Chromosomes, DNA, and Genes

Chromosomes are
threadlike structures Centromere
made of a protein Cell
called histone and DNA Nucleus Chromosome
molecule

Chromosomes exist in pair

in diploid organisms in DNA Sister
which one chromosome is chromatids
always inherited from the
mother and the other from
the father.

Gene (segment of DNA)

 Chromosomes, DNA, and Genes

DNA is in every cell in

your body.
Chromosomes are found Centromere
Cell
carrying your DNA in the
nucleus of your cells. Nucleus Chromosome
DNA looks like a spiral
staircase (double helix).
The rungs are base pairs
and the rails are sugar and
phosphate molecules.
DNA Sister
chromatids

Gene (segment of DNA)

 Chromosomes, DNA, and Genes

Gene:
Sections of the DNA
structure that contain the Centromere
Cell
set of instructions that
determine the Nucleus Chromosome
characteristics of an
organism are called genes.

Genes are the basic structural

and functional units of
DNA Sister
chromatids
inheritance in nature.

Genes pass from parents to offspring

during both sexual and asexual
reproduction through cell division.

each gene having its own unique

position on to chromosomes calledGene (segment of DNA)
locus / loci (plural).
 Diploid vs Haploid
• Diploid – a cell that Haploid – a cell that
contains homologous contains only a single
chromosomes (one set of chromosomes
from each parent) (one from either
 represented by the parent, not both);
symbol 2N represented by the
Found in somatic or symbol N or 1N
 Found in gametes or sex
body cells (ex. Skin, cells – sperm & egg
digestive tract) Example:
• Example : Humans  N =
Humans  2N = 23
46
• In diploid organisms,
chromosome exists in
pairs each members of
the pair are called
homologous
chromosomes.

 Homologous chromosomes,
are pairs of chromosomes
within the same cell that share non-sister chromatid
similar structural
characteristics, like length,
shape, centromere position,
and genetic content.
 The Function of DNA
DNA store all of the genetic information
that an organism needs to
Grow,
Reproduce,
Control the cell and survive.
DNA is responsible for carrying and
transmitting the hereditary materials
from parents to the offspring.
The transmission of this information from
the mother to daughter cells occurs through
the process of DNA replication during
cell division.
 DNA replication
 is the process by which DNA makes a copy of itself during
cell division.
 DNA has a unique property of replication or production of
carbon copies.
 This is essential for transfer of genetic information from one
cell to its daughters and from one generation to the next.
 DNA gives rise to RNAs through the process of transcription.
 DNA replication is a semiconservative, which means that
each strand in the DNA double helix acts as a template for
the synthesis of a new, complementary strand.
 In other words, the two original DNA strands separate during
replication; each strand then serves as a template for a new
DNA strand.
 Each newly synthesized double helix is a combination of one
old and one new DNA strand.
• Replication fork: A structure that forms
within the long helical DNA during DNA
replication is called replication fork. It is
the point formed due to unwinding and
separations of two strands appear like Y –
shaped fork is called replicating fork.
• Leading strand: the strand of new DNA,
which is synthesized in the same direction
as the growing replication fork.
• Lagging strand- the strand of new DNA
whose direction of synthesis is opposite to
the direction of the growing replication fork
 There are three stages in DNA replication.
These are:
Stage one - the DNA helix structure is unwound
and unzipped, hydrogen bonds between bases,
which are holding the two strands together break
and the double helix structure of the DNA
molecule separate in to two strands.
Stage two - The two separated strands will act
as templates for making the new strands of DNA.
• DNA polymerase will add the free DNA
nucleotides using complementary base pairing
(A-T and CG).
• One of the strands is synthesized in the same
direction as the growing replication fork (leading
strand).
• DNA polymerase adds nucleotides to the deoxyribose
(3’) ended strand in a 5’ to 3’ direction.
• The other strand synthesizes opposite to the
direction of the growing replication fork (lagging
strand).
• Stage three- The two new strands twist to form a
double helix. Each is identical to the original strand.
 The structure and function of RNA
 RNA is single stranded.
 Like DNA made of nucleotide and RNA contains
 the sugar ribose,
 phosphates, and
 the nitrogenous bases adenine (A), guanine (G), cytosine
(C) and uracil (U) which replaces thymine in DNA.
 There are three most well-known types of RNA in all
organisms.
 These are
 messenger RNA (mRNA),
 transfer RNA (tRNA) and
 RNA (rRNA).
 All types of RNAs are formed on DNA strands by
Figure 4.7 RNA Structure
 The function of RNA
 RNA is the most important molecule in all lives.
 RNA is involved in a variety of functions within
the cell and is found in all living organisms.
 RNA functions in protein synthesis and used as a
storage of genetic information in some viruses.
 RNA facilitates the translation of the DNA into
different proteins required by organisms.
 For example, it serves as a messenger in
conveying instructions between the DNA and the
ribosome during proteins synthesis.
Cell division
Q: WHY DO CELLS DIVIDE?
• To reproduce.
• To grow bigger.
• To repair injuries.
• Cell Division
• In cell division, each cell divides to make two cells and these two
cells then divide to make four cells, and so on.

