Unit 30: Molecular Biology and Genetics

Assignment Brief
Student Name/ID Number Dhanushi Wijerathne.HSC-B09-032

Unit Number and Title Unit 30: Molecular Biology and Genetics

Academic Year 2024

Unit Tutor Ms. Sasini Wijewarna

Assignment Title Individual Assignment 1

Issue Date
23rd Aug 2024

Submission Date Task 1 Submission Formative Feedback:14th of August 2024

Task 1: Submission of Final Assignment:21st of August
2024

Task 2 & 3: Submission for Formative Feedback:

11th of October 2024

Task 2 & 3: Submission for Summative Feedback:

20th of October 2024

Submission Format

The submission of Task 1, Task 2 and Task 3 in the form of a designed-on MS Word format.
The documents should also carry in-text citation where appropriate and a bibliography
generated by following Harvard referencing style. Use a clear and appropriate font, such as
Times New Roman 12 point. You are required to make use of headings, subheadings, paragraphs,
and illustrations as appropriate and all work must be supported with research.

Unit Learning Outcomes

LO 1: Discuss the organisational structure and function of mammalian DNA and RNA
LO 3: Illustrate inheritance patterns of diseases, using defined conventions
LO 4: Discuss the way in which changes in DNA can be linked to inherited physical effects in humans.
Transferable skills and competencies developed
Written communication
Problem solving skills
Research and Analytical skills
Critical thinking
Practical skills
Public speaking skills
Vocational scenario

You have been hired to develop relevant educational material and give guided speeches to
supplement the Advanced level students’ knowledge with regards to molecular Biology and
Genetics from the ministry of education. These study materials should be able to provide
knowledge about the structure and function of mammalian DNA and RNA, Genetics and Patterns
of Inheritance and diseases and genes.

Assignment activity and guidance

Task 1 (LO1)
Designing a chapter for a booklet on the topic “Organisational Structure and function of
Mammalian DNA and RNA ”. Use appropriate diagrams to support your ideas. The word
limit should be between 3500-4000 excluding the references, in-text citations, figure
legends, etc. The documents should also carry in-text citation where appropriate and a
bibliography generated by following Harvard referencing style.

In the relevant book chapter, the student needs to include information on below mentioned topics:
 Introduction to Molecular Biology
 Central Dogma of Life
 Organisational structure of DNA and RNA how it relates to the efficient functioning of the
cell
 The role that DNA plays in cells becoming specialised for their function in the body
 An analysis on the molecular processes that allow cells to efficiently function in response
to changes in their environment
 A critical evaluation on the importance of nucleic acids being copied from an existing
template to cellular function
Task 2 (LO3)
Prepare a report on the topic “Organisational Structure and function of Mammalian
DNA and RNA ”. Use appropriate diagrams to support your ideas. The word limit should
be between 3500-4000 excluding the references, in-text citations, figure legends, etc. The
documents should also carry in-text citation where appropriate and a bibliography
generated by following Harvard referencing style.

 Introduction to Genetics
 Illustration on the inheritance patterns for dominant and recessive diseases, using genetic
diagrams
 How to predict outcomes of genetic crosses, using the Punnett square
 A review on complex information (including pedigrees) to account for inheritance patterns
of sex-linked disorders
 An evaluation on the ways in which patterns of inheritance such as epistasis can manifest
in phenotype, with relevant examples

Task 3 (LO4)
Prepare a separate report on the topic “Diseases and Genes”. Use appropriate diagrams to
support your ideas. The word limit should be between 3500-4000 excluding the references,
in-text citations, figure legends, etc. The documents should also carry in-text citation where
appropriate and a bibliography generated by following Harvard referencing style.
Following content needs to be covered by your report;
• Introduction to mutations
• The effect on protein structure as a result of a change in a single base pair in DNA
• How the pathologies of serious diseases result from a change in a single base pair of DNA
(with examples)
• An evaluation on the way in which there can be a range of changes to a single gene that
result in a similar disease pathology taking cystic fibrosis and thalassemia as examples
• A critical evaluation on genetic risk factors in the lifetime development of serious diseases,
such as cancers

Recommended Resources
Please note that the resources listed are examples for you to use as a starting point in your
research – the list is not definitive.
Textbooks
ALLISON, L.A. (2011) Fundamental Molecular Biology. 2nd ed. Oxford: Wiley-Blackwell.
BROWN, T.A. (2015) Introduction to Genetics: A Molecular Approach. Boca Raton, FL: CRC
Press/Garland Science.
LEWIS, R. (2017) Human Genetics: The Basics. 12th ed. Abingdon: Routledge.

Web
 en.wikibooks.org Wikibooks – open access
An Introduction to Molecular
Biology (General reference)
genetics.org.uk The British Genetics
Society (General
reference)
cambridge.org Cambridge Journals – Cambridge
Core Genetics
(Research)

Learning Outcomes and Assessment Criteria

Illustrate the ways in which the organizational structure of DNA and RNA relates to the efficient
functioning of the cell.
Discuss the role that DNA plays in cells becoming specialized for their function in the body.
Analyze the molecular processes that allow cells to efficiently function in response to changes in
their environment.
Critically evaluate the importance of nucleic acids being copied from an existing template to cellular
function.
The following format should be followed when you are submitting the assessment
1. Module Standard Cover Page
2. Assignment brief
3. Plagiarism declaration page
4. Assignment 1 (Task 1,Task 2 and Task 3)

General guidelines for students

1. Individual assessment
2. Use relevant theory/models/frameworks/concepts to support your arguments
3. Students are required to conduct a thorough research using various research
tools and relevant information search. Students are required to identify the
issues or problems for which they must describe, analyze, and discuss in the
assignment.
4. In-text citations where necessary; including for figures and diagrams
5. The assignment should be typed using 1.5 spaces between lines
6. Margins (Normal; Top: 2.54cm, Bottom: 2.54cm, Left: 2.54 cm, Right: 2.54
cm)
7. Alignment: Justify
8. Footer containing page numbers
9. Header containing Assignment title and Index number
10. Bullets and numbering (If necessary)

STUDENT ASSESSMENT SUBMISSION AND DECLARATION

When submitting evidence for assessment, each student must sign a declaration confirming
that the work is their own.
Student name: Dhanushi Wijerathne. Assessor name: Ms. Sasini Wijewarna

Issue date: 23rd Aug 2024 Submission date: 21st of Submitted on: 21st of August
August 2024 2024

Programme:
Higher National Diploma in Applied Sciences

Unit: Molecular Biology and Genetics

Plagiarism
Plagiarism is a particular form of cheating. Plagiarism must be avoided at all costs and
students who break the rules, however innocently, may be penalised. It is your responsibility
to ensure that you understand correct referencing practices. As a university level student, you
are expected to use appropriate references throughout and keep carefully detailed notes of all
your sources of materials for material you have used in your work, including any material
downloaded from the Internet. Please consult the relevant unit lecturer or your course tutor if
you need any further advice.

