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STANFORD ENGLISH INSTITUTE

GENETIC MUTATIONS AND TRANSGENIC

ANIMALS

ERIK DAVID PILATAXI FERNNDEZ

TEACHER: DAVID TUGUMBANGO

MONDAY 29th FEBRUARY 2016

DEDICATORY

This thesis work is dedicated to my parents Jose and Maria because they are who
have been a support and encouragement during the challenges in my life. I am
truly thankful for having them in my life. They always love me unconditionally and
taught me to work hard the things that I aspire to achieve.

ACKNOWLEDGMENT

I would like to express my sincere gratitude to my English teachers in the Stanford

Institute for the continuous support of my studies and learning, for their patience,
motivation, and immense knowledge. Their guidance helped me in the entire road
and all the time that I studied here.

INDEX
INTRODUCTION.................................................................................................... 5
OBJECTIVES........................................................................................................ 5
MUTATIONS......................................................................................................... 5
MUTATIONS: CAUSES AND CONSEQUENCES....................................................6
TYPES OF MUTATIONS...................................................................................... 6
RESULTS.......................................................................................................... 8
OPINION ABOUT MUTATIONS............................................................................ 8
TRANSGENIC ANIMALS........................................................................................ 9
HOW TRANSGENIC ANIMALS ARE CREATED.....................................................9
RESULTS OF TRANSGENIC ANIMALS..............................................................10
OPINION ABOUT TRANSGENIC ANIMALS........................................................10

ROLE OF TRANSGENIC ANIMALS TO PEOPLE AND THE WORLD.........................10

TRANSGENIC ANIMAL FOR HUMAN CONSUME................................................10
BENEFITS FOR PEOPLE.................................................................................. 10
DISEASES THAT TRANSGENIC ANIMALS PRODUCE IN THE ENVIRONMENT.....11
PRINCIPAL EFFECTS IN HEALTH.....................................................................11
INFLUENCE OF TRANSGENIC ANIMALS IN THE WORLD......................................12
Advantages of transgenic animals...................................................................13
Disadvantages of transgenic animals...............................................................13
Development of animal models for studying human diseases............................14
The characteristics of an ideal animal model are:..............................................14
Use of genetically modified animals as organ donors for humans
xenotransplantation..................................................................................... 15
The main causes giving rise to the existence of immunological barriers in
xenotransplantation include:............................................................................15
CONCLUSION.................................................................................................... 15

INTRODUCTION
I am going to talk about transgenic animals. Transgenic animals are the topic which
is coming up these days. Transgenic animals are a high importance for everybody,
so in the future it will show us how to fight some diseases.
It is necessary to mention some objectives about this topic:

OBJECTIVES
Identify each characteristic of some important sequences of gens we base
in genetic files.

Watch some diseases models that affect the people and create new drugs

and treatments.
Transgenic animals could be serving as a source of tissues and organs for
human transplant.

MUTATIONS
One of the most important discovering made by Science about gens was each one
of the reactions that this organism suffer and these are known as mutation or also
denominated change in the nucleotides sequence of DNA. The mutation is much
higher frequency into DNA, because of some agents to correct these problems in
the DNA.
On the other hand if a DNA sequence hasnt corrected against any present change
in the same, then the copy made in the DNA will be rewrite as a normal sequence,
searching a stable mutation during some generations. Mutants alleles exist in a
high percentage that dont have high tendency to the originals alleles to make a
mutation again.
While this process exists some not correct mutations are present during the event
and

these are

known

as

silence

mutations. There

are pernicious

mutations where two types of mutations are useful to make a correct survey. One
of the most important information is the vital importance that mutation has in the
evolution, to provide

variation

among

individuals above evolution forcer

acting the most known.

Mutations are great importance for the investigation, in the past year, this type of
mutations are owned to the Scientifics Beadle and Tatum, these Scientifics
provided a high advanced, so that it also studies the heredity and molecular
environment of gens. Nowadays Scientifics are jacking a particular mutation of gen

using some DNA technologies to separate gen and determine the bases
sequences this mutation has.

