Module 6
Information Transfer
OVERVIEW OF
GENETIC
INFORMATION
FLOW
Central Dogma of Molecular Biology
Proposed by Francis Crick, it explains how genetic
information flows from DNA to RNA to Protein.
KEY PROCESSES IN GENETIC INFORMATION FLOW
1.Replication:
1. DNA copies itself during cell
division.
2. Enzyme: DNA polymerase
3. Semi-conservative mechanism
2.Transcription:
1. DNA → RNA
2. Enzyme: RNA polymerase
3. Occurs in the nucleus (eukaryotes)
4. Produces: mRNA (messenger
RNA), tRNA, and rRNA
3.Translation:
1. mRNA → Protein
2. Occurs in the cytoplasm on
ribosomes
3. Involves: tRNA carrying amino
acids, ribosomal RNA, and
translation factors
Frederick Griffith’s Experiment (1928) – Discovery of the
Transforming Principle
Objective: To understand how bacteria cause
disease.
Organism used: Streptococcus pneumoniae,
which has two strains:
• S strain (Smooth): Virulent (has a
polysaccharide capsule, causes
disease).
• R strain (Rough): Non-virulent (no
capsule, does not cause disease).
Experimental observations:
▪ Live S strain → Mouse dies.
▪ Live R strain → Mouse survives.
▪ Heat-killed S strain → Mouse survives.
▪ Live R strain + heat-killed S strain →
Mouse dies, and live S strain
recovered.
Conclusion (Griffith’s
Experiment):
❑ A substance (later identified as
DNA) from the heat-killed
virulent S strain was taken up
by the live non-virulent R strain.
❑ This enabled the R strain to
acquire the virulent trait and
transform into the S-type, capable
of causing disease.
❑ The experiment demonstrated
that genetic traits can be
transferred between bacteria
through a heritable chemical
substance, laying the foundation
for the discovery that DNA is the
genetic material.
Avery, MacLeod, and McCarty (1944) – Identification of DNA as
the Transforming Substance
▪ Objective: To determine the chemical nature of
Griffith's "transforming principle."
▪ Approach:
▪ Used purified extract from heat-killed S strain.
▪ Treated extracts with different enzymes to
selectively destroy:
▪ Proteins (using protease)
▪ RNA (using RNase)
▪ DNA (using DNase)
▪ Results:
▪ Transformation occurred when treated with
protease and RNase.
▪ Transformation failed only when treated with
DNase.
▪ Conclusion:
▪ The transforming principle is DNA, not
protein or RNA.
▪ This was the first direct experimental proof
that DNA is the genetic material.
Hershey and Chase Experiment (1952) – Confirmation Using
Bacteriophages
▪ Objective: To confirm whether DNA or protein is the genetic
material using viruses.
▪ System used: Bacteriophage T2 (a virus that infects
bacteria).
▪ Strategy:
▪ Labeled viral DNA with radioactive phosphorus (32P), as
DNA contains phosphorus.
▪ Labeled viral protein with radioactive sulfur (35S), as
proteins contain sulfur (not DNA).
▪ Procedure: Allowed labeled phages to infect E. coli. After
infection, used a blender to separate viral coats from bacterial
cells. Measured radioactivity in the cells and in the
supernatant.
▪ Results:
▪ 32P was found inside the bacterial cells.
▪ 35S remained in the supernatant (outside the cells).
▪ Conclusion:
▪ DNA entered the bacteria and directed viral replication.
▪ Protein did not enter, confirming DNA is the genetic
material.
HIERARCHY OF DNA STRUCTURE
Single-Stranded DNA (ssDNA):The Primary Level
Definition: Single-stranded DNA is a linear polymer
composed of nucleotide monomers linked by
phosphodiester bonds.
Components of a Nucleotide:
• Phosphate group
• Deoxyribose sugar
• Nitrogenous base (Adenine, Thymine, Cytosine,
Guanine)
Physiological Relevance: ssDNA is transiently formed
during processes such as DNA replication, transcription,
and repair.
Flexibility: It lacks base-pairing, making it highly flexible
and susceptible to nucleases.
