Pamphlet with the presentation of two news on Genetic Transcription: - How 1,000 new genetic variants were discovered in blood groups - New mechanisms of gene inactivation may prevent aging and cancer

1. Genetic
Transcription
Jaime Andrés Mejía Sánchez.
Medicine student.

2. MEDICAL
UTILITY
We can see that genetic transcription has
a great importance in the practice of
medicine; And this is reflected in both
news.
With the discovery of 1.000 new variants
in blood groups, we can verify the
prevalence of the polymorphism
generated during
the alternative
splicing mechanism.
Was something
that was omitted
before and that ha-
ving had knowledge
of it before, could
have avoided many complications.
The results presented in these research
give encouragement to health professio-
nals and patients to continue struggling
to find a cure as occurs with the inactiva-
tion of RNA polymerase by the presence
of methyl groups in the promoter and the
DNA sequence.
GENETIC
TRANSCRIPTION
By: Jaime Andrés Mejía Sánchez
Molecular Biology
UPB
- Lund University. (2017, January 26).
How 1,000 new genetic variants were
d i s c o v e r e d i n b l o o d
groups. ScienceDaily. Retrieved
F e b r u a r y 2 5 , 2 0 1 7 f r o m
w w w . s c i e n c e d a i l y . c o m /
releases/2017/01/170126081721.htm
- Leibniz Institute on Aging – Fritz
Lipmann Institute (FLI). (2017,
February 23). New mechanisms of gene
inactivation may prevent aging and
cancer. ScienceDaily. Retrieved
F e b r u a r y 2 6 , 2 0 1 7 f r o m
w w w . s c i e n c e d a i l y . c o m /
releases/2017/02/170223101841.htm
- MARTINEZ SÁNCHEZ, Lina María.
Biología molecular. 8. ed. Medellín:
UPB. Fac. de Medicina, 2015. 117 p.
BIBLIOGRAPHY

3. INTRODUCTION
Genetic transcription is the
process for the synthesis of an
RNA molecule from a strand of
DNA (3' → 5') by RNA polymerase
and it’s transcription factors.
This process has several events,
which include initiation, elonga-
tion, and termination.
The control of transcription in
eukaryotes, occurs mainly in the
initiation and in some occasions in
the elongation.
1,000 new genetic
variants discovered in
blood groups
Through the creation of a new computer
program, Mattias Möller processed the
genomes of 2.504 people,
reason why he discover 1.000
hitherto unknown mutations.
“…I started from the genes
instead, to find variations in
DNA which might give rise to a
new antigen, likely to cause
problems in case of transfusion,
for example.”
- Mattias Möller.
What's next?
A future research field is Africa,
where there is greater variation
between different population
groups.
Student’s opinion
The contribution of this research, can
help improve control
the presence of adverse
reactions in blood trans-
fusions, transplants or
even in pregnancy.
Preventing aging
and cancer
During aging as well as during the deve-
lopment of age-induced diseases like cancer,
the activation of genetic informa-
tion is increasingly defective.
What did they find?
For the first time, researchers
from the Leibniz Institute on Aging
in Jena, verified that a lack of methyl groups
even in the gene body, leads to an incorrect
gene activation and, as a consequence, abe-
rrant proteins are produced, which impinge
on the cell structure. Thus, the function and
identity of a cell are massively disrupted
leading to the emergence of cancer.
What do the results entail?
If the damage is caused by a problem in DNA
methylation, it can be prevent by regulated
with chemical compounds.
Student’s opinión
This research is a breakthrough for cancer
therapy. It is important to begin testing ways
to traffic methyl groups to non-methylated
DNA sequences of cancer cells, as an alterna-
tive for stopping the proliferation of these
cells.

4. INTRODUCTION
Initiation
Termination
Elongation
Binding of the RNA polymerase to the
promoter sequence (TATA, GC, etc.)
Action of topoisomerase on DNA.
Beginning of transcription.
Nucleic acid and
protein complex
stabilized by:
Binding of DNA to RNA
polymerase.
Binding of nucleotides between
the nascent RNA strand and
the template DNA strand, in
the enzymatic complex.
Binding of RNA with RNA
polymerase to the enzyme exit
channel.
Separation of transcription complex.

