INDEX

Sl Topic Name Page

No. No.
1. Introduction 2
2. Chromosomal organisation of gene 3
3. Chromosome and their structure 4
4. Nucleosome and chromosome 6
components
5. DNA replication 7
6. Transcription 15
7. Type of RNA 17
8. Genetic code 19
9. Codons and Translation 21
10. Character of genetic code 23
11. Conclusion 24

1
Introduction

Genes are segments of DNA that encode instructions for

the production of proteins, which are the functional and
structural molecules of living cells. The process of gene
expression involves several steps, including chromosomal
organization, DNA replication, transcription, and the use of
the genetic code to synthesize proteins. Each of these
processes is critical for the proper functioning of cells and
for the inheritance of traits from one generation to the next.
Gene action refers to the mechanism through which a gene
exerts its influence on a particular phenotypic trait. For
example, if an allele of a gene combines with another allele
of the gene to produce an effect that is qualitatively different
from the effect produced by either of the genes acting
alone, these alleles of the gene are said to exhibit
complementary gene action. For example, if a genetic trait
exhibits codominance by its different alleles, they can
exhibit combined traits. This is illustrated by the ABO blood
group genetic alleles for blood types (see figure).

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I. Chromosomal Organization of Genes

The genes on each chromosome are arranged in a

particular sequence, and each gene has a particular
location on the chromosome (called its locus). The form
of the gene that occupies the same locus on each
chromosome of a pair (one inherited from the mother
and one from the father) is called an allele.
Here are some ways that genes are organized in
chromosomes:

Compartmental segregation

In interphase nuclei, transcriptionally active euchromatin

and largely silent heterochromatin are separated
spatially.

Topological domains

Chromosomes are organized into topologically

associating domains (TADs), which are separated by
domain boundaries.

Acrocentric chromosomes

These chromosomes have a centromere that is offset

from the center, resulting in one very long strand and
one very short strand. Human chromosomes 13, 15, 21,

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and 22 are acrocentric. Highly repetitive sequences
About 3% of the human genome is made up of highly
repetitive sequences, also known as simple-sequence
DNA or simple sequence repeats (SSR).

Satellite DNA

These are short sequences that form very large clusters.

Chromosomes carry genes, which are the functional

units of heredity. A gene is a segment of DNA that
contains the instructions for making a protein or a set of
closely related proteins.

1. Chromosomes and their Structure

Chromosomes are structures made of DNA and proteins

found in the nucleus of eukaryotic cells. DNA within a
chromosome is organized and packaged tightly with
proteins called histones, forming a complex known as
chromatin. Chromosomes carry the genetic material
(genes) that determines the traits of an organism.

Human Chromosomes: Humans have 46 chromosomes,

arranged in 23 pairs. One set comes from the mother and
one from the father. These chromosomes include 22 pairs
of autosomes and 1 pair of sex chromosomes (XX for
females, XY for males).

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2. Chromatin Structure

DNA wraps around histone proteins to form nucleosomes,

which are the fundamental units of chromatin. This compact
structure helps in organizing the long DNA strands into a
manageable form within the cell.

Euchromatin: This is a less condensed form of chromatin,

where active genes are located. These regions are
accessible to the cellular machinery required for
transcription.

Heterochromatin: This is a tightly packed form of chromatin,

where genes are generally inactive or silent. It plays a role

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in maintaining the structure of the chromosome and
regulating gene expression.

3. Nucleosomes and Chromosome Components

A nucleosome consists of DNA coiled around histone

proteins, providing the first level of DNA packaging. Higher
levels of coiling form more condensed structures, which are
visible as distinct chromosomes during cell division. Each
chromosome has:

Centromeres: These are regions that hold sister

chromatids together until they are separated during cell
division.
Telomeres: These are the repetitive nucleotide sequences
at the ends of chromosomes. They protect the chromosome

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ends from degradation and prevent them from sticking to
each other.

4. Loci and Gene Location

Each gene occupies a specific location on a chromosome,

called a locus. The organization of genes along
chromosomes is not random. Genes are located at specific
points on each chromosome and their position helps
regulate when and where they are expressed.

