Javier
Aguilar1, Carlos Mas2, Luis Losinno1 y Adrián
Filiberti2.
1Produccion Equina, Universidad Nacional de Río
Cuarto (jaguilar@ayv.unrc.edu.ar), 2CEPIDEM, Fac. Cs.
Medicas, Universidad Nacional de Córdoba (carlos@dqb.fcq.unc.edu.ar)
Currently
we are witnessing a revolution in science and we hear
scientists and experts daily announcing the identification
of new genes, new genetic mutations which are the cause
of diseases, the creation of transgenic animals, etc.
But what do these complex words really mean? How can
these advances be of use to us? How near to our everyday
life are they?
We
are led to speculate on the importance of these advances
when we see the interest shown in them by developed
countries. As from a few years ago a consortium of state
and private pharmaceutical companies have provided large
sums of money ( approximately 7,000 million dollars)
for a group of scientists to discover the human genetic
makeup – The Human Genome Project.
In
1999 the president of the USA announced that this project
was almost ended and that the impact of the information
was so enormous it could not be owned by any one company
but belonged to humanity as a whole and the first draft
of the human genome was published.
At
the same time, since the mid 90’s a project known
as the International Equine Gene MappingWorkshop is
underway thanks to the collaboration of a consortium
of pharmaceuticals from the USA, France, UK, Japan and
Australia.
At
this point in time the first part of the equine genomic
map has been published and it is expected the second
part will be finished this year.
But
why are we interested in knowing the genetic makeup
of horses? Why has so much time and money gone into
this effort?
Basically because knowledge of the genes of animals,
and in this case horses, can be immediately applied
so as to substantially modify equine production.
To
put it in other words, genetic information correctly
interpreted by trained scientists is…money.
Alvin
Toffler (writer, researcher and social communicator)
said that the economic history of humanity could be
divided into three eras: the first was the era of agriculture
and the written work, the second era was the era of
capital and industry and the current era is the era
of information and knowledge.
Basically,
knowing the genetic makeup of horses will allow the
breeder to know, for example, if a stallion has greater
or lesser fertility, if he will transmit a genetic disease
to all his get, how his sperm will react to freezing
techniques and in the case of mares the probability
that they will have multiple ovulations, their response
to superovulation techniques, etc.
(Murray,J.D. Horse genomics and Reproduction, VIII International
Symposium on Equine Reproduction, Ft. Collins, USA,
Julio, 2002)
All
the characteristics of a horse are determined by its
genes and the effects of the environment in which it
develops. Genes determine the coat colour, eye colour,
height, and the greater tendency to suffer different
diseases.
Genes
are parts of a moleculle known chemically as DNA or
Desoxirribonucleic acid, they are within the cell nucleus
which is where they carry out their activities.
DNA
can be graphically represented as two strands or ribbons
which face each other and twine round each other, fitting
exaclty into each other, rather like a zip (see illustration).
In a zip the teeth are all the same, but in DNA these
“teeth” are called nucleotides and there
are 4 different types: Adenine (A), Cytosine (C), Guanine
(G) and Thymine (T). IN the nucleus of each human cell
there are about 3,000 million nucleotides in each strand
of DNA. Their lineal sequence for example, in one case,
may be ATTTGTGTCCATGCGACTCTCACGC.
To
read DNA is to learn this sequence, that is in the example
to know that the first nucleotide is A the second T,
etc. This sequence contains the information responsible
for the diversity of life, that is to say the DNA of
an orchid contains the same four nucleotides (A, T,
C, G) as the DNA of a human being, a hummingbird or
a horse. The only thing that varies is its lineal sequence.
Every
living cell possesses the mechanism necessary for “reading”
this sequence of DNA nucleotides and by means of a complex
process to translate it so as to form another molecule
known as a protein.
To
put it simply a gene is a portion of DNA capable of
producing a protein. In this manner the biochemical
machinery of a cell, using the information contained
in the DNA, is capable of synthesizing thousands of
different proteins according to the nucleotide sequence
of the DNA which acted as a template.
Now
that the Human Genome is known and therefore human DNA
sequence, and this has been “trnaslated”
using biocomputer methods, 30,000 different proteins
have been determined to correspond to 30,000 genes.
Proteins carry out the basic biochemical tasks that
maintain life. The 30,000 genes present in each of our
cells determine that we are who we are. In general terms
we may say that the difference between a human being
and a hummingbird is, precisely, that they have different
genes – that is to say different DNA sequences
– which produce different proteins.
Between
two different species – humans and hummingbirds
for example – there are more genetic differences
than within one species. And within one species there
are more differences between non-related individuals
than between related individuals. The closer the realationship,
less will be the genetic differences.
It
must be mentioned that there are portions of DNA which
are also called genes which do not synthesize proteins
and to greater complicate matters there are genes that
synthesize more than one protein.
By
means of genetic analysis horse breeders could correctly
plan services so as to avoid the transmission of genes
with defects to the next generation.
This
type of analysis, both trustworthy and useful, would
be a powerful diagnostic tool in horse selection and
would allow the improvement of horse breeds and serve
to determine the exclusion of horses from prestigious
associations’ books both in the USA and in Europe.
The
strictly practical uses of our current knowledge of
DNA which can be applied to horse breeding are two:
1) The determination of paternity .
2) The detection of animals who are transmitters of
genetic diseases and the ability to predict the coat
colour.
The
genetic diseases which can currently be determined by
means of DNA analysis are three:
a) Syndrome of Severe Combined Inmunodeficiency (SCID).
b) Hypercalcaemic Periodic Paralysis (HYPP)
c) Lethal White Piebald Foal Syndrome (SLPOB)
In
plain words what is currently being done
The
Pilot Centre for the Detection of Metabolic Errors CEPIDEM,
which belongs to the School of Medicine of the University
of Cordoba, Argentina (Facultad de Ciencias Médicas
de la Universidad Nacional de Córdoba) offers
a service called SCID and will soon offer HYPP and SLPOB.
We
believe that breeders working on genetic improvement
programs may find these tools to detect hereditary diseases
in horses useful.
Scientists
have put a lot of effort into desciphering the mechanisms
by means of which a small alteration in a cellular component
leads to a disease. These tools are very powerful if
properly used and can help us to be on the cutting edge
o technology. They are used by developed countries,
well aware of their enormous potential, to maintain
their leadership.
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