Secondary Structures: Can form hairpins or stem-loop
structures due to intrastrand base-pairing in certain
sequences.
Hairpins or stem-loop structure
Double-Stranded DNA (dsDNA)
Formation: Two complementary ssDNA
strands align in antiparallel orientation.
Base pairing via hydrogen bonds:
• A = T (2 H-bonds)
• G ≡ C (3 H-bonds)
Double Helix Characteristics:
• Distance between adjacent base pairs:
~0.34 nm
• 3.4 nm per helical turn
• Stabilized by hydrogen bonds and base
stacking interactions.
Biological Role: Encodes genetic
information and serves as a template for
replication and transcription.
Nucleosome: Tertiary Packaging of DNA
Definition: The nucleosome is the basic structural
unit of chromatin, consisting of DNA wrapped
around a histone octamer.
Composition:
• 147 base pairs of DNA
• Histone octamer: 2 copies each of H2A, H2B,
H3, and H4
• H1 histone (linker histone) binds to the linker
DNA region between two nucleosomes and to
the nucleosome core at the DNA entry and exit
sites. It stabilizes the nucleosome.
Functional Role:
• Compacts ~2 meters of genomic DNA into the
nucleus (~10 µm diameter)
• Regulates gene accessibility and epigenetic
modifications (e.g., acetylation, methylation)
Higher-Order Structures: Nucleosomes fold into
30 nm chromatin fibre, further looped and
scaffolded during mitosis.
From Nucleosome to
Chromosome: Chromatin Packing
▪ Beads-on-a-String (11 nm
fiber):Linear array of nucleosomes
(DNA wrapped around histone
octamers).Histone H1 binds to the linker
DNA and stabilizes the structure.
▪ 30 nm Fiber: Nucleosomes fold into a
more compact, helical fiber. This level of
compaction is mediated by linker
histone H1 and histone tail interactions.
▪ Looped Domains (~300 nm):The 30
nm fiber forms loops that attach to a
chromatin scaffold. These loops help in
spatial genome organization and gene
regulation.
▪ Metaphase Chromosome (~700 nm
fiber per chromatid):Looped domains
undergo further folding during mitosis.
Results in the highly condensed
structure of visible chromosomes.
CONCEPT OF GENETIC CODE
Each gene's code uses the four nucleotide bases of DNA: adenine (A), cytosine (C), guanine (G) and
thymine (T) — in various ways to spell out three-letter “codons” that specify which amino acid is needed at
each position within a protein.
Properties of genetic code
▪ Triplet Nature: 64 possible codons from 4^3
combinations of nucleotides.
▪ Degeneracy: Multiple codons can encode
the same amino acid (e.g., Leucine has 6
codons).
▪ Non-overlapping: Codons are read one
after another without overlapping.
▪ Unambiguous: Each codon specifies only
one amino acid.
▪ Universal: Consistent across most living
organisms with few exceptions.
Start and Stop Codons in
the Genetic Code
Start Codon:
▪ AUG is the universal start codon.
▪ Codes for methionine in
eukaryotes
▪ Signals the initiation of translation
by ribosomes.
Stop Codons:
▪ UAA, UAG, UGA are stop codons.
▪ Do not code for any amino acid.
▪ Signal the termination of protein
synthesis.
▪ Recognized by release factors,
not tRNA.
Biological Significance:
▪ Ensure proteins are synthesized
with correct boundaries.
▪ Errors in recognition can lead to
truncated or extended proteins,
affecting function.
Genetic Code
▪ For 20 amino acids there should be 20 codons.
▪ Each codon should have 3 nucleotides to impart specificity to each of the amino acid for a specific codon
▪ 1 Nucleotide: 4 combinations
▪ 2 Nucleotides: 16 combinations
▪ 3 Nucleotides: 64 combinations (Most suited for 20 amino acids)
▪ 64 codons in total and 3 out of these are Non-Sense codons.
▪ 61 codons for 20 amino acids
Functional Significance of the
Genetic Code
❑ Protein Synthesis: The genetic code ensures
that nucleotide sequences in genes are correctly
translated into functional proteins.