Daughter cells
Cell

•The process that repeats in this way is called the cell cycle.
•The cell cycle is an ordered series of events that involve cell
growth and cell division to produce new daughter cells
•The cell cycle is the period from the formation of a new cell until that
cell divides itself
 The cell cycle
The cell cycle has two major phases:
interphase and
mitotic phase (M phase).
I. The Interphase
• Interphase is the period of
preparation for a cell to divide
• the cell undergoes
• normal growth processes,
• gathers nutrients and
energy
• The parent cell also makes a
copy of its DNA to share equally
between the two daughter
cells.
• Interphase has three
stages
1. G1 (first gap stage),
2. S (synthesis stage), and
3. G2 (second gap stage).
• More than 90% of the
life of a cell is spent in
this phase
1. The G1 Phase (First Gap)
• The G0 phase (resting phase), is a
phase in which the cell is neither
dividing nor preparing to divide
but performs regulatory and
basic cellular functions.
• G1 phase (first gap) is the first
stage of interphase in which the
cell is quite active at the
biochemical level.
• Chemical preparation for DNA
Synthesis (enzymes, deoxyribose
sugars, nucleotide bases and
phosphates synthesised)
• At G1phase, the cell
accumulates the building Cell Cell
blocks of chromosomal
DNA and the associated
proteins as well as
sufficient energy
reserves
• cell growth, development,
and protein production
(longest)
• Cell membrane (+ wall)
are increased
• Number of organelles
increase
2. The S Phase (Synthesis of
DNA)
• The S phase is a stage in
which DNA replication
proceeds to form identical
pairs of DNA molecules
(sister chromatids)
• In this phase the
centrosome duplicates
and centrioles develops to
help organize cell division.
3. G2 Phase (Second Gap)
• Cell builds up energy reserves
• Increased protein synthesis
• Organelles replicated (shortest)
• the cytoskeleton disintegrates to
provide resources for the mitotic
phase.
• The cell performs the final
preparations for the mitotic phase
to enter the first stage of mitosis

Q: What is cytoskeleton ?
• The cytoskeleton is a complex, dynamic network of interlinking
protein filaments present in the cytoplasm of all cells
• It helps cells maintain their shape and internal organization
II. M phase (mitotic phase)
Mitosis is the division of somatic
cells.
Somatic cells make up most of
your body's tissues and organs,
Including skin, muscles, lungs, gut,
and hair cells.
a cell duplicates all of its contents,
including its chromosomes and
organelles,
The first phase of the mitotic
phase is called karyokinesis
 the second phase is called
cytokinesis
Steps in Mitotic cell division
1. Prophase
• Longest phase of MITOSIS (50-
60 % of total time required for
mitosis)
• the nuclear envelope starts to
dissociate into small vesicles
where chromosomes become
more condensed, discrete, and
visible through compound
microscope and centrosomes
move to opposite poles .
• While mitotic spindle
microtubules also extend
between the centrosomes, sister
chromatids begin to coil more
tightly to develop a kinetochore
in the centromeric region.
• The kinetochore attracts and binds
mitotic spindle
• microtubules that extend from the
centrosomes and the sister
chromatids face the opposite poles.
• Moreover, organelles such as the
Golgi complex and endoplasmic
reticulum fragment disperse
toward the periphery of the cell.
• At the end, the sister chromatids
will be attached via their
kinetochores to microtubules from
opposing poles
2. Metaphase
• Metaphase is the second
step in the mitosis process.
• Chromosomes attach to
the spindle fibers
• All the chromosomes are
aligned at the metaphase
plate or the equatorial
plane, which is at the
middle of the cell between
the two poles of the cell.
• The sister chromatids are
still tightly attached to each
other by cohesion proteins
• 3. Anaphase
• Anaphase is the third step
of mitosis