II. DNA Replication

DNA replication is the process through which a cell

duplicates its DNA before it divides. This ensures that both
daughter cells inherit an identical set of genetic instructions.
In molecular biology, DNA replication is the biological
process of producing two identical replicas of DNA from one
original DNA molecule. DNAreplication occurs in all living

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organisms acting as the most essential part of biological
inheritance. This is essential for cell division during growth
and repair of damaged tissues, while it also ensures that
each of the new cells receives its own copy of the DNA.
The cell possesses the distinctive property of division,
which makes replication of DNA essential.

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DNA replication: The double helix is un'zipped' and
unwound, then each separated strand (turquoise) acts as a
template for replicating a new partner strand (green).
Nucleotides (bases) are matched to synthesize the new
partner strands into two new double helices.
DNA is made up of a double helix of two complementary
strands. The double helix describes the appearance of a
double-stranded DNA which is thus composed of two linear
strands that run opposite to each other and twist together to
form.[6] During replication, these strands are separated.
Each strand of the original DNA molecule then serves as a
template for the production of its counterpart, a process
referred to as semiconservative replication. As a result of
semi-conservative replication, the new helix will be
composed of an original DNA strand as well as a newly
synthesized strand. Cellular proofreading and
error-checking mechanisms ensure near perfect fidelity for
DNA replication.

In a cell, DNA replication begins at specific locations, or

origins of replication, in the genome which contains the
genetic material of an organism. Unwinding of DNA at the
origin and synthesis of new strands, accommodated by an
enzyme known as helicase, results in replication forks
growing bi-directionally from the origin. A number of
proteins are associated with the replication fork to help in
the initiation and continuation of DNA synthesis. Most
prominently, DNA polymerase synthesizes the new strands
by adding nucleotides that complement each (template)

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strand. DNA replication occurs during the S-stage of
interphase.

DNA replication (DNA amplification) can also be performed

in vitro (artificially, outside a cell). DNA polymerases
isolated from cells and artificial DNA primers can be used to
start DNA synthesis at known sequences in a template
DNA molecule. Polymerase chain reaction (PCR), ligase
chain reaction (LCR), and transcription-mediated
amplification (TMA) are examples. In March 2021,
researchers reported evidence suggesting that a
preliminary form of transfer RNA, a necessary component
of translation, the biological synthesis of new proteins in
accordance with the genetic code, could have been a
replicator molecule itself in the very early development of
life, or abiogenesis.

1. Overview of DNA Replication

DNA replication is a semi-conservative process, meaning

that each new DNA molecule consists of one original
(parental) strand and one newly synthesized strand. The
replication process takes place during the S phase
(Synthesis phase) of the cell cycle.
DNA replication is the process by which a cell copies its
DNA to produce two identical copies:

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Process

DNA replication is a complex process that occurs in all

living organisms and is essential for cell division and tissue
repair.

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Mechanism

DNA replication is a semiconservative process, where each

strand of the original DNA acts as a template for a new
strand.

Enzymes

DNA replication involves a number of enzymes, including

DNA polymerase, helicase, topoisomerase, and primase.

Proofreading

DNA replication has several proofreading mechanisms to

ensure accuracy.

Stages

DNA replication involves four major stages: initiation,

unwinding, primer synthesis, and elongation.

Importance

DNA replication is essential for cell division and ensuring

that each new cell has a complete copy of the DNA.

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2. Key Steps of DNA Replication

Initiation:

Replication begins at specific points in the DNA called

origins of replication. In eukaryotes, multiple origins exist,
allowing for simultaneous replication at different parts of the
chromosome.

Helicase is the enzyme responsible for unwinding the DNA

double helix by breaking the hydrogen bonds between the
base pairs (A-T and G-C). This creates a replication fork,
where the DNA strands separate.

Primase adds a short RNA primer to the DNA, providing a

starting point for DNA synthesis.

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Elongation:

DNA polymerase is the main enzyme responsible for

synthesizing new DNA strands. It adds nucleotides
complementary to the template strand (A pairs with T, and
G pairs with C).

DNA replication occurs in a 5' to 3' direction, meaning new

nucleotides are added to the 3' end of the growing strand.

Leading strand synthesis is continuous because it runs in

the 5' to 3' direction along the template strand.

Lagging strand synthesis is discontinuous and forms small

segments called Okazaki fragments, which are later joined
by DNA ligase.

Termination:

Once replication is complete, the RNA primers are replaced

with DNA, and the ligase enzyme seals the gaps between
the Okazaki fragments, completing the formation of the new
DNA molecule.

