Revision Notes for Class 12 Biology

Chapter 5 - Molecular Basis of Inheritance

The DNA

DNA (deoxyribonucleic acid) is a double helix structure that was cracked by Watson and
Crick based on the results of X-ray crystallography. Each strand of a DNA helix consists of
repeating nucleotide units. The nucleotide consists of 3 components: ribose or deoxyribose
sugar, nitrogen-based. which is either Purines or pyrimidines and phosphate.

Structure of Nucleotide

 There are two types of purines which are known as adenine, and guanine. There are three
types of pyrimidines: thymine, cytosine, and uracil.

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 All nucleotides are common in DNA and RNA, but uracil is found in RNA, and thymine
is only found in DNA.

 DNA is negatively charged due to the presence of negatively charged phosphate groups.
A nitrogenous base binds to the pentose sugar via the glycosidic bond.

 Two nucleotides join by a 3'5 'phosphodiester bond to form a dinucleotide. A polymer so

formed has a free phosphate group at the 5 'end of the ribose sugar known as the 5' end
of the polynucleotide chain. The other end of the polymer has a free 3'OH group of
ribose sugar.

 This is known as the 3 'end of the polynucleotide chain. The bond between sugars and
phosphates forms the backbone of a polynucleotide chain. The nitrogenous bases are
bound to the sugar content and protrude from the backbone.

The salient feature of the double helix structure of DNA is as follows-

 Two polynucleotides chains that are present, wrap around each other. Here, the backbone
is constituted by sugar-phosphate, and bases project inside.

 The two DNA chains are always antiparallel to each other. Antiparallel means that if one
chain has the polarity 5'-3', the other has 3'-5'.

 The bases which are present in the two strands are paired through hydrogen bonding
forming base pairs. Adenine form two hydrogen bonds with thymine whereas cytosine
forms three hydrogen bonds with guanine.

 The two strands are coiled in the right-handed pattern.

 The plane of one of the base pair stacks over the other in a double helix. This, in addition
to H-bonds, confers the stability of the helical structure.

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Packaging of DNA helix

Positively charged basic proteins that surround the DNA are known as histones. Histones are
found to be rich in basic amino acids such as lysine and arginine. Histones molecules are
organized in a specific manner to form a unit of eight molecules called histone octamer. The
DNA is negatively charged in nature and is packaged by wrapping around the positively
charged histone octamer. This forms a structure called a nucleosome. A nucleosome was
found to be containing 200 base pairs of DNA helix. Nucleosomes form a specific repeating
unit of a structure which is called chromatin in the nucleus. Chromatin is known to be a
thread-like stained body seen in the nucleus. The nucleosomes in chromatin appear as a
‘beads-on-string’ structure when viewed under an electron microscope (EM). The beads on
string structure in chromatin are packaged to form chromatin fibers that are further coiled
and condensed at the metaphase stage of cell division to form chromosomes. At the high
levels, chromatin packaging requires additional proteins. These proteins are the Non-Histone
Chromosomal (NHC) proteins. In a typical nucleus, a loosely packed region of chromatin
stains light and is referred to as euchromatin. The dense chromatin stains dark is called
Heterochromatin. The euchromatin is said to be transcriptionally active chromatin, whereas
heterochromatin is inactive.

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Packaging of DNA Helix
DNA as a Genetic Material

Griffith performed an experiment which is commonly known as the transforming experiment.

He used the two different strains of Pneumococcus. These two different strains were used to
infect the mice. The two strains which were used are type III-S (smooth), that contains outer
capsule made up of polysaccharide and type II-R (rough) strain do not contain capsule. The
capsule protects the bacteria from the host immune system.

Griffith Experiment

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The experiment of Griffith is explained below-

 The rough strain of Pneumococcus is injected into the mouse. The mouse is alive.

 The smooth strain of Pneumococcus is injected into the mouse. The mouse dies

 When the heat-killed smooth strain of Pneumococcus is injected into the mouse, the
mouse is alive.

 In the last set of experiments, rough strain, and heat-killed smooth strain are injected into
the mouse. The mouse dies.

 This proves that there is some transforming substance present in the heat-killed S strain
that is converting or transforming the rough strain into a virulent strain that is
responsible for the death of the mouse. The substance that was transformed. later found
to be DNA.

The Genetic Material is DNA

Alfred Hershey and Martha Chase in 1952 performed an experiment to prove that DNA is
the genetic material. They worked on bacteriophages, which are viruses that infect the
bacteria. It was found that when the bacteriophage attaches to the bacteria, its genetic
material enters into the bacterial cell. The viral genetic material uses the bacterial cell to
synthesize more viral particles. Hershey and Chase grew some viruses on a medium that
contained radioactive phosphorus and another medium that contained radioactive sulfur.
When phosphorus which was radioactive was present in the medium the viruses contained
radioactive DNA but not radioactive protein. This is due to the fact that DNA contains
phosphorus, but protein does not. Similarly, when the growth medium contained radioactive
sulfur the viruses contained radioactive protein but not radioactive DNA. This is because
DNA does not contain sulfur.