• Centromeres split
centrioles
• Spindles retract and pull
sister chromatids apart

• Chromosomes move to
opposite poles (toward
centrioles)

Spindle
centrioles
4. Telophase
• Telophase is the fourth step
• the chromosomes reach the
opposite poles and begin to
decondense (unravel).
• The mitotic spindles are
depolymerized, the nuclear
envelopes form around the
chromosomes and nucleosomes
appear within the nuclear area.
Two diploid (2n)
daghter cells
• Cytokinesis : physical
separation of the cytoplasmic
components resulting in two
genetically identical daughter
cells
II. Meiosis
• Meiosis is another fundamental process for life.
• Meiosis is the division that produces sex cells
(gametes).
• Process of reduction division. Why?
Reduces the number of chromosome by half
 produces genetic variation through a process of
crossing over and independent assortment,
• It has two phases,
meiosis I and
Meiosis II,
• Meiosis cell division has eight stages (four
stages for each meiosis).
• By the end of Meiosis II, the 1 diploid cell
that entered meiosis has become 4 haploid
cells
A. Meiosis I
• In meiosis I, homologous chromosomes are
separated into two cells consisting of two
chromatids (chromosome pair) in each
daughter cell.
• Meiosis I is also called reduction division.
Steps of Meiosis-I
1. Prophase –I
• Prophase I is the first
step in meiosis-I
• chromosomes replicate
to form two sister
chromatids.
• nuclear envelope
disintegrates,
• the chromosomes
begin to condense and
spindle fibers appear.
• Non-sister chromatids of
homologous chromosomes
form chiasmata to exchange
genetic material .
• In this phase, homologous
chromosomes pair each
other (Synapsis) and
crossing over takes place.
• Crossing over increases genetic diversity
• Crossing over happens when parts of the homologues
chromosomes switch places after overlapping

Homologous
chromosomes Crossing over
in Non-sister
chromatids
2. Metaphase I
• the second step
• the pairs of chromosome
align next to each other along
the center (equator) of the
cell.
• When the pairs of
chromosomes line up
randomly, they align
themselves on either side of
the equator.
• The meiotic spindles extend
from centrioles at opposites
poles of the cell and attach to
one chromosome of each
pair
3. Anaphase I
• the third step
• the pair of chromosomes are
then pulled apart by the
meiotic spindle.
• Each of the homologous
chromosomes get pulled
towards opposite poles of the
cell as the spindle fibres
retract.
• This equally divides the DNA
between the two cells to be
formed (Diploid (2N )→
Haploid (N))
• Unlike what happens in mitosis
and meiosis II, the sister
chromatids stay together
4. Telophase I
• the fourth step the
chromosomes complete their
move to the opposite poles of
the cell.
• the spindle fibres disappear, the
nuclear envelope reforms and
• a membrane forms around
each set of chromosomes.
• Cytokinesis is the final
phenomenon of Meiosis I
• the single cell pinches in the
middle to form two separate
daughter cells
• each containing a half set of the
parent chromosomes within a
nucleus (haploid)
Meiosis II
 this division is like mitosis;
the number of chromosomes
does not get reduced
 Steps of Meiosis II
1. Prophase II
• first step in Meiosis II
• the chromosomes condense
again into visible X-shaped
structures
• the membrane around the
nucleus in each daughter cell
dissolves away releasing
chromosomes,
• the centrioles duplicate and
the meiotic spindle forms
again.
2. Metaphase II
• the second step in part
two of meiosis.
• Unlike metaphase I
where chromosomes line
up in homologous pairs,
sister chromatid line up
end-to-end in a single
line along the equator of
the cell.
• Meiotic spindle fibers
from the centrioles at
opposite poles attach to
each of the sister
3. Anaphase II
• the third step in part two
of meiosis
• sister chromatids are
pulled to opposite poles of
the equator due to the
action of the meiotic
spindle.
• The separated chromatids
are now individual
chromosomes
4. Telophase II
• fourth step in part two of meiosis
• chromosomes complete their move to the opposite poles
• a membrane forms around each set of chromosomes.
• Cytokinesis: producing 4 non identical haploid daughter cells

