Unit 2_Gene and Allele Interaction

Dominance and Recessiveness

Dominance and recessiveness describe how alleles, the different versions of a gene, interact
to determine an individual's traits. A dominant allele expresses its trait even if only one copy
is present, masking the effect of the recessive allele. A recessive allele only expresses its trait
when two copies are present, meaning an individual must inherit two recessive alleles for the
trait to appear. This is why some traits, like brown eyes, are more common, while others, like
blue eyes, require specific genetic combinations to be visible.
DOMINANCE
 Definition:
A dominant allele's trait is always observed if at least one copy of that allele is inherited.
 Genetic Makeup:
An individual will display the dominant trait if they have two dominant alleles (e.g., BB) or
one dominant and one recessive allele (e.g., Bb).
 Example:
If the allele for brown eyes is dominant, a person with one brown-eye allele and one blue-eye
allele will have brown eyes.
Recessiveness
 Definition:
A recessive allele only expresses its trait when both alleles in the pair are recessive.
 Genetic Makeup:
An individual must inherit two copies of the recessive allele (e.g., bb) to display the recessive
trait.
 Example:
If the allele for blue eyes is recessive, only a person with two blue-eye alleles (bb) will have
blue eyes.
 Carriers:
An individual with one dominant and one recessive allele (e.g., Bb) is a carrier of the
recessive trait but does not express it, as the dominant allele masks its effect.
Incomplete dominance is a pattern of inheritance where the heterozygous offspring has a
phenotype that is a blend or intermediate of the two homozygous parent phenotypes, such as
a pink snapdragon flower from a cross between red and white flowers. Codominance is a
pattern of inheritance where both alleles are fully and simultaneously expressed in the
heterozygous offspring, resulting in a phenotype that shows both parental traits, like the AB
blood type where both A and B antigens are present on red blood cells.
 Incomplete Dominance/ Semi Dominance
 Definition:
In this type of inheritance, the dominant allele does not completely mask the recessive allele's
effect. Instead, the heterozygous individual's phenotype is an intermediate blend of the two
homozygous phenotypes.
 Example:
A classic example is snapdragons: a cross between a red-flowered snapdragon and a white-
flowered snapdragon results in offspring with pink flowers.

Codominance
 Definition:
In codominance, both alleles are fully expressed and visible simultaneously in the
heterozygote. Neither allele is dominant over the other; they are both equally expressed.
 Example:
The ABO blood group system in humans provides an excellent example. Individuals with the
AB blood type express both the A and B antigens on their red blood cells because the IA and
IB alleles are codominant.
Difference Between Complete Dominance, Incomplete Dominance, and Codominance
Sometimes, it is helpful to compare all three inheritance patterns side by side:

Complete Dominance:
The dominant allele completely covers up the recessive allele.
The recessive trait remains unseen in heterozygotes.
Example: In peas, the purple flower colour is completely dominant over white.

Incomplete Dominance:
The dominant allele partially masks the recessive allele.
The offspring blend traits of both parents (pink flowers in snapdragons).

Codominance:
No allele hides the other.
The offspring show both traits separately (AB blood group).
 Pleiotropy
The history of pleiotropy began with observations by Gregor Mendel in the 1860s, but the
term was formally coined by German geneticist Ludwig Plate in 1910. Plate defined it as one
gene affecting multiple traits, a concept later supported and elaborated upon by other
scientists like Hans Grüneberg, who distinguished between "genuine" and "spurious"
pleiotropy in 1938. Pleiotropy is a genetic phenomenon where a single gene influences
multiple, seemingly unrelated phenotypic traits. A classic example is phenylketonuria (PKU),
a disorder caused by a mutation in one gene that leads to intellectual disability, behavioral
problems, and lighter skin, among other issues.
 Definition:
A single gene controls two or more different characteristics or traits in an organism.
 Etymology:
The word comes from Greek, where "pleio" means "many" and "tropic" means "turning" or
"changing," signifying one gene having many effects.
 Mechanism:
A pleiotropic gene produces a protein that is used in various parts of the body, so a defect in
that one gene can impact multiple functions and traits.
 Examples:
 PKU: A single gene mutation affects the metabolism of phenylalanine, leading to multiple
symptoms like intellectual disability and light skin.
 Pea plants: Gregor Mendel noted a gene for flower color also affected seed coat color and
the dark spots on leaf axils.
 Sickle cell anemia: A mutation in a single gene leads to a change in the shape of red blood
cells, which can cause a variety of issues throughout the body.
MULTIPLE ALLELISM
Multiple allelism is the phenomenon where a single gene has more than two alternative
forms, or alleles, within a population. While an individual organism can only have two alleles
for a given gene (one from each parent), multiple alleles in the population allow for a wider
variety of traits. A common example is the ABO blood group system in humans, which has
three alleles

More than two alleles:

A single gene in the population has three or more different alleles.

 Same locus:

All alleles for a given gene are found at the same position (locus) on homologous
chromosomes.

 Population-level trait:

Multiple allelism is a characteristic of a population, not a single individual, as any

diploid organism can only have two alleles at a time.

