Unit 1-DNA-stucture & Function-C08 Roscoe 1e

9/10/2015
The Central Dogma

DNA
(nucleus)
Chapter 8
RNA
Protein
(nucleus)
cytoplasm (ribosomes)
DNA Structure and Function

transcription
translation
Prepared by
Wendi Roscoe
Fanshawe College
Copyright
2016
Nelson
Education
Ltd. Ltd.
Copyright
by
2016
by Nelson
Education
Copyright 2016 by Nelson Education Ltd.
8.1 DNA Structure
8.1 DNA Structure
Nucleic acids are very long polymers that are made

up of nucleotides.
Each nucleotide has three parts:
1. a five-carbon sugar (ribose or
deoxyribose)
2. a phosphate group
3. an organic nitrogen-containing base
What do DNA and RNA stand for?

What are the three differences between DNA
and RNA?
1. DNA has thymine; RNA has uracil.
2. DNA is double stranded; RNA is single
stranded.
3. DNA has deoxyribose; RNA has ribose.
What are the five nucleotides?

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8.1 DNA Structure
8.1 DNA Structure
The structure of DNA is a double helix.

Only two base pairs are possible.
Adenosine (A) pairs with thymine (T).
Cytosine (C) pairs with guanine (G).
The bond holding together a base pair is a
hydrogen bond.
The sugar-phosphate backbone consists of
phosphodiester bonds.
8.1 DNA Structure
8.1 DNA Structure

The structure of DNA helps it to function.
The hydrogen bonds of the base pairs can be easily
broken to unzip the DNA so that information can be
copied.
Each strand of DNA is a mirror image, so the
DNA contains two copies of the information.
Having two copies means that the information can
be accurately copied and passed to the next
generation.
Nucleotides differ in regard to their bases.

Large bases are called purines and have a double-ring
structure: Adenine and Guanine
Small bases are called pyrimidines and have a singlering structure: Cytosine and Thymine
Edwin Chargaff noted that DNA molecules always
have equal amounts of purines and pyrimidines.
Chargaffs rule suggests that DNA has a regular
structure.
The amount of A always equals the amount of T.
The amount of C always equals the amount of G.
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8.1 DNA Structure
8.1 DNA Structure
Purines adenine and guanine (double-ring

structures)
Pyrimidines cytosine and thymine (single-ring
structures)
The carbons on
ribose and
deoxyribose are
numbered 1 to 5.
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8.1 DNA Structure
8.1 DNA Structure
Rosalind Franklins work in 1953 using

X-ray defraction revealed that DNA had a regular
structure that was shaped like a corkscrew, or helix.
Francis Crick and James Watson elaborated on the
discoveries of Franklin and Chargaff and deduced that
the structure of DNA was a double helix.
Two strands of DNA bind together by their bases.
This happens because a purine of one strand binds
to a pyrimidine on the other strand.
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8.1 DNA Structure
8.1 DNA Structure

ATP is a nucleoside triphosphate that is produced in
all cells and is the primary source of energy for all
cell functions.
GTP can also be used as energy in cells.
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8.1 DNA Structure Nucleosides
8.1 DNA Structure Telomeres
Our diet is the source of nucleosides in our cells

that can be made into nucleotides for DNA
replication, or for the transcription of RNA
molecules.
All plant and animal cells contain DNA and RNA.
We have enzymes in our digestive tract that break
down nucleic acids into individual nucleosides.
A telomere is a region of repetitive DNA at the end

of every chromosome.
Telomeres protect the end of the chromosome
from deterioration.
The telomere regions shorten during DNA
replication because there is a gap left after the
removal of the first 5 end primer.
Telomeres get shorter after every cell division.
This is what causes our cells to have a specific
lifespan, and this is why we age.
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8.1 DNA Structure
8.1 DNA Structure Telomeres

Prokaryotes do not have telomeres because their
DNA is circular.
An enzyme called telomerase is found in stem cells
and germ cells (give rise to gametes), which
replaces the telomere sequences.
Cancer cells also produce telomerase, which is why
cancer cells are immortalized (never die).
This is also why a telomerase drug cant be used
to prevent aging.
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DNA Trivia
8.2 DNA Replication
The average length of a single chromosome is 2

inches.
We have 46 chromosomes in each cell.
The total length of DNA per cell is about 2.3
metres.
All DNA in every cell of our body (about 50
trillion cells) would stretch to about 300 000 000
metres it would reach to the moon.
The two strands of DNA that form the double helix