Student Declaration
I certify that the assignment submission is entirely my own work and I fully understand the
consequences of plagiarism. I understand that making a false declaration is a form of
malpractice.

Student signature:
Higher Nationals - Summative Assignment Feedback Form
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Unit Title Molecular Biology and Genetics
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ORGANISATIONAL STRUCTURE
AND FUNCTION OF MAMMALIAN
DNA AND RNA.
Introduction to Molecular Biology.

Overview of Molecular Biology.

Definition of molecular biology.

Molecular biology is a scientific field that studies the chemical processes and structures of
biological occurrences centred around molecules, which are fundamental units of life. This
field concerns itself with nucleic acids (such as RNA and DNA) and proteins, which are
important macromolecules controlling critical physiological functions, studying how these
components interplay inside cells. (The editors of Britannica, 2019)

Key Molecules in Molecular Biology.

Figure: key molecules. (Haneef, n.d.)

Genetic information is carried by the double helix of nucleotides known as DNA, where
specific base pairing plays a crucial role in replication. Chromosomes are composed of both
proteins and DNA to ensure fair distribution of genetic material during cell division. RNA,
which resembles DNA but consists only one strand, may be an early predecessor in life's
evolution. (The editors of Britannica, 2019a)

Central Dogma of Life.

The Flow of Genetic Information.

Figure: The Flow of Genetic Information. (SlideShare, 2014)

DNA replication.
 Figure: DNA replication. (BYJU'S, 2022)

The ability of cells to divide and generate new ones from pre-existing ones is important for
the continuity of life. This fundamental aspect, referred to as cell division, plays a critical role
in growth, development and tissue repair across all living organisms. The central process
involved in cell division is DNA replication- an extremely accurate sequence where entire
genomes are duplicated by the cell to guarantee that each daughter cellular unit receives
indistinguishable copies of genetic information necessary for its optimal functioning and
survival. Without question, DNA replication constitutes a critical measure towards
maintaining unbroken hereditary heritage between generations of cells. (Ahern and
Rajagopal, 2021)

DNA repair.
DNA can be harmed by different factors like ultraviolet radiation, environmental chemicals
and normal cellular processes resulting in damage over time. This harm is capable of
interrupting the precise sequence of genetic data that leads to mutations or errors which have
significant outcomes for organisms. Minor changes such as point mutations can create
differences in gene functions frequently with profound results. If this impairment isn't
appropriately corrected, it may impede accurate transmission of inherited information during
cell division leading to developmental abnormalities or diseases ultimately. (Ahern and
Rajagopal, 2021)

DNA transcription.

Figure: DNA transcription. (Mokobi, 2020)

 Initiation: RNA polymerase initiates the process of transcription by attaching itself to

a particular area on the DNA known as the promoter. This action causes unwinding of
 DNA, aiding in enzyme's ability to evaluate nucleotide bases from one strand for
RNA synthesis purposes. (Pray, 2008)

 Elongation: While elongating, RNA polymerase adds complementary RNA

nucleotides to the growing RNA strand by moving along the DNA template strand.
The length of the RNA chain increases and separates from its original genetic
blueprint as DNA undergoes a process of regaining its double helix structure. (Pray,
2008)

 Termination: The termination of transcription occurs upon the RNA polymerase

meeting a specific sequence, referred to as the terminator sequence on DNA.
Afterwards, this genetic instruction causes the enzyme's release from DNA and
completes synthesis of an RNA molecule. Once formed, further processing enables
functional mRNA production which can undergo translation into protein formation.
(Pray, 2008)

DNA is the building block of genes, which determine protein composition. Messenger RNAs
(mRNAs) are formed when gene information is transcribed temporarily and they aid in
producing proteins that have specific functions. The process by which genetic messages flow
from DNA to RNA then to protein synthesis represents a basic molecular biology concept
referred as the Central Dogma. This encapsulates how genes orchestrate essential instructions
for creating proteins necessary for carrying out vital cellular activities. Genes are responsible
for providing important instructions necessary to create proteins needed for essential cellular
activities. (Ahern and Rajagopal, 2021)

Transcription regulation.
Transcription processes are necessary for gene expression, and the regulation of these
processes depends on precise interactions between proteins known as transcription factors.
These factors control transcription rates by binding to specific regulatory sequences present
in DNA molecules, including promoters that play an important role in determining when and
where the process starts. Acting as markers along the DNA chain, promoters help initiate
RNA production accurately at appropriate intervals ensuring accurate genetic information
translation. (Ahern and Rajagopal, 2021)

RNA processing.

The transcription of genetic information from DNA to RNA is an important stage in the
expression of genes. It involves using a portion of DNA as a pattern for creating an identical
RNA sequence, also referred to as primary transcript. Additional modifications are performed
on this primary transcript before it can function effectively as an RNA molecule. In
prokaryotes and eukaryotes alike, mature forms of ribosomal (rRNA) and transfer RNAs
(tRNA), necessary components involved in protein synthesis undergo processing steps for
their development into functional molecules. (Ahern and Rajagopal, 2021)

Translation.
 Figure: DNA translation. (Sagar Aryal, 2018)

Translation is the mechanism by which messenger RNA (mRNA) encoded information

undergoes protein synthesis. Within eukaryotic cells, this process takes place in the
cytoplasm and relies on ribosomes that are large complexes of RNA-protein. Comprising
ribosomal RNAs (rRNAs), as well as different proteins, these ribosomes formulate two
distinct subunits: a significant unit and a small one during protein translation from mRNA
sequence to an identified amino acid series for functional protein formation., both units
function collaboratively towards producing specific sequences. (Ahern and Rajagopal, 2021)

 Initiation: At the initiation of protein synthesis, the ribosome forms around the mRNA
strand by recognizing the start codon (AUG). The initiator tRNA connects to this
codon and carries out methionine amino acid binding. (Clancy and Brown, 2008)
  Elongation: As the mRNA is travelled by the ribosome, it interprets codons and
summons associated tRNA molecules that carry amino acids. Through this process,
peptide bonds form between successive amino acids creating an extended polypeptide
chain controlled by the ribosome. (Clancy and Brown, 2008)

 Termination: Translation halts when the ribosome encounters a stop codon (UAA,
UAG, or UGA) on the mRNA. The finalized polypeptide is set free and following
disassembly of the ribosome can undergo folding and additional processing as a
newly synthesized protein. (Clancy and Brown, 2008)

Comparison of eukaryotic and prokaryotic translation and translational factors.

