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NOTES ON A2

CHAPTER-16 Inheritance

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A diploid cell has two complete sets of chromosomes (2n), which include the DNA
needed for protein synthesis and cell function. Most human cells are diploid,
containing 23 pairs of chromosomes, for a total of 46, in their nucleus.

Haploid cells contain a single set of chromosomes (n), which are half the number
found in diploid cells. In humans, haploid cells have 23 chromosomes and are known
as gametes, specifically the egg and sperm involved in sexual reproduction. The
terms haploidy and diploidy refer to the number of chromosome sets in a cell,
applicable across various species.

Homologous pairs of chromosomes

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Homologous chromosomes are pairs of chromosomes in diploid cells that share the
same characteristic shape, length, and centromere position, making them identifiable
in a photomicrograph. These chromosomes carry the same genes in the same
locations. During fertilization, a diploid zygote is formed, with one chromosome of
each homologous pair inherited from the female gamete and the other from the male
gamete. This similarity helps the chromosomes align properly during meiosis.

The Need for Reduction Division during Meiosis:

1. During fertilization, the nuclei of gametes fuse to form the zygote.

2. Gametes must have the correct number of chromosomes for the zygote to be
viable.
3. If the zygote has too many or too few chromosomes, it may not survive.
4. Gametes must be haploid (half the chromosome number) to form a diploid
zygote.
5. Meiosis produces haploid gametes during sexual reproduction.
6. The first division of meiosis is a reduction division, reducing chromosome
number.
7. In humans, the chromosome number is reduced from 46 (diploid) to 23
(haploid).
8. This reduction ensures the formation of haploid gametes, preventing
chromosome abnormalities in the zygote.

During meiosis in both plant and animal cells, the chromosomes and various cell
structures undergo distinct changes across two rounds of division: Meiosis I and
Meiosis II. Here's the behaviour of chromosomes and associated structures like the
nuclear envelope, cell surface membrane, and spindle during these stages:

Meiosis I

1. Prophase I:
o Chromosomes condense, becoming visible as distinct structures.
o Homologous chromosomes pair up (synapsis) and exchange genetic
material through crossing over.
o The nuclear envelope breaks down, and spindle fibers begin to form.
o In animal cells, centrioles move to opposite poles (plant cells lack
centrioles but form a spindle from other organizing centers).
2. Metaphase I:
o Homologous chromosome pairs align at the equator (metaphase plate)
of the cell.
o Spindle fibers attach to the centromeres of each chromosome.
o The nuclear envelope is completely gone.
3. Anaphase I:
o Homologous chromosomes are separated and pulled to opposite poles
by the spindle fibers.
o The cell surface membrane begins to elongate as the cell prepares to
divide.
4. Telophase I:
o Chromosomes reach the poles and may slightly de-condense.

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o In some organisms, the nuclear envelope may briefly reform around

the chromosomes at each pole.
o Cytokinesis (division of the cytoplasm) begins, leading to the
formation of two haploid cells.

Meiosis II

1. Prophase II:
o Chromosomes condense again, if they had relaxed in Telophase I.
o The nuclear envelope breaks down (if reformed), and spindle fibers
start forming.
2. Metaphase II:
o Chromosomes (now single chromosomes, not homologous pairs) line
up along the equator of the cell.
o Spindle fibers attach to the centromeres of the chromosomes.
o The nuclear envelope remains absent.
3. Anaphase II:
o The sister chromatids are separated and pulled to opposite poles by
the spindle fibers.
o The cell surface membrane starts to elongate again as the cell
prepares to divide.
4. Telophase II:
o Chromatids reach the poles and begin to de-condense.
o The nuclear envelope reforms around each set of chromosomes.
o Cytokinesis occurs, leading to the formation of four haploid daughter
cells, each with a single set of chromosomes.

In both plant and animal cells, the major structures like the spindle and nuclear
envelope behave similarly, but plant cells lack centrioles for organizing the spindle,
which is a key difference from animal cells.

During meiosis, two key processes—crossing over and random orientation (also
called independent assortment)—create genetic diversity in gametes.

1. Crossing over: In the early stages of meiosis (prophase I), homologous

chromosomes pair up, and sections of chromatids from these paired
chromosomes exchange segments. This process, known as crossing over,
results in a new combination of alleles on each chromosome. The genetic
material is shuffled between the chromosomes, producing chromatids that
carry unique genetic information, different from both parent cells.
2. Random orientation (independent assortment): During metaphase I of
meiosis, homologous chromosome pairs line up at the cell’s equator. The way
these pairs align is random, meaning each homologous pair can orient in
different directions independently of the others. This random orientation leads
to a variety of combinations of maternal and paternal chromosomes being
passed on to the gametes.

As a result of both processes—crossing over and random orientation—each gamete

formed during meiosis has a unique combination of genetic material, ensuring
genetic diversity in offspring.