DNA molecule are complementary to each other.
Each chain is essentially a mirror image of the
other.
The hydrogen bonds that hold the base pairs
together are weak bonds and, therefore, easy to
separate.
What is the complementary strand of this DNA
sequence: 5 GGTACCAGT 3?
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8.2 DNA Replication
8.2 DNA Replication
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8.2 DNA Replication
8.2 DNA Replication
1. Replication begins at a point of origin; in

eukaryotes there are many points of origin.
2. An enzyme called helicase unwinds the DNA.
3. The section where the DNA is unwound is called
the replication fork.
4. Single-strand binding proteins stabilize the
separated strands of DNA.
5. DNA polymerase moves along each strand of
unwound DNA and adds the correct
complementary nucleotides.
5. DNA polymerase can only add new nucleotides to an

existing strand of DNA.
6. Therefore, primase adds a small fragment of RNA (an
RNA primer) to the initially separated DNA.
7. The RNA primer is complementary to the DNA, and
this is later replaced with DNA.
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8.2 DNA Replication
8.2 DNA Replication
8. Since the two DNA strands are antiparallel, one

strand is oriented as 5 to 3, and the other strand is
oriented 3 to 5.
9. Polymerase can only add new nucleotides to the 3
end of the new DNA strand; this is called the leading
strand.
10. The opposite strand is called the lagging strand.
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8.2 DNA Replication
11. The lagging strand must be replicated in

discontinuous segments called Okazaki fragments.
12. Each segment of the lagging strand must begin with
an RNA primer, then polymerase can add nucleotides
in the 5 to 3 direction. (This is the direction of the
new strand being formed.)
13. Then each RNA primer is removed and replaced
with DNA.
14. DNA ligase is the enzyme that covalently links the
new segments of DNA after the RNA primer is
removed forms phosphodiester bonds.
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8.2 DNA Replication
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8.3 DNA Mutations
8.3 DNA Mutations
Because so much DNA is being replicated in the

many cells of the body, there is potential for errors
to occur,
We have about 130 genes that code for DNA repair
enzymes
Repair enzymes, as well as polymerase itself,
compare the new DNA strand with the original DNA
strand and fix any incorrect nucleotides.
This is called proofreading.
Proofreading is still not perfect and mistakes can
occur DNA mutations.
What happens if there are mutations?
How do our cells deal with mutations?

Proofreading
Repair enzymes
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What if mutations still occur?

Apoptosis (programed cell death)
Immune cells that kill cancer cells
What if mutations still occur?
Disease
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8.3 DNA Mutations
8.3 DNA Mutations
There are two general ways to alter the genetic

message encoded in DNA.
Point mutations
These result from errors in replication.
They can involve substitutions, additions, or
deletions of nucleotides.
Recombination mutations
These cause change in the position of all or part
of a gene.
Approximately one in every 100 000 to 1 million

base pairs will be a mismatch (substitution) during
replication.
Generally, a mismatch causes polymerase to pause,
and then the incorrect base pair enters the
exonuclease section of the polymerase enzyme;
this is proofreading.
Then the error can be removed, and the correct
nucleotides replace the mistake.
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8.3 DNA Mutations
8.3 DNA Mutations
As well as polymerase, repair enzymes can also

correct DNA mutations.
What are the consequences of DNA mutations
in a population of organisms?
in that specific organism?
What do you call a substance that mutates DNA?
Mutagen
What do you call a substance that mutates DNA
and also causes cancer?
Carcinogen
Mutations can alter the genetic message and affect

protein synthesis.
Most mutations occur randomly in a cells DNA, so
most mutations are detrimental.
In what cell types can DNA mutations occur?
Mutations in germ cells
These mutations will be passed to future
generations.
They are important for evolutionary change.
Mutations in somatic cells
These are not passed to future generations but
are passed to all other somatic cells derived
from them.
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8.3 DNA Mutations
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8.3 DNA Mutations
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There are different types of DNA mutations.

1. Substitution (mismatch) changes the identity of a
base or bases.
2. Insertion adds a base or bases.
3. Deletion removes a base of bases.
What would be the consequence of a deletion or

addition?
A frame-shift mutation results.
These are extremely detrimental because the final
protein intended by the message may be altered
dramatically, or it may not be made at all.
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8.3 DNA Mutations
8.3 DNA Mutations Transposition
THE CAT SAW THE DOG

Substitution
Transposable elements (TEs) are sequences of DNA

that can move or transpose themselves within a
cell.
The mechanism of transposition can be either
"copy and paste" or "cut and paste."
All living organisms contain transposable elements
(also called transposons, or jumping genes).
TEs play a significant role in phenotypic variation
and evolution, but they can be detrimental to an
organism.
THE BAT SAW THE DOG
Insertion
THE CRA TSA WTH EDO G
Deletion
THE ATS AWT HED OG
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8.3 DNA Mutations Transposition
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8.3 DNA Mutations
If a mutagen causes the sugar-phosphate backbone

to break, the cell will try to repair this by adding the
DNA fragment to another piece of DNA.
This can cause segments of DNA to be moved to
entirely different chromosomes.
If this occurred in germ cells, how would this affect
crossing over during meiosis?
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8.3 DNA Mutations Introns and