Meiosis creates 4 genetically

different gametes (haploid)
 3.3 Protein synthesis

How does a cell ‘know’ to make a

protein?
• The code for a protein is specified by DNA and has
to be carried to the ribosomes so that they can
assemble the amino acids in the correct sequence to
form the protein.
• However, DNA is a huge molecule and remains in
the nucleus at all times.
• The following events occur:
The DNA code for the protein is
rewritten in a molecule of
messenger RNA (mRNA); this
rewriting of the code is called
transcription.
• The mRNA travels from the
nucleus through pores in the
nuclear envelope to
theribosomes.
• Free amino acids are carried
from the cytoplasm to the
ribosomes by molecules of
transfer RNA (tRNA).
• The ribosome reads the mRNA
code and assembles the amino
acids carried by tRNA into a
protein; this is called translation.
 What is the genetic code like?
 The genetic code is held in the DNA molecule.
 it is the sequence of bases in the nucleotides of the DNA that
makes up a gene;
 that codes for the protein and
 each amino acid in the protein is coded for by a triplet
(sequence of three) of bases.
 A gene is a sequence of base triplets in the DNA
molecule that carries the code for a protein.
 With four different bases to work with (A,C,T,G), there are 64
possible triplet codes, but only 20 amino acids are used to make
all the different proteins.
 What is the purpose of the other 44 codes?
• In fact, none of these is spare or redundant.
• However, only one of the strands of the DNA molecule
carries the code for proteins. This is called the coding
strand or the sense strand.
• The other strand is the non-coding or antisense strand.
• Most amino acids have more than one code.
• Only methionine and tryptophan have just one triplet
that codes for them; arginine has six.
• Three of the triplets (TAA, TAG and TGA) do not
code for amino acids at all.
• They are ‘stop’ codes that signify the end of a coding
sequence.
• Because there is this extra capacity in the genetic code,
over and above what is essential, it is said to be a
degenerate code.
 Besides being a triplet and
degenerate code, the DNA code is
a non-overlapping code.
 The last base in one triplet cannot
also be the first base (or second
base) in another triplet.
 The genetic code is also a
universal code.
 This means that the triplet
TAT is the DNA code for the
amino acid tyrosine in a human, a
giant redwood tree, a bacterium
or in any other living organism.
 The 64 DNA triplets and
the amino acids they code
for. Notice the ‘stop’
codes.
In this method of
representing the genetic
code, start with one of the
‘biggest’ letters in the
center.
 This represents the first
base in the triplet.
 One of the four medium-
sized letters in the next
layer out represents the
second base and the
smallest letters represent
the third base in the triplet.
 Outside that is the name of
the amino acid for which
the triplet codes.
 So, ACC codes for threonine.
• In this method of representing the genetic code, start
with the letters at the left-hand side of the table.
• These represent the first base in the triplet.
• They define which row in the table to look in.
• The letters across the top represent the second base in the
triplet and define which column in the table to look in.
• The letters at the right of the table represent the third
base in the triplet and define which line in the row to
look in.
• So, again, A (third row), C (second column) and C
(second line) is the code for threonine and GGG the code
for glycine.
 How does transcription take place in eukaryotic cells?