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The random fusion of gametes during fertilization leads to genetically different

individuals because each gamete (sperm or egg) carries a unique combination of
genetic material. This uniqueness comes from the process of meiosis, where
homologous chromosomes are shuffled and randomly distributed into gametes.

When fertilization occurs, any sperm can fuse with any egg, creating countless
possible combinations of genetic material. This randomness ensures that each
zygote (fertilized egg) is genetically distinct from others, even among siblings,
leading to genetic diversity in a population.

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Key genetic terms:

1. Gene: A section of DNA that codes for a specific trait or protein.

2. Locus: The specific location or position of a gene on a chromosome.
3. Allele: Different versions or forms of a gene. For example, alleles can code
for different traits like blue or brown eyes.
4. Dominant: An allele that expresses its trait even if only one copy is present. It
"dominates" over the recessive allele.
5. Recessive: An allele that only expresses its trait when two copies are
present. It is masked by the dominant allele if only one copy is present.
6. Codominant: A situation where two alleles are equally expressed in the
phenotype. For example, in blood type AB, both A and B alleles are
codominant.
7. Linkage: When genes are located close to each other on the same
chromosome, they tend to be inherited together, which is known as genetic
linkage.

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8. Test Cross: A genetic cross between an individual with an unknown genotype

and a homozygous recessive individual to determine the unknown genotype
based on offspring traits.
9. F1: The first generation of offspring resulting from a cross between two parent
organisms (the parental generation).
10. F2: The second generation of offspring, produced by crossing two F1
individuals.
11. Phenotype: The physical expression or appearance of a trait, such as hair
color or height.
12. Genotype: The genetic makeup of an individual, which determines their
phenotype. It refers to the specific combination of alleles an organism carries.
13. Homozygous: Having two identical alleles for a particular gene (e.g., AA or
aa).
14. Heterozygous: Having two different alleles for a particular gene (e.g., Aa).

Monohybrid Crosses

A monohybrid cross involves the inheritance of a single gene with two alleles (e.g.,
A and a). The outcomes depend on the types of alleles present (dominant,
recessive, or codominant).

1. Dominance:
o Cross: AA (homozygous dominant) × aa (homozygous recessive)
o F1 Generation: All offspring are Aa (heterozygous) and will display the
dominant trait.
o F2 Generation: If two F1 individuals (Aa × Aa) are crossed, the
offspring will follow a 3:1 ratio (3 showing the dominant trait, 1 showing
the recessive trait).
o Phenotypic ratio: 3 dominant : 1 recessive
o Genotypic ratio: 1 AA : 2 Aa : 1 aa
2. Codominance:
o In codominance, both alleles are expressed equally in the phenotype.
o Example: Red flowers (R) × White flowers (W)
o F1 Generation: All offspring will have RW and show both red and white
traits (e.g., red and white spots).
o F2 Generation: When RW × RW, the phenotypic ratio will be 1 red : 2
red and white : 1 white.
o Phenotypic ratio: 1:2:1
3. Multiple Alleles:
o Some genes have more than two alleles, but an individual can only
inherit two alleles.
o Example: Human blood type has three alleles (IA, IB, and i), with IA
and IB codominant, while i is recessive.
o A cross between IAIB (type AB) and ii (type O) would yield offspring
with either blood type A (IAi) or B (IBi).

Dihybrid Crosses

A dihybrid cross involves two genes, each with two alleles (e.g., A/a and B/b), and
follows the inheritance of both traits.

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1. Dominance:
o Cross: AABB × aabb (homozygous for both traits)
o F1 Generation: All offspring will be AaBb (heterozygous for both traits).
o F2 Generation: Crossing F1 individuals (AaBb × AaBb) gives a
phenotypic ratio of 9:3:3:1.
 9 individuals express both dominant traits (A-B-),
 3 individuals express the first dominant and second recessive
(A-bb),
 3 individuals express the first recessive and second dominant
(aaB-),
 1 individual expresses both recessive traits (aabb).
2. Codominance in Dihybrid Cross:
o When both genes show codominance, the F2 generation phenotypes
will involve combinations of both traits being expressed.
o Example: In a dihybrid cross involving flower color and petal shape,
codominance in both traits would yield a 1:2:1 phenotypic ratio for each
trait individually, but overall the phenotypic possibilities will be more
varied.

Sex Linkage

 Sex-linked traits are associated with genes found on sex chromosomes,

particularly the X chromosome (e.g., color blindness or hemophilia in
humans).
 Example: Cross between a carrier female (XᴬXᵃ) and a normal male (XᴬY).
o F1 Generation: There is a 50% chance of producing daughters who are
carriers (XᴬXᵃ) and 50% chance of normal daughters (XᴬXᴬ). For sons,
there’s a 50% chance of being normal (XᴬY) and 50% chance of having
the sex-linked trait (XᵃY).
o Sex-linked traits often appear more frequently in males because they
only have one X chromosome, so a single recessive allele on the X
chromosome will cause the trait.

