Biyani's Think Tank: Cell Biology & Genetics
Biyani's Think Tank: Cell Biology & Genetics
Biyani's Think Tank: Cell Biology & Genetics
Shikha Mathur
and
Abhilasha sharma
Lecturer
Deptt. of Science
Biyani Girls College, Jaipur
2
Published by :
Think Tanks
Biyani Group of Colleges
Edition : 2012
Price :
While every effort is taken to avoid errors or omissions in this Publication, any
mistake or omission that may have crept in is not intentional. It may be taken note of
that neither the publisher nor the author will be responsible for any damage or loss of
any kind arising to anyone in any manner on account of such errors and omissions.
Preface
Contents
S. No Chapter Name
1
Cell Structure
2 Cell Membrane
3
Nucleus
4 Nucleic Acid
5
Mendelism
6
Chromosomal Mutations
7
Cytoplasmic Inheritance
4 Glossary
5 MCQ
6 Case study
7 Previous question paper
Cell Biology and Genetics 5
Section A
Cell Structure
Q-1 Write down about structure and function of the animal cell.
Ans. The cell is the basic structural and functional unit of all known living organisms.
It is the smallest unit of life that is classified as a living thing, and is often called
the building block of life. Organisms can be classified as unicellular (consisting of
a single cell; including most bacteria) or multicellular (including plants and
animals). Humans contain about 10 trillion (1013) cells. Most plant and animal
cells are between 1 and 100 µm and therefore are visible only under the
microscope.
The word cell comes from the Latin cellula, meaning "a small room". The
descriptive term for the smallest living biological structure was coined by Robert
Hooke in a book he published in 1665 when he compared the cork cells he saw
through his microscope to the small rooms monks lived in.
Prokaryotic cells
6
The prokaryote cell is simpler, and therefore smaller, than a eukaryote cell,
lacking a nucleus and most of the other organelles of eukaryotes. There are two
kinds of prokaryotes: bacteria and archaea; these share a similar structure.
On the outside, flagella and pili project from the cell's surface. These are
structures (not present in all prokaryotes) made of proteins that facilitate
movement and communication between cells;
Enclosing the cell is the cell envelope – generally consisting of a cell wall covering
a plasma membrane though some bacteria also have a further covering layer
called a capsule. The envelope gives rigidity to the cell and separates the interior
of the cell from its environment, serving as a protective filter. Though most
prokaryotes have a cell wall, there are exceptions such as Mycoplasma (bacteria)
and Thermoplasma (archaea). The cell wall consists of peptidoglycan in bacteria, and
acts as an additional barrier against exterior forces. It also prevents the cell from
expanding and finally bursting (cytolysis) from osmotic pressure against a
hypotonic environment. Some eukaryote cells (plant cells and fungi cells) also
have a cell wall;
Inside the cell is the cytoplasmic region that contains the cell genome (DNA) and
ribosomes and various sorts of inclusions. A prokaryotic chromosome is usually a
circular molecule (an exception is that of the bacterium Borrelia burgdorferi, which
causes Lyme disease). Though not forming a nucleus, the DNA is condensed in a
nucleoid. Prokaryotes can carry extrachromosomal DNA elements called plasmids,
which are usually circular. Plasmids enable additional functions, such as
antibiotic resistance.
Cell Biology and Genetics 7
Eukaryotic cells
Plants, animals, fungi, slime moulds, protozoa, & algae are all Eukaryotic. These
cells are about 15 times wider than a typical prokaryote and can be as much as
1000 times greater in volume. The major difference between prokaryotes and
eukaryotes is that eukaryotic cells contain membrane-bound compartments in
which specific metabolic activities take place. Most important among these is a
cell nucleus, a membrane-delineated compartment that houses the eukaryotic
cell's DNA. This nucleus gives the eukaryote its name, which means "true
nucleus." Other differences include:
Subcellular components
All cells, whether prokaryotic or eukaryotic, have a membrane that envelops the
cell, separates its interior from its environment, regulates what moves in and out
(selectively permeable), and maintains the electric potential of the cell. Inside the
membrane, a salty cytoplasm takes up most of the cell volume. All cells possess
Cell Biology and Genetics 9
DNA, the hereditary material of genes, and RNA, containing the information
necessary to build various proteins such as enzymes, the cell's primary
machinery. There are also other kinds of biomolecules in cells. This article lists
these primary components of the cell, then briefly describe their function.
Membrane
The cytoskeleton acts to organize and maintain the cell's shape; anchors
organelles in place; helps during endocytosis, the uptake of external materials by
a cell, and cytokinesis, the separation of daughter cells after cell division; and
moves parts of the cell in processes of growth and mobility. The eukaryotic
cytoskeleton is composed of microfilaments, intermediate filaments and
microtubules. There is a great number of proteins associated with them, each
controlling a cell's structure by directing, bundling, and aligning filaments. The
prokaryotic cytoskeleton is less well-studied but is involved in the maintenance of
cell shape, polarity and cytokinesis.[6]
Genetic material
Two different kinds of genetic material exist: deoxyribonucleic acid (DNA) and
ribonucleic acid (RNA). Most organisms use DNA for their long-term information
storage, but some viruses (e.g., retroviruses) have RNA as their genetic material.
