genetics-final-topics-1
genetics-final-topics-1
The genetic material controls the organism’s composition and it is identical in the somatic cells of a
multicellular organism. The genetic material has the ability to replicate with the cell so new cells contain
the same genetic material as the parent cell.
There are genetic materials found in the form of plasmids. The plasmids are genetic material found
outside the chromosomes of certain bacteria. They are discrete, circular, supercoiled, and much smaller
than chromosomal genetic information. Plasmids usually contain information encoding for non-essential
traits such as antibiotic resistance and toxins production. Plasmids can replicate independently from the
cell. Conjugative plasmids can be transferred among bacteria leading to the appearance of new features
in the recipient bacterial cell.
How to define genetic material? A genetic material would contain a gene, a part or group of genes, or
even the entire genome. What are the three types of genetic material? DNA, RNA, and genes are the
three types of genetic material.
During reproduction, the genetic information is passed from one generation to another. It may be
through sexual or asexual means. In asexual reproduction, the “clone” receives genetic information that
is identical to its parent. Conversely, in sexual reproduction, the “offspring” receives genetic material
from its father and its mother. Hence, the genetic material of the offspring is not an identical copy of its
parents.
Biology Definition: Genetic material is a cellular material that plays a fundamental role in determining
the structure and nature of cell substances, and is capable of self-propagating and variation. The genetic
material of a cell can be a gene, a part of a gene, a group of genes, a DNA (or RNA) molecule, a fragment
of DNA (or a fragment of RNA), a group of DNA molecules (or a group of RNA molecules), or the
entire genome of an organism. It can be found in the nucleus, mitochondria, and cytoplasm, depending
on the type of organism, i.e. if it is a prokaryote or eukaryote.
Scientists studied the structure and function of the genetic material and found that the genetic material
is located in the chromosomes. Because chromosomes contain proteins and DNA so it was not clear
early on whether the proteins or the DNA carried the genetic information. Hershey and Chase’s
experiments proved that DNA, not proteins, was the genetic material since proteins lack the most
important character of the genetic material, which is replication.
In a human cell, the genetic material is present in the form of double-stranded DNA molecules, forming
the shape of a double helix. It is made up of a sequence of nucleotides forming two DNA strands.
During replication of the cell, the two strands separate, and eventually, two new DNA molecules are
formed. The newly replicated DNA molecule is identical to the original DNA molecule.
Figure 1: DNA replication. Notice how the DNA is replicated to make an identical copy of DNA.
guanine (G)
cytosine (C)
adenine (A)
where C is paired with G and A is paired with T on the opposite strand forming a base.
The base is attached to a phosphate molecule and a ribose sugar forming a nucleotide.
DNA in humans is found in the form of chromosome linear strands in the nucleus. In contrast, it is
present in the form of a single genophore in bacteria. Structural proteins are associated with the
chromosomal DNA forming chromatins that compact, organize, and control the accessibility to DNA
strands.
Chromatins in eukaryotes are usually composed of nucleosomes with DNA segments wound around
histone proteins. Genome is the complete set of genetic material in an organism.
RNA is the genetic material of some viruses. It is composed of a single strand containing a phosphate
group, sugar, and nucleotides. Moreover, the bases in the RNA strand are as follows:
guanine (G)
cytosine (C)
adenine (A)
uracil (U)
where thymine in DNA is replaced by uracil in RNA. base pairs of RNA are similar to that of DNA except
that adenine is paired with uracil.
The 3D structure of a DNA molecule is a double helix, which is a twisted ladder shape. The double helix
is made up of two strands that wind around each other, with the sugar-phosphate backbones on the
outside and the nitrogenous bases on the inside. The bases pair up with each other through hydrogen
bonds.
Bases: DNA contains adenine (A), thymine (T), guanine (G), and cytosine (C), while RNA contains
adenine (A), uracil (U), guanine (G), and cytosine (C).
Function: DNA stores genetic information, while RNA is involved in protein synthesis and gene
regulation.
Nucleotides: Both DNA and RNA are made up of nucleotides, which are subunits that contain a
phosphate, a 5-carbon sugar molecule, and a nitrogenous base.
Base pairing: In DNA, adenine always pairs with thymine, and guanine always pairs with
cytosine. In RNA, uracil pairs with adenine.
DNA (deoxyribonucleic acid) is the genomic material in cells that contains the genetic information used
in the development and functioning of all known living organisms. DNA, along with RNA and proteins, is
one of the three major macromolecules that are essential for life. Most of the DNA is located in the
nucleus, although a small amount can be found in mitochondria (mitochondrial DNA). Within the
nucleus of eukaryotic cells, DNA is organized into structures called chromosomes. The complete set of
chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs
of DNA arranged into 46 chromosomes. The information carried by DNA is held in the sequence of
pieces of DNA called genes.
