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CHAPTER #20
CHROMOSOMES AND DNA
1. Give general structure of chromosome.
Typically, a chromosome is made of:
• Two chromatids
• A centromere (primary constriction)
• A secondary constriction
2. How many chromosomes are present in sugarcane and Mosquito?
No. of Species No. of chromosomes
Species
chromosomes

Penicillium 2 (1 pair) Honey bee 32

Mosquito 6 Mouse 40

Drosophila 8 Human 46

Corn 20 Sugarcane 80

Frog 26 Some ferns More than 500 pairs

3. Define karyotype. Give its significance

The particular array of chromosomes that an individual possesses is called its
karyotype. A karyotype is the number and appearance of chromosomes in the
nucleus of a eukaryotic cell the term is also used for the complete set of
chromosomes in a species, or an individual Organism.
Significance
It tells the number of chromosomes, their appearance, their length, the position
of the centromeres, banding pattern and any other physical characteristics
4. Enlist and define different types of chromosomes (Metacentric, Sub-metacentric
acrocentric. Telocentric).
Chromosomes are of four types:
Metacentric
The chromosome having centromere in its centre. It acquires V-shape during cell
division.
Sub-metacentric
The chromosome having centromere near its centre. It acquires L-shape during
cell division.
Acrocentric
The chromosome having centromere near its one end. It acquires J shape during
cell division

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Telocentric
The chromosome having centromere at its one end. It acquires I-shape during
cell division

5. Give chemical composition of chromosomes.

Chromosomes are chemically composed of:
• Protein 60%
• DNA 40%
A significant amount of RNA is also associated with chromosomes, because these
are the sites of synthesis.
6. Define nucleosome and polysome
Nucleosome
It is the basic unit of DNA packaging in eukaryotes. Nucleosome is a complex
consisting of a segment of DNA wound around a protein core of eight histone
molecules.

Nucleosome Polysome
Polysome
A group of ribosomes attached to same chain of mRNA during protein synthesis
is called polysome. It is also called polyribosome.
7. Differentiate between euchromatin and heterochromatin.
Euchromatin Heterochromatin

• Less condensed portion of the • Highly condensed portion of

chromatin is called the chromatin is called
euchromatin heterochromatin.

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• It condenses only during cell • It remains permanently
division condensed
• Its genes (DNA) are expressed • Its genes (DNA) are never
expressed
8. How do histones and DNA interact with each other in chromosomes? OR Why
histones are positively charged? OR What is the importance of positive charge
on histones?
Histone proteins are positively charged due to abundance of basic amino acids
i.e. arginine and lysine in them. Thus, they are strongly attracted to the
negatively charged phosphate groups of DNA molecule. Therefore, histone cores
act as magnetic forms that promote and guide the coiling of the DNA around
them to form nucleosome. Coiling and recoiling of this basic structure lead to the
formation of chromosome.
9. Define chromosomal theory of inheritance
According to chromosomal theory of inheritance,
The genes are units of inheritance and located on chromosomes.
This theory was formulated by Walter Sutton in 1902. Later on T.H. Morgan
(1910) verified it Experimentally.
10. Define transformation and transforming principle. Write its importance
Transformation
The transfer of genetic material from one cell to another, which alters the genetic
makeup of the recipient cell, is called transformation.
Transformation produces genetic recombination in bacteria.
Transforming principle
The agent responsible for transformation is called as transforming principle. It
was found that DNA is the transforming principle.
11. What do you know about nuclein?
In 1869, Friedrich Miescher extracted a white substance from the nuclei of human
cells and fish sperm. He called this substance "nuclcin" because it seemed to be
specifically present in nucleus. Since nuclein was acidic, it came to be known as
nucleic acid.
12. Differentiate between purincs and pyrimidines
Purines Pyrimidines

• The large double-ringed • The small single-ringed

nitrogenous bases found in DNA nitrogenous bases found in DNA
or RNA, are called purines or RNA, are called Pyrimidines.
• Purines include adenine (A) and • Pyrimidines include cytosine
guanine (G) (C), thymine (T) and uracil (U)

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13. Draw the structural formulas of the following: Adenine, Guanine Uracil,
Thymine, Cytosine.

PURINES

PYRIMIDINES
14. What is phosphodiester bond? How it is formed?
The bond which links two consecutive nucleotides in nucleic acids is called
phosphodiester bond. It is formed when phosphate group of one nucleotide
binds to 3' hydroxyl group of the sugar of another nucleotide.