❑ Mutation Effects: Changes in codons (mutations)
can lead to altered amino acid sequences,
potentially causing diseases (e.g., sickle cell
anemia).
❑ Biotechnological Applications: Knowledge of
the code enables recombinant protein production,
gene editing (e.g., CRISPR), and synthetic
biology.
❑ Codon Optimization: Different organisms prefer
certain codons; optimizing codons enhances gene
expression in heterologous systems.
Universality of the Genetic Code
▪ The genetic code is remarkably conserved across all domains of life—bacteria, archaea, and eukaryotes—
which all use the same basic set of codon-to-amino acid assignments.
▪ This universality means that, for example, AUG codes for methionine and UUU codes for phenylalanine in
almost all known organisms, from Escherichia coli to Homo sapiens.
▪ The widespread conservation strongly suggests a common evolutionary origin of life, where the genetic
code was established in a universal ancestor and maintained throughout evolution.
▪ Despite this high degree of conservation, minor variations exist, often in specialized systems:
▪ In human mitochondria, the codon UGA, typically a stop codon in the standard code, encodes
tryptophan (Trp).
▪ AUA, which codes for isoleucine in the standard code, is read as methionine in human
mitochondria.
Degeneracy of Genetic code
▪ Degeneracy refers to the redundancy of the genetic
code, wherein more than one codon can specify the
same amino acid.
▪ This feature provides error tolerance in the
translation of genetic information.
▪ Key Facts:
▪ The genetic code consists of 64 codons (4⁴
combinations of A, U, G, and C).
▪ These codons encode 20 standard amino acids and
3 stop signals.
▪ As a result, many amino acids are encoded by
multiple codons.
▪ Examples of Degeneracy:
▪ Leucine (Leu): encoded by 6 codons (UUA,
UUG, CUU, CUC, CUA, CUG)
▪ Serine (Ser): encoded by 6 codons
▪ Arginine (Arg): encoded by 6 codons
▪ Glycine (Gly): encoded by 4 codons
Wobble Hypothesis
▪ The Wobble Hypothesis explains how a limited
number of tRNA molecules can recognize multiple
codons for the same amino acid during protein
synthesis.
▪ It states that the third base of a codon on mRNA
can pair with more than one base at the first
position of the tRNA anticodon. This "wobble"
pairing, which is less strict than the standard
Watson-Crick base pairing, allows for the
degeneracy of the genetic code.
▪ This contributes to:
▪ Minimizing the effect of point mutations—a
mutation in the third base may still result in the
same amino acid (silent mutation).
▪ Stability and efficiency in protein synthesis.
▪ Evolutionary flexibility without altering protein
function.
Gene Definition in Terms of
Recombination
▪ Genetic recombination refers to the process where
organisms exchange genetic material, resulting in
offspring with unique combinations of traits not
found in either parent. This exchange can occur
between different regions within the same
chromosome or between different chromosomes.
▪ Recombination involves the shuffling and mixing of
genetic information. This can happen during sexual
reproduction (meiosis) or through other
mechanisms like transformation, transduction, and
conjugation.
▪ Recombination is a major source of genetic
variation within populations, allowing for adaptation
to changing environments.
▪ Examples:
▪ Meiosis (Crossing Over): During
meiosis, homologous chromosomes
(paired chromosomes from the
mother and father) can exchange
segments of DNA through a
process called crossing over,
according to Nature. This results in
new combinations of alleles
(different versions of genes) on the
chromosomes.
▪ Bacteria: Bacteria can also
exchange genetic material through
mechanisms like transformation
(taking up DNA from the
environment), transduction (via
bacteriophages), and conjugation
(direct transfer between bacteria).
▪ Types of Recombination:
▪ Homologous Recombination: This is a
common type of recombination where
similar DNA sequences exchange
information.
▪ Non-homologous Recombination: This
type of recombination can occur between
DNA sequences that are not closely related.