The biological information contained in an organism is encoded in its DNA or
RNA sequence. RNA is also used for information transport (e.g., mRNA) and
enzymatic functions (e.g., ribosomal RNA) in organisms that use DNA for the
genetic code itself. Transfer RNA (tRNA) molecules are used to add amino acids
during protein translation.
Cell Biology and Genetics 11
Prokaryotic genetic material is organized in a simple circular DNA molecule (the
bacterial chromosome) in the nucleoid region of the cytoplasm. Eukaryotic
genetic material is divided into different, linear molecules called chromosomes
inside a discrete nucleus, usually with additional genetic material in some
organelles like mitochondria and chloroplasts (see endosymbiotic theory).
A human cell has genetic material contained in the cell nucleus (the nuclear
genome) and in the mitochondria (the mitochondrial genome). In humans the
nuclear genome is divided into 23 pairs of linear DNA molecules called
chromosomes. The mitochondrial genome is a circular DNA molecule distinct
from the nuclear DNA. Although the mitochondrial DNA is very small compared
to nuclear chromosomes, it codes for 13 proteins involved in mitochondrial
energy production and specific tRNAs.
Organelles
The human body contains many different organs, such as the heart, lung, and
kidney, with each organ performing a different function. Cells also have a set of
"little organs," called organelles, that are adapted and/or specialized for carrying
out one or more vital functions. Both eukaryotic and prokaryotic cells have
organelles but organelles in eukaryotes are generally more complex and may be
membrane bound.
12
There are several types of organelles in a cell. Some (such as the nucleus and golgi
apparatus) are typically solitary, while others (such as mitochondria, peroxisomes
and lysosomes) can be numerous (hundreds to thousands). The cytosol is the
gelatinous fluid that fills the cell and surrounds the organelles.
Cell nucleus – eukaryotes only - A cell's information center, the cell nucleus is
the most conspicuous organelle found in a eukaryotic cell. It houses the cell's
chromosomes, and is the place where almost all DNA replication and RNA
synthesis (transcription) occur. The nucleus is spherical and separated from
the cytoplasm by a double membrane called the nuclear envelope. The nuclear
envelope isolates and protects a cell's DNA from various molecules that could
accidentally damage its structure or interfere with its processing. During
processing, DNA is transcribed, or copied into a special RNA, called
messenger RNA (mRNA). This mRNA is then transported out of the nucleus,
where it is translated into a specific protein molecule. The nucleolus is a
specialized region within the nucleus where ribosome subunits are assembled.
In prokaryotes, DNA processing takes place in the cytoplasm.
Ribosomes: The ribosome is a large complex of RNA and protein molecules. They
each consist of two subunits, and act as an assembly line where RNA from the
nucleus is used to synthesise proteins from amino acids. Ribosomes can be found
either floating freely or bound to a membrane (the rough endoplasmatic
reticulum in eukaryotes, or the cell membrane in prokaryotes).
Vacuoles: Vacuoles store food and waste. Some vacuoles store extra water. They
are often described as liquid filled space and are surrounded by a membrane.
Some cells, most notably Amoeba, have contractile vacuoles, which can pump
water out of the cell if there is too much water. The vacuoles of eukaryotic cells
are usually larger in those of plants than animals.
Many cells also have structures which exist wholly or partially outside the cell
membrane. These structures are notable because they are not protected from the
external environment by the impermeable cell membrane. In order to assemble
these structures export processes to carry macromolecules across the cell
membrane must be used.
Cell wall
Many types of prokaryotic and eukaryotic cell have a cell wall. The cell wall acts
to protect the cell mechanically and chemically from its environment, and is an
additional layer of protection to the cell membrane. Different types of cell have
cell walls made up of different materials; plant cell walls are primarily made up
of pectin, fungi cell walls are made up of chitin and bacteria cell walls are made
up of peptidoglycan.
16
Prokaryotic
Capsule
A gelatinous capsule is present in some bacteria outside the cell membrane and
cell wall. The capsule may be polysaccharide as in pneumococci, meningococci or
polypeptide as Bacillus anthracis or hyaluronic acid as in streptococci. Capsules
are not marked by normal staining protocols and can be detected by special stain.
Flagella
Flagella are organelles for cellular mobility. The bacterial flagellum stretches from
cytoplasm through the cell membrane(s) and extrudes through the cell wall. They
are long and thick thread-like appendages, protein in nature. Are most commonly
found in bacteria cells but are found in animal cells as well.
