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Molecular

Genetics
Chromosomes, DNA, Mitosis, and Meiosis
What did Mendel not
know?
Mendel died in 1869.
DNA was discovered in 1869 by
Friedrich Miescher.
Watson and Crick discovered the
double helix in 1953.
Central Dogma of Modern
Genetics
What is a protein?
How do proteins control our
traits?

They do most of the work


in cells and are required for
the structure,function,
and regulation of the
body's tissues and organs. Proteins are made up from long strings
of amino acids called polypeptides.
The Structure of DNA
DNA (deoxyribonucleic
acid) is the main
molecule that makes up
chromosomes and is
made up of molecules
called nucleotides.
Structure of a
Nucleotide
Each nucleotide
contains a
phosphate group, a
sugar group and a
nitrogen base.
Chromosomes
DNA is stored in the form of
a chromosome.

A chromosome is a very
long strand of DNA that
typically contains many
genes.
We are more used to seeing
the condensed form of a
chromosome.
Haploid and Diploid
Most of the cells in your body
(somatic cells) are diploid.

They have 2 copies of the


genetic information needed
function.

Gametes are haploid i.e.


they have half the genetic
information.
Sister chromatids
To further
complicate matters
each chromosome
in the chromosome
pair will make a
duplicate copy of
itself during cell
Name the
parts
P= Phosphates

S= Sugars

ATCG=
nitrogenous bases
Monomers and
Polymers
DNA Base Pairing
The nucleotides in DNA
pair up in the following
patterns:

Adenine Thymine

Guanine - Cytosine
RNA Transcription
In order to express a
gene DNA is transcribed
into another molecule -
RNA.
The RNA codes for a
protein. This process is catalyzed
by the enzyme RNA
polymerase
Structure of RNA
Unlike DNA,
Ribonucleic Acid
(RNA) consists of
only a single
strand of
nucleotides.
RNA Base pairing
In a molecule of RNA
nucleotide Thymine is RNA

paired with the


nucleotide Uracil as it
DNA
is transcribed from
DNA.
RNA Transcription
A molecule of RNA is
transcribed from DNA.
The RNA molecule will
be used as a blue
print for a protein.
Messenger RNA
Once it has been transcribed the RNA may be
further altered by structures within the nucleus of a
cell. It is then called mRNA.
Introns and Exons
Introns are
removed from the
original
transcribed DNA.
The exons are
pieced together
and become the
mRNA molecule.
Cap and Tail
The final stage is the addition of a 5
cap and a poly-A tail.
The Phases of
Transcription
Initiation

Elongation

Terminatio
Initiation
RNA polymerase binds to DNA at a specific
sequence of nucleotides called the promoter.

The promoter contains an initiation site where


transcription of the gene begins.

RNA polymerase than unwinds DNA at the


beginning of the gene.
Elongation
Only one of the unbound DNA strands acts as a
template for the RNA synthesis.

RNA polymerase can only add nucleotides to the 3' end


of the strand so like DNA, RNA must be synthesized in
the 5' to 3' direction.

Free nucleotides from the cytoplasm are paired up with


their complementary bases on the exposed DNA
template.
5 to 3 Direction
The 5 to 3 refers to
the carbons in the
sugar molecules of
DNA and RNA.
Termination
RNA polymerase continues to elongate until it reaches
the terminator, a specific sequence of nucleotides that
signals the end of transcription.

Transcription stops and mRNA polymerase and the new


mRNA transcript are released from DNA.

The DNA double helix reforms.

This configuration stops RNA polymerase from


Translation
The mRNA will then leave
the nucleus of the cell.
Where it will connect with a
ribosome in the cytoplasm.

The molecule transfer RNA


(tRNA) will then bind to the A ribosome is a small molecule
made from RNA and proteins. It is
mRNA/ribosome. used to help construct the finished
protein using the mRNA as a plan.
Translation
The mRNA is read in
3 codon segments.

Each 3 base segment


corresponds to
another new
molecule of tRNA.
tRNA
The tRNA molecules each bring a
specific amino acid to the ribosome
forming a long chain called a
polypeptide.