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 (bases). It is the sequence of these four bases along the backbone that encodes
information. The sequence of these bases comprises the genetic code, which subsequently specifies the
sequence of the amino acids within proteins. The ends of DNA strands are called the 5 ′(five prime) and
3′ (three prime) ends. The 5′ end has a terminal phosphate group and the 3′ end a terminal hydroxyl
group. One of the major structural differences between DNA and RNA is the sugar, with the 2-
deoxyribose in DNA being replaced by ribose in RNA.
The structure of DNA
Bases are classified into two types: the purines, A and G, and the pyrimidines, the six-membered rings C,
T and U. Uracil (U), takes the place of thymine in RNA and differs from thymine by lacking a methyl
group on its ring. Uracil is not usually found in DNA, occurring only as a breakdown product of cytosine.
In the DNA double helix, each type of base on one strand normally interacts with just one type of base
on the other strand. This is complementary base pairing. Therefore, purines form hydrogen bonds to
pyrimidines, with A bonding only to T, and C bonding only to G.
RNA
RNA, is another macromolecule essential for all known forms of life. Like DNA, RNA is made up of
nucleotides. Once thought to play ancillary roles, RNAs are now understood to be among a cell’s key
regulatory players where they catalyze biological reactions, control and modulate gene expression,
sensing and communicating responses to cellular signals, etc.
The chemical structure of RNA is very similar to that of DNA: each nucleotide consists of a nucleobase a
ribose sugar, and a phosphate group. There are two differences that distinguish DNA from RNA: (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.
DNA and RNA similarities and differences
Key Concepts:
Deoxyribonucleic acid, commonly known as DNA, is a nucleic acid that has three
main components: a deoxyribose sugar, a phosphate, and a nitrogenous base.
DNA contains the genetic material for an organism, and it must be copied when a
cell divides into daughter cells. The process that copies DNA is called replication.
Replication involves the production of identical helices of DNA from one double-
stranded molecule of DNA.
Enzymes are vital to DNA replication since they catalyze very important steps in
the process.
The overall DNA replication process is extremely important for both cell growth
and reproduction in organisms. It is also vital in the cell repair process.
DNA replication is the process by which DNA makes a copy of itself, and it occurs in three main steps:
Unzipping: The double helix is opened and the DNA strands are separated at a
specific location called the origin.
Priming: The template strand is prepared for duplication by enzymes and proteins.
Assembly: DNA polymerase organizes the assembly of the new DNA strands.
DNA replication is the process in which a cell makes an identical copy of its DNA. It
is vital for cell growth, repair, and reproduction in organisms as it helps with the
transmission of genetic information. The replication process follows several steps
involving multiple proteins called replication enzymes and RNA, or ribonucleic acid.
In eukaryotic cells, such as animal cells and plant cells, DNA replication occurs in
the S phase of the cell cycle. Before this phase, also known as the synthesis stage,
the cell passes through a preparation phase to minimize the chances of errors or
mutations being introduced into the new DNA strands.
What Is DNA and Why Does It Replicate?
DNA is the genetic material that defines every cell. Before a cell duplicates and is divided into
new daughter cells through either mitosis or meiosis, biomolecules and organelles must be
copied to be distributed among the cells. DNA, found within the nucleus, must be replicated to
ensure each new cell receives the correct number of chromosomes.
Replication Preparation and Beginning
Step 1: Replication Fork Formation
Before DNA can be replicated, the double-stranded molecule must be “unzipped” into two
single strands. DNA has four bases called adenine (A), thymine (T), cytosine (C), and guanine (G)
that form pairs between the two strands. Adenine only pairs with thymine and cytosine only
binds with guanine. To unwind DNA, these interactions between base pairs must be broken.
This is performed by an enzyme known as DNA helicase. DNA helicase disrupts the hydrogen
bonding between base pairs to separate the strands into a Y shape known as the replication
fork. This area will be the template for replication to begin.
DNA is directional in both strands, signified by a 5' and 3' end. This notation signifies which side
group is attached to the DNA backbone. The 5' end has a phosphate (P) group attached, while
the 3' end has a hydroxyl (OH) group attached. This directionality is important for replication as
it only progresses in the 5' to 3' direction. However, the replication fork is bi-directional; one
strand is oriented in the 3' to 5' direction (leading strand) while the other is oriented 5' to 3'
(lagging strand). The two sides are therefore replicated with two different processes to
accommodate the directional difference.