5. How 1,000 new genetic
variants were discovered
in blood groups
January 26, 2017
Lund University

6. How 1,000 new genetic variants were
discovered in blood groups
On the surface of the red blood cells are proteins and sugar molecules,
in which small differences give rise to different antigens.
That antigens have functions such as transporting necessary nutrients
or signalling, and are randomly present in all individuals
(Different individuals express different antigens).

7. How 1,000 new genetic variants were
discovered in blood groups
“Never before has there been a worldwide mapping of blood group genes in healthy individuals.
Most previously known blood group variants were discovered when a blood transfusion failed...“
- Mattias Möller.
B
A
+ Immune reaction
Rejection of the
transplanted organ
Mild and barely
noticeable
Rapid breakdown
of red blood cells
=
Death

8. How 1,000 new genetic variants were
discovered in blood groups
Mismatch blood can lead to death.
Until now the study has focused on
the populations of Europe and North
America. A future research field is
Africa, where there is greater variation
between different population groups.
Many new antigens are likely to be
discovered.

9. Student’s opinion
I suppose that these alterations, variants may be due to an
alternative splicing mechanism.
I think that the contribution of this research, can help
improve control the presence of adverse reactions in
blood transfusions, transplants or even in pregnancy.
Never take anything for granted, just as we saw on this
investigation, everything is constantly changing, and
something that is apparently basic, may be more complex
than it seems.

10. New mechanisms of gene
inactivation may prevent
aging and cancer
February 23, 2017
Leibniz Institute on Aging – Fritz Lipmann
Institute (FLI)

11. New mechanisms of gene inactivation may
prevent aging and cancer
Previous knowledge:
 Gene expression is strictly regulated in order to build tissue-specific cells with
tissue-specific attributes.
 If methyl groups are enzymatically bound to a ge-
ne's starting point, known as the promoter, the res-
pective gene is inactivated.
 The activation of genetic information deteriorates
with aging.

12. New mechanisms of gene inactivation may
prevent aging and cancer
Why does the DNA inside the body of the gene
also methylate as the promoter?
They proved that genes are also aberrantly
activated if DNA methylation is missing within the
gene body.
Here lies why DNA methylation is very often
missing in cancer cells.

13. A lack of DNA methylation
at the gene body.
↑ production of aberrant
proteins
Function and identity of a
cell are disrupted
New mechanisms of gene inactivation may
prevent aging and cancer
New target for cancer therapy.
Find a way to traffic methyl groups
to non-methylated DNA sequences
of cancer cells.

14. Student’s opinion
This research is a breakthrough for cancer therapy. It is
important to begin testing ways to traffic methyl groups
to non-methylated DNA sequences of cancer cells, as an
alternative for stopping the proliferation of these cells.
It is also very gratifying to know that on the day this
therapy is developed, it will represent a less invasive
treatment.

15. M E D I C A L U T I L I T Y

16. M E D I C A L U T I L I T Y
The researches presented in this
pamphlet are important from the point
of view that although we are members
of the same species, there is still a
polymorphism that makes us not
compatible with any individual, and
that must be taken into account at the
time of any invasive procedure in the
practice of medicine, such as a
transfusion, a transplant or a newborn
with fetal erythroblastosis.

17. M E D I C A L U T I L I T Y
As for the news of "new mechanisms of
inactivation of genes", there is now a very big
challenge that is to find the way to apply the
treatment in such a way that it is effective and
reaches its destination.

18. M E D I C A L U T I L I T Y
It would be wise if scientists were not so limited
to develop treatments of this kind, since gene
therapy is a procedure that is not invasive and
with which the patient is not subjected to stress.

19.  Lund University. (2017, January 26). How 1,000 new genetic variants
were discovered in blood groups. ScienceDaily. Retrieved February 25,
2017 from www.sciencedaily.com/releases/2017/01/170126081721.htm
 Leibniz Institute on Aging – Fritz Lipmann
Institute (FLI). (2017, February 23). New
mechanisms of gene inactivation may prevent
aging and cancer. ScienceDaily. Retrieved
February 26, 2017 from www.sciencedaily.com/
releases/2017/02/170223101841.htm
 MARTINEZ SÁNCHEZ, Lina María. Biología
molecular. 8. ed. Medellín: UPB. Fac. de
Medicina, 2015. 117 p.
BIBLIOGRAPHY