Dihybrid Crosses Involving Autosomal Linkage and Epistasis

In autosomal linkage, the phenotypic ratio will favor the parental types due to fewer
recombinants (expected ratio closer to 3:1).

In epistasis, the expected phenotypic ratios can deviate from the typical Mendelian
ratios, commonly resulting in a ratio such as 9:3:4, where the epistatic gene masks
the expression of another.

1. Autosomal Linkage

Autosomal linkage refers to genes that are located on the same chromosome and
tend to be inherited together. This linkage affects the expected phenotypic ratios in a
dihybrid cross.

 Example: Let’s consider two genes, A and B, located on the same

chromosome.

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o Alleles: A (dominant), a (recessive); B (dominant), b (recessive)

Parents:

 Parent 1: AABB (homozygous dominant for both traits)

 Parent 2: aabb (homozygous recessive for both traits)

F1 Generation:

 All offspring will be AaBb.

F2 Generation: When F1 individuals are crossed (AaBb × AaBb), without

recombination (assuming the genes are tightly linked), the expected gametes will
predominantly be AB and ab.

Using a Punnett square:

 Gametes from F1: AB, ab (since the genes are linked, fewer recombination
gametes like Ab and aB are produced)
 Expected Genotypes:
o AB AB
o ab ab
o Ab aB
o Ab aB

The expected offspring would show a phenotypic ratio closer to 3:1 for the dominant
and recessive traits when considering only the linked alleles, as the combinations A-
B- and a-b- will occur more frequently than the recombinant types.

Phenotypic Ratios for Linked Genes:

 If both dominant traits are linked together, the ratio of offspring in a typical
dihybrid cross may resemble:
o 3 (A-B-) : 1 (a-b-)
o The ratios of recombinant types (Ab and aB) will be much lower than
those of the parental types (AB and ab).

2. Epistasis

Epistasis occurs when one gene's expression affects the expression of another
gene, often leading to unexpected phenotypic ratios.

 Example of Epistasis:
o Consider two genes involved in coat color in mice:
 Gene A: Determines the presence of color (A: colored, a: no
color).
 Gene B: Determines the color (B: black, b: brown).
 Genotypes:
o AA or Aa will allow color expression, while aa will inhibit it regardless of
the B gene.
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Cross:

 Parent 1: AABb (colored, black)

 Parent 2: Aabb (colored, brown)

F1 Generation:

 All offspring will be AaBb (colored, as they carry at least one A allele).

F2 Generation: Crossing AaBb × AaBb will produce the following combinations:

 Possible Genotypes:
o AABB, AABb, AAbb, AaBB, AaBb, Aabb, aaBB, aaBb, aabb
 However, because of epistasis, the expression of color depends on the
presence of A and the B gene.

Expected Ratios:

 Typical Phenotypic Ratio (due to epistasis) will often be modified to a 9:3:4

ratio:
o 9 (colored black) : 3 (colored brown) : 4 (no color).
o This occurs because the aa genotype prevents any color from being
expressed.

Test Cross

 A test cross is a valuable tool for determining the genotype of an organism

displaying a dominant phenotype.
 The results help to clarify whether the dominant phenotype individual is
homozygous (AA) or heterozygous (Aa) based on the phenotypes of the
offspring produced:

 All offspring dominant phenotype: The individual is likely homozygous

(AA).
 1:1 ratio of dominant to recessive phenotypes: The individual is likely
heterozygous (Aa).

A test cross is a genetic cross used to determine the genotype of an individual

exhibiting a dominant phenotype.

This individual could either be homozygous dominant (e.g., AA) or heterozygous

(e.g., Aa). By crossing it with a homozygous recessive individual (e.g., aa), you can
analyze the offspring to infer the genotype of the dominant phenotype individual.

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Purpose of a Test Cross

The primary purpose of a test cross is to identify whether an individual expressing a

dominant trait is homozygous dominant or heterozygous.

Procedure of a Test Cross

1. Identify the Individual: Select an individual with the dominant phenotype

whose genotype is unknown (e.g., a plant with purple flowers).
2. Cross with Homozygous Recessive: Cross this individual with a
homozygous recessive individual (e.g., a plant with white flowers).
3. Analyze Offspring: Examine the phenotypes of the offspring produced from
this cross.

Predicted Results

1. If the Unknown Individual is Homozygous Dominant (AA):

o Cross: AA × aa
o Offspring Genotype: All offspring will be Aa (heterozygous).
o Offspring Phenotype: All offspring will exhibit the dominant phenotype
(e.g., purple flowers).
o Expected Ratio: 100% dominant phenotype.
2. If the Unknown Individual is Heterozygous (Aa):
o Cross: Aa × aa
o Offspring Genotype: The offspring will be in a 1:1 ratio:
 50% Aa (dominant phenotype)
 50% aa (recessive phenotype)
o Offspring Phenotype: Half will exhibit the dominant phenotype (e.g.,
purple flowers), and half will exhibit the recessive phenotype (e.g.,
white flowers).
o Expected Ratio: 50% dominant phenotype : 50% recessive
phenotype.