Step 2: Primer Binding
The leading strand is the simplest to replicate. Once the DNA strands have been separated, a
short piece of RNA called a primer binds to the 3' end of the strand. The primer always binds as
the starting point for replication. Primers are generated by the enzyme DNA primase.
Step 3: Elongation
Enzymes known as DNA polymerases are responsible for creating the new strand by a process
called elongation. There are five different known types of DNA polymerases
in bacteria and human cells. In bacteria such as E. coli, polymerase III is the main replication
enzyme, while polymerase I, II, IV, and V are responsible for error checking and repair. DNA
polymerase III binds to the strand at the site of the primer and begins adding new base pairs
complementary to the strand during replication. In eukaryotic cells, polymerases alpha, delta,
and epsilon are the primary polymerases involved in DNA replication. Because replication
proceeds in the 5' to 3' direction on the leading strand, the newly formed strand is continuous.
The lagging strand begins replication by binding with multiple primers. Each primer is only
several bases apart. DNA polymerase then adds pieces of DNA, called Okazaki fragments, to the
strand between primers. This process of replication is discontinuous as the newly created
fragments are disjointed.
Step 4: Termination
Once both the continuous and discontinuous strands are formed, an enzyme called exonuclease
removes all RNA primers from the original strands. These primers are then replaced with
appropriate bases. Another exonuclease “proofreads” the newly formed DNA to check, remove,
and replace any errors. Another enzyme called DNA ligase joins Okazaki fragments together
forming a single unified strand. The ends of the linear DNA present a problem as DNA
polymerase can only add nucleotides in the 5′ to 3′ direction. The ends of the parent strands
consist of repeated DNA sequences called telomeres. Telomeres act as protective caps at the
end of chromosomes to prevent nearby chromosomes from fusing. A special type of DNA
polymerase enzyme called telomerase catalyzes the synthesis of telomere sequences at the
ends of the DNA. Once completed, the parent strand and its complementary DNA strand coils
into the familiar double helix shape. In the end, replication produces two DNA molecules, each
with one strand from the parent molecule and one new strand.
DNA replication would not occur without enzymes that catalyze various steps in the
process. Enzymes that participate in the eukaryotic DNA replication process include:
DNA helicase: Unwinds and separates double-stranded DNA as it moves along the DNA.
It forms the replication fork by breaking hydrogen bonds between nucleotide pairs in
DNA.
DNA primase: A type of RNA polymerase that generates RNA primers. Primers are short
RNA molecules that act as templates for the starting point of DNA replication.
DNA polymerases: Synthesize new DNA molecules by adding nucleotides to leading and
lagging DNA strands.
Topoisomerase or DNA Gyrase: Unwinds and rewinds DNA strands to prevent the DNA
from becoming tangled or supercoiled.
Exonucleases: Group of enzymes that remove nucleotide bases from the end of a DNA
chain.
DNA ligase: Joins DNA fragments together by forming phosphodiester bonds between
nucleotides.
SUMMARY
DNA replication is the production of identical DNA helices from a single double-stranded
DNA molecule. Each molecule consists of a strand from the original molecule and a
newly formed strand. Prior to replication, the DNA uncoils and strands separate. A
replication fork is formed which serves as a template for replication. Primers bind to the
DNA and DNA polymerases add new nucleotide sequences in the 5′ to 3′ direction.
This addition is continuous in the leading strand and fragmented in the lagging strand.
Once elongation of the DNA strands is complete, the strands are checked for errors,
repairs are made, and telomere sequences are added to the ends of the DNA.
A variety of genes are involved in the control of cell growth and division. The cell
replicates itself in an organized, step-by-step fashion known as the cell cycle. Tight
regulation of this process ensures that a dividing cell’s DNA is copied properly, any
errors in the DNA are repaired, and each daughter cell receives a full set of
chromosomes. The cell cycle has checkpoints (also called restriction points), which allow
certain genes to check for problems and halt the cycle for repairs if something goes
wrong.
If a cell has an error in its DNA that cannot be repaired, it may undergo self-destruction
(apoptosis). Apoptosis is a common process throughout life that helps the body get rid
of cells that no longer work or that it doesn’t need. Cells that undergo apoptosis break
apart and are recycled by a type of white blood cell called a macrophage. Apoptosis
protects the body by removing genetically damaged cells that could lead to cancer, and
it plays an important role in the development of the embryo and the maintenance of
adult tissues.