MUTATIONS: CAUSES AND CONSEQUENCES

A mutation is a change in the DNA sequence of nucleotides. Mutations are an
important cause in the genetic diversity. For example the species of evolution
develop or acquire new characteristics by mutations of time gens. Mutations might
also be harmful. The mutation cause genetic illness.
TYPES OF MUTATIONS
Mutations obey to very different causes. Sometimes mutations might have places
of spontaneous events such mistakes during DNA replication, for example:
1) Heredity and acquired mutations
-it is important to notice that not all mutations have the same effect in the body
cells. The heredity mutations pass to offspring throws spermatozoon and ovules.
As a result, the mutation is present in the genome of all heredity cells.
2) Acquired mutations.- are produced in the sexual genome cell and are not
transmitted to the heredity. Even though these are not heredity, acquired mutations
cause anomalies in the growth in cell that leads the cancer tumors formation,
metabolic disorders and other diseases. For example, the long exposition in the
ultraviolet light might cause acquired mutations in the skin cell which cause skin
cancer.
3) Silent or similar mutation.- This mutation does not perform or does not produce
any change in amino acid or organic molecule.

4) Substitution mutation bases. - These mutations occur by changing the location

of a pair of nitrogenous bases.
5) Transitional mutations .- these mutations are known as transitions, this mutation
is to replace one base pair by having same features or similarities, an example of
this mutation would accomplish when you want to change a couple of AT by TA or
CG .
6) Transversional Mutations. - These mutation is done to replace a base by another
base but other as a pair of AT by TA or CG.
7) Bleed mutations. - These mutations is to add or withdraw nucleotide pairs but
this process has a consequence since this tends to alter the length of the string.
For example if you add or base pairs that is not a multiple number three this would
tend to have serious problems because from that point all the information that is
being altered are removed.
8) Deletion of lost nucleotides mutation.- Here there are two types differ as the one
developed in sequence and another chain but the difference is simple; since the
nucleotide sequence in one nucleotide is lost while in the chain this gives us a
disadvantage is foreshortening a single unit.
9) Insertion of new nucleotides mutation. - This mutation develops in order to add
additional nucleotides but these should be brought and thus reach the
corresponding chain lengthening.
10) Mutations in the cleavage sites and union. - this mutation is known by the
scientific name of splicing or shift mutations, this mutation can be caused by some
changes that happen with the messenger RNA splicing. The beginning and end of
each intron in a gene are limited by a conserved sequence of DNA. One of the
disadvantages that arise in this mutation, is whether the nucleotide changes or
mutates into a highly conserved places this site or place will not work anymore,

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with the consequences that will happen in the future for the mature RNA and
translated protein.

RESULTS
Hypertrichosis
The Hypertrichosis is a genetic disease much more strange and less frequent than
the last, affecting only a one of each one thousand millions of people, knowing just
fifty cases register since the Middle Age until today. The most evident symptoms
are: an extreme facial hair, ears, shoulder and the body zones.
Progeria
The Progeria is basically the premature aging in children between one and two
years, which develops fast, sharply and accelerating the organism aging. Also
known as Hutchison-Gilford Progeria, this weird genetic mutation produces the
death between twelve and thirteen years old, because of diseases related with old
ages, even though in some cases individual live until twenty years old.
Syndrome of Proteus
It is a genetic condition in bones, skin and other tissues of body, causing excessive
increase in the skin and bone structure abnormal development. One of the known
cases is the cruelly named elephant man, who suffers from a condition
considered in conjunction with neurofibromatosis type one that affects the
development of neural tissues, leading to numerous tumors in the body.
Severe combined immunodeficiency (SCID)

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This disease is commonly known as "bubble boy syndrome". The disease is

related after the film The boy in the plastic of 1976, which was inspired by a true
story: the life of David Vetter who was the best known of the strange SCID case
lived for thirteen years in a large plastic bubble that its air filtered and eliminated
any pathogen as suffering from this condition, her immune system was completely
ineffective, that is to say, a genetic disease that the body becomes totally
vulnerable, unable even to breathe without taking deadly risks.
OPINION ABOUT MUTATIONS
My opinion about this work is: it seems to me fascinating all wonderful things that
might be made and full utilities which we should give to all of this, but I also think
that we must not

abuse the sense of unnecessary things, else only the ones

provide with benefits.

TRANSGENIC ANIMALS
Transgenic animals are those that possess a gen which doesnt belong to them.
The easiest way to produce transgenic animals involves the isolation of the gen
which requires introducing, it is cloning and manipulating can be expressed by the
white organism and its insertion in the organism. We include that gen in an embryo
in the zygote cover. Once we are sure the embryo was incorporated, the transgen
we implant the embryo in a receptive animal and acts like a mother.
One of the clearest examples of transgenic animals include knockout mice are
more experimental animals used in biomedical for easy handling and fast playback.
At present, it has versions of knockout mice of about 10,000 genes, of which about
500 are animal models of human diseases.

