3.

Genetics

Mendelian genetics
In the 19th century, Mendel while researching the hereditary line of
peas in the garden of the monstery where he was a monk,
discovered that the pea has some unknown ‘particles’ of heredity
each of which carries a unique trait from generation to generation
without mixing one with the other. The 2nd generation pea receives
one such particle for a trait from father pea, and one from the
mother pea. One of the two options for the trait being dominant, the
particle for that becomes effective in case mixed particles are
received from the father and the mother. He came to this conclusion
by observing the proportion of the second generation peas that
express those traits. In the case of the diagram below green being
the dominant trait only of the pea pods are yellow, when both of
the gene particles are that of yellow (gg).

First generation
Green

particle for green

(dominant) particle for yellow

green green
First generation
Green

green yellow

Determination of the colour of pea

pods by combination of gene
particles from father and mother

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Though later it was found that such totally independent carriers of
heredity is seen only in the simple cases, but the idea of one ‘gene’
carrying one trait became prevalent among the scientists. It was
also demonstrated through such experiments with multiple traits
that in general every gene (therefore every trait) keeps its separate
identity intact through generations and do not mix with other genes.

DNA as the carrier of heredity

At that time there was no idea about what that gene is. Gradually
scientists noticed that these have to exist in the thread-like
chromosomes found in the nucleus of the living cell which divide
when one cell divides into two. And chromosomes in the egg cell of
mother and sperm cell of father come together in the zygote the
first cell of the offspring. It was also noticed that the number of
chromosomes are halved in the formation of the egg or sperm cells
to be restored to the full number in the offspring. Still without
knowing what constitutes the genes scientists discovered that
certain genes always go together with certain other genes, and also
that genes can be changed by the influence of external factors, such
as exposure to radiation. They called it mutation. Many such
discoveries came from the study of generation of fruitfly Drosophila.
They found it convenient for genetic research, as Mendel had found
pea to be the convenient organism.
The biochemists had already discovered that there are two types of
molecules in the nucleus of the cell – protein and nucleic acid. The
latter has two different categories – very similar with some
differences – Dioxyribo Nucleic Acid (DNA), and Ribo Nucleic Acid
(RNA). Any of these could be the carrier of heredity forming the
genes. In 1944 a critical experiment ruled out protein and found out
that it is the DNA which is responsible for heredity. This and other
experiments established firmly that it is DNA which carries heredity–
the carrier ‘particle’ of Mendel, the ‘gene’ of later scientists.

The structure of DNA

Much changed in biological science with the great discovery of the
structure of DNA mainly by James Watson and Francis Crick in 1953.
The structure was found to be rather simple but very revealing,
indicating how it carries the code of so many traits of a living
organism to be implemented into life and to be carried to the next
generation.
DNA Molecule consists of two strands of component molecules
attached loosely to each other in a helical embrace. The backbone
of each strand is a repeated sequence of sugar ribose and a
phosphate. Attached to each phosphate is a molecule called base 2
The whole DNA molecule can be imagined to be a twisted ladder where
the two side bars are the sugar-phosphate backbone and the steps are
the base pairs from each of these – any of the possible pairs AT or TA
or CG or GC. Thus each strand forms an exact complementary strand of
the other strand, and any of these can carry the code according to the
particular sequence of A,C,G, T continuously one after another.

base pair
A T

G C

Sugar phosphate
backbone

structure of DNA
Code of life
How DNA codes the instructions for making protein (enzymes which
catalyze various functions of life) and how proteins are actually
synthesized in the cell following the codes, have been subsequently
discovered. It was found that each amino acid, the constituent
molecules of a protein, is coded by a specific sequence of three bases,
called a codon. Thus all the 20 amino acids needed to synthesize all
protein are coded by only 64 codon, some of these being reserved for
‘stop’ code. This ‘dictionary’ of DNA base sequence codons to various
amino acids is same for all living organism including bacteria – showing
dramatically the unity and comon origin of all living beings. DNA in the
nucleus actually transfers the code to another nucleic acid RNA which
is very similar to DNA. For this the two strands of DNA open locally and
form a complementary strand of RNA which thus bears the code and
comes out of the nucleus and to rhibozomes in the cytoplasm. This is
called messenger RNA (mRNA).
amino acid
chain amino
acid

anticodon
codon

rhibosome

Making of protein in a cell in accordance with codons 3

In its turn it forms its own complementary transfer RNA (tRNA), where
each codon is attached with its appropriate amino acid– thus
synthesizing the protein (enzyme) according to the original code. Also in
a similar process DNA can create its replica while a cell is divided. Thus
the same codes go to every cell of the body. However all the codes are
not expressed or implemented in evey cell. This is controlled by other
DNA codes which allow certain codes to be expressed in certain cells and
not others.

Mutations
In all these processes of replications, and transcription of codes for
protein making, mistakes do occur and as a result codes change, wrong
protein may be synthesized, or are not synthesized at all. Most of the
mistakes are self-corrected. But rare mutation of genes do occur through
such mistakes. Sometimes external agents such as radiation may cause
such mutations. If a mutation takes place in the cells creating egg cells
or sperm cells these changes in codes may get inherited through
successive generations. Thus we receive many of the inherited diseases
through such changed genes, as we get many other exceptional traits.

Mutation created by the change of only one base-pair called SNP

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Q. What are the functions of DNA?
A. DNA codes for producing protein (enzyme), and RNA. It is these
proteins which gives the structure to body, and at the same time
as enzyme it makes possible various body functions and traits. It is
also through coding for special proteins that DNA controls other
DNA determining whether certain genes will be expressed or not in
certain circumstances. It is also through DNA coding that an
organism develops from a single cell created by parents’ germ
cells through embryonic development into parts for various
functions.

Q. How are the codes of DNA implemented?

A. Basically through the synthesis of enzymes according to the
code. The process itself, on its part, needs specific enzymes, which
are also coded by DNA. So the implementation process can not
start without having some pre-existing enzymes already in the
seeds from the parents.
Q. Now that human genome mapping has been completed, how
many genes are there in human genome? How many base-pairs
are there in the human genome?
A. The human genome has shown 20,000 – 25,000 distinct protein-
coding genes. The estimated number of base pairs in human
genome is about 3.2 billion.

Q. Is DNA in a dead organism still has the code in it?

A. If the DNA is not too much damaged, the code is still available
long after the organism died. That is why DNA from dead bodies,
even after many years from its bones can be used for
identification etc. DNA codes have been revealed from human and
other remains thousands of years old providing a very strong
means for research of pre-historic life. some people are even
thinking of reviving of extinct animals using their DNA available in
the museum remains.

Q. How will an individual’s genome profile help in future?

A. It can let us know the probabilities for various hereditary
diseases. It can decide about the treatment of many diseases on
an individual level, personalizing the medicine targeting
individuals.

Q. How much of us is the product of our DNA, and how much other
things?
A. Anything hereditary is the product of DNA. These have been
selected over our long evolution, or the result of some recent 5