Both prokaryotes and eukaryotes share a similar translation process. Despite use of different
elongation, initiation, and termination factors, the genetic code remains relatively identical.
Unlike bacteria wherein transcription and translation occur concurrently resulting in short-
lived mRNAs, within eukaryotic cells highly variable half-lives of mRNA are subjected to
modifications before exiting the nucleus for metabolism regulation which finely tunes gene
expression levels hence governing protein production subsequently. (Clancy and Brown,
2008)

The efficient and accurate expression of genetic information relies on the translation
complex, a crucial cell biology component. The ribosome assembly on mRNA, addition of
amino acids to form polypeptide chains, and recognition of stop codons are regulated by
elongation factors and initiation factors. These proteins play an important role in responding
quickly to environmental changes and developmental signals; they drive core processes for
gene expression. (Jove.com, 2019)

Organizational Structure of DNA and RNA.

DNA Structure.

Double helix model.

Figure: DNA double helix model. (mungfali.com, n.d.)

Definition.

The shape of our hereditary molecule, DNA is referred to as the double helix. This well-
known structure comprises two strands of twisted DNA connected in the center by hydrogen
bonding that occurs between nucleotides - these are considered the fundamental units of
DNA and form part of its genetic code language. (McLaughlin, 2020)

In the 1950s, James Watson and Francis Crick's crucial research led to the revelation of
DNA's double helix structure. This momentous discovery is widely regarded as one of
biology's most significant breakthroughs thus far. However, there have been disputes over
whether these scientists credited Rosalind Franklin for her contributions during their
investigation into the DNA double helix story. (McLaughlin, 2020)

Structure of DNA.

Figure: Structure of DNA. (Mavink.com, 2024)

DNA strands are composed of repeating units called nucleotides, making them
polynucleotides. Every nucleotide consists of three components,

 Deoxyribose is a sugar comprised of five carbon atoms.

 A group consisting of a phosphate.
 A base that contains nitrogen. (McLaughlin, 2020)

A phosphodiester bond is created between the 4th carbon of the deoxyribose sugar in a
nucleotide and the adjacent phosphate group, thus forming the essential structure of DNA's
sugar-phosphate backbone. (McLaughlin, 2020)

DNA uses nitrogenous bases as its "language," consisting of four types: guanine (G), adenine
(A), thymine(T) and cytosine(C). These can be classified into two groups according to their
structure, whereby purines containing a double-ring with two-carbon nitrogen are represented
by guanine and adenine; while pyrimidines including one-carbon nitrogen ring consist of
thymine and cytosine. (McLaughlin, 2020)

Refer the genetic code as the amalgamation of four letters present in DNA molecules. It
encompasses all directives crucial for constructing and operating a complete organism.
The double helix structure is formed as each polynucleotide strand pairs up with a
complementary counterpart and coils around it. (McLaughlin, 2020)

The Characteristics of the Double Helix Structure of DNA.

 Directionality of the Helix

The structure of DNA is made up of two intertwined strands that form a helix, with
each turn occurring every ten nucleotides. The directionality of the helix is
predominantly right-handed, akin to descending down a spiral staircase by turning
right. While the outer surface comprises the DNA strands themselves, nestled within
lies the nitrogenous bases forming its core. (McLaughlin, 2020)

 Pairing of complementary bases.

The nucleotides on each strand bond via hydrogen in a specific pattern. Specifically,
adenines pair solely with thymines while cytosines only bind guanines. When guanine
and cytosine come together, three hydrogen bonds form between them; whereas two
are established when thymines encounter guanines. Consequently, DNA strands
possess complementary qualities to one another. (McLaughlin, 2020)

 The code of genetics.

The arrangement of nucleotides varies amongst organisms, serving as the repository

for genetic traits that distinguishes each individual. Through inheritance, DNA
sequence perseveres across generations and is crucial to sustain life. (McLaughlin,
2020)

 Orientation that is antiparallel.

The two DNA strands run in opposite directions to each other, which is known as
antiparallel. Consequently, one end of a given molecule concludes with a phosphate
group (known as the 5' terminal due to its attachment on the fifth carbon) while the
complementary strand terminates with an OH or hydroxyl group (called 3' terminus
since it appears at the third carbon). The reverse holds for their corresponding ends
within that particular molecular structure. (McLaughlin, 2020)

 Grooves, major and minor.

 One side of the DNA helix has a closer proximity between the backbone of its two
strands, while on the other side they are farther apart. The region with closer spacing
is referred to as major groove and that with wider spacing as minor groove.
(McLaughlin, 2020)

The major groove holds significant functional importance since specific proteins have
a preference for binding to it. Usually, these proteins are nucleotide-interacting factors
like transcription and DNA replication enzymes. Conversely, non-sequence-specific
proteins will interact with the minor groove instead. (McLaughlin, 2020)

 Enzyme for Unwinding.

In order for DNA to be inherited in the succeeding generation, it must undergo

replication. To ensure an accurate duplication process, the double helix must first
unravel or separate itself into single strands allowing cell machinery entry to the
nucleotide sequence. This separation is facilitated by a crucial enzyme called helicase.
(McLaughlin, 2020)

Helicase serves the purpose of altering DNA structure by disrupting hydrogen bonds
linking paired nucleotides. As well as transcription, helicase also proves crucial in
mending damaged DNA. (McLaughlin, 2020)

 Different structures of DNA.

The B-DNA model, developed by Watson and Crick, represents the most prevalent
configuration of DNA. In nature, Z-DNA and A-DNA conformations are less
frequently found. The former is a left-hand helix lacking prominent disparities
between major and minor grooves whereas the latter bears close resemblance to B-
DNA but appears more condensed. (McLaughlin, 2020)
Base pairing rules and antiparallel strands.

Figure: Base pairing and antiparallel strands. (SlideShare, 2014b)

The regulations for base pairing, also known as nucleotide pairing are,

When paired, adenine (A), a purine base, always pairs with thymine (T), which is a
pyrimidine.
The purine guanine (G) always pairs with the pyrimidine cytosine (C). (W. Kimball,
2016)

This is in accordance with the limited space (20 Å) available for two purines to
coexist within the helix and excessive space between two pyrimidines preventing
 them from forming hydrogen bonds. The response lies in only A&T as well as C&G
possessing potential opportunities to establish necessary hydrogen bonds (represented
by dotted lines). These interactive patterns are commonly referred to as Watson-Crick
base pairing rules, after their structural underpinnings were discovered by these
researchers. (W. Kimball, 2016)

RNA Structure.

Definition.

RNA is a complex substance with high molecular weight, and it serves the purpose of
facilitating cellular protein synthesis. In certain viruses, RNA replaces DNA as the carrier of
genetic codes. Ribose nucleotides form RNA by linking through phosphodiester bonds to
create varying strand lengths. Adenine, guanine, cytosine and uracil are among its
nitrogenous bases that differ from those in DNA since thymine isn't utilized within this
context. (Wan and Chatterjee, 2024)

RNA's ribose sugar is a cyclic structure with five carbons and one oxygen. The molecule's
second carbon group holds a chemically reactive hydroxyl (−OH) group, which renders RNA
susceptible to hydrolysis. This chemical instability distinguishes RNA from DNA, whose
deoxyribose lacks an −OH in the same position on its sugar moiety. Consequently, DNA has
emerged as the favoured genetic information carrier for most organisms over time. R.W
Holley delineated the construction of RNA in 1965. (Wan and Chatterjee, 2024)

Structure of RNA .
 Figure: RNA Structure. (Dreamtime, n.d.)

