UNIT 2: MOLECULAR GENETICS

INDEX

1. Nucleic acids: structure and functions

2. DNA
3. Gene expression: central dogma of Biology
4. Mutations
4.1 Types of mutations
4.2 Mutations and evolution
5. Genetic engineering

5.1 Techniques
5.2 Cloning

5.3 Genetically modified organisms (GMO)

5.4 Biothecnology
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 1. NUCLEIC ACIDS: STRUCTURE AND TYPES

SELF-LERANING(1): History of the discovery of nucleic acids.

• Provides a roughly half-face summary of Friederich Miescher´s

contributions to the study of genetics (including a short biography).

• Add to your glossary the following terms:

DNA
RNA
Nucleotide
Replication
Transcription
Translation
DNA polymerase
PCR

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STRUCTURE OF NUCLEIC ACIDS

 Nucleic acids are macromolecules formed by the union of simpler

molecules called nucleotides.

 Nucleotides in turn are formed by the union of three types of molecules:

an orthophosphoric acid (H3PO4), a monosaccharide (type of
carbohydrate) of five carbons (pentose), which can be ribose or
deoxyribose, and a compound called nitrogenous base .

Structure of a NUCLEOTID
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NUCLEOTIDS are molecules composed of three subunits:

1) A nitrogenous base. There are five different bases: adenine (A), guanine
(G), cytosine (C), thymine (T), and uracil (U)
2) A five-carbon sugar (or pentose) that can be ribose or a derivative of it called
deoxyribose.
3) A phosphate group (phosphoric acid)

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TYPES OF NUCLEIC ACIDS

There are two types of nucleic acids: DNA and RNA, both formed by the
union of many nucleotides, forming long chains of polynucleotides.

The union between nucleotides is made between the pentose of one

nucleotide and the phosphate group (phosphoric acid) of the next.

DNA stands for deoxyribonucleic

acid and RNA for ribonucleic
acid. Both differ in their location,
structure, chemical composition,
and function.

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STRUCTURE OF RNA

RNA is located in the nucleus and in the

cytoplasm of cells.

RNA nucleotides contain ribose (that's

why they are called ribonucleotides), and
the nitrogenous bases that make them up
are: A, G, C and U.

RNA generally consists of a single

nucleotide strand.

There are several types of RNA, such as

messenger RNA (mRNA) and transfer
RNA (tRNA), that are involved in the
manufacture of proteins.

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DIFERENCES BETWEEN DNA AND RNA

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 ACTIVITY 1

1. What nitrogenous bases are part of RNA molecules?

2. Analyze these two sequences of nitrogenous bases of two

polynucleotides and reason to which nucleic acid each belongs:
a) AAGTCCAGTACC
b) AUUGCGACCAG

3. Draw two DNA nucleotides and two RNA nucleotides in your notebook,
indicating the place where they establish their links.

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2. DNA

MOLECULAR STRUCTURE OF DNA

La historia de Rosalind Franklin 11

DNA nucleotides contain deoxyribose (which is why they are called
deoxyribonucleotides) and are made up of A, G, C, and T.

The structure of DNA was established by J. Watson, F. Crick and Rosalind

Franklin in 1953. These scientists proposed the DOUBLE HELIX MODEL for
this molecule.

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 THE CHARACTERISTICS OF THE DNA DOUBLE HELIX ARE:

1) DNA is made up of two chains of deoxyribonucleotides that fold to form a

structure similar to a spiral staircase.

2) The pentoses and phosphate groups form the "outer skeleton" of the
helix and the nitrogenous bases are arranged inward. In this way, they are
protected from possible alterations that could modify the genetic information
and, with it, the characteristics of the organism.

3) The chains are held together by bonds that are established between the
nitrogenous bases of one and the other.

4) Each nucleotide of one chain is linked to a nucleotide of the other, which is

its complement. A and T, and G and C are complementary. In this way, the
nucleotide sequence of one chain determines the sequence of the other.

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 THE DOBLE HELIX OF DNA

1) DNA is made up of
two chains of
deoxyribonucleotides

2) Pentose and
phosphate gruops form
“the outer skeleton”.

3) The chains are held

together by links
between the bases of
one and another.

4) Each nucleotide of a
chain is linked to a
complementary
nucleotide (A-T / C-G)

Structure of DNA
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 FUNCTIONS OF NUCLEIC ACIDS
Regulate cell activity
Much of the cellular activity is carried out through the intervention of proteins.
DNA regulates this activity to the extent that it stores the "code" that determines
what an organism's proteins are like; and the different types of RNA intervene in
this regulation by participating in the process of protein synthesis (that is, in the
manufacture of these).

Transmission on genetic information

For the genetic information of a species to be preserved
generation after generation, it is necessary to replicate
the DNA (that is, make copies of it) and transmit one of
these copies to each of the daughter cells during cell
division.