 Variety of phenotypes:

This phenomenon can lead to a greater diversity of phenotypes in a population

Examples

 ABO blood groups:

 Coat color in rabbits:
 Eye color in Drosophila:
 PSEUDOALLELES
Pseudoalleles are two or more distinct genes located very close to each other on a
chromosome, so close that they are almost always inherited together due to genetic
linkage. Because these genes have similar functions and affect the same character, they can
appear to act as multiple alleles of a single gene. While they are typically inherited as a unit, a
rare crossing-over event between them can separate them, proving they are different genes.
 Genetic linkage:
Pseudoalleles are tightly linked genes, meaning they are physically close on the same
chromosome and are inherited together most of the time.
 Similar function:
They control the same or a related character, which is why they can be mistaken for multiple
alleles of the same gene.
 Formation:
They are often thought to originate from a gene duplication event, where a gene is copied and
then the copies diverge in function over time.
 Recombination:
Unlike true alleles, pseudoalleles can be separated through a rare crossing-over event during
meiosis. This recombination proves they are distinct genes.
 Examples:
Pseudoalleles have been studied in organisms like the fruit fly Drosophila, where mutations
affecting eye color (like the "white-eye" locus) exhibit this behavior.
Essential genes are those crucial for an individual's survival or reproduction, while lethal
genes (or lethal alleles) are specific gene variants that cause an organism's death when
expressed under certain conditions. Essentially, if a normal, functional gene is essential for
life, a mutation in that gene can create a lethal allele, leading to a lethal gene that causes
death.
 ESSENTIAL GENES
 Definition:
Genes whose normal function is absolutely required for the survival and viability of an
organism.
 Function:
They are involved in fundamental cellular processes necessary for growth and development.
 Identification:
Often identified by observing that loss of their function leads to death or severe loss of
fitness.
LETHAL GENES (LETHAL ALLELES)
 Definition:
Gene variants that cause the death of an organism carrying them.
 Relationship to Essential Genes:
Lethal genes are typically a result of mutations in essential genes. When the normal allele of
an essential gene is mutated into a non-functional or harmful form, that mutated allele can
become a lethal allele.
 Types:
 Dominant Lethal: A single copy of the allele is sufficient to cause death.
 Recessive Lethal: Two copies of the allele are required for the lethal effect.
 Conditional Lethal: The gene causes death only under specific environmental conditions,
such as a particular temperature.
 Timing of Death:
Lethal alleles can cause death at any point in an organism's life, but this most commonly
occurs during early development.
In Summary
 Essential genes are the necessary components for life.
 Lethal genes are harmful variants of these essential genes that make survival impossible
 PENETRANCE and EXPRESSIVITY
Penetrance and expressivity are two measures of how genetic variation leads to observable
traits. Penetrance is the proportion of individuals with a specific genotype who show the
associated phenotype, while expressivity is the degree or range of the phenotype's expression
in individuals who do have the trait. Penetrance answers whether a trait appears, and
expressivity describes the variation in severity or form of that trait.

PENETRANCE
 Definition:
The probability that a person with a specific genotype will show the associated phenotype.
 Types:
 Complete penetrance: 100% of individuals with the genotype express the phenotype.
 Incomplete penetrance: Only a percentage of individuals with the genotype express the
phenotype. For example, if only 50% of individuals with the gene show the trait, it has 50%
penetrance.

EXPRESSIVITY
 Definition:
The variation in the degree or intensity of the phenotype in individuals who have the
genotype.
 Range:
It can range from minimal to severe, or it can result in a wide spectrum of symptoms.
 Example:
The "eyeless" gene in flies can result in normal eyes to a complete absence of eyes in
different individuals, which is variable expressivity.
 NON-ALLELIC GENE INTERACTION
Non-allelic gene interaction is when two or more different genes, located on the same or
different chromosomes, work together to determine a single trait, deviating from the
Mendelian principle of one gene-one trait. Examples include epistasis, where one gene masks
another, and complementary gene action, where both genes are required for the trait to be
expressed.

Characteristics of non-allelic gene interaction

 Interaction between different genes: Unlike allelic interactions (which occur between
different versions of the same gene), non-allelic interactions involve two entirely separate
genes.
 Location: These genes can be on the same chromosome or on different chromosomes.
 Modified phenotypic ratios: These interactions cause a modification of the standard
Mendelian phenotypic ratios, such as the 9:3:3:1 ratio seen in dihybrid crosses.

Types of non-allelic gene interactions

[Link]:
One gene masks the effect of another gene.
 Recessive epistasis: A homozygous recessive genotype at one locus masks the expression of
alleles at another locus.
 Dominant epistasis: A dominant allele at one locus masks the effect of alleles at another
locus.

[Link] genes:
Both genes have a dominant allele, and both dominant alleles are required for the expression
of the trait. The phenotypic ratio is typically 9:7.
 Duplicate genes:
The dominant allele of either gene can produce the same phenotype. The phenotypic ratio is
typically 15:1.
 Supplementary genes:
A dominant allele from the first gene is required for the second gene to express itself. The
phenotypic ratio is typically 9:3:4 or 9:6:1.