Although RNA is typically single-stranded, the presence of self-complementary sequences

can cause it to fold into complex structures with bulges and helices. The stability and function
of RNA depend on its three-dimensional structure which allows for modifications by
enzymes that attach chemical groups like methyl groups to the chain. These modifications
promote bonding between different regions in the molecule, resulting in further stabilization.
Molecules without strong stabilizing mods may be destroyed quickly, an example being
tRNAiMet where a lack of modification at position 58 renders it non-functional and thus
subject to cellular quality control mechanisms leading ultimately to destruction. (Wan and
Chatterjee, 2024)

Ribonucleoproteins (RNPs) are complexes that can also be formed with RNAs. One cellular
RNP has demonstrated the capability of RNA to act as a biological catalyst, a function
traditionally attributed exclusively to proteins. (Wan and Chatterjee, 2024)
Messenger RNA (m RNA).

Figure: structure of m RNA. (Mavink.com, 2020)

Only a 5% of RNA present in the cell is mRNA, which stands out as the most diverse among
all three types regarding base sequence and size. It plays an integral role by carrying genetic
code through codons comprising triplets of nucleotides that are copied from DNA during
transcription. (Cheriyedath, 2018)

A distinct amino acid is determined by each codon, yet multiple different codons can code for
one single amino acid. Although the genetic code allows for 64 potential triplet bases or
codons, only 20 of these represent actual amino acids. Additionally, there are three stop
codons present in this system that signal the cessation of protein production through
translation to ribosomes. (Cheriyedath, 2018)

Eukaryotic post-transcriptional processing involves capping the 5' end of mRNA with a
guanosine triphosphate nucleotide to assist with recognition during protein synthesis.
Additionally, multiple adenylate residues are added to the 3' end in the form of a poly-A tail,
preventing enzymatic degradation. These modifications at both ends increase overall stability
of the mRNA molecule. (Cheriyedath, 2018)

Function.

In protein synthesis, messenger RNA (mRNA) plays a crucial role as it transfers genetic
codes from the DNA in the nucleus to ribosomes in the cytoplasm where translation occurs.
The ribosomes are made up of both ribosomal RNA (rRNA) and proteins and read mRNA's
genetic code by translating it into a sequence of amino acids that form proteins. Every three
nitrogenous bases or codons on mRNA instruct which particular amino acid should be
included in building the protein chain. This reliance means that mRNA is essential for gene
expression since acting as an exact guide, without its presence, synthesizing new proteins
would stop completely. (Wan and Chatterjee, 2024)

Ribosomal RNA (rRNA).

 Figure: structure of r RNA. (Anie ma'am, 2023)

There are various rRNA molecules that constitute 80% of the total RNA in a cell and can be
located within ribosomes. Ribosomes, on the other hand, comprise two subunits known as
50S (large) and 30S (small). Both these units have their unique set of rRNAs including small
ones for the smaller unit while larger ones for its counterpart. (Cheriyedath, 2018)

Ribosomal RNAs bind together with proteins and enzymes within the cytoplasm to produce
ribosomes, which serve as a location for protein synthesis. During translation, these
complicated structures move across the mRNA molecule while assisting in connecting amino
acids that create a polypeptide chain. They interact with important molecules such as tRNAs
necessary for proper protein synthesis. (Cheriyedath, 2018)

Although the number of nucleotides in small and large rRNAs varies between bacteria
(approximately 1500 and 3000, respectively) and humans (about 1800 and 5000), ribosomes
exhibit similar structure and function across all species. (Cheriyedath, 2018)

Function.
In the production of protein, ribosomal RNA (rRNA) is important to both structure and
function within the cellular machinery known as ribosomes. Together with specific proteins,
rRNA composes two subunits that comprise a single ribosome following nucleolar synthesis
and cytoplasmic assembly. Essential in translation processes involving mRNA and tRNA
binding during peptide bond formation between amino acids resulting in polypeptide chain
creation through its catalytic capabilities - therefore establishing rRNA's fundamental role at
center stage for ultimate coordination of protein synthesis. (Wan and Chatterjee, 2024)

Transfer RNA (tRNA).

Figure: structure of t RNA. (Ali, 2024)

The smallest RNA among the 3 types is tRNA, which typically consists of 75-95 nucleotides.
Transfer RNAs or tRNAs are indispensable elements in protein synthesis due to their crucial
role in transferring amino acids. Accordingly, they earn their name as transfer RNAs.
(Cheriyedath, 2018)

Adapter molecules, also known as tRNA, are responsible for binding with specific amino
acids and transferring them to the developing polypeptide chain. With their dual role in
translation of mRNA genetic sequences into proteins, each of the 20 amino acids requires a
unique tRNA. (Cheriyedath, 2018)

The cloverleaf organization of tRNAs is upheld by strong hydrogen bonds connecting the
nucleotides and comprises unique bases, not limited to the ordinary 4. These uncommon
bases are created through methylation of typical ones; for instance, methylated guanine and
methylcytosine. (Cheriyedath, 2018)

Function.

TRNA, or Transfer RNA, plays a key role in translating genetic information into functional
proteins by bringing specific amino acids to ribosomes following the mRNA codon sequence.
With an anticodon region that matches and binds with complementary mRNA strands, tRNA
each containing fewer than 100 nucleotides is essential for ensuring protein synthesis
contains accurate representation of amino acid sequences. Its function as an adapter molecule
is critical to maintaining accuracy within this process. (Wan and Chatterjee, 2024)
Chromosomal Organization.

DNA packaging and storing.

Chromosomes are formed from compacted DNA through a hierarchical structure that
involves histones and nucleosomes. Histones, which possess positively charged amino acids,
bind to negatively charged DNA molecules effectively cancelling their charge. The formation
of the bead-like nucleosome occurs when an octamer comprising two each of H2A, H2B, H3
and 4 wrap around the DNA molecule; this structures like beads on string. Further
compaction is facilitated as another type of histone binds at both entry and exit points within
the bent region forming into solenoid called chromatin fiber resulting in about forty times
condensation effect. Through this process whole mechanism efficiently packages
chromosomes inside nucleus allowing gene expression based on selectively accessing certain
areas over others. (Cell - Secretory Vesicles | Britannica, 2024)

In living organisms, genetic information is stored in DNA which functions as the primary
storage unit. The unique arrangement of its nucleotides encodes instructions on how to build
and maintain cellular processes. This important data is limited within the double-helix
structure where adenine, thymine, cytosine, and guanine bases dictate this genetic code's
particular order. Due to its stability and efficiency at storing extensive amounts of
information compactly enough for existence across generations confirms continuity towards
life preserving mechanisms through DNA. (Cell - Secretory Vesicles | Britannica, 2024)

Relationship to Cellular Function.

