EFFECTS OF

GENES OF
ORGANISMS
THROUGH THE
ACTION OF
PROTEINS

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Dela Torre, Ed Zigmund

Langreo, Brian
Mendoza, Jullian Peter
Palmares, Kirby Louis
Solano, John Paul

What are genes?

A gene is a basic unit of heredity in a living

organism that normally resides in long strands of
DNA called chromosomes.
Genes are coded instructions that decide what the
organism is like, how it behaves in its environment
and how it survives.
They hold the information to build and maintain an
organisms cells and pass genetic traits to
offspring.

What are proteins?

Proteins are large, complex molecules that play

many critical roles in the body.
They are necessary for building the structural
components of the human body, such as muscles
and organs.
Proteins also determine how the organism looks,
how well its body metabolizes food or fights
infection and sometimes even how it behaves.

How do genes direct the production of proteins?

Most genes contain the information needed to make

functional molecules called proteins.
The journey from gene to protein is complex and tightly
controlled within each cell.
It consists of two major steps: transcription and
translation.
Together, transcription and translation are known as gene
expression.

Through the processes of transcription and

translation, information from genes is used to make
proteins.

 Replication, transcription, and translation are the 3 main

processes used by cells to maintain their genetic information.
As well as to convert genetic information encoded in DNA into
gene products, which are either RNAs or proteins.

EPIGENETICS

Epigenetics:
Is the study in the field of genetics, of cellular and
physiological phenotypic trait variations.
causes by external or environmental factors that
switch genes on and off and;
affect how cells read genes instead of being
caused by changes in DNA sequence.
Epigenetic mechanisms are affected by several
factors and processes including development in
utero and in childhood, environmental chemicals,
drugs and pharmaceuticals, aging, and diet.

Epigenetic Mechanisms:

What is the epigenome?

The epigenome is a multitude of chemical

compounds that can tell the genome what to do.
The human genome is the complete assembly of
DNA (deoxyribonucleic acid)-about 3 billion base
pairs - that makes each individual unique. DNA
holds the instructions for building the proteins
that carry out a variety of functions in a cell.

Is the epigenome inherited?

The genome is passed from parents to their

offspring and from cells, when they divide, to
their next generation.
When cells divide, often much of the epigenome
is passed on to the next generation of cells,
helping the cells remain specialized.

PROTEOMICS

Alternative splicing and its impact on protein identification

Alternative splicing is the process in which the

primary transcript of a gene is reorganized to
produce a different protein than the primary
transcript.
Alternative splicing has been observed as a
mechanism to produce tissue specific proteins
from a signe gene.
Alternative Splicing is a major source of protein
diversity in living organisms.

Examples of Alternative Splicing

Alternative splicing has been implicated in several

diseases. An example of a disease that plays a role in
alternative splicing is Rett syndrome.
This disease is found primarily in girls and is characterized
by problems in forming connections between neurons, or
synapses
It is believed that the gene MECP2 produces a protein that
regulates alternative splicing of some proteins.
When this gene is disrupted, transcripts of other genes
that would normally be spliced by MECP2 are not spliced,
leading to Rett the phenotype of the syndrome.

Splicing Mechanism

Splicing occurs through the mechanism of the

Spliceosome.
The spliceosome consists of a number of proteins
and snRNA components. snRNAs U1, U2, U3, U4,
U5 and U6
Once the spliceosome has formed, the sites are
cleaved to bring the correct exons (or introns)
together.
SPLICEOSOME COMPLEX

There are 4 common types of alternative splicing, they are as

follows:
Alternative promoter selection: A different promoter is used
for different splice variants. This results in a different start of the
mRNA transcript.
Alternative selection of cleavage/polyadenylation sites:
Different exons are spliced based on recognition of different
cleavage or polyadenylation sites, entire exons can be skipped.
Results in a different exon at the 3 end of the transcript.
Intron retaining: Introns are used as coding regions. A
sequence that is normally considered an Intron is retained in the
final transcript that serves as a template for translation.
Exon cassette: Entire exons can be skipped in the middle of the
protein, resulting in a different transcript

Mutation and Genetic Variation

If a particular gene is mutated (the deoxyribonucleic acid

[DNA] sequence is somehow altered), the result can be a
change in the
amino acid sequence of a protein or the quantity of
a protein
produced
Such a change may affect phenotype for the organism in
a detrimental manner (for example, a mutation that
causes muscle deterioration in humans), a seemingly
neutral manner (a change from purple to green stems in
cultivated tomato plants), or sometimes even a beneficial
manner (a mutation that allows a soil bacterium to
survive freezing).

Mutation Affects Protein Function

In order to understand how mutations cause
changes in phenotype, it is essential to study
how mutations affect protein function. If one
amino acid in the protein sequence is
changed to another with very similar
properties, the conformation of the folded
protein may not be functionally altered.

 However, if the amino acid change is substantial (for

instance, from small to large or from nonpolar to
polar ), the protein architecture may be altered in such
a way as to cause a decline or abolition of function. It is
likely that such a loss of function will ensue from
mutation, since protein function has been fine-tuned
during evolution and depends on the precise
architecture of the protein. (If a person whacks a
computer with a sledgehammer, it is unlikely that the
computer's performance will actually increase.)

 An enzyme may work at its job overtime, for

example, by synthesizing excessive quantities of a
product. Although a hardworking protein may sound
like a benefit to the organism, this is rarely the case.
Such gain-of-function mutations are usually toxic,
disrupting the delicate balance of biomolecules
needed for life.

END