TCE-Anglais Module, is the scientific english taught for

SNV L2, composed of several chapters from different disciplines

World Biology
Microbiology
Genetics
Biochemistry
Immunology
and
Ecology
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 Chapter 3. Genetics

Outline

Introduction

2. Principles of genetics
2.1. DNA Structure
2.2. DNA Replication (duplication)
2.3. Genetic code
2.4. Protein Synthesis
2.4.1. Transcription
2.4.2. Translation
2.5. Gene regulation
2.6. Mutations

References

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Introduction

Genetics is the scientific study of inherited variation; it explains how living things receive
common traits from previous generations. These traits are described by the genetic
information carried by a molecule called DNA. The instructions for constructing and
operating an organism are contained in the organism's DNA which is present on every living
thing on earth. A gene is a hereditary unit consisting of DNA that occupies a spot on a
chromosome and determines a characteristic in an organism.

They are passed on from parent to child and are believed by many to be an important part of
what decides looks and behavior. Darwin‟s theory of natural selection laid the groundwork for
evolutionary theory. However, it was the emergence of the field of genetics, pioneered by
Gregor Mendel (1822-1884), who provided the missing information on how evolution works
in practice. Mendel’s experiments with peas led him to realize that heredity in sexual
reproduction works by the mixing of separate factors, not by the blending of inherited
characters. The combination of Darwin's theory and our current understanding of heredity led
to the birth of the scientific area called "population genetics."

Figure 1. Genetic material: Chromosome, DNA and genes

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2. Principles of genetics

 Each cell‟s function within an organism is determined by the genetic information

encoded in DNA
 In eukaryotes, DNA resides within membrane-bound structures in the cell
(nucleus, mitochondria, and chloroplasts in plants).
 In prokaryotes, DNA floats freely within the cell body.
 DNA is packaged into structures called chromosomes within a cell.

2.1. DNA Structure

 The structure of DNA encodes all the information every cell needs.
 DNA molecules form chains of building blocks called nucleotides.
 Each nucleotide consists of a sugar molecule called deoxyribose that bonds to a
phosphate molecule and to a base.
 DNA uses four bases in its structure: Adenine (A), Cytosine (C), Guanine (G), and
Thymine (T).
 The pairing of bases in the DNA double helix is highly specific (A always joins with
T, and G always links to C). These base combinations, known as complementary base
pairing.

Figure 2. Structure of DNA molecule

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2.2. DNA Replication (duplication)

 During replication of DNA, the DNA double helix unwinds and bonds joining the base
pairs break, separating the DNA molecule into two separate strands.

 DNA polymerase binds to the leading strand and then „walks‟ along it, adding
new complementary nucleotide bases (A, C, G and T) to the strand of DNA in the 5‟
to 3‟ direction.
 The unpaired bases of each DNA strand attach to bases floating within the cell.
 The complementary bases then link to each other, forming a new DNA double-helix
molecule. Thus the original DNA molecule replicates into two DNA molecules that
are exact duplicates.

Figure 3. DNA duplication

2.3. Genetic code

 Within each string of DNA are sets of instructions called genes.

 The biochemical instructions found within most genes, known as the genetic code,
specify the chemical structure of a particular protein.
 Genes line up in a row along the length of a DNA molecule to determine the
arrangement of amino acids in a protein.
 Genes make up less than 2% of the length of a DNA molecule. The rest of the DNA
molecule is made up of long, highly repetitive nucleotide sequences "junk” DNA".

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  A gene consists of a promoter (regulate the initiation of transcription), the codons for
a protein (protein-encoding sequence) and a stop codon (terminate the transcription).

Figure 4. Gene structure

2.4. Protein synthesis

Proteins are composed of long chains of amino acids.

The process in which information from a gene is used to construct proteins, known as protein
synthesis, has two steps: transcription and translation.

2.4.1. Transcription

Transcription takes place in the cell nuleus, it transfers the genetic code from a molecule of
DNA to an intermediary molecule called ribonucleic acid (RNA).