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 Hershey and Chase Experiment

These bacteria were only found to be radioactive when infected with viruses that contained
radioactive DNA. This indicates that DNA was the material that was transferred from the
virus to the bacteria. Bacteria which were infected with viruses containing radioactive
proteins were not radioactive. This indicates that the proteins did not get into the bacteria
from the virus. So DNA is the genetic material that is transferred from viruses to bacteria.
This experiment shows that DNA is the genetic material.

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The Central Dogma of Molecular Biology

It is an explanation of how genetic information transfer in a biological system. It tells us how

the DNA replicates and then transcribes into messenger RNA (mRNA). This mRNA will
now be translated to make proteins.

The Central Dogma of Molecular Biology

DNA Replication

DNA replication is the process by which two identical copies of DNA are made from a
single DNA molecule. As we know, DNA is a double helix in which two strands are
complementary to each other. These two strands of a helix separate at replication time to
form two new DNA molecules. Of the two DNA strands formed, one is identical to one of
the strands and the other is complementary to the original strand. This form of replication is
defined as semi-conservative replication. goes into mitosis, DNA replicates in the S phase of
the interface DNA polymerase is the most important enzyme involved in DNA replication is
an energy-dependent process During the replication process, the two DNA chains do not
separate completely, replication occurs within the small opening in the DNA helix known as

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the replication fork.DNA polymerase catalyzes the reaction in 5 'to 3' so that in one strand
(the template with 3'5 'polarity) the replication is continuous, while in the other (the template
with 5'3' polarity) the enzyme DNA ligase then binds to the discontinuously synthesized
fragments. The continuously synthesized strand is referred to as the main strand, while the
discontinuously synthesized strand is referred to as the lag strand. Replication begins at a
specific location in DNA known as the origin of replication.

DNA Replication

Transcription

It is a process of making RNA, like messenger RNA, from DNA before gene expression or
protein synthesis takes place. During transcription, one of the DNA strands acts as a template
for mRNA formation. The synthesis of mRNA is carried out by the enzyme RNA
polymerase. It generally occurs for a specific stretch of DNA that is most needed for gene

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expression. In addition to messenger RNA, other forms of RNA such as ribosomal RNA,
microRNA, small nuclear RNA can be transcribed in a similar way. It consists of the
following three regions: a promoter, a structural gene, and a terminator DNA-dependent
RNA polymerase catalyzes polymerase in the 5'3 'direction. The promoter is the region to
which the RNA polymerase binds. The terminator defines the end of the transcription.

Process of Transcription

Transcription consists of a total of three steps- initiation, elongation, and termination.

 Initiation is the step that involves the binding of RNA polymerase to the promoter. A
single type of DNA-dependent RNA polymerase catalyzes the transcription of all types
of RNA in bacteria.
 Elongation is the process of adding nucleotides to form RNA.

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 The termination factor helps in the termination of the transcription. The RNA
synthesized after transcription is called the primary transcript. The primary transcript
undergoes modifications such as splicing, coating, tailing, etc.
 The primary transcript consists of the introns and exons. Introns are known as splicing.
The addition of the polyA tail to the 3 'end of the RNA is referred to as the tail. When
capping, an unusual nucleotide (methylguanosine triphosphate) is attached to the 5 'end
of the RNA.
 Some viruses have the property of reverse transcription. You can convert RNA templates
into DNA. The enzyme used is known as reverse transcriptase.
 For example, the human immunodeficiency virus that causes AIDS."

Translation

This is the process of gene expression or protein synthesis, that occurs in the cytosol.
Ribosomes are known to be the cellular organelles that participate in protein synthesis.
Messenger RNA, made by the transcription process, is deciphered by ribosomes to form a
composite polypeptide. Of amino acids. Messenger RNA is made up of a polymer of
nucleotides, or codons. Each codon consists of 3 nucleotides that code for a single amino
acid. There are several important components involved in the synthesis of ribosome
proteins, messenger RNA, and transfer RNA (tRNA). Transfer RNA is involved in the
physical binding of mRNA and the amino acid sequence of proteins.

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 Translation

It involves 4 main steps-

 Activation of amino acids- amino acids bind to specific tRNA molecules.
 Initiation of the polypeptide synthesis- In the process of capping an unusual nucleotide
(methyl guanosine triphosphate) is added to the 5'-end of RNA
 Elongation of polypeptide synthesis- It involves the addition of amino acids to the
growing polypeptide chains

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 Termination of polypeptide synthesis- It involves the end of the translation of protein
synthesis.