▪ Significance:
▪ Evolutionary Adaptation: Recombination
provides raw material for natural selection
to act upon, leading to the evolution of new
traits and increased adaptability.
▪ Genetic Diversity: Recombination is
crucial for maintaining genetic diversity
within populations, making them more
resilient to environmental changes.
▪ Repair of DNA Damage: Recombination
can also play a role in repairing damaged
DNA.
Digital Imaging and Communications in Medicine (DICOM)
▪ Digital Imaging and Communications in Medicine (DICOM) is an international, nonproprietary
standard that specifies the protocols that are used to facilitate the exchange of medical images
and related data in healthcare systems.
▪ DICOM also defines the file formats for data management and assists in managing workflows in
image capturing processes like X-rays.
▪ The DICOM standard is concerned with five main functions in medical imaging: to transmit and
persist images and related data between endpoints; to query and retrieve files; to perform
specific actions like printing or archiving; to support digital imaging workflows; and to provide
high quality images for diagnostics.
▪ Before DICOM, radiologists relied on two-dimensional film scans and physically stored them
inside film jackets. Technology advancements in this realm brought about change resulting in
convenience, cost-savings, and better patient care. This standard has revolutionized the
radiology industry, encompassing many imaging modalities such as X-rays, computed
tomography (CT), magnetic resonance imaging (MRI), ultrasound, nuclear medicine, PET
scans, etc.
DICOM Image formats
▪ DICOM image files are sourced from different modalities, either standalone or integrated. DICOM
format files (or simply DICOM files) are stored with the file extension “.dcm.” DICOM can accept
other popular file formats such as JPEG, TIFF, GIF, and PNG.
▪ DICOM files cannot be opened on a personal computer without proper viewing software. It must
be opened with DICOM viewer software like InteleViewer or Enterprise Viewer.
▪ A DICOM file contains a header and image data sets combined into one file. The header consists
of tags such as patient demographics, including the patient’s name, date of birth, age, gender,
and more. The header can contain study parameters such as image dimensions, acquisition
parameters, pixel intensity, and matrix size.
▪ Exporting and sharing DICOM image files are necessary for the clinical workflow. One thing to
keep in mind is the large file size of DICOM files. For example, a single CT scan can be over 30
MB. Therefore, practitioners have the option to compress files using lossless or lossy technology.
Lossless compression reduces the file without diminishing the quality of the image. Lossless
compression file types are TIFF (Tagged Image File Format) and PNG (Portable Network
Graphics format). Lossy compression reduces the file size by eliminating some of the file
information. Lossy compression file types are JPEG (Joint Photographic Experts Group) and GIF
(Graphics Interchange format). Using modern DICOM viewers such as InteleViewer, practitioners
can convert DICOM to JPG with ease by exporting the file.
The DNA Technology (Use and Application) Regulation Bill, 2019
▪ The DNA Technology (Use and Application) Regulation Bill, 2019 was introduced in Lok Sabha
by the Minister for Science and Technology, Mr. Harsh Vardhan, on July 8, 2019. The Bill
provides for the regulation of use of DNA technology for establishing the identity of certain
persons. Note that the same Bill had been previously introduced in Lok Sabha in August 2018,
but lapsed.
▪ The purpose of this Bill is to expand the application of DNA-based forensic technologies to
support and strengthen the justice delivery system of the country. The utility of DNA based
technologies for solving crimes, and to identify missing persons, is well recognized across the
world. By providing for the mandatory accreditation and regulation of DNA laboratories, the Bill
seeks to ensure that with the proposed expanded use of this technology in this country, there is
also the assurance that the DNA test results are reliable, and furthermore that the data remain
protected from misuse or abuse in terms of the privacy rights of our citizens.
▪ The key components of this Bill include: establishment of a DNA Regulatory Board;
accreditation of DNA laboratories undertaking DNA testing, analyzing, etc.; establishment of
the National and Regional DNA Data Banks, as envisaged in the Bill, will assist in forensic
investigations. This will aid in scientific up-gradation and streamlining of the DNA testing
activities in the country with appropriate inputs from the DNA Regulatory Board which would be
set up for the purpose.