DNA Structure and Its Role in Replication.

 Figure: Enzymes in DNA Replication (Zazu, 2014)

Figure: DNA Replication. (www.killowen.com, n.d.)

The double helix structure of DNA plays an important role in replication, as it is composed of
two complementarily paired antiparallel strands. The breaking of hydrogen bonds between
base pairs (adenine-thymine and guanine-cytosine) during this process separates the strands
allowing each to serve as a template for synthesis. Enzymes called DNA polymerases add
nucleotides while ensuring that accuracy remains high due to the specificity of base pairing,
producing an exact copy with preserved genetic information. This semiconservative
replication ensures daughter cells receive identical copies important in transmission-of-
genetic material and cell division processes. (Pray, 2008)

DNA and RNA Structure in Transcription.

Figure: prokaryotic and eukaryotic transcription. (Saher, n.d.)

During transcription, a particular gene sequence is revealed by the unwinding of the DNA
double helix. RNA's single-stranded characteristic permits it to create a complementing
strand against the uncovered DNA template with RNA polymerase synthesizing an RNA
molecule in that process. The newly generated nucleotide order within RNAs relies on their
base sequences from DNAs; however, uracil substitutes thymine instead. As a result,
messenger RNAs (mRNAs) are formed and transport genetic codes from DNAs towards
ribosomes for protein synthesis accurately. Therefore, revealing DNA strands and creating
complementary ones between them through RNA play crucial roles in precisely transferring
hereditary information into RNAs as its fundamental mechanism operates during these
instances alone. (Clancy, 2014)

RNA Structure in Translation.

Figure: Translation. (Sagar Aryal, 2017)

RNA, specifically mRNA, must possess a flexible and single-stranded makeup for an
essential process known as translation, in which the genetic code carried by mRNA is
transformed into protein. Within the ribosome structure of cells lies rRNA that interacts with
translated mRNAs in sets of trios called codons. Complementing these codons are anticodons
on tRNA structures characterized by their cloverleaf shape; this pairing enables amino acids
to be delivered accurately to ribosomes during translation. Finally, catalysed through rRNA
assistance within the dynamic mechanisms performed by Ribosomes between peptides forms
amino acid bonds leading to polypeptide chain synthesis- all possible due RNA's versatile
adaptability seen central form biological information decoding followed up assembly
proteins' role play formation capacity. (Clancy and Brown, 2008)

Role of DNA in Cell Specialization.

Gene Expression and Regulation.

How gene expression leads to cell differentiation.

Uniformity of DNA across all cells.

Figure: gene expression. (Beck, 2017)

Multiple experiments, including the cloning of Dolly the sheep, have confirmed that every
cell within a multicellular organism contains identical DNA. This suggest that fully
developed cells retain all genetic information from their original zygote form and suggests no
loss during developmental stages. What differentiates various cellular types (such as muscle
or liver) is regulated by gene expression rather than any elimination of genes - resulting in
unprecedented diversity among individual cells based on which genes are activated or
deactivated. (Ralston and Shaw, 2014)

Cell-extrinsic regulation and Cell-intrinsic regulation of gene expression.

 Figure: regulation features. (Research gate, n.d.)

Cell-extrinsic regulation of gene expression.

External factors, such as environmental cues and signals from neighbouring cells, have a
strong impact on gene expression by regulating its activity. These extrinsic factors come in
the form of small molecules or secreted proteins like growth factors while physical conditions
like temperature or oxygen levels also play a role. Once these signals are received,
intercellular signalling cascades initiate changes in gene expression that can activate or
repress specific genes. For instance, Drosophila's molting process is regulated with hormone
ecdysone inducing genetic modifications through altered gene expressions demonstrating
how external stimuli drive physiological activity via alterations to genetics processes
involved. (Ralston and Shaw, 2014)

During transformations like metamorphosis, external signals coming from cells can result in
widespread changes of gene expression. In the case of Drosophila, ecdysone performs a dual
role. besides discouraging glycolysis-related genes it also inhibits other metabolic pathways
like amino acid metabolism and fatty acid oxidation. This overall suppression across domains
coupled with muscle cell breakdown in larval muscle cells and neurological system
commencement shows how extrinsic stimuli effectively regulate complex development shifts
through modulation of several pathway gene-expression patterns simultaneously. (Ralston
and Shaw, 2014)

Cell-intrinsic regulation of gene expression.

The regulation of gene expression is heavily influenced by factors within the cell, known as
intrinsic factors. These include modifications to chromatin structure which are made up of
both DNA and histone proteins. Changes can be chemically caused in order to either enhance
or reduce accessibility for transcription factors that aid in regulating genes. By adjusting
aspects such as DNA methylation and histone acetylation at an epigenetic level, expressions
may shift without changing genetic code directly. During the differentiation of muscle cells,
proteins that modify chromatin interact with transcription factors such as MyoD. This
interaction enables changes in the chromatin structure and the activation of genes specific to
muscles. (Ralston and Shaw, 2014)

Throughout an organism's life, chromatin modifications have the ability to remain stable and
preserve gene expression patterns that define cell identity. Nevertheless, these changes are
not always enduring, their configuration can be reset while producing gametes or adjusted
during disease states such as cancer. During embryonic cells' development phase, distinct
chromatin changes make it possible for either remaining undifferentiated or progressing with
growth. These flexible epigenetic frameworks known as bivalent domains allow rapid
modulation of gene expressions in response to developmental stimuli guiding cellular
differentiation towards a final state. (Ralston and Shaw, 2014)

Post-transcriptional and Post-translational Regulation.

Eukaryotes rely on translation and gene expression as essential processes. The mRNA is
transcribed, followed by splicing and other changes that safeguard the RNA from
deterioration through alternative splicing. This enables functionally diverse proteins to be
expressed using a single gene. MicroRNAs and translational repressors also have an
influence in regulating translation. Lastly, post-translational modifications of proteins serve
as the ultimate level of genetic regulation affecting organ growth, cell viability, and
adaptation to environmental conditions. (Jove.com, 2019)

Role of transcription factors and epigenetic modifications.

Figure: epigenetic modifications. (Kumari, n.d.)

The regulation of gene expression and cell identity relies heavily on transcription factors and
epigenetic modifications. Proteins known as transcription factors bind to DNA sequences,
controlling the activation or silencing of genes by promoting or repressing RNA polymerase
recruitment in response to developmental signals and environmental stimuli. (Sekiya,
Nakatsukasa and Yoshimura, 2016)
Epigenetic modifications like DNA methylation and histone acetylation also impact gene
activity by modifying the accessibility of DNA for transcription factor binding without
changing its sequence. These alterations change chromatin structure either compacting it
leading to silenced genes or loosening it allowing activated ones. The combination of these
two agents permits a complex regulatory system that plays an essential part in establishing
long-term patterns critical for processes such as cellular differentiation, development, and
adaptations due to changes arising from their environment. (Sekiya, Nakatsukasa and
Yoshimura, 2016)

Stem Cells and Differentiation.