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 DNA ORGANIZATION IN CELLS

When the cell is not dividing (interphase), DNA (genetic material) is

dispersed throughout the nucleus and associated with some proteins. This
association of DNA together with proteins is called chromatin.

Before the cell divides, chromatin duplicates itself, that is, it makes a copy
of itself. To make the distribution of chromatin between cells easier, the cell
packages it into structures called chromosomes.

Chromosomes are structures formed

by condensation of chromatin that
appear only when the cell is about to
divide.

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The cells of the organisms of each species have a certain number of
chromosomes. This characteristic set of chromosomes is called a
KARYOTYPE.

Based on this, there may be:

 Diploid organisms; that is, they have two sets of n types of chromosomes
or 2n chromosomes (homologous chromosomes)
 Haploid organisms; that is, a cell has a single set of chromosomes or n
chromosomes.

Most organisms are diploid. Many

protozoa, algae, or fungi are
haploid

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ACTIVITY 2

1. The following images correspond to two different moments in the life of a

cell. Make a description of what the differences you see are due to.

2. State the difference between a haploid cell and a diploid cell.

3. Do the cells of our body all have the same number of chromosomes?

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 DNA REPLICATION

DNA contains all the information necessary to carry out cellular functions. For
this reason, when a cell divides, it is essential that this information is correctly
transmitted to the cells that originate from it.

In order for each of these cells to receive a

complete copy of the DNA, before cell
division occurs, the DNA replicates, that
is, it makes a copy of itself.

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 DNA replication or duplication is the process by which an identical
copy is made of each of the strands that make up DNA.

DNA polymerase is the

main enzyme involved
in this process.

DNA replication
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In eukaryotic cells, replication is a process
that is located in the cell nucleus and can be
summarized in the following steps:

The DNA molecule to be duplicated

unwinds, so that the two strands separate
(1).

Each strand of DNA serves as a template

to make a new complementary strand of
DNA. Thus, each nucleotide of the original
chain is paired with its complementary
nucleotide. For example, if adenine (A) is
present in the template chain, thymine (T) is
incorporated into the new strand; if cytosine
(C) is present, guanine (G) is incorporated,
and so on. (2)

At the end of the process, two identical

molecules are obtained, each of which is
made up of a new chain and an old chain.
For this reason, this process is said to be a
semi-conservative replication. (3) 22
 3. GENE EXPRESSION: CENTRAL DOGMA OF MOLECULAR BIOLOGY

The functions of nucleic acids consist of transmitting genetic information

(through replication) and regulating the activity of the cell (in short, regulating the
production of proteins, fundamental components of all organisms), through the
processes of transcription and translation.

* Polypeptide: chain of amino acids, fundamental components of

proteins. A polypeptide is a protein. 23
TRANSCRIPTION

The process by which a part of the genetic message is copied from its
original form, DNA, to mRNA, is called transcription.

The process of transcription begins when an enzyme called RNA

polymerase (RNA pol) attaches to the template DNA strand (3´-5´) and
begins to catalyze production of complementary RNA

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TRANSLATION

Translation is the process of protein synthesis from the information

contained in the mRNA formed in transcription.

Proteins are form by aminoacids. There are 20 amino acids that are part
of proteins. For this reason, three nucleotides (triplets or codons) are
necessary to code for an amino acid.

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GENETIC CODE

The genetic code is called the relationship between the sequence of

nitrogenous bases of the mRNA and that of the amino acids that
constitute a protein.

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ACTIVITY 3

 Why is each amino acid encoded by three nitrogenous bases?

Reason for the answer knowing four types of complementary bases
and twenty amino acids

 Find information about the biography of the Spanish biochemist

Severo Ochoa and about his main research, which led to the award of
the Nobel Prize, and write a summary (half face)

SELF-LEARNING II

Mutations: types of mutations and their relationship with

evolution.

Read and study point 4 of the book about mutations. Attend the
explanation video posted in the virtual classroom and write down any
doubts that may arise to ask them the next day in class.
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4. MUTATIONS

Alterations in genetic material are called

mutations. Only those that modify some
characteristic are predictable

4.1 TYPES OF MUTATIONS

Mutations can be classified according to the effect

produced on the individual, on the type of cell they
affect or according to the size of the mutation.
 According the effect on the individual

o Harmful: They affect basic structures of the individual and can cause
death.
o Beneficious: They represent a bene fi t for the survival of the individual.
They bring variability to the population.

o Neutral: They are mutations that neither positively nor negatively affect
the survival of the individual 31
 According the type if cells affected

o Germinals. They are those that affect the germ cells that originate the sex
cells. These mutations are passed on to the offspring.

o Somatic. They are the mutations that affect somatic cells; When these
cells multiply, all descendant cells carry the mutation. These mutations are
not passed on to the offspring.

