally affected.

EPISTASIS

Epistasis is a genetic phenomenon where the expression of one gene (the epistatic gene) masks or modifies the
expression of another gene (the hypostatic gene). This interaction can significantly influence phenotypic traits
and inheritance patterns.

Key Characteristics of Epistasis

1. Gene Interaction: Epistasis involves at least two genes that influence the same trait. The epistatic
gene's alleles can suppress or enhance the expression of the alleles of the hypostatic gene.
2. Altered Phenotypic Ratios: Epistatic interactions can lead to unexpected ratios in offspring
phenotypes during genetic crosses, deviating from Mendelian inheritance.
3. Types of Epistasis: There are several types of epistasis, each characterized by how the genes interact.

Types of Epistasis

1. Recessive Epistasis:
o Definition: In this case, the presence of two recessive alleles at the epistatic locus masks the
expression of alleles at the hypostatic locus.
o Example: In Labrador retrievers, coat color is influenced by two genes:
 The E gene (which allows pigment deposition) and the B gene (which determines the
color).
 If an individual is homozygous recessive for the E gene (ee), it will have a yellow
coat regardless of its B gene alleles (BB, Bb, or bb). The epistatic effect of the E gene
hides the expression of the B gene.
2. Dominant Epistasis:
o Definition: Here, the presence of a single dominant allele at the epistatic locus is sufficient to
mask the expression of alleles at the hypostatic locus.
o Example: In summer squash, the presence of the dominant allele W (white fruit) can mask the
expression of the B gene (which determines whether the fruit is yellow or green). Thus, both
WW and Ww individuals will have white fruit, regardless of their B gene alleles.
3. Duplicate Recessive Epistasis:
o Definition: In this type, two different genes can produce the same phenotype when both are
homozygous recessive.
o Example: In sweet peas, the color of flowers can be affected by two genes. If either gene is
homozygous recessive (aa or bb), the flowers will be white, masking the effects of the other
gene.
4. Complementary Epistasis:
o Definition: In this case, both genes must be dominant for the phenotype to be expressed. If
either gene is recessive, the phenotype will not be expressed.
 o Example: In certain plant species, flower color depends on two genes (A and B). Only when
both A and B are present in their dominant forms (A_B_) will the flowers display a specific
color. If either is homozygous recessive (aa or bb), the flowers will be of a different color.

Implications of Epistasis

1. Phenotypic Variation: Epistasis can lead to a wide range of phenotypic expressions, contributing to
diversity within populations.
2. Breeding Programs: Understanding epistatic interactions is crucial for plant and animal breeding, as it
can affect desired traits and complicate inheritance predictions.
3. Evolutionary Biology: Epistasis can influence evolutionary processes by affecting fitness and
adaptability, leading to complex relationships between traits.

Examples in Nature

 Color in Mice: In mice, coat color is influenced by multiple genes. The interaction between the agouti
gene and other pigment genes can lead to various color patterns.
 Flower Color in Pea Plants: The interaction between different flower color genes can produce a range
of colors depending on the specific alleles present

PLEIOTROPY

Pleiotropy is a genetic phenomenon where a single gene influences multiple phenotypic

traits. This means that one gene can have several effects on an organism’s phenotype, which
can complicate the relationship between genotype and phenotype.

Key Characteristics of Pleiotropy

1. Multiple Traits: A pleiotropic gene affects more than one trait, leading to a variety of
phenotypic outcomes that can be unrelated or only loosely connected.
2. Single Gene Influence: Despite influencing multiple traits, these effects stem from a single
gene, contrasting with polygenic traits, where multiple genes contribute to a single phenotype.
3. Variable Effects: The effects of pleiotropy can vary widely; some traits may be significantly
affected while others are only subtly influenced.