Chi-squared test (χ2)

The chi-squared test is a statistical method used to compare observed results with
expected results to determine if any differences are due to chance or if they are
statistically significant. This is commonly applied in genetics to test the significance
of deviations between observed and expected outcomes in genetic crosses.

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Steps to Perform a Chi-Squared Test:

1. Formulate a Hypothesis:
o Null Hypothesis (H0): There is no significant difference between
observed and expected results (i.e., any difference is due to chance).
o Alternative Hypothesis (H1): There is a significant difference between
observed and expected results.
2. Calculate Expected Values: Based on Mendelian ratios or any expected
ratio (e.g., a 3:1 ratio in monohybrid crosses).
3. Calculate Chi-Squared Value: Use the formula to compare observed (O) and
expected (E) values.
4. Degrees of Freedom (df):
o The degrees of freedom for the test is calculated as:

Where n is the number of different phenotypic categories.

5. Compare with the Critical Value: After calculating χ2, compare it with a
critical value from the chi-squared table, based on the degrees of freedom
and the chosen significance level (typically α=0.05).
6. Interpret the Results:
o If χ2 is less than the critical value, accept the null hypothesis
(differences are due to chance).
o If χ2 is greater than the critical value, reject the null hypothesis
(differences are significant).

Example:

Let's assume you conducted a dihybrid cross and the expected phenotypic ratio is
9:3:3:1. You observed the following results for four phenotypes:

 Observed (O):
o Phenotype 1: 90
o Phenotype 2: 30
o Phenotype 3: 35
o Phenotype 4: 10
 Expected (E) based on a 9:3:3:1 ratio:
o Phenotype 1: 84
o Phenotype 2: 28
o Phenotype 3: 28
o Phenotype 4: 9

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Using a chi-squared table, for df=3df = 3df=3 and α=0.05\alpha = 0.05α=0.05, the
critical value is 7.815. Since χ2=2.43\chi^2 = 2.43χ2=2.43 is less than the critical
value (7.815), we accept the null hypothesis. This means the differences between
the observed and expected results are due to chance.

Relationship between genes, proteins and phenotype

The relationship between genes, proteins, and phenotype is a fundamental concept

in genetics. Genes encode proteins, which in turn influence an organism's traits or
phenotype. Here’s how this relationship works in the context of the specified genes
and associated conditions:

1. TYR Gene, Tyrosinase, and Albinism

 TYR Gene: The TYR gene provides instructions for making the enzyme
tyrosinase. This enzyme is crucial for the production of melanin, the pigment
responsible for coloration in skin, hair, and eyes.
 Tyrosinase: Tyrosinase catalyzes the first steps in the melanin biosynthesis
pathway. It converts the amino acid tyrosine into DOPA and subsequently into
melanin.
 Phenotype - Albinism: Mutations in the TYR gene can lead to reduced or
absent tyrosinase activity, resulting in albinism. Individuals with albinism have
little or no melanin, leading to lighter skin, hair, and eyes. The absence of
melanin can also affect vision and increase susceptibility to sunburn and skin
cancer.

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2. HBB Gene, Hemoglobin, and Sickle Cell Anemia

 HBB Gene: The HBB gene encodes the beta-globin subunit of hemoglobin,
the protein in red blood cells that carries oxygen.
 Hemoglobin: Hemoglobin is a tetramer made up of two alpha and two beta
subunits (α2β2). It binds oxygen in the lungs and releases it in the tissues.
 Phenotype - Sickle Cell Anemia: A specific mutation in the HBB gene
causes sickle cell anemia. This mutation changes a single amino acid in the
beta-globin chain from glutamic acid to valine, leading to the production of
abnormal hemoglobin (hemoglobin S). Under low oxygen conditions,
hemoglobin S aggregates, causing red blood cells to become rigid and sickle-
shaped. These deformed cells can block blood flow, leading to pain, anemia,
and increased risk of infections.

3. F8 Gene, Factor VIII, and Hemophilia A

 F8 Gene: The F8 gene encodes factor VIII, a key protein involved in the
blood coagulation cascade.
 Factor VIII: Factor VIII is essential for the activation of factor X, which plays a
crucial role in blood clotting. It helps convert prothrombin to thrombin, leading
to the formation of a fibrin clot.
 Phenotype - Hemophilia A: Mutations in the F8 gene can lead to hemophilia
A, a bleeding disorder characterized by insufficient levels of factor VIII.
Individuals with hemophilia A may experience prolonged bleeding, easy
bruising, and joint problems due to bleeding into joints. The severity of
hemophilia A varies depending on the specific mutation and residual factor
VIII activity.