Fimbriae (pili)
They are short and thin hair like filaments, formed of protein called pilin
(antigenic). Fimbriae are responsible for attachment of bacteria to specific
receptors of human cell (adherence). There are special types of pili called (sex pili)
involved in conjunction.[citation needed]
Functions
Between successive cell divisions, cells grow through the functioning of cellular
metabolism. Cell metabolism is the process by which individual cells process
nutrient molecules. Metabolism has two distinct divisions: catabolism, in which
the cell breaks down complex molecules to produce energy and reducing power,
and anabolism, in which the cell uses energy and reducing power to construct
complex molecules and perform other biological functions. Complex sugars
consumed by the organism can be broken down into a less chemically complex
sugar molecule called glucose. Once inside the cell, glucose is broken down to
make adenosine triphosphate (ATP), a form of energy, through two different
pathways.
Cell Biology and Genetics 17
The first pathway, glycolysis, requires no oxygen and is referred to as anaerobic
metabolism. Each reaction is designed to produce some hydrogen ions that can
then be used to make energy packets (ATP). In prokaryotes, glycolysis is the only
method used for converting energy.
The second pathway, called the Krebs cycle, or citric acid cycle, occurs inside the
mitochondria and can generate enough ATP to run all the cell functions.
Within the nucleus of the cell (light blue), genes (DNA, dark blue) are transcribed
into RNA. This RNA is then subject to post-transcriptional modification and
control, resulting in a mature mRNA (red) that is then transported out of the
nucleus and into the cytoplasm (peach), where it undergoes translation into a
protein. mRNA is translated by ribosomes (purple) that match the three-base
codons of the mRNA to the three-base anti-codons of the appropriate tRNA.
Newly synthesized proteins (black) are often further modified, such as by binding
to an effector molecule (orange), to become fully active.
18
Creation
Cell division involves a single cell (called a mother cell) dividing into two daughter
cells. This leads to growth in multicellular organisms (the growth of tissue) and to
procreation (vegetative reproduction) in unicellular organisms.
Protein synthesis
Cells are capable of synthesizing new proteins, which are essential for the
modulation and maintenance of cellular activities. This process involves the
formation of new protein molecules from amino acid building blocks based on
information encoded in DNA/RNA. Protein synthesis generally consists of two
major steps: transcription and translation.
Movement or motility
Cells can move during many processes: such as wound healing, the immune
response and cancer metastasis. For wound healing to occur, white blood cells
and cells that ingest bacteria move to the wound site to kill the microorganisms
that cause infection.
Cell Biology and Genetics 19
At the same time fibroblasts (connective tissue cells) move there to remodel
damaged structures. In the case of tumor development, cells from a primary
tumor move away and spread to other parts of the body. Cell motility involves
many receptors, crosslinking, bundling, binding, adhesion, motor and other
proteins.[8] The process is divided into three steps – protrusion of the leading edge
of the cell, adhesion of the leading edge and de-adhesion at the cell body and
rear, and cytoskeletal contraction to pull the cell forward. Each step is driven by
physical forces generated by unique segments of the cytoskeleton.[9][10]
Q-3 Write down the difference between prokaryotic and eukaryotic cell
Ans.
20
Cell Biology and Genetics 21
Cell Membrane
Q.1 Write down about structure and function of the cell membrane.
Ans. The cell membrane made-up of lipids, proteins, and carbohydrates.
Lipids
Lipid molecules are insoluble in water. Lipids are hydrophobic because the
molecules consist of long, 18-22 carbon, hydrocarbon backbones with only a small
amount of oxygen containing groups. Lipids are responsible for many functions
in organisms. They are one of the major components of waxes, pigments, steroid
hormones, and cell membranes. Fats, steriods, and phospholipids are very
important in the functioning of cell membranes.
Fats (triacylglycerols)
An unsaturated fat has at least one unsaturated fatty acid whereas a saturated fat
has none. Becuase the double bond of the unsaturated fatty acid introduces kinks
in the hydrocarbon backbone the fat will not pack into a regular structure and
thus remain fluid at low temperatures. A saturated fat though will pack well and
be a solid a low temperatures.
Fats play important role in energy storage and as insulating molecules. Per gram,
fats contain twice as much energy as carbohydrates. Layers of fat also surround
Cell Biology and Genetics 23
the vital organs of animals to provide cushion them, insulation is also provide by
layers of under the skin of animals.
Phospholipids
Phospholipids contain only two fatty acid tails attached to a glycerol head. This
occurs by a condensation reaction similar to the one discussed above. The third
alcohol group of the glycerol is attached to a phoshpate molecule. The phoshate
group is then attached to other small moluecules such as choline. The phosphate
group along with the glycerol group make the head of the phospholipid
hydrophillic, whereas the fatty acid tail is hydrophobic. Thus phospholipids are
amphipatic: water loving and water hating. When phospholipids are in an
aqueous solution they will self assemble into micelles or bilayers, structures that
exclude water molecules from the hydrophobic tails while keeping the
hydrophillic head in contact with the aqueous solution.