3. Semi-Conservative Replication

In each new DNA double helix, one strand is from the

original molecule (parent strand), and the other is newly
synthesized (daughter strand). This is referred to as

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semi-conservative replication because one of the original
strands is conserved in each new DNA molecule.

III. Transcription

Transcription is the process of copying a gene’s DNA

sequence into RNA, which can then be used to synthesize
proteins. This is the first step of gene expression and
occurs in the nucleus of eukaryotic cells.
Transcription is the process of copying a segment of DNA
into RNA. The segments of DNA transcribed into RNA
molecules that can encode proteins produce messenger
RNA (mRNA). Other segments of DNA are transcribed into
RNA molecules called non-coding RNAs (ncRNAs).

Both DNA and RNA are nucleic acids, which use base pairs
of nucleotides as a complementary language. During
transcription, a DNA sequence is read by an RNA
polymerase, which produces a complementary, antiparallel
RNA strand called a primary transcript.

In virology, the term transcription is used when referring to

mRNA synthesis from a viral RNA molecule. The genome
of many RNA viruses[a] is composed of negative-sense
RNA which acts as a template for positive sense viral
messenger RNA - a necessary step in the synthesis of viral
proteins needed for viral replication. This process is
catalyzed by a viral RNA dependent RNA polymerase.

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1. Overview of Transcription

During transcription, only one strand of the DNA, called the

template strand, is used to create a complementary RNA
strand. The other strand, called the coding strand, has the
same sequence as the RNA but with thymine (T) replaced
by uracil (U).

2. Steps in Transcription

Initiation:

Transcription begins when the enzyme RNA polymerase

binds to a specific sequence of DNA called the promoter,
which is located near the beginning of the gene.

The RNA polymerase unwinds the DNA double helix and

begins to synthesize an RNA strand complementary to the
DNA template.

Elongation:

RNA polymerase moves along the DNA template strand,

adding RNA nucleotides (A, U, C, G) to form the RNA
molecule. Uracil (U) replaces thymine (T) in RNA, so
adenine (A) pairs with uracil instead of thymine.
The newly synthesized RNA strand is formed in the 5' to 3'
direction, just like DNA replication.

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Termination:

Transcription continues until RNA polymerase encounters a

specific sequence called the terminator. At this point, the
RNA polymerase releases the newly synthesized RNA
transcript, and transcription ends.

3. Types of RNA

mRNA (Messenger RNA): Massager RNA Carries the

genetic code from the DNA in the nucleus to the ribosomes
in the cytoplasm, where protein synthesis occurs.
Messenger RNA (abbreviated mRNA) is a type of
single-stranded RNA involved in protein synthesis. mRNA is
made from a DNA template during the process of
transcription. The role of mRNA is to carry protein
information from the DNA in a cell’s nucleus to the cell’s
cytoplasm (watery interior), where the protein-making
machinery reads the mRNA sequence and translates each
three-base codon into its corresponding amino acid in a
growing protein chain.

tRNA (Transfer RNA): Transfer RNA Brings amino acids to

the ribosome during translation, matching them to the
correct codon in the mRNA through its anticodon sequence.
tRNA or transfer RNA is a type of RNA, which helps in the
synthesis of protein from mRNA. tRNA functions as an
adapter molecule during the translation process. It was
earlier known as soluble RNA or sRNA. As an adapter, it

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links the amino acids to nucleic acids. It carries the amino
acid to be added in the peptide chain and also deciphers
the codon for the same in the mRNA molecule.

rRNA (Ribosomal RNA): Ribosomal RNA forms the core

components of ribosomes, the cellular machines that
synthesize proteins. RNA is a type of ribonucleic acid that
assists in the body’s synthesis of proteins. In the body of a
human, this nucleic acid is in charge of creating new cells. It
is often generated from the DNA molecule. The sole
difference between RNA and DNA is that RNA only has one
strand, whereas DNA has two and only one ribose sugar
molecule.

All cells require ribosomes, the main building block of

non-coding RNA known as ribosomal ribonucleic acid
(rRNA). To create the large and small ribosome subunits,
ribosomal RNA is translated from ribosomal DNA (rDNA).