4. HTT Gene, Huntingtin, and Huntington’s Disease

 HTT Gene: The HTT gene encodes the protein huntingtin.

 Huntingtin: The exact function of huntingtin is not fully understood, but it is
involved in various cellular processes, including intracellular transport,
synaptic function, and cell survival.
 Phenotype - Huntington’s Disease: A specific mutation in the HTT gene,
characterized by an expanded CAG repeat, leads to the production of an
abnormally long huntingtin protein. This mutated protein is toxic to neurons,
leading to progressive neurodegeneration. Individuals with Huntington’s
disease experience movement disorders, cognitive decline, and psychiatric
symptoms, typically starting in mid-adulthood.

Role of Gibberellin in Stem Elongation

Gibberellins are a class of plant hormones that play a crucial role in various aspects
of plant growth and development, including stem elongation. Understanding the role
of gibberellin in stem elongation involves examining the genetic basis of gibberellin
synthesis, specifically focusing on the alleles that influence this process.

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1. Gibberellin Production: Gibberellins are synthesized in the plant's shoot tips,

seeds, and young leaves. They promote cell elongation by triggering various
growth-related processes.
2. Cell Elongation: Gibberellins stimulate cell division and elongation in the
stem by loosening the cell walls. This process allows cells to take up more
water and elongate, leading to overall stem growth.
3. Mechanism of Action: Gibberellins regulate gene expression and activate
enzymes responsible for breaking down cell wall components, promoting cell
expansion. They also influence the synthesis of proteins that contribute to the
growth process.

Genetic Basis of Gibberellin Synthesis

The synthesis of gibberellins in plants is genetically regulated, and specific alleles of

the genes involved in this pathway can significantly affect stem elongation.

1. Dominant Allele (Le):

o The Le allele codes for a functional enzyme in the gibberellin
synthesis pathway.
o Plants with at least one dominant Le allele can produce gibberellins
effectively, leading to normal stem elongation and overall growth.
2. Recessive Allele (le):
o The le allele codes for a non-functional enzyme, resulting in reduced
or absent gibberellin production.
o Plants homozygous for the recessive le allele (i.e., le le) have impaired
gibberellin synthesis, leading to stunted growth and shorter stems due
to the inability to promote cell elongation.

Genotypic Effects on Phenotype

 Homozygous Dominant (Le Le): Plants with this genotype produce normal
levels of gibberellins, resulting in tall, elongated stems.
 Heterozygous (Le le): These plants also produce functional gibberellins,
leading to normal stem elongation, similar to the homozygous dominant
plants.
 Homozygous Recessive (le le): These plants cannot produce functional
gibberellins, leading to a dwarf phenotype with significantly shorter stems.

Summary

 Gibberellins are vital hormones for stem elongation in plants.

 The Le allele encodes a functional enzyme in the gibberellin synthesis
pathway, allowing for normal gibberellin production and stem growth.
 The le allele produces a non-functional enzyme, leading to impaired
gibberellin synthesis and stunted growth.
 The presence of the dominant Le allele is crucial for promoting stem
elongation, while the recessive le allele leads to reduced plant height due to
the lack of gibberellins.

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Gibberellin (GA) release in plants is triggered by

a variety of environmental and internal factors
that signal the plant to grow and develop. Here
are some key triggers for gibberellin release:

1. Light

 Photoreception: The presence of light, particularly blue light, can trigger

gibberellin synthesis. Light conditions influence the plant's growth, and
gibberellins play a role in promoting stem elongation and leaf expansion in
response to light.
 Phytochromes: These are light-sensitive proteins that detect light and
regulate plant responses. When exposed to light, phytochromes can activate
gibberellin biosynthesis, especially during seed germination and in phototropic
responses (growth towards light).

2. Water Availability

 Seed Germination: Water uptake during seed imbibition stimulates

gibberellin release, which promotes the growth of the embryo and the
breaking of dormancy.
 Hydration: In dehydrated conditions, plants may also produce gibberellins to
promote growth once water becomes available again.

3. Temperature

 Thermal Cues: Certain temperature conditions can trigger gibberellin

production. For example, during the spring (warmer temperatures),
gibberellins can promote growth as plants emerge from dormancy.
 Cold Stratification: Some seeds require exposure to cold temperatures to
break dormancy, which can be associated with increased gibberellin levels
upon warming.

4. Mechanical Stress

 Thigmomorphogenesis: Physical stimulation or mechanical stress (e.g.,

wind, touch) can lead to increased gibberellin production, promoting stem
elongation to reduce the impact of stress on the plant structure.

5. Nutrient Availability

 Nutrients: Adequate levels of nutrients, particularly nitrogen, can stimulate

gibberellin production. Nutrient availability is critical for growth, and
gibberellins help in mobilizing resources for growth processes.