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HOW TRANSGENIC ANIMALS ARE CREATED

There are three ways to modified genetically an animal. The first is the
microinjection. This technique is easily applied to several species, the problem of
this is that the transgene is inserted random, that is why only a five percent of
ovules produce alive animals. The second technique is the retrovirus as vector.
With this technique is obtained that the transgene is present in all individual cells,
but, as in the microinjection case, the gen also inserted random. Finally is the use
of embryonic stem cells. It is the least suitable technique and it is used when it is
important to lead the genetic sequences to specific places. Modified cells are
injected in the embryos in blastocyst phase. Individuals that are produced carry the
gene only in a percentage of their cells.

RESULTS OF TRANSGENIC ANIMALS

Mouse with ears on the back

Phosphorescent rabbit

Pig with human gens

Chimpanzee whit bat gens

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Rat dog humanoid of New York

Rodent with monkey and beaver gens

Mutant turtle whale

Super mouse

Chupacabra ( is the mix of wolf, rodent, dog and goat)

All these animals are the result of the mix of the next animals: Mouse, chicken,
rat, quail, rabbit, salmon, cow, trout, pig, sheep, goat, tilapia, carp, cat fish,
Medaka, golden fish and others.
OPINION ABOUT TRANSGENIC ANIMALS
This topic is very interesting because it is a big advance in this issues even I
dont think they shouldnt make useless things because we dont know how this
changes can react, that they can harmful for us and the specie.
ROLE OF TRANSGENIC ANIMALS TO PEOPLE AND THE WORLD
TRANSGENIC ANIMAL FOR HUMAN CONSUME
Nowadays, there isnt any transgenic animal which consuming is authorized.
Scientific of the AquaBanty Technologies North American factory have
produced specie of transgenic salmon that grows the double that a normal
salmon and higher speed. This transgenic salmon, called Aqua Advantage,
contains the hormone growing of Chinook salmon. The Canadian government
has authorized the production and export of not fertile eggs from this transgenic
fish. Despite of its production and selling for human consume is not authorized,
is a step closer.
BENEFITS FOR PEOPLE

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The real and potential applications that transgenic animals contributed are
multiples. First, they get better the basic searching, that makes it easy a higher
understanding about mechanisms working and control of gens. Second, they
benefit the animal production, allowing the obtaining of more growing with less
energy consume. Likewise, they allow to modified specifically some
characteristics of food product, as milk, making them more suitable for human
consume or more easily transformable for the industry. Their application
reaches also the sanity toppy, so that the trans-genesis makes the animal
models developing easily for the study of human or animal diseases, and it
helps in the understanding of so important mechanism like the proliferation and
the cells different.
DISEASES THAT TRANSGENIC ANIMALS PRODUCE IN THE
ENVIRONMENT
1.

Loss of natural pests control:

Some transgenic crops are made with the pesticides that are inside them.
When pesticides are using without careful control, pest might be resilient to
them.

2.

Harm to wild life and lands:

Pesticides of transgenic crops kill insects and bacteria that are useful and
life in the ground. Also they might be harmful for birds, bats and other animal
that help in the plant pollinations and pests control.

3.

Effects in nearby plants:

The pollen of transgenic crops flies with the wind and it spreads to other
similar plants. How transgenic plants are new, nobody knows the possible
effect that this situation will have in long term.

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PRINCIPAL EFFECTS IN HEALTH

There are many affects that we need to consider to talk about health
specially:
1 The new allergies by introduction of new proteins in food. In USA, in the
known case of Corn Starlink in the year 2000 was found in the food chain
traces of transgenic corn not allowed for human consume which made
serious problems of allergic reactions.
2 The antibiotics resistance in pathogenic for people. It`s to say some
transgenic might be transfer to the bacteria and resistance to determined
antibiotics which are used for fight against diseases with humans and
animals.

One

opinion

by

the

BRITANIC

MEDICAL

ASOCIATION

recommends forbidding the use of these gens.