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 According the size of the mutation

o Gene mutations. They are the most representative. They cause changes in
the nucleotide sequence of a given gene.

o Chromosomal mutations. They are those that are produced by changes in the
structure of the chromosome due to breaks, exchanges of fragments between
two chromosomes, etc.

o Genomic mutations. They are those that originate during meiosis and have as
a consequence an alteration in the chromosomal endowment. They can be of
several types:

 Aneuploidies, in which there may be an extra chromosome (trisomy) or less

(monosomy).

 Euploidies, in which a different number of haploid series appears than

normal. In diploid species there are two types of euploidies: polyploidies, in
which series 3n or 4n appear instead of 2n; and monoploidies, in which there
is only one chromosome set (n).
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4.2 MUTATIONS AND EVOLUTION

Mutations, along with sexual reproduction (genetic recombination produced

in meiosis) are a source of genetic variability.

This genetic variability, together with the natural selection of organisms, are
the main engines of evolution

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5. GENETIC ENGINEERING

Genetic engineering is called the set of techniques used to manipulate

genetic material and transfer it to another organism to change some of
its characteristics.

5.1 TECHNIQUES

The techniques used in genetic engineering are very diverse and depend
on the intended objectives.

The most used are the recombinant DNA technique and PCR.

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RECOMBINANT DNA TECHNOLOGY consists of isolating a gene from one
organism and inserting it into a different one (the receptor or host).

The purpose of this technology is to provide an organism with a new

"characteristic" that it did not previously have, such as, for example,
producing a certain protein or eliminating a toxic compound that, before
manipulation, was fatal to it.

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To carry out recombinant DNA technology, you need:

❚ Restriction enzymes, which are a kind of "genetic scissors" used to cut

DNA segments. Each type cuts it by a characteristic DNA sequence.

❚ DNA ligases, which are enzymes that join DNA segments.

❚ Transfer vectors, generally plasmids (small circular DNA molecules

present in many bacteria) and viruses, which act as "vehicles" to transport
the DNA to be transferred to the recipient organism.

❚ The receptor or host cells, which will receive the gene from another
organism. Individuals who have received the "new gene" are called
transgenic organisms.

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How do you know which bacteria have successfully incorporated the gene?

https://www.youtube.com/watch?v=rB6B0qIrozE

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PCR (Polymerase Chain Reaction) is a technique that makes it possible to
obtain, in a few hours, millions of copies of a DNA segment.

This technique consists in subjecting the DNA fragment to be copied

(amplified) to successive heating and cooling cycles in the presence of the
DNA polymerase enzyme and nucleotides. The cycles are repeated
successively until multiple copies of the DNA are obtained.

The applications of PCR are very

varied, since, from a minimal
amount of DNA, such as that
contained in the root of a hair, or
in a sample of saliva or urine, a
huge amount of DNA can be
obtained with the one to work

Termal cycler
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5.2 CLONINIG

The term cloning can refer to an organism, a cell or a molecule and refers
to the obtaining of one or more copies identical to the original.

Two types of cloning are distinguished:

REPRODUCTIVE CLONING THERAPEUTIC CLONING

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TYPES OF CLONING
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REPRODUCTIVE CLONING

This type of cloning aims to get new

individuals identical to each other
and to the original.

The first case of a cloned mammal was

Dolly the sheep, in 1997, by means of
the nuclear transfer technique, based on
the use of embryonic cell nuclei.

The main applications of this technique

are based on obtaining animals with
high performance in the production of
meat or milk; of laboratory animals that
can serve as models to investigate
some diseases; or animals in danger of
extinction.

Clonación reproductiva con fines médicos

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 THERAPEUTIC CLONING

This type of cloning aims to treat diseases and regenerate tissues.

To carry out this cloning, so-called

stem cells are required, which
are generally obtained from
somatic cells of adult tissues or
early embryos. Stem cells have
the ability to divide indefinitely
and give rise to different cell
types, such as a nerve cell or a
blood cell, for example.

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Dolly

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 5.3 GENETICALLY MODIFIED ORGANISMS (GMO)

They are organisms to which characteristics of other living beings

have been incorporated (by introducing DNA into them) to
reproduce them.

There are some transgenic foods marketed all over the world. In the
European market, among others, it is possible to find products from
transgenic soybean, corn and rapeseed crops; and food additives from
GMOs, such as riboflavin.

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Example of transgenic animals
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At present, there is great controversy regarding the benefits and harms
that the generation of transgenic foods can bring. The defenders of its
consumption think that they could serve to eradicate hunger in the world;
and its detractors wonder what its effect will be on ecosystems or people's
health. Among them, the possible loss of biodiversity, the development of
allergies or the generation of antibiotic resistance stands out.

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5.4 BIOTHECNOLOGY

Biotechnology is the discipline that uses technology in biological

processes, that is, living beings are used to obtain various products.

There is traditional biotechnology (bread production, certain alcoholic

beverages, antibiotic production, etc.), and modern biotechnology
based on the achievements of genetic engineering, such as gene
therapy.

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