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15. What is the contribution of Rosalind Franklin in determination of DNA
structure?
Rosalind Franklin carried on an X-ray diffraction analysis of DNA. In this
analysis, a molecule is bombarded with a beam of X-rays. When individual rays
encounter atoms, their path is bent or diffracted and the diffraction pattern is
recorded on photographic film. When carefully analyzed this pattern gives the
three-dimensional structure of a molecule.
Rosalind Franklin prepared X-ray diffraction pattern of DNA in the laboratory
of Maurice Wilkins. The diffraction pattern suggested that DNA molecule had a
shape of a helix with a diameter of 2 nm and a complete helical turn every 3.4
nm.
16. Why is Erwin Chargaff famous for?
Erwin Chargaff showed that the amount of adenine (A) in DNA always equals
the amount of thymine (T) and
The mount of guanine (G) always equals that of cytosine (C). It also means that
there is always equal proportion of purines (A+G) and pyrimidines (C+T).
17. Compare three hypotheses of DNA replication
Conservative Semi-conservative
Dispersive replication
replication Replication

• The pattern of • The pattern of • The pattern of

replication in which replication in which replication in which
parental DNA duplex each strand of both each daughter DNA
remains intact and an daughter DNA molecule consists of
entirely new DNA molecules is a mixture one old (parental) and
molecule is formed is of old and new one new strand is
called conservative nucleotides is called called semi-
replication dispersive replication. conservative
• Both primary and • Both primary and replication.
secondary structures of secondary structures of • The primary structure
parental DNA are parental DNA duplex of parental DNA
conserved. are disrupted. duplex is conserved
while secondary
structure is disrupted.
• This was proposed by
Watson and Crick

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18. What is the importance of Meselson-Stahl experiment?

Meselson-Stahl experiment was performed to evaluate three hypotheses of DNA
replication. The experiment confirmed the prediction of Watson and Crick that
DNA replicates in semi-conservative manner.
19. What roles are played by three different types of DNA polymerases in E. coli?
There are three types of DNA polymerases in Escherichia coli:
DNA polymerase I - It plays a supporting role in DNA replication (replaces
RNA nucleotides with DNA nucleotides at RNA primer sites).
DNA polymcrase II- It repairs DNA.
DNA polymerase III- It is the true DNA replicating enzyme. It adds nucleotides
at the rate of 1000 nucleotides per second.
20. Define Okazaki fragments.
In DNA replication, the lagging strand is formed discontinuously as a series of
short fragments called Okazaki fragments. They are later connected by DNA
ligase.
Okazaki fragments are about 100-200 nucleotide long in eukaryotes and about
1000-2000 nucleotide long in prokaryotes.
They are named so after a Japanese scientist Okazaki who first studied them.
21. Differentiate between leading and lagging strand of DNA
Leading strand Lagging strand

• The new strand of DNA that • The new strand of DNA that
elongates towards the replication elongates away from the
fork during DNA replication is replication fork during DNA
called leading strand replication is called lagging
• It is formed continuously. strand
• It is formed discontinuously as a
series of short fragments

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22. What is RNA primer? What is its role in DNA replication?
RNA primer is a sequence of about 10 RNA nucleotides complementary to the
parent DNA template formed by an enzyme primase during DNA replication.
Role
DNA polymerase III cannot initiate synthesis of new DNA strand; it can add
nucleotides only to a chain of nucleotides that is already paired. For this purpose,
RNA primer is constructed with parent strand and then DNA polymerase start
adding nucleotides to form new DNA strand. At the end, RNA nucleotides are
replaced by DNA nucleotides by DNA polymerase I.
23. What is the role of DNA polymerase I and DNA ligase in replication process?
DNA polymerase I
DNA polymerase I is a relatively small enzyme that plays a supporting role in
DNA replication. It replaces RNA nucleotides with DNA nucleotides at RNA
primer sites.
DNA ligase
DNA ligase attaches the Okazaki fragments with each other, thus completing the
lagging strand.
24. Differentiate between wild type and mutant
Wild type Mutant

• An individual with normal • An individual which has

phenotype is called wild type. undergone mutation is called
• Wild type represents an organism mutant.
in its original natural state. • Mutant type represents an
e.g. Red eyed drosophila organism modified by mutation.
e.g. White-eyed drosophila