Exons
8.3 DNA Mutations
Exons are the sequences in a gene that code for the

mRNA that will code for the protein.
Introns are removed and do not become part of the
RNA sequence.
Mutations in introns usually have no affect on the
protein silent mutations.
Also, some mutations occur in a base that does not
affect the protein sequence. (*This will be
discussed later in more detail.)
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8.3 DNA Mutations Genetic

Diseases
8.3 DNA Mutations
Cystic fibrosis one mismatch base in the gene that codes

for chloride channels
Huntingtons disease insertion of multiple CAG repeats
in a gene on chromosome 4
Sickle cell anemia one mismatch in the hemoglobin gene
Cancer usually two or more mutations in genes that
code for repair enzymes, or genes that affect the cell
cycle. What are these called?
Oncogenes and tumour-suppressor genes
Natural killer cells can

kill cancer cells.
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8.3 DNA Mutations Genetic

Diseases
How do we acquire DNA mutations?
Phenylketonuria (PKU) point mutation in liver

enzyme gene, which causes brain damage. Babies
are tested at birth for presence of enzyme that
breaks down phenylalanine into tyrosine (amino
acids).
Nonpolyposis colorectal cancer autosomal
dominant, repeated CA mutation in DNA repair
enzyme gene, a non-functional repair protein
1. Mistakes during DNA replication

2. Transposition
3. Inherited mutations (approximately 10% of
diseases are from inherited mutations)
4. Mutagens and carcinogens (most common
cause)
5. Viruses
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8.3 DNA Mutations Mutagens
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8.3 DNA Mutations Mutagens
Radiation
UV light. This is the most common cause of skin
cancers.
X-rays. Gamma radiation used for taking x-rays can
cause multiple types of cancers.
Chemicals
Pesticides and herbicides
Industrial chemicals
Pollution, including cigarette smoke
Food additives and preservatives
Drugs
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Viruses
Human papilloma virus (HPV) genital warts
that can cause cervical cancer
Human immunodeficiency virus (HIV) AIDS,
which can cause Kaposi sarcoma, and
overgrowth of blood vessels.
Hepatitis B or C liver infection that can cause
liver cancer.
Epstein Barr Virus (EBV) mononucleosis, which
can cause lymphoma (rare)
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Summary
Summary
Central dogma: DNA RNA Protein

DNA is a double helix with two strands that are
antiparallel purines bind with pyrimidines.
Telomeres are end repeat sequences of DNA that
shorten each time DNA replicates; telomerase
prevents shortening in specific cell types.
DNA replicates by semi-conservative replication.
Enzymes involved in replication include helicase,
primase, single-strand binding protein, polymerase,
and ligase.
The leading strand replicates continuously, and the

lagging strand replicates using Okazaki fragments.
Polymerase adds nucleotides to the 3 end of a preexisting nucleotide (5 to 3 direction on the new
strand).
Point mutations include substitutions, insertions, or
deletions.
Insertions and deletions cause frameshifts.
Transposition mutations involve large sequences of
DNA.
Most DNA mutations are detrimental.
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Summary
Summary
Polymerase has proofreading ability and can fix

many mutations that occur during replication.
Mutagens are substances that mutate DNA, and
carcinogens are substances that cause mutations
that cause cancer.
Mutations can be inherited, can occur during
replication, and can be caused by mutagens or
viruses.
Mutations can be fixed by polymerase and DNA
repair enzymes. We also have immune cells that
kill mutated cells and some mutated cells will kill
themselves by apoptosis
Some inherited gene mutations that cause disease

in humans include cystic fibrosis, Huntingtons,
sickle-cell anemia, PKU, and nonpolyposis
colorectal cancer.
Viruses that can cause cancer include HPV, HIV,
hepatitis B or C, and EBV.
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Unit 1-DNA-stucture & Function-C08 Roscoe 1e

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9/10/2015

The Central Dogma

DNA Structure and Function

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure

Nucleic acids are very long polymers that are made

What do DNA and RNA stand for?

What are the five nucleotides?

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure

The structure of DNA is a double helix.

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

Nucleotides differ in regard to their bases.

8.1 DNA Structure

8.1 DNA Structure

Purines adenine and guanine (double-ring

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure

Rosalind Franklins work in 1953 using

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure Nucleosides

8.1 DNA Structure Telomeres

Our diet is the source of nucleosides in our cells

A telomere is a region of repetitive DNA at the end

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.1 DNA Structure

8.1 DNA Structure Telomeres

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

The average length of a single chromosome is 2

The two strands of DNA that form the double helix

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

8.2 DNA Replication

1. Replication begins at a point of origin; in

5. DNA polymerase can only add new nucleotides to an

Copyright 2016 by Nelson Education Ltd.

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

8.2 DNA Replication

8. Since the two DNA strands are antiparallel, one

Copyright 2016 by Nelson Education Ltd.

8.2 DNA Replication

Copyright 2016 by Nelson Education Ltd.