Pluripotency and lineage-specific differentiation.

Figure: lineage-specific differentiation of pluripotent progenitor cells. (Research Gate,

n.d.)

Pluripotency is the quality of stem cells that allows them to develop into any cell type present
in an organism, which serves as a crucial characteristic for embryonic cells. The pluripotent
stem cells located within the inner cell mass of a blastocyst possess this ability and have
immense potential since they can give rise to all three germ layers- ectoderm, mesoderm,
endoderm that make up the entire body. As development proceeds further, these pluripotent
cells then start undergoing lineage-specific differentiation towards specialized types while
committing themselves exclusively to some specific tasks or forming distinct tissues and
organs by following regulatory signals from their genetic coding along with extrinsic cues
provided by outside factors essential steps required for building more complex organisms
such as humans. Such specialization ultimately yields different tissue compositions necessary
for certain functions including muscle-cell formation and neuron generation contributing
significantly towards proper organizational functioning throughout life. (M. Loh and Lim,
2011)

Examples of Specialized Cells.

 Figure: neurons. (Nayturr, 2020)

Nerve cells, commonly known as neurons, possess a distinctive ability to relay information to
other nerve cells and muscle or glandular tissue. Within the nervous system, they serve as
primary functional units that can conduct electrical signals, thus transmitting neural impulses.
(Nayturr, 2020)
 Figure: muscle cells. (Limited, n.d.)

In contrast, muscle cells are accountable for the movement of muscles via contraction and
relaxation. They operate by receiving impulses from nerve cells to synchronize bodily
actions. (Tempany, 2023)
Molecular Processes in Response to Environmental Changes.

Signal Transduction Pathways.

The way cells sense and respond to external stimuli.

 By hormones.

Figure: Negative Feedback Cycle. (Biga et al., 2019)

 Figure: Lipid-Soluble Hormone Binding. (Biga et al., 2019)

Figure: Water- Soluble Hormone Binding. (Biga et al., 2019)

The detection of hormones by specialized receptors allows cells to perceive and react to
external stimuli. Hormones, which are released into the bloodstream by glands, bind highly
specific hormone receptors located on or within the cell. This binding initiates a series of
events within the cell that modify enzyme activity, gene expression, and cellular metabolism.
The result can be activation or inhibition of signalling pathways leading to physiological
responses tailored specifically for each unique stimulus encountered such as regulating
growth rates, modulating immune response intensity or adjusting metabolic rate. (Biga et al.,
2019)

Cells can modify their hormone sensitivity in response to environmental changes through a
process called receptor desensitization or downregulation. This occurs when cells decrease
the number or affinity of receptors after prolonged exposure to high levels of hormones.
Conversely, cells may increase their receptor count to become more responsive at low
hormone concentrations. These regulatory mechanisms help maintain an appropriate balance
of responsiveness and adaptability enabling homeostasis under the varying conditions. (Biga
et al., 2019)
  By nutrients.

Figure: Nutrients and Autophagy. (Efeyan, Comb and Sabatini, 2015)

various molecular mechanisms allow cells to sense and adapt efficiently to external stimuli,
including the availability of nutrients. The process often initiates at the cell membrane where
receptors and transporters detect specific nutrient presence and concentration. For instance,
amino acids, glucose, and other essential nutrients activate nutrient-sensing pathways such as
mTOR (mechanistic target of rapamycin) pathway. Acting as a central regulator for cellular
metabolism or growth & proliferation via modulation of metabolic pathways together with
protein synthesis based on nutrient levels is what makes mTOR crucial in its action. (Efeyan,
Comb and Sabatini, 2015)
Cells have signalling pathways that regulate metabolic processes to maintain a stable internal
environment in response to nutrient availability. The AMP-activated protein kinase (AMPK)
pathway, for instance, is activated when nutrients are rare or energy levels decline. By
promoting catabolic activities that generate ATP and inhibiting anabolic ones that consume it,
AMPK helps restore equilibrium of the energy balance. This adaptation enables cells to
optimize their energy utilization while adapting metabolic functions according to varying
conditions of nutrient accessibility necessary for survival and efficient operation under
fluctuating environmental circumstances. (Efeyan, Comb and Sabatini, 2015)

The way cells sense and respond to external stimuli.

MAPK pathway.

Figure: MAPK pathway. (Fang, 2005)

For cells to survive and function correctly when encountering changes in their environment,
they depend on various molecular pathways. One such pathway is the Mitogen-Activated
Protein Kinase (MAPK) that transmits signals from cell surfaces to nuclei concerning growth
factors, stress or cytokines responses. MAPK undergoes a cascade of phosphorylation events
upon stimulation leading up to gene expression regulation transcription factor activation. This
activity enables proliferation, differentiation as well as getting by with stresses thereby
achieving environmental adaptation necessary for homeostasis maintenance. (Tothova et al.,
2021)

PI3K-Akt pathway.

Figure: PI3K-Akt pathway. (Toren and Zoubeidi, 2014)

The PI3K-Akt pathway plays an important role in enabling cells to adapt to changes in their
surroundings, particularly with regards to growth, survival and metabolism. This signalling
process is stimulated by several stimuli, including insulin and various growth factors that
activate phosphoinositide 3-kinase (PI3K), which generates lipid second messengers leading
on Akt activation - a serine/threonine kinase. As an immediate result of this kindling activity,
Akt phosphorylates downstream targets involved in cell survival mechanisms like glucose
metabolism or protein synthesis ultimately ensuring adjustment of metabolic activities as
required under varying environmental conditions besides protecting the cells from
programmed death (apoptosis). (Tothova et al., 2021)

JAK-STAT pathway.

Figure: JAK-STAT pathway. (Mavink.com, 2014)

The JAK-STAT pathway plays an important role in facilitating cells' response to cytokines
and growth factors, thereby controlling immune responses, cell differentiation, and growth.
Upon binding of the receptor with cytokine molecules, JAK kinases are activated leading to
phosphorylation of STAT proteins. These phosphorylated STATs act as transcription factors
by dimerizing & translocating into the nucleus, consequently regulating gene expression that
is pertinent for immune function regulation along with other cellular mechanisms including
apoptosis and proliferation. This mechanism allows swift reaction by cells towards external
signals while being instrumental in governing adaptation against adverse surroundings. (Hu
et al., 2021)

Adaptive Cellular Responses.

Apoptosis.