25. Explain one gene/one polypeptide hypothesis.

According to this hypothesis,
"Each gene encodes the structure of one polypeptide."
This concept was first given as one gene/one enzyme hypothesis by Beadle and
Tatum and was then changed to one gene/one polypeptide relationship on the
basis of further research.
26. Why is Vernon Ingram famous for?
Vernon Ingram (1956) discovered the molecular basis of sickle-cell anemia. He
showed that sickle-cell anemia is caused by a change of amino acid from
glutamic acid to valine at position 6 from N-terminal end of haemoglobin beta
chain. As a result, tertiary structure of haemoglobin molecule is disturbed,
reducing its ability to carry oxygen.
The allele which encodes abnormal haemoglobin differs only in specification of
one aminoacid.

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27. Define a gene
A sequence of nucleotide in DNA molecule that specifies the sequence of amino
acid in a polypeptide is called a gene.
Genes are units of inheritance and located within chromosomes.
28. What do you know about central dogma?
All organisms use the same basic method of reading and expressing genes called
central dogma.
It consists of two steps:
Transcription - the copying of information from DNA to mRNA
Translation the synthesis of polypeptide using the information present in mRNA
29. Define transcription. How it is initiated?
The process in which an RNA copy of the information contained in DNA is
formed is called transcription.
This is done by an enzyme called RNA polymerase. It is first step of DNA
expression and is followed by translation.
Initiation
The first step of transcription is the binding of RNA polymerase to the promoter
site of gene (DNA). One of the subunits of RNA polymerase called sigma factor
is responsible for correct initiation of transcription process.
30. Sketch two-dimensional structure of tRNA

31. What are three major classes of RNA?

There are three major classes. of RNA
Messenger RNA (MRNA)- It carries genetic information from DNA to ribosome
for the synthesis of polypeptide
Transfer RNA (tRNA)- It transfers aminoacids to the ribosome and position
them correctly to synthesize a polypeptide. Human cell contains 45 different
types of tRNA molecules.

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Ribosomal RNA (rRNA) - It forms the structure of ribosome which are the sites
of synthesis.
32. What is the role of RNA polymerase in transcription?
RNA polymerase is the enzyme which synthesizes RNA during the process of
transcription. It synthesizes RNA in 5'-+3' direction.
RNA polymerase consists of two parts:
Sigma factor
It is responsible for the correct initiation of transcription process.
Core enzyme
Once the transcription has started, the sigma factor is released and core enzyme
moves over the template strand and completes the transcription of the gene.
33. Differentiate between coding and template strand (Sense and anti-sense strand)
Template strand Coding strand

• The strand of DNA which is • The strand of DNA which is not

transcribed during transcription transcribed during transcription
is called template strand. is called coding strand.

• It is also called anti-sense (-) • It is also called sense (+) strand.

strand.
34. What is transcription bubble? How is it formed?
During transcription process, the two DNA strands open up at the site where
RNA polymerase attaches forming a loop called transcription bubble.
As the process of transcription goes on, this bubble moves down the DNA,
leaving the growing RNA strand protruding out from it.
35. Why a cap and a tail are added to eukaryotic mRNA?
In eukaryotes, mRNA is synthesized inside the nucleus. It has to travel a long
distance from inside of the nucleus to ribosome outside in the cytoplasm. mRNA
is therefore modified in several ways to aid this journey. A cap 7-methyl GTP is
linked 5' to 5' with mRNA and a tail Poly A tail is linked to 3' end of RNA. These
cap and tail save the mRNA from damage by nucleases and phosphatases.
36. What is genetic code?
The order of nucleotides in DNA molecule which specifies the order of amino
acids in a polypeptide is called genetic code.
The basic unit of genetic code is codon.
37. Whether genetic code is universal or not? Justify your answer.
The genetic code is universal. It is the same in almost all the organisms. For
example, AGA specifies arginine in bacteria, in humans and in all other
organisms. However, genetic code is not quite universal because mitochondrial
DNA has different genetic code. For example, UGA is normally a stop codon but
in mitochondria it reads as tryptophan.

