GENES AND NUCLEIC ACIDS

Human Karyotype
A karyotype is an individual’s complete set of chromosomes. The term also refers to a
laboratory-produced image of a person’s chromosomes isolated from an individual cell
and arranged in numerical order. A karyotype may be used to look for abnormalities in
chromosome number or structure.

NUCLEIC ACIDS
Nucleic acids are large biomolecules that play essential roles in all cells and viruses. A
major function of nucleic acids involves the storage and expression of genomic
information. Deoxyribonucleic acid, or DNA, encodes the information cells need to
make proteins.

FUNCTIONS OF NUCLEIC ACIDS

1. Constitutes the genetic material in all free-living organisms

2. Gene expression and regulation of cellular activities

3. Serve as the transmitters of genetic information

DIFFERENCES BETWEEN DNA AND RNA

FACTORS DNA RNA
1. Sugar Sugar deoxyribose Sugar ribose

2. # of Strand Consists of two strands, Has one strand RNA

arranged in a double helix. strands are shorter than
DNA strands.

3. Base pairing Adenine and Thymine pair Adenine and Uracil pair
(A-T) (A- U)

Cytosine and Guanine Cytosine and Guanine

pair (C-G) pair (C-G)

4. Location DNA is found in the RNA forms in the

nucleus, with a small nucleolus, and then
amount of DNA also present moves to specialised
in mitochondria. regions of the cytoplasm
depending on

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 the type of RNA formed.

5. Chainlike molecule DNA is a much longer RNA molecules are variable

polymer than RNA. A
chromosome, for example,
is a single, long DNA
molecule, which would be
several centimetres in
length when unravelled.
in length, but much shorter
than long DNA polymers. A
large RNA molecule might
only be a few thousand
base pairs long.

6. Main function
DNA replicates and stores
genetic information. It is
a blueprint for all genetic
information contained
within an organism.
RNA converts the genetic
information contained
within DNA to a format
used to build proteins, and
then moves it to ribosomal
protein factories.

HISTORY OF THE CHEMICAL BASIS OF HEREDITY

1. Fred Griffith
Frederick Griffith, (born October 3, 1877, Eccleston, Lancashire, England—died 1941,
London), British bacteriologist whose 1928 experiment with bacterium was the first to
reveal the “transforming principle,” which led to the discovery that DNA acts as the
carrier of genetic information.

Griffith studied medicine at the University of Liverpool and later worked at

the Pathological Laboratory of the Ministry of Health. He developed a reputation for his
thorough and methodical research. In 1928 he conducted an experiment involving two
strains of the bacterium Streptococcus pneumonia; one strain was lethal to mice
(virulent) and the other was harmless (avirulent). Griffith found that mice inoculated
with either the heat-killed virulent bacteria or the living avirulent bacteria remained free
of infection, but mice inoculated with a mixture of both became infected and died.
It seemed as if some chemical “transforming principle” had transferred from the dead
virulent cells into the avirulent cells and changed them. Furthermore,
the transformation was heritable—i.e., able to be passed on to succeeding generations
of bacteria. In 1944 American bacteriologist Oswald Avery and his coworkers found
that the transforming substance—the genetic material of the cell—was DNA.

2. Oswald Avery, Collin Macleod, and Maclyn Mccarty

Oswald Avery, Colin MacLeod, and Maclyn McCarty showed that DNA (not proteins)
can transform the properties of cells, clarifying the chemical nature of genes.
Avery, MacLeod and McCarty identified DNA as the "transforming principle" while
studying Streptococcus pneumoniae, bacteria that can cause pneumonia. The
bacteriologists were interested in the difference between two strains of Streptococci
that Frederick Griffith had identified in 1923: one, the S (smooth) strain, has a
polysaccharide coat and produces smooth, shiny colonies on a lab plate; the other,
the R (rough) strain, lacks the coat and produces colonies that look rough and irregular.
The relatively harmless R strain lacks an enzyme needed to make the capsule found in
the virulent S strain.

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3. Hershey & Chase
In 1951 and 1952, Alfred Hershey and Martha Chase conducted a series of experiments
at the Carnegie Institute of Washington in Cold Spring Harbor, New York, that
verified genes were made of deoxyribonucleic acid, or DNA. Hershey and Chase
performed their experiments, later named the Hershey-Chase experiments, on viruses
that infect bacteria, also called bacteriophages. The experiments followed decades of
scientists’ skepticism about whether genetic material was composed of protein or DNA.
The most well-known Hershey-Chase experiment, called the Waring Blender experiment,
provided concrete evidence that genes were made of DNA. The Hershey-Chase
experiments settled the long-standing debate about the composition of genes, thereby
allowing scientists to investigate the molecular mechanisms by which genes function in
organisms.

4. James Watson, Francis Crick and Maurice Wilkins

Watson and Crick who in 1953 declared to Cambridge, England, that they had "found
the secret of life." But James Watson and Francis Crick's claim was a valid one, for they
had in fact discovered the structure of DNA, the chemical that encodes instructions for
building and replicating almost all living things. The stunning find made possible the era
of "new biology" that led to the biotechnology industry and, most recently, the
deciphering of the human genetic blueprint. As early as 1943 Oswald Avery proved
what had been suspected: that DNA, a nucleic acid, carries genetic information. But
no one knew how it worked. By the early 1950s, at least two groups were hot on the
trail. Crick and Watson were in the hunt at Cambridge University. At King's College in
London, Rosalind Franklin and Maurice Wilkins were studying DNA. Wilkins and Franklin
used X-ray diffraction as their main tool -- beaming X-rays through the molecule
yielded a shadow picture of the molecule's structure, by how the X-rays bounced off its
component parts. Franklin, a shy and inward young woman, suffered from patronizing
attitudes and sexism that forced her to do much of her work alone. And her senior
partner, Wilkins, showed some of Franklin's findings to Watson in January 1953 without
her knowledge.