6. Hormonal Interactions

 Auxins: Gibberellins often work in conjunction with other plant hormones like
auxins. The interplay between these hormones can trigger gibberellin release,
especially during processes like stem elongation and fruit development.

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 Cytokinins: These hormones, involved in cell division and growth, can also
influence gibberellin synthesis and release, creating a hormonal balance for
growth.

7. Developmental Signals

 Embryo Development: During seed development, gibberellins are produced

in the embryo, which promotes the growth of the seedling upon germination.
 Flowering: Gibberellins are involved in the flowering process and can be
triggered by specific developmental cues, leading to the release of
gibberellins to promote flowering and fruit development.

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Differences between structural genes and regulatory genes

Category Structural Genes Regulatory Genes

Segments of DNA that code for
Definition Segments of DNA that encode proteins. proteins that control gene
expression.
Produce proteins involved in cellular Control the expression of structural
Function
structure and function. genes and other regulatory genes.
Genes coding for hemoglobin, enzymes like Genes that produce transcription
Examples
amylase, structural proteins like collagen. factors, such as the lac repressor.

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Differences between repressible enzymes and inducible enzymes

Category Repressible Enzymes Inducible Enzymes

Enzymes whose expression can be
Enzymes whose expression can be
Definition activated by a specific substrate or
inhibited by a specific molecule.
signal.
Inhibition occurs when the end product Activation occurs when an inducer
Mechanism binds to a repressor, preventing binds to a repressor, preventing it from
transcription. inhibiting transcription.
Tryptophan operon in bacteria: high Lac operon in E. coli: lactose presence
Example tryptophan levels activate the repressor binds to the repressor, allowing
to shut down gene expression. expression of lactose metabolism genes.

The lac operon

The lac operon is a well-studied example of genetic control of protein production in

prokaryotes, specifically in Escherichia coli (E. coli). It illustrates how bacteria can
regulate the expression of genes in response to environmental changes, particularly
in relation to the availability of lactose as a carbon source. Here’s an explanation of
how the lac operon operates:

Components of the Lac Operon

1. Structural Genes: The lac operon consists of three structural genes:

o lacZ: Encodes the enzyme β-galactosidase, which breaks down
lactose into glucose and galactose.
o lacY: Encodes lactose permease, a membrane protein that facilitates
the transport of lactose into the cell.
o lacA: Encodes thiogalactoside transacetylase, which has a less
well-understood role, but it is involved in detoxifying certain
compounds.
2. Regulatory Elements:
o Promoter (P): The site where RNA polymerase binds to initiate
transcription of the lac operon genes.
o Operator (O): A DNA sequence located between the promoter and the
structural genes, where the repressor protein binds.
o Regulatory Gene (lacI): Codes for the lac repressor, a protein that
can bind to the operator and inhibit transcription of the structural genes.

Mechanism of the Lac Operon

1. Presence of Lactose:
o When lactose is available in the environment, some of it is converted to
allolactose inside the cell. Allolactose acts as an inducer.
2. Binding of the Inducer:
o Allolactose binds to the lac repressor protein produced by the lacI
gene. This binding changes the conformation of the repressor,
preventing it from binding to the operator region of the DNA.
3. Transcription Activation:

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o With the repressor unable to bind to the operator, RNA polymerase can
now access the promoter region and initiate transcription of the
structural genes (lacZ, lacY, and lacA). This leads to the production of
the corresponding enzymes.
4. Lactose Metabolism:
o The enzymes produced from the operon allow the bacterium to import
lactose into the cell and metabolize it, providing an energy source
when glucose is not available.

Absence of Lactose

1. Repressor Binding:
o When lactose is not present in the environment, the lac repressor
remains unbound. The repressor protein binds to the operator region of
the DNA.
2. Inhibition of Transcription:
o The binding of the repressor to the operator blocks RNA polymerase
from transcribing the structural genes. As a result, the production of β-
galactosidase and lactose permease is greatly reduced, conserving
cellular resources.

Summary of the Lac Operon Function

 Induction: In the presence of lactose, the lac operon is induced, allowing for
the transcription and production of enzymes necessary for lactose
metabolism.
 Repression: In the absence of lactose, the operon is repressed, preventing
unnecessary production of enzymes.

The lac operon serves as a prime example of negative regulation in prokaryotic

gene expression. It demonstrates how bacteria can efficiently adapt to their
environment by controlling the production of specific proteins based on the
availability of substrates. This mechanism allows prokaryotes to conserve energy
and resources by only expressing genes when their products are needed.

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https://www.khanacademy.org/science/ap-biology/gene-expression-and-regulation/regulation-of-gene-expression-and-
cell-specialization/a/the-lac-operon

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Transcription Factors

Definition: transcription factors are proteins that bind to DNA and are involved in the
control of gene expression in eukaryotes by decreasing or increasing the rate of
transcription.

They play a crucial role in the control of gene expression.

