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Presentation of Proteomics and Genomics
Presentation of Proteomics and Genomics
Replication
Regulation of transcription
eukaryotic cells that convert chemical energy from food into a form that cells can
Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell, most of the
DNA can be found in the cell nucleus and, in plants and algae, also in plastids such
as chloroplasts. Mitochondria are small structures in cells that generate energy for the cell to
The mitochondria, and thus mitochondrial DNA, are passed almost exclusively
Eighty percent of mitochondrial DNA codes for mitochondrial RNA, and therefore most
REPLICATION
The promoters for the initiation of the transcription of the heavy and light strands are located in the main non-
coding region of the mtDNA called the displacement loop, the D-loop.
There is evidence that the transcription of the mitochondrial rRNAs is regulated by the heavy-strand promoter 1
(HSP1), and the transcription of the polycistronic transcripts coding for the protein subunits are regulated by
HSP2.
GENES ON THE mtDNA AND THEIR TRANSCRIPTION
Two strands of the human mitochondrial DNA
Heavy strand
Light strand.
The heavy strand is rich in guanine and encodes 12 subunits of the oxidative
phosphorylation system, two ribosomal RNAs (12S and 16S), and 14 tRNAs.
The light strand encodes one subunit, and 8 tRNAs. So, altogether mtDNA encodes
for two rRNAs, 22 tRNAs, and 13 proteins subunits, all of which are involved in the
oxidative phosphorylation process.
PREPARED BY ARIFA MUGHAL
MITOCHONDRIAL DISEASES
Mitochondria are found in every cell of the human body except red blood cells, and
convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases are sometimes caused by mutations in the mitochondrial DNA that
affect mitochondrial function. Other mitochondrial diseases are caused
by mutations in genes of the nuclear DNA, whose gene products are imported into the
mitochondria.
EXAMPLES
Leigh syndrome
Mitochondrial myopathy
MELAS syndrome
Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy)
is an inherited neurometabolic disorder that affects the central nervous system.
It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the
condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine
diphosphate are commonly found but there is a reduced or absent level of thiamine
triphosphate.
Children with early Leigh disease also may appear irritable and cry much more than usual.
Excess lactate may be seen in the urine, cerebrospinal fluid, and blood of a person with
Leigh syndrome.
As the disease progresses, the muscular system is debilitated throughout the body, as the
brain cannot control the contraction of muscles.
The heart and lungs can also fail as a result of Leigh disease.
dehydrogenase deficiency, high forehead and large ears are seen; facial abnormalities are
Neurological symptoms include peripheral neuropathy, loss of sensation in extremities caused by damage to
the peripheral nervous system.
GENOMICS
Mutations in mitochondrial DNA (mtDNA) and over 30 genes in nuclear
DNA (gene SURF1 and some COX assembly factors) have been implicated in Leigh
disease
Disorders of oxidative phosphorylation, the process by which cells produce their main
energy source of adenosine triphosphate (ATP), may be caused by mutations in either
mtDNA or in nuclear encoded genes.
Four out of the five protein complexes involved in oxidative phosphorylation are most
commonly disrupted in Leigh syndrome, either because of malformed protein or because of
an error in the assembly of these complexes. Regardless of the genetic basis, it results in an
inability of the complexes affected by the mutation to perform their role in oxidative
phosphorylation. In the case of Leigh disease, crucial cells in the brain stem and basal
ganglia are affected. This causes a chronic lack of energy in the cells, which leads to cell
death and in turn, affects the central nervous system and inhibits motor functions. The heart
and other muscles also require a lot of energy and are affected by cell death caused by
chronic energy deficiencies in Leigh syndrome.[1]
MITOCHONDRIAL DNA MUTATIONS
Mitochondria are essential organelles in eukaryotic cells. Their function is to convert the
potential energy of glucose, amino acids, and fatty acids into adenosine triphosphate (ATP)
in a process called oxidative phosphorylation. Mitochondria carry their own DNA, called
mitochondrial DNA (mtDNA). The information stored in the mtDNA is used to produce
several of the enzymes essential to the production of ATP.
inheritance — a mother can transmit the genes for Leigh syndrome to both male and female
children, but fathers cannot pass down mitochondrial genes
PREPARED BY ZAFAR HAYAT
MELAS syndrome
one of the family of mitochondrial cytopathies which also include MERRF, and Leber's
hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of
these diseases is that they are caused by defects in the mitochondrial genome which is
MELAS is mostly caused by mutations in the genes in mitochondrial DNA, but it can also
NADH dehydrogenase
Some of the genes (MT-ND1, MT-ND5) affected in MELAS encode proteins that are part
CHLOROPLAST DNA
Chloroplasts have their own DNA, often abbreviated as cpDNA.
NucleoidS
Each chloroplast contains around 100 copies of its DNA in young leaves, declining to 15–20
copies in older leaves.
Though chloroplast DNA is not associated with true histones in red algae, a histone-like
chloroplast protein (HC) coded by the chloroplast DNA that tightly packs each chloroplast
DNA ring into a nucleoid has been found.
PREPARED BY RIDA SEEMAB
MOLECULAR STRUCTURE
Chloroplast DNAs are circular, and are typically 120,000–170,000 base pairs long.
They can have a contour length of around 30–60 micrometers, and have a mass of
about 80–130 million daltons.
Most chloroplasts have their entire chloroplast genome combined into a single large
ring, though those of dinophyte algae are a notable exception—their genome is
broken up into about forty small plasmids, each 2,000–10,000 base pairs long. Each
minicircle contains one to three genes, but blank plasmids, with no coding DNA,
have also been found.
PROTEIN SYNTHESIS
RNA polymerase that is encoded by the plant's nuclear genome. The two RNA polymerases
may recognize and bind to different kinds of promoters within the chloroplast genome.
The mechanism for chloroplast DNA (cpDNA) replication has not been
conclusively determined, but two main models have been proposed.
Scientists have attempted to observe chloroplast replication via electron
microscop since the 1970s.
The results of the microscopy experiments led to the idea that
chloroplast DNA replicates using a double displacement loop (D-loop).
As the D-loop moves through the circular DNA, it adopts a theta
intermediary form, also known as a Cairns replication intermediate, and
completes replication with a rolling circle mechanism.
Replication starts at specific points of origin.
In addition to the early microscopy experiments, this model is also supported by the amounts
of deamination seen in cpDNA.
Deamination occurs when an amino grouP is lost and is a mutation that often results in base changes.
When adenine is deaminated, it becomes hypoxanthine. Hypoxanthine can bind to cytosine, and when
the XC base pair is replicated, it becomes a GC (thus, an A → G base change).
DNA becomes susceptible to deamination events when it is single stranded. When replication forks
form, the strand not being copied is single stranded, and thus at risk for A → G deamination.
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