3 The new toxics in the food
4 The Increasing of the pollution in the food by a higher use of chemical
products in the farming
5 The Decreasing in the capacity of fertility. About a survey made public by the
Austrian government, the fertility of mice fed with corn genetically modified
was seen seriously damaged, with a less offspring which mices fed with
conventional corn.
INFLUENCE OF TRANSGENIC ANIMALS IN THE WORLD
Techniques had allowed developing transgenic animals more recently, which
means animals that have been added one or some genes in their genetic material.
If the first transgenic animals were mice, these were only served as laboratory
tools. But later it was able to incorporate the technology to animals of economic
importance with different objectives. Gens are able to add in animals to offer more
useful products like better quality or more health, as for example, cows which give
milk with some important proteins to health and the nutrition of the baby. These
techniques are able to use also to the improvement, generating animals that grow
faster, like salmons and catfishes, or animals that resist diseases, as resistant
cows to the mastitis.
The phosphorous excreted by animals produce new changes in seaweed, in
lakes and rivers that deplete the oxygen creating wide lands without fish or aquatic

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organism. Although transgenic animals dont exist in supermarkets, there are

transgenic goats that generate an anticoagulant protein in udders, this product is
the first medicine produce in transgenic animals and it is approved by regulatory
agencies of Europe and USA.
Advantages of transgenic animals
Know the details of how disease genes are the key to find better treatments,
therapies and diagnostic procedures.
Resistance to diseases
Use as bioreactors, that is, the result of obtaining large quantities of a biological
product
Testing of vaccine safety and chemicals
They allow studying the development of diseases in longer periods of time and
therefore more realistic.
Disadvantages of transgenic animals
New proteins expressed when genes are inserted from other species can trigger
allergic or hypersensitivity reactions in some people
Few fetuses survive
Multiple integration (tandem or not)
Place indefinite integration (position effect)
Methylation and lack of expression
Mosaicism (germinal and somatic)
Specific Expression / ectopic
Variable Expression

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Development of animal models for studying human diseases

The human genome, sequenced in 2004, has 20,000 to 25,000 genes responsible
for the formation and maintenance of the human body. Much of human diseases
have a hereditary basis and are caused by mutations in genes. Moreover, there is
a close agreement between the genomes of different species of mammals.
Therefore, the transgenic animal models are helpful in understanding the role of
genes in the development of a disease or to reproduce human diseases in
animals , in order to investigate new treatments. There transgenic animal models
for the study of a wide variety of human diseases.
The characteristics of an ideal animal model are:
Ease of breeding.
Short reproduction.
Numerous offspring.
Availability of methods of genetic and experimental manipulation.
High number of conserved genes compared to humans.
The application of transgenic technology has been particularly useful to examine
the importance in the expression of certain genes in the pathogenesis of many
diseases. They often appear in the news media that collect new discoveries in
which involved transgenic animals are, it is well known that the development of
animal models has been instrumental in advancing the understanding of
oncogenes and oncogenic viruses, but others many examples of scientific
advances in transgenic mice are also important tools.
For some diseases, Knockout mice are good models, but mice and humans differ
significantly in their anatomy, physiology and lifestyle, so using the mouse as a
genetic model has shown some limitations to the study of many human characters.
Farm animals such as pigs, sheep and cattle, may be more appropriate models to
avoid some problems, such as the requirement for longer periods in the study of

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many human diseases observation. Transgenic pigs were used as experimental

study model of retinitis pigments.

Use of genetically modified animals as organ donors for humans

xenotransplantation
However, one of the challenges is the balance between supply and demand:
Unfortunately, many patients die before accessing the desired transplant, and even
if our country continues to lead the world ranking donation of organs, growing trend
in the reduction of deaths from traffic accidents and increased life expectancy. This
balance will be unbridgeable in the medium term if we apply innovative techniques
to increase the number of transplantable organs. Therefore, the possibility of using
animal species as organ donors was raised many years ago.
The main causes giving rise to the existence of immunological barriers in
xenotransplantation include:
1) The response of hyper acute rejection, which occurs in seconds or minutes after
transplantation.
2) Acute vascular rejection, occurring nowadays.
3) And, potentially chronic cellular rejection, occurring weeks after transplantation.
CONCLUSION
As a conclusion, I can say that these new technologies scared me, because we
don`t know the effects that these animals produce in the future, as much in the
case of modified animals which we can eat as in the case of cloning animals, there
will have be, problems in the world as people who want to use techniques in their
benefice or there is a control in the market by multinationals which have
biotechnological laboratories and has a production much higher than the rest.
On the other hand, the techniques which are being applied in healing diseases, as
cows that use to produce antibodies for people in a lot of quantities, seem to me a
good idea, and I don`t believe that there is something bad in it.

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Also the creation of new organs in laboratories is something very good and useful,
although of all ways we might not know, if can have a secondary effect in the
future. In summary, it seems we can get magnificent things from all of this, but I
have controversies about conclusions that genetic engineering has.