Figure: Apoptosis. (Bloemberg and Quadrilatero, 2019)

Apoptosis is a systematically controlled method of programmed cell death, in which cells can
eliminate themselves in response to specific signals for preserving tissue homeostasis or
eliminating damaged ones. This procedure plays an essential role in various body functions
such as immune system efficacy, cancer prevention and development process preservation.
Throughout this course, the cellular modifications are clearly recognizable characterized by
cell shrinkage coupled with chromatin condensation DNA fragmentation subsequently
leading to apoptotic bodies' creation that eventually phagocytes engulfed. (Bloemberg and
Quadrilatero, 2019)

The activation activates two main pathways, intrinsic pathway triggered internally due to
stress signals like DNA damages while extrinsic path initiated through external stimuli such
as binding of ligands inducing apoptosis on surface receptors, both these paths end up
activating caspases ultimately disassembling cellular components without inflammation
simultaneously organizing orderly encompassing cessation of life cycle. (Bloemberg and
Quadrilatero, 2019)

Figure: Autophagy (Bloemberg and Quadrilatero, 2019)

Autophagy is an adaptive response that promotes cellular homeostasis by breaking down and
repurposing worn-out components. This mechanism becomes particularly active when cells
undergo stress, such as starvation or insufficient oxygen. To accomplish this task, the cell
forms autophagosomes vesicles with a double membrane, which surround damaged
organelles, malfunctioned proteins and other cytoplasmic particles before merging them into
lysosomes for degradation. (Bloemberg and Quadrilatero, 2019)

By recycling these materials to generate energy sources critical for essential functions of
cells' survival always remain available while avoiding accumulation of toxins & waste
products during times of hardship. While it helps prevent negative effects caused by
metabolic alterations, such as pathological disorders among others, significant dysregulation
may still occur. This can lead to a variety of conditions ranging from infectious diseases and
cancer to neurodegeneration, disrupting both molecular and organismal levels. Therefore,
maintaining proper functioning is crucial for preserving healthy physiological balance and
protecting against harm. (Bloemberg and Quadrilatero, 2019)
Role of RNA in Rapid Response.

Non-coding RNAs and their role in gene regulation.

Figure: Coding and Non-coding RNAs in the human genome. (Research Gate, n.d.)

Gene regulation is substantially impacted by long non-coding RNAs (lncRNAs), which

influence multiple facets of gene expression and nuclear architecture. These RNA molecules,
exceeding 200 nucleotides in length, can interact with chromatin to adjust the configuration
of chromosomes and mediate access for transcription machinery to genes. (Fernandes et al.,
2019)

LncRNAs function as either scaffolds that assemble distinct molecular components to control
the expression of specific genes, or guides that steer chromatin-modifying complexes towards
specific genomic regions. This mechanism is crucial in multiple physiological processes such
as cell differentiation and development, but its disruption has been associated with various
diseases including cancers and infectious disorders. (Fernandes et al., 2019)

Non-coding RNAs known as MicroRNAs (miRNAs) play a vital role in regulating gene
expression by operating at the post-transcriptional level. Typically, 22 nucleotides long, these
small RNAs bind to complementary sequences present on messenger RNA (mRNA) targets
resulting in either degradation or blocked translation. (Fernandes et al., 2019)

MiRNAs have an essential role in preserving physiology and affecting disease states by
regulating genes that play a crucial part in vital cellular pathways. Their specificity and
participation across numerous cellular processes render them worthy of scientific
investigation as potential diagnostic biomarkers for conditions such as infectious diseases or
cancers. (Fernandes et al., 2019)

Importance of mRNA stability and translation regulation.

mRNA stability.

Figure: mRNA stability. (Vargas-Blanco and Shell, 2020)

The stability of mRNA plays an important role in the swift cellular reaction to changes in
both environment and physiology. It is directly connected with how long the transcript
remains accessible for translation, thereby indirectly influencing protein synthesis quantity.
(Boo and Kim, 2020)

The stability of mRNA in cells can be managed as a feedback mechanism to various stimuli,
either through stabilizing or degrading specific mRNAs. This enables rapid adjustment in the
expression of genes. The response is favourable for cellular homeostasis and quick
adaptations towards changing conditions. For instance, during stressful situations, certain
mRNAs are stabilized ensuring that crucial proteins needed for survival continue production
while others degrade quickly promoting conservation of resources. (Boo and Kim, 2020)

Translation regulation.

Figure: Translation regulation. (Slideserve.com, 2024)

The control of protein synthesis from mRNA, known as Translation regulation, plays a
supportive role in ensuring the stability of mRNAs. This process is crucial to produce
proteins timely and adequately during stress or developmental changes. Cells often modify
translation initiation factors or utilize microRNAs (miRNA) to inhibit specific mRNAs'
translation rates in response to outside stimuli like nutrient availability or stress conditions
which enable them quickly alter their rate of this regulatory mechanism. (Boo and Kim,
2020)

Cells can adapt rapidly and effectively to changes in their environment by finely regulating
translation, which ensures efficient production of essential proteins while avoiding
unnecessary accumulation. Real-time regulation of translation is crucial for the cell's ability
to respond quickly and efficiently. (Boo and Kim, 2020)

Importance of Nucleic Acid Replication.

DNA Replication Mechanism.

Semi-conservative replication model.

Figure: Semi-conservative replication model of DNA. (CBSE Tuts, 2023)

In molecular biology, the semi-conservative replication model is a crucial principle

outlining the process in which DNA duplicates during cellular division. As per this
ideology, during DNA duplication, both parent strands of the original molecule split
apart and act as templates for producing new complementary strands through
synthesis. Consequently, one strand from the original parental DNA and a newly
synthesized strand are present in each of the two daughter DNA molecules developed.
This guarantees that every offspring cell obtain an accurate replication of genetic data,
upholding genome integrity through successive generations. (CBSE Tuts, 2023)

In 1953, James Watson and Francis Crick initially put forward this model. The
renowned Meselson-Stahl experiment conducted in 1958 later confirmed it. By using
nitrogen isotopes to tell apart old and new DNA strands, they provided strong
evidence proof that the replication of DNA is semi-conservative. Genetic stability is
crucially dependent on this replication technique, which enables accurate duplication
of genetic material along with error-checking and repair mechanisms. The semi-
conservative aspect of DNA replication plays a significant role in preserving the
integrity of the genetic code through successive cell generations, thereby ensuring the
life's continuation. (CBSE Tuts, 2023)

Enzymes.
DNA polymerase. helicase, ligase.

Figure: DNA polymerase. (Thapa, 2023)

During replication, DNA polymerases play a vital role in creating new strands of
DNA by attaching nucleotides to an existing template strand. Additionally, these
enzymes have inherent exonuclease capabilities that enable them to eliminate wrongly
incorporated nucleotides and correct errors. (Thapa, 2023)

E. coli, a type of prokaryotic cell, relies on DNA Polymerase I to handle the

processing of Okazaki fragments during lagging strand synthesis. Additionally, E. coli
employs DNA Polymerase II in its various efforts at repairing damaged or incorrect
genetic material and primarily utilizes DNA Polymerase III as its enzyme for
replicating its own DNA strands. (Thapa, 2023)

There are five main DNA polymerases in eukaryotic cells. These include alpha, which
has both 3' to 5' exonuclease and 5' to 3' polymerase activities for repair purposes;
beta, another repair enzyme; gamma, essential for replicating mitochondrial DNA;
delta, responsible for synthesizing the lagging strand with a focus on removing errors
via its 3′ to 5′ exonuclease activity and finally epsilon serves as the primary enzyme
that helps synthesize leading strands while also having both types of exo-activities.
Each type performs specific functions aimed at achieving precise and effective
replication or repairs of genetic materials. (Thapa, 2023)

DNA ligase.