Genetic code

The set of different rules according to which the information encoded in genetic material is
translated into proteins in living cells. The outstanding features of the genetic code are:

 The codon consists of 3 nucleotides. 61 codons code for 20 different types of amino
acids.

 1 codon codes for a single amino acid.

 1 amino acid can be encoded by more than one codon.

Genetic Code

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Regulation of Gene Expression

All the genes in the living cells are not active all the time. They become active when needed.
Expression is controlled by genes are known as regulatory genes. Regulation in the
eukaryotes can occur at the following different levels-

 Transcriptional level.

 Processing level.

 Transportation of mRNA from the nucleus to the cytoplasm.

 Translational level.

Lac Operon or Lactose Operon

An operon consists of structural genes, operator genes, promoter genes, promoter genes,
regulator genes, and repressors. Lac operon consist of lac Z, lac Y and lac A genes. Lac Z
codes for galactosidase, lac Y codes for permease, and lac A codes for transacetylase. When
repressor molecules are bound to the operator, genes are not transcribed. When the repressor
does not bind the operator and instead inducer binds, transcription is switched on. In the case
of the lac operon, lactose is an inducer. So, binding lactose to the operator, switch on the
transcription.

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 Lactose Operon

Human Genome Project

The most important and basic features of the Human Genome Project are:

 The human genome contains 3,164.7 million nucleotide bases.

 The average gene is 3000 bases, but the size varies.

 Humans are said to have around 30,000 genes.

 The functions of more than 50 percent of the discovered genes are unknown.

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 Less than 2 percent of the genome code for proteins.

 The human genome consists to a large extent of repetitive sequences.

 Chromosome 1 has the most genes (2968) and Y has the fewest (231).

Applications and Future Challenges in Genetic Research

Meaningful Knowledge from DNA Sequences:

 Research in the coming decades will focus on deriving significant insights from DNA
sequences.
 Understanding biological systems will be a major goal.

Collaboration Across Disciplines:

 The task will involve the expertise and creativity of scientists from various fields.
 Collaboration between public and private sectors worldwide will be crucial.

Impact of Whole-Genome Sequencing:

 Whole-genome sequences enable a new approach to biological research.
 Researchers can study entire genomes rather than focusing on individual genes.

High-Throughput Technologies:
 New technologies allow for systematic and large-scale investigations.
 Examples include studying all genes in a genome, all transcripts in specific tissues or
tumors, and analyzing interconnected networks of genes and proteins.

Systematic Approach to Research:

 Researchers can now address questions more comprehensively and broadly.

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 This approach facilitates a deeper understanding of the complex interactions within
biological systems.

DNA Fingerprinting

Human Genetic Similarity and Differences:

 99.9% of base sequences are identical among humans.
 With a genome of 3 × 10^9 base pairs, there are differences in a small fraction of
sequences, making each individual's DNA unique.

Challenges of Sequencing:
 Sequencing entire genomes to compare genetic differences is expensive and impractical.
 DNA fingerprinting offers a quicker, cost-effective method to compare DNA sequences.

Repetitive DNA and Satellite DNA:

 DNA fingerprinting focuses on repetitive DNA regions, where short DNA sequences are
repeated multiple times.
 These repetitive regions, known as satellite DNA, are separated from bulk DNA during
density gradient centrifugation.
 Satellite DNA includes micro-satellites and mini-satellites, which are highly variable and
form the basis of DNA fingerprinting.

DNA Polymorphism:
 Polymorphisms are genetic variations arising from mutations in DNA.
 High-frequency variations in non-coding DNA sequences are key to DNA fingerprinting
and genetic mapping.
 Mutations in non-coding regions accumulate over generations, contributing to genetic
diversity.

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DNA Fingerprinting Technique:
 Developed by Alec Jeffreys, initially used Variable Number of Tandem Repeats
(VNTRs) as probes.
Steps:
 Isolation of DNA
 Digestion with restriction endonucleases
 Separation by electrophoresis
 Blotting onto synthetic membranes
 Hybridization with labelled VNTR probes
 Detection by autoradiography

VNTRs and Mini-Satellites:

 VNTRs are a type of mini-satellite DNA with variable repeat numbers.
 The size of VNTRs varies, producing distinctive patterns of bands after hybridization.
 Patterns are unique to individuals, except for monozygotic twins.

Modern Advancements:
 Polymerase Chain Reaction (PCR) enhances sensitivity, allowing analysis from a single
cell.
 DNA fingerprinting is used in forensic science, population genetics, and determining
genetic diversity.

This technique has revolutionised forensic identification and genetic research by providing a
reliable method to analyze genetic differences and similarities among individuals.

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 DNA Fingerprinting

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