Types of Transcription Factors:

1. General Transcription Factors:

o Required for the transcription of all genes.
o Help RNA polymerase bind to the promoter region of DNA.
o Examples include TFIID(Transcription Factor II D) and
TFIIB(Transcription Factor II B).
2. Specific Transcription Factors:
o Regulate the expression of specific genes.
o Can act as activators or repressors.
o They bind to enhancers or silencers located near the target genes.

Mechanism of Action:

1. Binding to DNA:
o Transcription factors recognize specific DNA sequences in the
promoter or enhancer regions.
o They often contain DNA-binding domains that facilitate this interaction.
2. Recruitment of RNA Polymerase:
o Activators enhance the assembly of the transcription machinery.
o Repressors may block RNA polymerase from binding or hinder the
formation of the transcription complex.
3. Modulation of Chromatin Structure:
o Some transcription factors can recruit co-activators or co-repressors
that modify histones and alter chromatin structure, making it more or
less accessible for transcription.

Examples:

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 NF-κB: Involved in inflammatory responses.

 p53: A tumor suppressor that regulates the cell cycle and prevents cancer
formation.
 Myc: An oncogene that promotes cell growth and division.

Regulation of Transcription Factors:

 Post-translational Modifications: Phosphorylation, acetylation, and

ubiquitination can affect their activity.
 Signaling Pathways: Extracellular signals can activate or deactivate
transcription factors.
 Interactions with Other Proteins: They may form complexes with other
proteins that modulate their function.

Importance in Biology:

 Cell Differentiation: Transcription factors are essential for the specialization

of cells during development.
 Response to Environmental Signals: They allow cells to respond to
changes in their environment by altering gene expression.
 Disease Mechanisms: Mutations in transcription factors can lead to
diseases, including cancer and genetic disorders.

Transcription factors are crucial in the regulation of gene expression in eukaryotes.

They control when, where, and how much specific genes are expressed by
interacting with DNA, RNA polymerase, and other proteins involved in transcription.
Here’s a detailed overview, including the roles of gibberellin and DELLA protein
repressors in plants:

Transcription Factors in Eukaryotes

1. General Function:
o Transcription factors bind to specific DNA sequences in gene
promoters and enhancers.
o They can act as activators, promoting transcription, or repressors,
inhibiting it.
o They interact with RNA polymerase to facilitate or obstruct the initiation
of transcription.
2. Structure:
o Most transcription factors have distinct DNA-binding domains that
recognize specific motifs in the DNA.
o They often have activation domains that interact with the transcription
machinery.
3. Regulatory Elements:
o Promoters: Sites where RNA polymerase and transcription factors
bind to initiate transcription.
o Enhancers: Distal regulatory sequences that can enhance
transcription levels when bound by specific transcription factors.
o Silencers: Regions that can inhibit transcription when bound by
repressor proteins.

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Gibberellin and DELLA Proteins in Plants

Gibberellin (GA):

 Gibberellins are plant hormones that promote growth and development,

including seed germination, stem elongation, and flowering.
 GA acts as a signaling molecule, triggering the expression of genes
necessary for these processes.

DELLA Proteins:

 DELLA proteins are a group of growth-repressing proteins that inhibit GA

responses.
 They act as negative regulators of transcription by binding to transcription
factors and preventing them from activating their target genes.

Mechanism of Action

1. Gibberellin Signaling:
o In the presence of gibberellin, the hormone binds to a GID1 receptor.
o This interaction leads to the degradation of DELLA proteins via the
ubiquitin-proteasome pathway.
2. Release of Transcription Factors:
o Once DELLA proteins are degraded, transcription factors that were
previously inhibited can now bind to target genes.
o This allows the expression of genes that promote growth and
developmental processes.
3. Activation of Gene Expression:
o The liberated transcription factors activate genes involved in growth,
such as those coding for enzymes that break down stored food
reserves during seed germination.

Summary of Interaction:

 Gibberellin stimulates growth by promoting the degradation of DELLA

proteins, thereby allowing transcription factors to activate growth-related
genes.
 The balance between gibberellin and DELLA proteins illustrates how plants
integrate hormonal signals with gene expression to regulate growth and
development.

This interplay between gibberellin and DELLA proteins is a key example of how
transcription factors are tightly regulated in response to environmental and internal
signals, enabling precise control of gene expression in plants.