Phospholipids serve a major function in the cells of all organisms: they form the
phospholipid membranes that surrounds the cell and intracellular structures
such as the mitochondria. The cell membrane is a fluid, semi-permeable bilayer
that seperates the cell's contents of from the environment, see animation below.
The membrane is fluid at physiological temperatures and allows cells to change
shape due to physical constraints or changing cellular volumes. The phospholipid
membrane allows free difusion of some small molecules such as oxygen, carbon
dioxide, and small hydrocarbons, but not water, charged ions, or other larger
molecules such as glucose. This semi-permeable nature of the membrane allows
24
the cell to maintain the composition of the cytosol independent of the external
environm
Steroids
The steroids are from lipid family and based on a molecule with four fused
carbon rings. This plays an important role in many hormones of animals and
cholesterol. Cholesterol is an important component of the cell membrane in
animals and functions to maintain membrane fluidity becuase it prevents packing
of the fatty acid tails.
Facilitative Diffusion:-
Facilitated diffusion, also called carrier-mediated diffusion, is the movement of
molecules across the cell membrane via special transport proteins that are
embedded within the cellular membrane. Many large molecules, such as glucose,
are insoluble in lipids and too large to fit through the membrane pores. Therefore,
it will bind with its specific carrier proteins, and the complex will then be bonded
to a receptor site and moved through the cellular membrane. Bear in mind,
however, that facilitated diffusion is a passive process, and the solutes still move
down the concentration gradient
28
Filtration :-
Molecules across the cell membrane due to hydrostatic pressure generated by the
cardiovascular system. Depending on the size of the membrane pores, only
solutes of a certain size may pass through it. For example, the membrane pores of
the Bowman's capsule in the kidneys are very small, and only albumins, the
smallest of the proteins, have any chance of being filtered through. On the other
hand, the membrane pores of liver cells are extremely large, to allow a variety of
solutes to pass through and be metabolized.
Osmosis:-
Osmosis is the diffusion of water molecules across a selectively permeable
membrane. The net movement of water molecules through a partially permeable
membrane from a solution of high water potential to an area of low water
potential. A cell with a less negative water potential will draw in water but this
depends on other factors as well such as solute potential (pressure in the cell e.g.
solute molecules) and pressure potential (external pressure e.g. cell wall). Because
the cell wall is a wall around the wall of a cell of a cell like a cell membrane.
Cell Biology and Genetics 29
Cytoplasmic Organelles
Function
Mitochondria are organelles appearing in all eukaryotic cells which produce ATP
as useful energy for the cell by oxidative phosphorylation. The proteins for the
adenosine 5'-triphosphate (ATP)-generating electron transport of the respiration
chain are located in the inner mitochondrial membrane. Mitochondria contain
many enzymes of the citric acid cycle and for fatty acid β-oxidation. Many of
them are coded for by nuclear DNA.
Energy production
The main function of the mitochondrion is the production of energy, in the form
of adenosine triphosphate (ATP). The cell uses this energy to perform the specific
work necessary for cell survival and function.
The raw materials used to generate ATP are the foods that we eat, or tissues
within the body that are broken down in a process called catabolism. The breaking
down of food into simpler molecules such as carbohydrates, fats, and protein is
called metabolism. These molecules are then transferred into the mitochondria,
where further processing occurs. The reactions within the mitochondria produce
specific molecules that can have their electrical charges separated within the inner
mitochondrial membrane. These charged molecules are processed within the five
electron transport chain complexes to finally combine with oxygen to make ATP.
The process of the charged substances combining with oxygen is called oxidation,
while the chemical reaction making ATP is called phosphorylation. The overall
process is called oxidative phosphorylation. The product produced by this process is
ATP.
Cell-specific functions :
Other functions of mitochondria are related to the cell type in which they are
found. Mitochondria are involved in building, breaking down, and recycling
products needed for proper cell functioning. For example, some of the building
blocks of DNA and RNA occur within the mitochondria. Mitochondria are also
involved in making parts of blood and hormones such as estrogen and
testosterone. They are required for cholesterol metabolism, neurotransmitter
metabolism, and detoxification of ammonia in the urea cycle. Thus, if
mitochondria do not function properly, not only energy production but also cell-
specific products needed for normal cell functioning will be affected.
Q-3 What is electron transport system?
Ans Eelectron transport chain (ETC) couples electron transfer between an electron
donor (such as NADH) and an electron acceptor (such as O2) with the transfer of
H+ ions (protons) across a membrane. The resulting electrochemical proton
gradient is used to generate chemical energy in the form of adenosine
triphosphate (ATP). Electron transport chains are the cellular mechanisms used
for extracting energy from sunlight in photosynthesis and also from redox
reactions, such as the oxidation of sugars (respiration).