Different polypeptides will be folded


into the finished protein.
Phases of Translation
Initiation: The
ribosome
assembles around
the target mRNA.
The first tRNA is
attached at the
start codon.
Phases of Translation
Elongation: The
tRNA transfers an
amino acid to the
tRNA
corresponding to
the next codon.
Phases of Translation
Termination: When
a stop codon is
reached, the
ribosome releases
the polypeptide.
Transcription/Translation
Animation
Triplett
Code
The mRNA is read
in 3 a base codon.

The codon AUG is


the start codon.

Each codon
corresponds to a
particular AA.
Cell Replication
Why do cells
replicate?

Why not just


get bigger?
DNA Replication
When an organism needs more cells
it makes a copy from existing cells.

To do this it must first replicate its


DNA?
Semi-Conservative
Replication
DNA is replicated
using the existing
DNA as a template for
new copies of DNA.

This is known as a
semi-conservative
model.
DNA Replication
DNA Replication
DNA replication is a complex
process controlled by the following
enzymes (proteins);

DNA polymerase
Helicase
Helicase
DNA Helicase is the
enzyme that
unzips the DNA.

The helicase
creates a
replication fork.
DNA Polymerase
DNA polymerases
are enzymes that
synthesize DNA
molecules from
nucleotides, the
building blocks of
DNA.
Mitosis
In order to grow and
repair tissue the cells of
an organism need to
reproduce.

The process of mitosis


involves the creation of
identical copies of a cell.
And

and cytokinesis
The Cell Cycle

se
e
The cell cycle is the series ha
s

ha
p

op
t a se
of events that take place e a

Pr
M aph
An a se
in a cell leading to its l o ph
Te
division.

It involves duplication of
its DNA (DNA replication)
and produces two
daughter cells.
Gamete formation
In the last unit we looked at the
Mendelian principles of Segregation
and independent assortment.

These divisions of genetic


information must occur during the
formation of gametes.
Meiosis
Meiosis is a process that at first glance
looks similar to mitosis.

However the end cells produced contain a


reconfigured DNA and only half the
amount of genetic information as a regular
body cell (somatic cell).
Diploid and Haploid
Somatic cells have a second copy of each
chromosome (diploid).
Gametes have a single copy of each
chromosome (haploid).
When two gametes (haploid cells)
combine they create a new diploid cell.
Homologous
Chromosomes
The cell has two sets of each
chromosome; one of the pair is
derived from the mother and
the other from the father.
The maternal and paternal
chromosomes in a homologous
pair have the same genes at
It is easy to confuse a replicated single
the same loci, but possibly chromosome and the familiar X shape
with a homologous pair and the XX
different alleles. shape.
Sister chromatids
Remember the
above diagram
shows the sister
chromatids (the
replicated
chromosome) and
the second
Crossing Over
Crossing over occurs between
prophase 1 and metaphase 1.
It is the process where
homologous chromosomes pair
up with each other and
exchange different segments of
their genetic material.
This forms recombinant
chromosomes.
Linked Genes
Genetic crossing over usually
ensures that genes on the
same chromosome still assort
independently.

The closer to genes are


together on the same
chromosome the less they will
appear to assort
independently.
Locus
The locus of a gene is its
physical location on a
chromosome.

This is important for


determining the
likelihood of two genes
being inherited together.
Genes code for proteins, proteins
Determine phenotype.
Mutations
What happens when DNA is changed.
Mutations
A mutation is the change in
structure of a gene.

The sequence of bases in a portion


of DNA will be altered in some way.
Types of Mutation
Mutations can be
classified as silent,
nonsense,
missense.
Missense mutations
Missense
mutations result
in a change in
the amino acid
configuration.
Nonsense mutations
In a nonsense
mutation a stop
codon is present in
the transcribed RNA
so the ribosome will
terminate translation
of the AAs.
Silent mutations
The triplet code of RNA
is redundant.

This means that different


codes can code for the
same AA.
A silent mutation does
not result in a change to
protein structure.
Mutations and Evolution
Mutations are the
ultimate source of
genetic diversity.

Evolution through
natural selection results
in the survival of the
fittest.