Disruption of normal regulation of the cell cycle can lead to diseases such as cancer.
When the cell cycle proceeds without control, cells can divide without order and
accumulate genetic errors that can lead to a cancerous tumor.
Each cell expresses, or turns on, only a fraction of its genes at any given time. The rest of the
genes are repressed, or turned off. The process of turning genes on and off is known as
gene regulation. Gene regulation is an important part of normal development. Genes are
turned on and off in different patterns during development to make a brain cell look and act
different from a liver cell or a muscle cell, for example. Gene regulation also allows cells to
react quickly to changes in their environments. Although we know that the regulation of
genes is critical for life, this complex process is not yet fully understood.
Gene regulation can occur at any point during gene expression, but most commonly occurs
at the level of transcription (when the information in a gene’s DNA is passed to mRNA).
Signals from the environment or from other cells activate proteins called transcription
factors. These proteins bind to regulatory regions of a gene and increase or decrease the
level of transcription. By controlling the level of transcription, this process can determine
when and how much protein product is made by a gene.
UNIT X
The coding dictionary refers to the table or map that translates codons—sequences of
three nucleotides in messenger RNA (mRNA)—into their corresponding amino acids
during protein synthesis. It is essentially the genetic code, organized for easy reference.
Start Codon: AUG (methionine in eukaryotes; formylmethionine in prokaryotes).
Stop Codons: UAA, UAG, UGA (do not code for any amino acid).
Transcription in Eukaryotes
Eukaryotic transcription is more complex than prokaryotic transcription due to
compartmentalization and regulatory mechanisms.
1. Key Differences from Prokaryotes:
o Occurs in the nucleus.
o Requires multiple types of RNA polymerases.
o Involves extensive RNA processing (e.g., splicing, capping, and polyadenylation).
2. Types of RNA Polymerases:
o RNA Polymerase I: Synthesizes rRNA (28S, 18S, 5.8S).
o RNA Polymerase II: Synthesizes mRNA and some small nuclear RNAs (snRNAs).
o RNA Polymerase III: Synthesizes tRNA, 5S rRNA, and other small RNAs.
3. Steps of Eukaryotic Transcription:
o Initiation:
General transcription factors (e.g., TFIIA, TFIIB, TFIID) assemble at the
promoter.
RNA Polymerase II binds to the promoter to form the pre-initiation
complex.
Promoters often contain a TATA box (recognized by TBP, a component of
TFIID).
o Elongation:
RNA Polymerase II synthesizes RNA while associated with elongation
factors.
DNA is unwound, and the RNA strand grows.
o Termination:
Termination signals differ depending on the polymerase.
RNA Polymerase II transcripts undergo cleavage, and a poly(A) tail is
added.
4. RNA Processing:
o 5' Capping: Addition of a 7-methylguanosine cap to the 5' end.
o Splicing: Removal of introns by the spliceosome.
o 3' Polyadenylation: Addition of a poly(A) tail to the 3' end.
5. Regulation of Transcription:
o Enhancers and Silencers: Regulatory DNA sequences influencing transcription
rates.
o Epigenetic Modifications: Chromatin remodeling (e.g., histone acetylation,
methylation).
Significance:
Transcription is the first step of gene expression, enabling the transfer of genetic
information from DNA to RNA.
In eukaryotes, the complexity of transcription allows precise spatial and temporal
regulation of gene expression.
UNIT XI
Translation and Proteins
Translation is the biological process in which a messenger RNA (mRNA) sequence is decoded to
synthesize a polypeptide (protein). It is a fundamental step in gene expression, occurring in the
ribosomes.
The key components of translation are:
Messenger RNA (mRNA): Carries the instructions for the protein that will be
synthesized. Each three bases in mRNA is a codon, which codes for a specific amino
acid.
Ribosomes: Cellular machinery that uses DNA's instructions to assemble amino acids
into proteins.
Transfer RNA (tRNA): Used in the translation process.
Enzymatic factors: Various enzymatic factors are required for translation.
Aminoacyl-tRNA synthetase (aaRS): Provides the aminoacyl-tRNAs used in protein
biosynthesis.
The three steps of translation are initiation, elongation, and termination:
Initiation: The ribosome lands on the start codon and sets the correct reading frame for
mRNA decoding.
Elongation: The ribosome adds amino acids one at a time to the growing peptide chain.
Termination: The ribosome reaches a stop codon and protein synthesis is terminated.
Translation and transcription are two parts of the same process. Transcription comes first, and
the mRNA strand moves outside the nucleus so that translation can begi