Cell Biology and Genetics 33
In chloroplasts, light drives the conversion of water to oxygen and NADP+ to
NADPH with transfer of H+ ions across chloroplast membranes. In mitochondria,
it is the conversion of oxygen to water, NADH to NAD+ and succinate to
fumarate that generates a proton. Electron transport chains are major sites of
premature electron leakage to oxygen, generating superoxide and potentially
resulting in increased oxidative stress.
Complex I
Complex II
Complex III
Complex IV
Section B
Nucleus
Chromosomes vary widely between different organisms. The DNA molecule may
be circular or linear, and can be composed of 100,000 to 10,000,000,000[1]
nucleotides in a long chain. Typically, eukaryotic cells (cells with nuclei) have
large linear chromosomes and prokaryotic cells (cells without defined nuclei)
have smaller circular chromosomes, although there are many exceptions to this
rule. Also, cells may contain more than one type of chromosome; for example,
mitochondria in most eukaryotes and chloroplasts in plants have their own small
chromosomes.
Nucleic Acid
DNA consists of two long polymers of simple units called nucleotides, with
backbones made of sugars and phosphate groups joined by ester bonds. These
two strands run in opposite directions to each other and are therefore anti-
parallel. Attached to each sugar is one of four types of molecules called
nucleobases (informally, bases). It is the sequence of these four nucleobases along
the backbone that encodes information. This information is read using the genetic
code, which specifies the sequence of the amino acids within proteins. The code is
read by copying stretches of DNA into the related nucleic acid RNA in a process
called transcription.
Within cells DNA is organized into long structures called chromosomes. During
cell division these chromosomes are duplicated in the process of DNA replication,
providing each cell its own complete set of chromosomes. Eukaryotic organisms
(animals, plants, fungi, and protists) store most of their DNA inside the cell
nucleus and some of their DNA in organelles, such as mitochondria or
chloroplasts.[1] In contrast, prokaryotes (bacteria and archaea) store their DNA
only in the cytoplasm. Within the chromosomes, chromatin proteins such as
histones compact and organize DNA. These compact structures guide the
interactions between DNA and other proteins, helping control which parts of the
DNA are transcribed.
44
Grooves
Twin helical strands form the DNA backbone. Another double helix may be
found by tracing the spaces, or grooves, between the strands. These voids are
adjacent to the base pairs and may provide a binding site. As the strands are not
directly opposite each other, the grooves are unequally sized. One groove, the
major groove, is 22 Å wide and the other, the minor groove, is 12 Å wide.[14] The
narrowness of the minor groove means that the edges of the bases are more
accessible in the major groove. As a result, proteins like transcription factors that
can bind to specific sequences in double-stranded DNA usually make contacts to
the sides of the bases exposed in the major groove.[15] This situation varies in
unusual conformations of DNA within the cell , but the major and minor grooves
are always named to reflect the differences in size that would be seen if the DNA
is twisted back into the ordinary B form.
Cell Biology and Genetics 45
Q.2 What do you understand by RNA?
Ans. Ribonucleic acid is one of the three major macromolecules (along with DNA and
proteins) essential for all known forms of life. Like DNA, RNA is made up of a
long chain of components called nucleotides. Each nucleotide consists of a
nucleobase, a ribose sugar, and a phosphate group. The sequence of nucleotides
allows RNA to encode genetic information. All cellular organisms use messenger
RNA (mRNA) to carry the genetic information that directs the synthesis of
proteins. In addition, many viruses use RNA instead of DNA as their genetic
material.
The chemical structure of RNA is very similar to that of DNA, with two
differences: (a) RNA contains the sugar ribose, while DNA contains the slightly
different sugar deoxyribose (a type of ribose that lacks one oxygen atom), and (b)
RNA has the nucleobase uracil while DNA contains thymine. Unlike DNA, most
RNA molecules are single-stranded and can adopt very complex three-
dimensional structures.
Structure
46
Each nucleotide in RNA contains a ribose sugar, with carbons numbered 1'
through 5'. A base is attached to the 1' position, in general, adenine (A), cytosine
(C), guanine (G), or uracil (U). Adenine and guanine are purines, cytosine, and
uracil are pyrimidines. A phosphate group is attached to the 3' position of one
ribose and the 5' position of the next. The phosphate groups have a negative
charge each at physiological pH, making RNA a charged molecule (polyanion).
The bases may form hydrogen bonds between cytosine and guanine, between
adenine and uracil and between guanine and uracil.[4] However, other
interactions are possible, such as a group of adenine bases binding to each other
in a bulge, or the GNRA tetraloop that has a guanine–adenine base-pair.