 The two compounds have three critical differences

1. The structure of RNA incorporates the sugar ribose rather than deoxyribose in DNA.
2. RNA uses the base Uracil (U) instead of Thymine (T).
3. RNA usually exists as a single strand, unlike the double-helix structure that normally
characterizes DNA.

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 Figure 5. Linking nucleotides to form RNA (left) and DNA (right)

• Transcription involves the production of a messenger RNA (mRNA).

 The process begins when the two strands of a DNA molecule separate, a task directed
by the enzyme RNA polymerase.
 After the double helix splits apart, one of the strands serves as a template, for the
formation of a complementary mRNA molecule.
 Free-floating individual bases within the cell bind to the bases on the DNA template to
form a strand of mRNA.

In eukaryotes, the mRNA strand consists of coding regions called exons (link together to form
an mRNA strand) separated by regions called introns (do not contribute to protein synthesis).

2.4.2. Translation

 Translation takes place in ribosomes.

 In eukaryotes, mRNA travels out of the nucleus into the cytoplasm to attach to a
ribosome.

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 Another form of RNA called transfer RNA (tRNA) is found in the cytoplasm of the
cell. There are many different types of tRNA, and each type binds with one of the 20
amino acids used in protein formation.
 One end of a tRNA binds with a specific amino acid. The other end carries three
bases, known as an anticodon.
 The anticodon of the tRNA undergoes complementary base pairing with a series of
three bases on the mRNA, known as the codon.
 The mRNA codon codes for the type of amino acid carried by the tRNA.
 This process continues repeatedly until the formation of a polypeptide chain (a chain
of amino acids).
 The process ends when the entire sequence of mRNA has been translated.
 The polypeptide chain falls away from the ribosome as a newly formed protein, ready
to go to work in the cell.

Figure 6. Eukaryotic protein synthesis

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2. 5. Gene regulation

 Each cell produces different proteins according to its needs so that it does not waste
energy by producing proteins that will not be used.
 A variety of mechanisms regulate gene activity in cells. One method involves turning
on or off gene transcription, sometimes by blocking the action of RNA polymerase.
 Gene regulation may also involve mechanisms that slow or speed the rate of
transcription, using specialized regulatory proteins that bind to DNA.
 A region of DNA known as an operon controls this gene regulation process.

2.6. Mutations

 Any alteration in the structure of a gene results in a mutation.

 Mutations can occur spontaneously, or can be caused by exposure to physical,
chemical and biological agents in the environment called mutagens.

 Most mutations harm an organism and the implications can be significant. For
example, the amino acid sequence distinguishing normal hemoglobin from the altered
form of hemoglobin responsible for sickle-cell anemia differs by only a single amino
acid.
 Substitution (point mutation), a single nucleotide replaces another nucleotide.
 Deletion or Insertion even a single base from a normal sequence during transcription

can disrupt translation by shifting the “reading frame” of every subsequent codon.
For example, in frameshift mutation a mRNA strand may include two codons in the
following sequence: AUG UGA. The addition of a Cytosine base at the beginning of
this sequence shifts the “spelling” of these codons so that they read: CAU GUG. This
may result in an incorrect amino acid sequence during translation, or the protein may
be truncated. This type of alteration could result in the production of a protein with no
real function or one with a harmful effect.

 Transposition mutation, parts of DNA (containing one or more genes) move from one
chromosome to another (jumping genes or transposons) which change the type of
amino acids in protein.

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 Chromosome mutations or „block‟ mutations occur as a result of errors in crossing
over during meiosis. Chromosome mutations affect large segments of DNA
containing many genes. There are four different types of chromosomal mutations:
Deletions, Translocations, Duplications and Inversion

Figure 7. Different types of mutations

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References

Godwill EA (2015) Changing Paradigms in Cell Biology: Their Implication and Possible
Applications. Biochem Physiol 4:184. doi: 10.4172/2168-9652.1000184

Kapiel T (2006) Lecture notes: Principles of Genetics.1st edition MSA.

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