Referring to Franklin's X-ray image known as "Exposure 51," James Watson is reported to
have said, "The instant I saw the picture, my mouth fell open and my pulse began to
race." Shortly after, Watson and Crick made a crucial advance when they proposed
that the DNA molecule was made up of two chains of nucleotides paired in such a
way to form a double helix, like a spiral staircase. This structure, announced in their
famous paper in the April 1953 issue of Nature, explained how the DNA molecule could
replicate itself during cell division, enabling organisms to reproduce themselves with
amazing accuracy except for occasional mutations. For their work, Watson, Crick, and
Wilkins received the Nobel Prize in 1962. Despite her contribution to the discovery of
DNA's helical structure, Rosalind Franklin was not named a prize winner: She had died
of cancer four years earlier, at the age of 37.

5. Erwin Chargaff
Erwin Chargaff was an Austrian-Hungarian biochemist born in Czernowitz, Austria who
developed the Chargaff Rules. These rules helped to determine and established the
pattern of nitrogenous base pairing in DNA.At first, Chargaff noticed that DNA –
whether taken from a plant or animal – contained equal amounts of adenine and
thymine and equal amounts of cytosine and guanine.These equalities provided clues
into the chemical pairings that make up the double helix.

Chargaff developed an experiment in order to identify the different units responsible for
gene coding in DNA. Scientists of this period already contended that DNA was formed
by equal amounts of the four nitrogenous bases- adenine, cytosine, guanine, and
thymine. This was referred to as the tetranucleotide hypothesis. Scientists at this time
also believed as part of the tetranucleotide hypothesis that the proportion of bases in

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DNA was the same in all species. Chargaff wanted to determine whether the
tetranucleotide hypothesis was true by looking for the amount of each nitrogenous
base in samples of DNA taken from different species. Chargaff found that amounts of
guanine, cytosine, adenine and thymine vary by species – an indication that DNA, not
protein, might be the genetic material for life.

Why does Adenine pair with Thymine? Why does Cytosine pair with Guanine?

Size and structure of the specific nucleotides cause Adenine and Thymine to always
pair together. Hydrogen bonding that connects the bases and stabilizes the DNA
molecule. The only pairs that can create hydrogen bonds in that space are adenine
with thymine and cytosine with guanine. A and T form two hydrogen bonds while C and
G form three. Guanine and cytosine make up a nitrogenous base pair because their
available hydrogen bond donors and hydrogen bond acceptors pair with each other
in space. Guanine and cytosine are said to be complementary to each other.

INFORMATION FLOW IN BIOLOGICAL SYSTEMS (CENTRAL DOGMA)

1. Replication of DNA
DNA replication is the process by which a double-stranded DNA molecule is copied to
produce two identical DNA molecules. Replication is an essential process because,
whenever a cell divides, the two new daughter cells must contain the same genetic
information, or DNA, as the parent cell.

2. Transcription of DNA
Transcription, as related to genomics, is the process of making an RNA copy of a gene’s
DNA sequence. This copy, called messenger RNA (mRNA), carries the gene’s protein
information encoded in DNA. In humans and other complex organisms, mRNA moves
from the cell nucleus to the cell cytoplasm (watery interior), where it is used for
synthesizing the encoded protein.

3. TRANSLATION
Translation is the process that takes the information passed from DNA as messenger RNA
and turns it into a series of amino acids bound together with peptide bonds. It is
essentially a translation from one code (nucleotide sequence) to another code (amino
acid sequence).

THE GENETIC CODE

The genetic code is the set of rules used by living cells to translate information encoded
within genetic material (DNA or RNA sequences of nucleotide triplets, or codons) into
proteins.

Special transfers of biological sequential information

1. RNA replication (RNA – RNA)

It leads to RNA replication that promotes the virion assembly (a late phase of the viral
life cycle during which all the components necessary for the formation of a mature
virion collect at a particular site in the cell, and the basic structure of the virus particle
is formed).

2. Reverse transcription (RNA- DNA)

Reverse transcriptase, also called RNA-directed DNA polymerase,
an enzyme encoded from the genetic material of retroviruses that catalyzes the
transcription of retrovirus RNA (ribonucleic acid) into DNA (deoxyribonucleic acid). This
catalyzed transcription is the reverse process of normal cellular transcription of DNA
into RNA, hence the names reverse transcriptase and retrovirus. Reverse transcriptase
is

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central to the infectious nature of retroviruses, several of which cause disease in
humans, including human immunodeficiency virus (HIV), which causes acquired
immunodeficiency syndrome (AIDS), and human T-cell lymphotrophic virus I (HTLV-I),
which causes leukemia. Reverse transcriptase is also a fundamental component of a
laboratory technology known as reverse transcription-polymerase chain reaction (RT-
PCR), a powerful tool used in research and in the diagnosis of diseases such as cancer.

3. DNA translation (DNA – Protein)

DNA translation is the term used to describe the process of protein synthesis by
ribosomes in the cytoplasm or endoplasmic reticulum. The genetic information in DNA
is used as a basis to create messenger RNA (mRNA) by transcription. Single stranded
mRNA then acts as a template during translation.

Ribosomes facilitate translation in the cytoplasm, by inducing the binding of

complimentary transfer RNA (tRNA) anticodon sequences to the mRNA.
tRNAs carry particular amino acids, which are linked together by the ribosome. In this
process, the mRNA is decoded to produce a specific amino acid chain, known as a
polypeptide. Folding of the polypeptide creates an active protein, able to perform
functions within the cell.

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