RNA is transcribed with only four bases (adenine, cytosine, guanine and uracil),
but these bases and attached sugars can be modified in numerous ways as the
RNAs mature. Pseudouridine (Ψ), in which the linkage between uracil and ribose
is changed from a C–N bond to a C–C bond, and ribothymidine (T) are found in
various places (the most notable ones being in the TΨC loop of tRNA).[10] Another
notable modified base is hypoxanthine, a deaminated adenine base whose
nucleoside is called inosine (I). Inosine plays a key role in the wobble hypothesis
of the genetic code.[11]
Cell Biology and Genetics 47
There are nearly 100 other naturally occurring modified nucleosides, of which
pseudouridine and nucleosides with 2'-O-methylribose are the most common.
The specific roles of many of these modifications in RNA are not fully
understood. However, it is notable that, in ribosomal RNA, many of the post-
transcriptional modifications occur in highly functional regions, such as the
peptidyl transferase center and the subunit interface, implying that they are
important for normal function.
Synthesis
RNAs are often modified by enzymes after transcription. For example, a poly(A)
tail and a 5' cap are added to eukaryotic pre-mRNA and introns are removed by
the spliceosome.
There are also a number of RNA-dependent RNA polymerases that use RNA as
their template for synthesis of a new strand of RNA. For instance, a number of
RNA viruses (such as poliovirus) use this type of enzyme to replicate their genetic
material. Also, RNA-dependent RNA polymerase is part of the RNA interference
pathway in many organisms.
Types of RNA
Messenger RNA (mRNA) is the RNA that carries information from DNA to the
ribosome, the sites of protein synthesis (translation) in the cell. The coding
48
sequence of the mRNA determines the amino acid sequence in the protein that is
produced. Many RNAs do not code for protein however (about 97% of the
transcriptional output is non-protein-coding in eukaryotes
These so-called non-coding RNAs ("ncRNA") can be encoded by their own genes
(RNA genes), but can also derive from mRNA introns. The most prominent
examples of non-coding RNAs are transfer RNA (tRNA) and ribosomal RNA
(rRNA), both of which are involved in the process of translation.[1] There are also
non-coding RNAs involved in gene regulation, RNA processing and other roles.
Certain RNAs are able to catalyse chemical reactions such as cutting and ligating
other RNA molecules, and the catalysis of peptide bond formation in the
ribosome; these are known as ribozymes.
In translation
Transfer RNA (tRNA) is a small RNA chain of about 80 nucleotides that transfers
a specific amino acid to a growing polypeptide chain at the ribosomal site of
protein synthesis during translation. It has sites for amino acid attachment and an
anticodon region for codon recognition that binds to a specific sequence on the
messenger RNA chain through hydrogen bonding.[25]
Double-stranded RNA
Transcription:
Simply stated transcription is the synthesis of RNA from a DNA template. Also
important is the concept that transcription, whether prokaryotic or eukaryotic,
has three main events.
Transcription factor - any protein other than RNA Polymerase that is required
for transcription
RNA Polymerase and the group of protein that directly interact with it are called the
basal transcription apparatus. This is the apparatus that is directly responsible for
transcription.
Other factors, those that interact directly or through a coactivator with the proteins of
the basal transcription apparatus, are also important for transcription. These generally
have a positive effect on transcription, but occasionally they can repress gene expression
through transcripion. These factors are called upstream factors.
Inducible factors - act in the same manner as an upstream factor but their
synthesis is regulated in a temporal or spatial manner
Given all of the discussion regarding the basal transcription apparatus, and
upstream and inducible factors, we can know arrive at a definition of a promoter.
The definition is reflects the interaction of the all of the important proteins and
the DNA to which the bind.
Promoter - all the DNA sequences containing binding sites for RNA polymerase
and the transcription factors necessary for normal transcription
Translation:
1. Initiation
The small subunit of the ribosome binds to a site "upstream" (on the 5' side) of
the start of the message.
It proceeds downstream (5' -> 3') until it encounters the start codon AUG. (The
region between the mRNA cap and the AUG is known as the 5'-untranslated
region [5'-UTR].)
Here it is joined by the large subunit and a special initiator tRNA.
The initiator tRNA binds to the P site (shown in pink) on the ribosome.
In eukaryotes, initiator tRNA carries methionine (Met). (Bacteria use a
modified methionine designated fMet.)
2. Elongation
Note: the initiator tRNA is the only member of the tRNA family that can bind
directly to the P site. The P site is so-named because, with the exception of
initiator tRNA, it binds only to a peptidyl-tRNA molecule; that is, a tRNA with
the growing peptide attached.
3. Termination
The end of translation occurs when the ribosome reaches one or more STOP
codons (UAA, UAG, UGA). (The nucleotides from this point to the poly(A) tail
make up the 3'-untranslated region [3'-UTR] of the mRNA.)
There are no tRNA molecules with anticodons for STOP codons. However,
protein release factors recognize these codons when they arrive at the A site.
Binding of these proteins —along with a molecule of GTP — releases the
polypeptide from the ribosome. The ribosome splits into its subunits, which
can later be reassembled for another round of protein synthesis.