 During this process, the coded information in the DNA of

one gene is used to synthesise a molecule of mRNA that will
carry the code to the ribosomes.
 mRNA is similar to DNA in that it is built from nucleotides;
however, it is different from DNA in a number of ways:
• it is a much smaller molecule
• it is single stranded
• the base thymine is replaced by uracil
• the sugar in the nucleotides is ribose, not deoxyribose.
 The triplets of bases in mRNA that code for amino acids are
called codons.
 The mRNA codons are identical to the DNA triplets that
code for specific amino acids, except that U (uracil) is
substituted for T (thymine).
• To form the single-stranded mRNA when
transcription takes place, only the antisense strand
of DNA is transcribed.
• This is because the sense strand of this section
contains the gene that codes for a protein.
• However, transcribing this would produce a
complementary sequence of bases, similar to those
in the antisense strand, which would not code for
anything.
Figure 3.48 Transcription in eukaryotic cells
In eukaryotic cells, transcription takes place in the
following way:
The enzyme DNA-dependent RNA polymerase
(RNA polymerase) binds with a section of DNA
next to the gene to be transcribed.
The enzyme begins to ‘unwind’ a section of DNA.
RNA polymerase moves along the antisense strand,
using it as a template for synthesising the mRNA.
 The polymerase assembles free RNA nucleotides into a
chain in which the base sequence is complementary to
the base sequence on the antisense strand of the DNA.
 This, therefore, carries the same triplet code as the
sense strand (except that uracil replaces thymine).
 The completed molecule leaves the DNA; the strands
of DNA rejoin and re-coil.
 How does translation take place?
 Translation of the mRNA code into a protein depends on the
interaction within a ribosome between mRNA and tRNA.
 All tRNA molecules have the same basic structure.
 The ‘cloverleaf ’ configuration of the molecule has at one
end a triplet of bases called an anticodon.
 This anticodon will be complementary to one of the mRNA
codons.
 The other end of the tRNA molecule has an attachment site
for the amino acid that is specified by the mRNA codon.
 Ribosomes are made from ribosomal RNA (rRNA) and
proteins organised into a large and a small subunit.
 Within the ribosome, there are three sites that can be
occupied by a tRNA molecule,called the A, P and E sites.
 The following events take place:
• The first two codons of the mRNA enter the ribosome.
• Transfer RNA molecules (with amino acids attached) that have
complementary anticodons to the first two codons of the mRNA
bind to those codons.
• A peptide bond forms between the amino acids carried by these
two tRNA molecules and the dipeptide is transferred to the
tRNA in the A site.
• The ribosome moves along the mRNA by one codon, bringing
the third codon into the ribosome; at the same time the ‘free’
tRNA exits the ribosome and the tRNA with the dipeptide moves
into the P site.
• A tRNA with a complementary anticodon binds with
the third codon, bringing its amino acid into position
next to the second amino acid.
• A peptide bond forms between the second and third
amino acids.
• The ribosome moves along the mRNA by one codon,
bringing the fourth mRNA codon into the ribosome,
and the whole process is repeated until a ‘stop’ codon
is in position and translation ceases.
Figure 3.51 Translation
• The translation of the mRNA code into a protein
molecule requires energy.
• However, this does not come from the hydrolysis of
ATP as is usual in a cell, but from the hydrolysis of
a similar molecule, GTP – Guanosine Triphosphate.
• It is hydrolysed to GDP and Pi in the same way as
ATP, with the release of a small amount of energy.
How is protein synthesis different in prokaryotic cells?
 The process is essentially similar in both types of cells, with DNA
being transcribed to mRNA, which is then translated to a
polypeptide chain.
 However, there are some differences and these are linked to the
fact that:
• prokaryotic cells do not have a nucleus
• prokaryotic mRNA does not need post-transcriptional
processing
• prokaryotes: transcription and translation are coupled; mRNA
can be translated by ribosomes at one end of its molecule while it is
still being transcribed from DNA at the other end
• eukaryotes: transcription and translation are separated
• transcription occurs in the nucleus
• translation occurs in the cytoplasm
• eukaryotic mRNAs are modified before leaving the nucleus
What becomes of the proteins that are synthesised?
• All our proteins are synthesised in the way just described, but all
our cells do not synthesise all our proteins as we shall see in the next
section.
Thank you!