Figure: DNA ligase. (Thapa, 2023)

DNA ligase is an important enzyme that plays a crucial role in both DNA replication
and repair. Its main function involves connecting strands of DNA by catalysing the
creation of phosphodiester bonds, which links nucleotides together. Through this
process, gaps in the DNA are sealed, completing its structure. This activity is
particularly vital during lagging strand replication where it joins Okazaki fragments
and when repairing damage to genetic material. To perform these tasks effectively,
energy from ATP hydrolysis fuels the formation of covalent bonds required for
maintaining integrity across multiple segments within one molecule. (Thapa, 2023)
DNA helicase.

Figure: DNA helicase. (Chauhan, 2019)

In DNA replication, the indispensable motor protein known as DNA helicase unwinds
the double-stranded DNA molecule by moving along the nucleic acid backbone in a
directional manner. By breaking hydrogen bonds between paired nucleotides, it
separates both strands at their origin of replication to form a forked structure called
replication fork. This energy-intensive mechanism is fueled by ATP hydrolysis and
 crucial for exposing single-stranded templates that ensure error-free and efficient
duplication of genetic material. (Thapa, 2023)

Importance of template-driven synthesis.

Accuracy and fidelity in genetic information transfer.

For the precise copying of genetic information during DNA replication, template-driven
synthesis plays a crucial role. This approach utilizes each original strand as a guide to
formulating an identical complementary one. By adhering to specific base pairing principles,
where adenine pairs up with thymine and guanine matches cytosine, this process guarantees
exact duplication without any errors preserving essential genetics for correct distribution
across generations. (Monttinen and Loytynoja, 2022)

DNA polymerases are responsible for constructing new DNA strands and possess the ability
to proofread genetic information. Through error detection and correction, these enzymes
lower the likelihood of mutations occurring, thereby preserving accuracy in genetic transfer.
It is essential that cells function accurately to maintain an organism's health, which depends
on stable long-term preservation of its genetic code. (Monttinen and Loytynoja, 2022)
Consequences of replication errors and mutations.

Figure: replication errors. (Temima, 2014)

Permanent mutations can result from replication errors that evade a cell's mismatch repair
systems. Certain mistakes, like wobble-induced replication errors, occur when nucleotides are
wrongly paired and not fixed. Over time, these mismatches become imprinted into DNA
during successive rounds of replication causing base substitutions in the genetic code; for
instance, C-G replacing A-T may happen triggering transition or transversion mutation with
Consequences on the organism caused by changes to its genes. (Pray, 2008)

Strand slippage, a different sort of replication mistake, can cause mutations involving the
insertion or deletion of genetic material in areas with repeated sequences. George
Streisinger's findings reveal that such changes arise when DNA polymerase slides off the
template strand and either adds an additional nucleotide or leaves out one altogether. These
inaccuracies become permanent if not corrected and disrupt gene decoding mechanisms while
potentially causing grave inheritable diseases or protein function changes. (Pray, 2008)

Aside from replication errors, mutations may also originate from natural changes or external
elements that harm DNA ahead of the replicating process. Although most such modifications
undergo fixing, there are some which remain and cause permanent mutations. Natural
transformations can surface due to typical body cell mechanisms like depurination or
deamination leading to a shift in the chemical configuration of DNA. If these shifts aren't
repaired before replication transpires, they might enter into the genetic sequence and create
disturbances in gene activities thereby contributing towards genetic disorders or other
abnormalities. (Pray, 2008)
Critical Evaluation.

Role of replication in growth, repair, and reproduction.

In order for cells to grow, repair and reproduce properly while maintaining the accuracy of
genetic content transmission, replication is essential. Cells go through several cycles of
division during growth phase which demands an accurate copy of genome within each new
cell. DNA Replication plays a significant role in enabling this process by replicating the
complete genomic blueprint so that every daughter cell gets identical set instructions for its
functioning. This entire procedure holds quite some importance when it comes to supporting
tissue function and developing multicellular organisms proficiently. (Biology Libre Texts,
2018)

Cellular repair is not only dependent on growth but also replication. Replication becomes
crucial when DNA undergoes damage either due to environmental factors or regular cellular
processes, requiring the cell to replicate its DNA so that restored sequences get accurately
copied into new cells. This safeguards against mutated/destroyed DNA from advancing
through multiple divisions of a cell's life cycle and potentially leading to severe illnesses such
as cancer. Moreover, replicating genetic material during reproduction (whether through
sexual or asexual means) plays an essential role in producing gametes with desirable qualities
for both continuity and variation of genes formation necessary for evolution and adaptation
mechanisms within organisms. (Stead and Bjedov, 2021)
Genetic diseases caused by replication errors.

Replication errors that cause mutations in critical genes are a common source of genetic
diseases. Cystic fibrosis and sickle cell anaemia, for instance, stem from specific point
mutations or base substitutions affecting essential proteins. The mutation responsible for
cystic fibrosis occurs in the CFTR gene and impairs chloride channel functionality causing
disruptions to ion balance and respiratory complications; while sickle cell anaemia results
from a single nucleotide variation within the haemoglobin gene producing abnormal red
blood cells leading to diverse health problems. (Pray, 2008)

A group of genetic disorders arises from mutations caused by strand slippage during DNA
replication, which result in additions or deletions. Certain forms of muscular dystrophy and
Huntington's disease are examples where nucleotide repeats expand within certain genes.
Specifically, an expanded CAG repeat in the HTT gene causes a dysfunctional protein
leading to progressive neurodegeneration in those with Huntington's disease. These types of
mutations can cause disruptions to gene function and reduce efficient protein synthesis that
led to debilitating effects on individuals suffering from these conditions. (Trzilova and
Tamayo, 2021)

The accumulation of different mutations due to replication errors can play a significant role
in the beginning of cancer. Base substitutions, insertions and deletions that affect tumour
suppressor genes as well as oncogenes, may lead to uncontrolled cell growth and progression
of serious tumours. One Gene example is TP53 which regulates Cell cycle activity, its
mutation results from DNA replication abnormalities observed across diverse cancers. The
gathering of these genetic irregularities emphasizes how critical precise mechanisms for
repairing damaged or distorted DNA are towards averting conditions such as cancer and other
hereditary diseases. (Trzilova and Tamayo, 2021)

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