3. It’s all in the DNA
• Genetic material found in
every living cell
• Contains information to
make proteins
4. 1. DNA Structure & function
• Polymer made of 4 nucleotides : A, C, T, G
• polynucleotide eg. A-G-T-C-C-A-A-G-C-T-T….
• DNA is double stranded - Double-helix
• Complementary base pairing
• Anti-parallel
5. Nucleotides – the building blocks
of DNA
Nucleotide = Sugar + base + phosphate
Nucleoside = Sugar + base
Deoxyribose sugar 5 carbons
Phosphate (PO4) group at carbon no. 5
Hydroxyl (OH) group at carbon no. 3
www.mun.ca/biology/ scarr/Fg10_10rt.gif
10. Fig. 16-7
5 end
Hydrogen bond
3 end
1 nm
3.4 nm
3 end
0.34 nm
(a) Key features of DNA structure (b) Partial chemical structure
5 end
(c) Space-filling model
11. How one nucleotide can be joined to another through the 5’-PO4
(5 prime phosphate) and the 3’-OH (3 prime hydroxyl)
12. Many nucleotides can be joined in such a way to form a
polynucleotide chain a single stranded DNA
13. The Double Helix
The complete DNA molecule is made up of two complementary strands in
antiparallel directions
http://physicsweb.org/objects/world/16/3/7/pwhux4_03-03.jpg
14. 5’
3’
3’
5’
Complementary base-pairing
• A always pair with T
• C pairs with G
Antiparallel
• each strand of DNA has a “direction”
• at one end, the terminal carbon atom in
the backbone is the 5‟ carbon atom
• at the other end, the terminal carbon
atom is the 3‟ carbon atom
• therefore each DNA strand has a 5’ and a
3’ end
• in a double helix, the two strands are
always antiparallel
The length (or size) of a DNA molecule
is measured in basepairs (bp)
1 kilobase (kb) = 1,000 bp
1 Megabase (Mb) = 1,000,000 bp
15. Chromosomes and DNA
DNA is packaged in the
form of chromosomes in
the nucleus of a cell.
The chromosomes contain
DNA tightly wounded
around proteins.
16. 2. Genes and genomes
The Genome - complete set of DNA for an organism
A comparison of genomes
Organism
Amount of
DNA
No of
Chromosomes
No of genes
3 Gb
46
100,000
Yeast
13 Mb
16
6,000
E.coli
4.5 kb
1
1,000
Human
17. A Gene
• a specific DNA sequence that
contains genetic information
• information required to make a
specific type of protein
• that information is stored in the
sequence on the „sense‟ strand
• we say that a gene encodes a
protein
• thus a DNA molecule can contain
many genes
• the gene sequence is always
written 5‟ 3‟
5’ATGCTTGGACGTGATGACATTGGAGGA...
3’TACGAACCTGCACTACTGTAACCTCCT...
‘sense’
‘antisense’
18. 3. The Genetic Code and mutation
– how the DNA (or mRNA) sequence is translated into
the amino acid sequence of a protein
19. Reading frames
• There are 3 ways to read a gene sequence – reading frames
• Each reading frame will give a different result
• Only one reading frame is correct (usually)
20. Gene mutation
• Information coded in the DNA sequence is used to make proteins
• If the DNA sequence is changed, what will happen?
• A change in the genetic information is called a mutation. The outcome
depends on the nature of the „change‟.
• 3 types of DNA sequence mutations
21. Substitution mutations
-change of 1 base
-AAC ATA ACG CCG CGA GAT GAA –
Asn
Ile
Thr
Pro
Arg
Asp Glu
a. Silent mutation
- AAC ATC ACG CCG CGA GAT GAA –
b. Missense mutation
- AAC ATA AAG CCG CGA GAT GAA –
c. Nonsense mutation
- AAC ATA ACG CCG TGA GAT GAA –
What happens to
the amino acid
sequence?
What happens to
the protein?
23. Mutation can also happen due to
-changes in long DNA sequences
-changes in the structure of genes/ chromosomes
-changes in the number of genes/ chromosomes
-e.g. Mutations leading to cystic fibrosis
25. Denaturation – breaking up of the double helix molecule
•
•
•
•
•
hydrogen bonds broken
by heating to > 96oC (and also other conditions)
Tm = the melting point of a DNA molecule
depends on the GC content
higher %GC higher Tm
Renaturation - if the denatured DNA strands are allowed to
cool slowly
• the can re-anneal with each other and regain the double
helix structure
• reannealing by complementary base-pairing
26. 5. Comparative genomics
• Comparison of whole genome sequences
provides a highly detailed view of how
organisms are related to each other at the
genetic level. How are genomes compared
and what can these findings tell us about
how the overall structure of genes and
genomes have evolved?
• Purpose / benefits?