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IV. Genetic Code

The genetic code is the set of rules by which the sequence

of nucleotides in mRNA is translated into the sequence of
amino acids in a protein.
The genetic code is the set of rules used by living cells to
translate information encoded within genetic material (DNA
or RNA sequences of nucleotide triplets, or codons) into
proteins. Translation is accomplished by the ribosome,
which links proteinogenic amino acids in an order specified
by messenger RNA (mRNA), using transfer RNA (tRNA)
molecules to carry amino acids and to read the mRNA three
nucleotides at a time. The genetic code is highly similar
among all organisms and can be expressed in a simple
table with 64 entries.
The codons specify which amino acid will be added next
during protein biosynthesis. With some exceptions, a
three-nucleotide codon in a nucleic acid sequence specifies
a single amino acid. The vast majority of genes are
encoded with a single scheme (see the RNA codon table).
That scheme is often referred to as the canonical or
standard genetic code, or simply the genetic code, though
variant codes (such as in mitochondria) exist.

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1. Definition of the Genetic Code

The genetic code consists of codons—groups of three

nucleotides in mRNA—that correspond to specific amino
acids or stop signals during protein synthesis.

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The genetic code is the set of rules that living cells use to
translate DNA or RNA sequences into proteins. The genetic
code is made up of three-letter "codons" that specify which
amino acid is needed for each position in a protein.

The genetic code is based on the four nucleotide bases of

DNA: adenine (A), cytosine (C), guanine (G), and
thymine (T). The vast majority of living organisms share
the same genetic code.

Technological advances in DNA synthesis and sequencing

have made it possible to develop synthetic genomes with
altered genetic codes. These organisms can have unique
capabilities, such as genetic isolation, virus resistance, and
the production of proteins with new functions.

2. Codons and Translation

Codons: The genetic code is made up of codons, which

are groups of three bases that specify amino acids or stop
translation. For example, the codon AUG codes for the
amino acid methionine, and is also the start codon that
indicates the start of a protein.
Each codon is a set of three nucleotides in mRNA that
codes for a particular amino acid. For example, the codon
AUG codes for methionine, which is the start codon that
signals the beginning of translation
.
Stop Codons: There are three stop codons—UAA, UAG,
and UGA—which signal the end of protein synthesis.

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Amino acids:
The amino acid phenylalanine (Phe) is specified by the
codons UUU and UUC, while the amino acid leucine (Leu)
is specified by the codons CUU, CUC, CUA, and CUG.

Redundancy:

The genetic code is redundant, meaning that most amino

acids are specified by more than one codon.

Mutations:

The genetic code can mutate when it's rearranged or

deleted during replication and transcription. This can lead to
new physical traits in an organism. For example, sickle cell
anemia can be caused by replacing Valine (Val) by
Glutamine (Gln) in a gene sequence.

The genetic code is universal across all living beings,

but it has been found to diverge slightly in some
organisms.

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3. Characteristics of the Genetic Code

Universal: The genetic code is nearly universal, meaning

the same codon specifies the same amino acid in almost all
organisms, from bacteria to humans.
All living organisms use the same genetic code, which
shows that all organisms share a common evolutionary
history.

Unambiguity: Each codon codes for only one amino acid

or start or stop signal.

Redundancy: Most amino acids are coded by more than

one codon

Degenerate: The code is degenerate, meaning that most

amino acids are encoded by more than one codon. For
example, both UUU and UUC code for the amino acid
phenylalanine.

Non-overlapping: The code is read sequentially in groups

of three, and a nucleotide that becomes part of a triplet
never becomes part of the next triplet.
Codons are read one at a time, without overlap. Each triplet
is read independently from the one before and after it.

Start and stop codons: The start codon is AUG, which

codes for methionine, and the stop codons are UAG, UAA,
and UGA.

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The genetic code is a set of rules that living cells use to
translate information from genetic material into
proteins. The code is made up of three-letter "codons"
that specify which amino acid is needed at each
position in a protein

Conclusion

The processes of chromosomal organization, DNA

replication, transcription, and translation governed by the
genetic code form the backbone of gene expression and
heredity. These complex biological mechanisms ensure that
the genetic information encoded in DNA is accurately
replicated and used to build proteins, the functional
molecules essential for life. Understanding these processes
is fundamental to grasping how traits are passed from
generation to generation and how cells function at the
molecular level.

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