56
The Wobble effect hypothesis discovered by Frances Crick, states that rules of
base pairing are relaxed at the third position, so that a base can pair with more
than one complementary base. The Wobble Effect, or sloppy pairing is where the
5' end of an anticodon can shift or "wobble" to allow pairing with more than one
nitrogen base on the codon. This happens to minimize the total number of tRNA
molecules necessary for translation. Because there are a huge number of three
base combinations, if wobble did not exist, there would have to be an equal
number of tRNA for every combination. With wobble, though, one tRNA
molecule can bindwith multiple codons, as long as the first two bases in the tRNA
are correct. Notable Wobbles 5'end of anticodon Pairs with 3' end of codon G > U
or C C > G A > U U > A or G I > U,C, or A
Cell Biology and Genetics 57
Section C
Mendelism
Figure 1: Dominant and recessive traits show a 9:3:3:1 ratio in the F2 generation. Figure 3: The color alleles of
phenotypes. In this example, coat color is indicated by B Mirabilis jalapa are not
(1) Parental generation. (2) F1 (brown, dominant) or b (white) while tail dominant or recessive.
generation. (3) F2 generation. length is indicated by S (short, dominant) or s (1) Parental generation. (2) F1
Dominant (red) and recessive (long). When parents are homozygous for generation. (3) F2 generation.
60
(white) phenotype look alike in each trait ('SSbb and ssBB), their children in The "red" and "white" allele
the F1 (first) generation and show the F1 generation are heterozygous at both together make a "pink"
a 3:1 ratio in the F2 (second) loci and only show the dominant phenotypes. phenotype, resulting in a 1:2:1
generation If the children mate with each other, in the F2 ratio of red:pink:white in the F2
generation all combination of coat color and generation.
tail length occur: 9 are brown/short (purple
(green box).
Chromosomal Mutations
Cytoplasmic Inheritance
64
Glossary
Acellular: -Without cellular organization.
Cell: - the structural and functional unit of all living organisms (plants and
animals) which is a mass of protoplasm enclosed by plasma –membrane and
contains one to many nuclei.
Cell division:-The process of division of pre-existing (parental) cell into two new
daughter cell.
Chiasma (Pl. chiasmata):-These are the point of contact and interchange between
the chromatids to two homologous chromosomes of a pair observed at diplotene
stage of the meiosis. These are points where crossing over takes place.
Meiosis:-Process of cell division where tow cell divisions occur in succession with
duplication of chromosomes only once .Thus four cells are formed ,each with half
the number of chromosomes as present in the parent cell.
Prokaryotic cell:-A type of cell in which the nuclear substances are not enclosed
within a membrane.
Purine :- Double ring, nitrogen containing base which is an important component
of DNA and RNA and certain other biologically active substances. Two purines ,
the adenine and guanine are found in both DNA and RNA.
2. All cells come From pre- existing cells was first given by:-
(1) M. J. Schleiden
(2) Theodore Schwann
(3) H.J. Dutrochet
(4) Rudolf Virchow
Ans(4)
12. A red green colour blind male would have inherited the gave for this defect
from:-
(1) His mother
(2) His father
(3) Both mother and father
(4) Either mother of father
Ans(1)
13. In a plasmolyed cell , the space between cell wall and cell membrane is filled with:-
(1) Hypertonic solution (2) Hypotonic Solution
(3) Isotonic solution (4) There is no solution in the space
Cell Biology and Genetics 69
Ans(1)
21. In Mirabilis , when two pink flowered varieties were crossed , the progeny had 20 red
flowered plants, 41 pink flowered plants and 19 white flowered plants . The inheritance
of flower colour in Mirabilis was due to :-
(1) Complementary genes (2) Incomplete dominance of a gene
(3) Duplicate genes (4) Epistatic gene
Ans(2)
Case study
1. French biologist cue not crossed wild grey coloured mice with white (albino) mice
In the first generation all were grey. From many litters he obtained in F2 198 grey
and 72 white mice.
(b)On the basis of hypothesis ,diagram the cross and compare the
observed results with those expected.
Ans : In a cross between grey and white only grey mice appear in F 1. It means grey
colour is dominant over white .In F2 generation grey and white mice appear in
the ratio of 198:72 or 2.75:1. This mean that the cross follows the monohybrid
cross of mendel and exhibits phenomenon of segregation and complete
dominance. This experiment and result of the cross can be tabulated as follows:-
Gg
Grey mice
GG Gg Gg gg
Grey Grey Grey White grey
In the above cross the grey and white are expected to appear in the ratio of
3:1;but in the experiment the ratio is found to be 2.75:1.
72
Year – 2011
Section-B
5. Explain the mechanism of protein synthesis
6 Draw beat and labeled diagrams of the process of meiosis. No description is
required
7. Write notes on the following: -
(a) Different between mitosis and meiosis
(b) Okazaki fragments.