Examples of Pleiotropy

1. Sickle Cell Anemia:

o The sickle cell allele (HbS) causes red blood cells to take on a crescent shape under
low oxygen conditions. This single mutation leads to several effects: anemia,
increased susceptibility to infections, and pain crises due to blocked blood vessels.
Thus, one gene mutation has multiple health implications.
2. Phenylketonuria (PKU):
o PKU is caused by a mutation in the gene that encodes the enzyme phenylalanine
hydroxylase. Individuals with PKU cannot metabolize phenylalanine, leading to a
buildup that can cause intellectual disability, skin rashes, and other health issues.
Here, one gene defect affects multiple physiological functions.
The Chromosome Theory of Inheritance is a fundamental principle in genetics that explains how genes are
transmitted from parents to offspring through chromosomes. This theory integrates the concepts of
Mendelian inheritance with the understanding of chromosome behavior during meiosis and fertilization.

In the early 20th century, Morgan worked with fruit flies (Drosophila melanogaster) and demonstrated that
specific traits are associated with specific chromosomes. His experiments provided empirical evidence for the
linkage between chromosomes and genetic inheritance.

The Chromosomal Theory of Inheritance was consistent with Mendel‘s laws and was supported by the
following observations:

 During meiosis, homologous chromosome pairs migrate as discrete structures that are independent of other
chromosome pairs.
 The sorting of chromosomes from each homologous pair into pre-gametes appears to be random.
 Each parent synthesizes gametes that contain only half of their chromosomal complement.
 Even though male and female gametes (sperm and egg) differ in size and morphology, they have the same number of
chromosomes, suggesting equal genetic contributions from each parent.
 The gametic chromosomes combine during fertilization to produce offspring with the same chromosome number as their
parents

Key Components of the Chromosome Theory of Inheritance

1. Genes are Located on Chromosomes:

o The theory asserts that genes, which are the units of heredity, are physically
located on chromosomes. Each chromosome carries multiple genes, which are
arranged in a linear sequence.
2. Diploidy and Homologous Chromosomes:
o Most organisms (including humans) are diploid, meaning they have two sets
of chromosomes, one inherited from each parent. Each pair of chromosomes
consists of homologous chromosomes that carry genes for the same traits,
although they may have different alleles (versions of a gene).
3. Meiosis and Gamete Formation:
o During meiosis, the process of cell division that produces gametes (sperm and
eggs), homologous chromosomes are segregated into different gametes. This
results in each gamete receiving only one chromosome from each homologous
pair, ensuring that gametes are haploid (containing one set of chromosomes).
4. Mendel's Laws:
o The chromosome theory incorporates Mendel's principles:
 Law of Segregation: During gamete formation, the two alleles for a
gene segregate from each other so that each gamete carries only one
allele for each gene.
 Law of Independent Assortment: Genes for different traits are
inherited independently of one another, which occurs because different
pairs of homologous chromosomes assort independently during
meiosis.
5. Linkage and Genetic Mapping:
o The theory accounts for the phenomenon of genetic linkage, where genes
located close together on the same chromosome tend to be inherited together.
This led to the development of genetic mapping, allowing researchers to
 determine the relative positions of genes on chromosomes based on
recombination frequencies.

Mechanisms of Inheritance

1. Chromosomal Behavior During Meiosis:

o Meiosis consists of two rounds of cell division (meiosis I and meiosis II),
during which homologous chromosomes separate and then sister chromatids
separate, leading to the formation of four genetically unique haploid gametes.
o During meiosis, crossing over can occur, where segments of homologous
chromosomes are exchanged, increasing genetic variation among offspring.
2. Fertilization:
o When gametes fuse during fertilization, the resulting zygote restores the
diploid state, combining genetic material from both parents. The combination
of alleles inherited determines the genotype of the offspring.
SEX LINKED INHERITANCE
What Is Sex-linked Inheritance?
Sex-linked inheritance is a biological process which involves the transmission of traits or characters
from parents to offspring. X and Y are two sex chromosomes that carry alleles at their gene loci.
These traits that are being transferred from one generation to the next generation are present on
autosomes or sex chromosomes, i.e., the X chromosome or the Y chromosome.