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38. How Crick and his colleagues determined that how many nucleotides are used
to specify each amino acid?
Each amino acid is specified by a combination of three nucleotides, because a
two-nucleotide codon would not yield enough combinations to code for the 20
different amino acids that commonly occur in proteins. With four DNA
nucleotides (G, C, T, and A), only 42, or 16, different pairs of nucleotides could be
formed. However, these same nucleotides can be arranged in 42, or 64, different
combinations of three, more than enough to code for the 20 amino acids.
All the 64 codons were decoded and tested by Nirenberg, Leder and Khorana.
39. What are start and stop codons? Enlist.
Start codon (Initiation codon) Stop codon (Nonsense codon)

• Each gene starts with initiation • The codon which does not code
codon AUG called start codon. for any aminoacid is called stop
codon.
• Stop codons include UAA, UAG
• It initiates polypeptide synthesis and UGA.
as well as codes for an aminoacid
"methionine".
• It is located at the start of gene • It is present at the end of gene

40. Enlist non-sense codons and their function

The codon which does not code for any aminoacid is called stop codon or
nonsense codon. Its function is to terminate the synthesis of polypeptide during
translation.
Nonsense codons are: UAA, UAG and UGA.
41. Define translation.
The process in which a polypeptide is formed using the information contained in
mRNA is called translation.
It occurs in cytoplasm (eukaryotes). Three types of RNAS, ribosome, activating
enzymes, initiation factors; elongation factors, release factors etc. are involved.
42. Differentiate between codon and anticodon
Codon Anticodon

• A sequence of three nucleotides • A sequence of three nucleotides

on mRNA which specifies a on tRNA which is
particular aminoacid is called complementary to a codon on
codon. mRNA is called anticodon.
• It is present on mRNA • It is present on tRNA
43.

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44. Differentiate between translation and transcription
Transcription Translation

• The process in which an mRNA • The process in which a

copy of the information polypeptide is formed using the
contained in DNA is formed is information contained in mRNA
called transcription is called translation.
• It occurs in nucleoplasm • It occurs in cytoplasm
(eukaryotes) (eukaryotes).
• RNA polymerase is the main • Ribosomes, activating enzymes
enzyme involved in this process. factors, elongation factors, release
factors initiation.
etc. are involved

45. What are activating enzymes?

In the process of translation, particular tRNA molecules become attached to
specific aminoacids through the action of activating enzymes called aminoacyl-
tRNA synthetase.
There is a separate such enzyme to attach each of the twenty (20) common amino
acids. So, there are at least 20 types of activating enzymes.
46. What is the role of release factor in translation?
In the process of translation, when a nonsense codon is reached at the A site of
ribosome, it is recognized and bound by a protein called release factor (instead
of tRNA). This causes the newly "made polypeptide to release from the ribosome
thus ending the translation process.
47. Define sickle-cell anaemia.
It is a genetic disease characterized by abnormal haemoglobin. Because of a point
mutation, a change of amino acid occurs from glutamic acid to valine at position
6 from N-terminal end of haemoglobin beta chain. As a result, tertiary structure
of haemoglobin molecule is disturbed, reducing its ability to carry oxygen.
48. Define mutation. Give its causes
A permanent change in the DNA (genetic material) of an organism is called
mutation
Causes
It may be due to:
• Replication error
• Meiotic error
• Damage to DNA (caused by agents like radiations, chemicals, drugs,
toxins etc.)

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49. Define point mutation. Give an example
A mutation in which a single base
Example
In sickle cell anaemia, a point mutation occurs in the gene that codes for B-chain
of haemoglobin.
It changes the base sequence from CTT to CAT. This results in the formation of
abnormal beta chain which causes sickle-cell anaemia.
50. Differentiate between chromosomal aberration and point mitation.
Chromosomal aberration Point mutation

• The mega change involving • The change in the DNA

change in the number or involving one or a few base
structure of chromosomes is pairs is called point mutation
called chromosomal aberration. • It occurs due to replication error
• It may occur due to non- or damage to DNA.
disjunction during meiosis or e.g., Sickle-cell anaemia,
due to chromosomal breakage. phenylketonuria etc.
e.g., Down syndrome,
Klinefelter syndrome

51. What are mutagens? Give an example

The agents which cause permanent changes in cell's DNA are called mutagens.
Examples
Radiations (e.g., X-rays), Chemicals etc.
52. What is phenylketonuria? Write its symptoms
It is a disease in which phenylalanine is not degraded because of a defective
enzyme phenylalanine hydroxylase. Phenylalanine accumulates in the cells
leading to mental retardation because brain fails to develop in infancy.
Cause
It is caused by a point mutation in the gene encoding for phenylalanine
hydroxylase.

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