Section-C
8. What do you understand by linkage? What id its importance? Explain different
types of linkages with suitable examples.
9. Discuss mendal`s laws with examples.
10. Write notes on the following:-
(a) Supplementary genes (b) Rh factor and its significance.
________
74
Year – 2010
Time allowed : Three Hour Maximum Marks : 33
Question No. 1 part-I is compulsory. Attempt four questions from Part-II selecting at
least one question from each section. All questions in Part-II carry equal 6 marks.
Part-I
1. Answer the following question in short (Maximum 25 words): 1x9=9
(i) Give two exceptions of cell theory.
(ii) Who has propounded the fluid mosaic model of plasma membrane?
(iii) Which stage of cell cycle is suitable for chromosome study?
(iv) Which are termination codons?
(v) What type of cell division takes place during grafting and cell culture?
(vi) Explain in brief the law of incomplete dominance.
(vii) Give two example of translocation mutation.
(viii) What is linkage?
(ix) Why in cytoplasm inheritance, are the material characters inherited in
offspring?
Part-II
Section-A
2. Differentiate between prokaryotic and eukaryotic cell.
Cell Biology and Genetics 75
3. Draw neat and labeled diagram of plasma membrance.
4. Explain biogenesis of mitochondria.
Section-B
5. Write details account on structure and function of nuclear envelope.
6. Explain the process of DNA replication in eukaryotic cell.
7. Write short notes on the following:
(a) Call cycle
(b) Genetic code
Section-C
8. Explain the brief the work of Mendel and write their significance.
9. Explain chromosomal mutation with suitable example.
10. Write short notes on following:
(i) Epitasis
(ii) ABO blood groups
76
Year – 2009
Time allowed : Three Hour Maximum Marks : 33
Question No. 1 part-I is compulsory. Attempt four questions from Part-II selecting at
least one question from each section. All questions in Part-II carry equal 6 marks.
Part-I
1. Answer the following question in short (Maximum 25 words): 1x9=9
(i) Who has propounded the fluid mosaic model of plasma membrance?
(ii) What is active transport?
(iii) Who has discovered the ribosome in animal cell?
(iv) What is Barr body? Write its location in the cell.
(v) In which animals are the polytene chromosomes found?
(vi) What is central dogmaof protein synthesis?
(vii) In which chromatids does crossing over take place ?
(viii) Give two examples of lethal genes.
(ix) Write factors responsible for imduced mutation.
Part-II
Section-A
2. Write short notes on the following:
(i) Plasma membrance
Cell Biology and Genetics 77
(ii) Passive transport
3. Describe chemiosmotic hypothesis of Mitchell.
4. Describe in brief:
(i) Rough endoplasmic reticulum
(ii) Lysosomes
Section-B
5. Draw neat, labeled diagram of D.N.A.
6. Explain the experiment of Mselson and Stahl.
7. Describe the process of protein synthesis in eukaryotic cell.
Section-C
8. How many contrasting characters were taken by Mendel for his experiment to
give law of independent assortment? Give genotypic ratio of F2 generation.
9. Describe in brief:
(i) Chromosome mapping
(ii) Linkage in Drosophila
11. Describe multiple allele inheritance with suitable examples.
_________
78
Year – 2008
Time allowed : Three Hour Maximum Marks : 33
Question No. 1 part-I is compulsory. Attempt four questions from Part-II selecting at
least one question from each section. All questions in Part-II carry equal 6 marks.
Part-I
1. Answer the following question in short (Maximum 25 words): 1x9=9
(i) Give three characteristics of mitochondrial DNA.
(ii) What is unit membrane concept?
(iii) Differentiate active and passive transports.
(iv) Give three features of Prokaryotes.
(v) What is erythroblastosis feetalis?
(vi) Give three characteristics of genetic code.
(vii) What are high energy compounds?
(viii) Give three features of Lampbrush chro-mosome.
(ix) What are introns and exons?
Part-II
Section-A
2. Write short notes on the following:
(i) Cell theory. (ii) Cytoskeleton
3. Describe the structure, functions and biogenesis of mitochondria.
Cell Biology and Genetics 79
4. Write short notes on the following:
(i) Golgi body (ii) Ribosome
Section-B
5. What are chromosomes? Describe the detail structure of the eukaryotic
chromosome with the help of nucleosome concept.
6. Write short notes on the following:
(i) DNA replication on the following:
(ii) Lampbrush chromosome.
7. Write short notes on the following:
(i) Call cycle (ii) Transcription
Section-C
8. Explain in brief Mendel’s laws of inheritance. What is test corss.
9. Write short notes on any two of the following:
(i) Chromosomal mutations (ii) Polyploidy
(ii) Multiple gene inheritance
**********
80
Notes
Cell Biology and Genetics 81
Notes