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EXTRA

1. Describe the differences in structure and control between the lac operon and the
trp operon.

Feature Lac Operon Trp Operon

trpR: codes for an inactive
Regulatory Gene lacI: codes for an active repressor
repressor
Attenuator Does not have an attenuator Has an attenuator
Number of
Structural Fewer structural genes (3) More structural genes (5)
Genes
Control
Uses an inducer (allolactose) Uses a repressor (tryptophan)
Mechanism
Allolactose binds/inactivates the Tryptophan binds/activates the
Repressor
repressor, allowing it to leave the repressor, enabling it to bind to
Interaction
operator the operator
Gene Expression Allolactose causes genes to be Tryptophan causes genes to not be
Outcome transcribed/expression transcribed/not expressed

Feature Lac Operon Trp Operon

Regulates the metabolism of lactose Regulates the synthesis of
Function
when it is present. tryptophan when it is deficient.
Contains three genes: lacZ (β- Contains five genes: trpE, trpD,
Structural
galactosidase), lacY (lactose permease), trpC, trpB, trpA, which are involved
Genes
lacA (thiogalactoside transacetylase). in the biosynthesis of tryptophan.
lacI: codes for the lac repressor, which trpR: codes for the trp repressor,
Regulatory
inhibits transcription in the absence of which inhibits transcription in the
Gene
lactose. presence of tryptophan.
Inducible System: Transcription is Repressible System: Transcription
Control
activated in the presence of lactose is inhibited when tryptophan levels
Mechanism
(inducer) by inactivating the repressor. are high by activating the repressor.
The repressor binds to the operator
The repressor binds to the operator when
when tryptophan is present, blocking
lactose is absent, blocking transcription.
Repressor transcription. When tryptophan
When lactose (as allolactose) is present,
Action levels are low, the repressor is
it binds to the repressor, preventing it
inactive and does not bind to the
from binding to the operator.
operator.
Repressed by the presence of
Induced by the presence of lactose, tryptophan, preventing the synthesis
Response to
which allows the enzymes for lactose of enzymes for tryptophan
Substrate
metabolism to be produced. production when sufficient levels are
present.

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Feature Lac Operon Trp Operon

No direct feedback inhibition; the Feedback inhibition: High levels of
Feedback presence of lactose leads to enzyme tryptophan directly inhibit the
Mechanism production only when lactose is synthesis of its own production by
available. activating the repressor.

2. Outline how gibberellin is involved in activating genes for stem elongation.

DELLA proteins inhibit the activation of genes responsible for stem elongation by
binding to transcription factors. When gibberellin binds to receptors on the cell
surface membrane, it triggers the breakdown of DELLA proteins. This degradation
allows transcription or gene expression to occur, leading to the activation of genes
involved in stem growth. Additionally, gibberellin facilitates the action of transcription
factors, such as PIF (Phytochrome Interacting Factor), further promoting mRNA
synthesis and the subsequent production of proteins necessary for stem elongation.

3. Outline the role played by gibberellin in the germination of wheat seeds

When a seed absorbs water, the embryo produces gibberellin, which then stimulates
the aleurone layer. This layer responds by producing amylase, an enzyme that
hydrolyzes starch in the endosperm into maltose and glucose. The embryo uses
these sugars for respiration and growth. Additionally, gibberellins influence gene
expression, promoting the synthesis of mRNA that codes for amylase, thereby
enhancing the breakdown of starch to support the embryo's development.

4. Explain why some genes show constitutive expression.

gene products / enzyme / protein, needed all the time

5. Describe the effect of the product of gene I on the functioning of the lac
operon.

The repressor protein binds to the operator, blocking the promoter and preventing
RNA polymerase from binding to it. As a result, there is no transcription or
expression of the associated structural genes, leading to a lack of mRNA synthesis.

6. Why structural genes in operons are transcribed together.

Multiple genes share one promoter, allowing all the associated enzymes, proteins, or
products to be co-regulated and work together in a coordinated manner.

7. trpA is an example of a structural gene and trpR is an example of a

regulatory gene.

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8. Describe the differences between the functions of structural genes and

regulatory genes.

Structural genes code for enzymes, structural proteins, non-regulatory proteins,

rRNA, and tRNA, while regulatory genes code for proteins that control gene
expression and transcription, including transcription factors and repressor proteins.

9. trpA codes for the enzyme tryptophan synthase.

Tryptophan synthase catalyses the formation of the amino acid tryptophan.

Explain why tryptophan synthase is an example of a repressible enzyme.

End-product inhibition occurs when tryptophan binds to and activates the repressor,
allowing it to attach to the operator. This action stops or reduces the transcription of
the trpA gene, leading to decreased gene expression and preventing the synthesis of
tryptophan synthase.

10. Describe the functions of lacZ, lacY, and lacA

Gene Function
Encodes β-galactosidase, an enzyme that hydrolyzes lactose into glucose
lacZ
and galactose, facilitating the utilization of lactose as an energy source.
Encodes lactose permease, a membrane transport protein that facilitates the
lacY uptake of lactose into the bacterial cell, allowing it to enter the cell for
metabolism.
Encodes thiogalactoside transacetylase, an enzyme that is involved in the
lacA detoxification of certain byproducts of lactose metabolism, although its exact
function in lactose metabolism is less well-defined compared to lacZ and lacY.

 lacZ: Hydrolyzes lactose.

 lacY: Transports lactose into the cell.
 lacA: Detoxifies byproducts related to lactose metabolism.

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