Figure 4'1

1
(No Transcript)
2
Figure 4.1
Components of DNA
3
Structure of Single-Stranded DNA
Figure 4.2
4
Figure 4.3
Ribbon Model Of Double-Helical DNA
5
Figure 4.4
Double-Stranded DNA
6
5 TAGGCAT 3 3 ATCCGTA 5
7
Figure 4.5
DNA Replication
8
Figure 4.6
Structure of an Amino Acid and Peptide Bond
9
Table 4.1
10
Figure 4.7
Secondary Structure Of RNA
11
(No Transcript)
12
Figure 4.8
Transcription
13
RNA Splicing
Figure 4.9
14
30 (to 75) of human genes are alternately
spliced
Alternate Splicing of RNA
Figure 4.10
15
Intron Splicing Animation
http//vcell.ndsu.nodak.edu/animations/mrnasplicin
g/movie.htm
16
(No Transcript)
17
Figure 4.11
Charged tRNA
18
UL Department of Family and Geriatric
Medicine   The Ethics and Politics of Stem Cell
Research in the US   Arthur Caplan,
Ph.D. Professor and Director, The Center for
Bioethics, University of Pennsylvania   Professor
Caplan is the author or editor of 25 books and
over 500 papers. He writes a regular column on
bioethics for MSNBC.com and is a frequent guest
and commentator on National Public Radio, CNN,
MSNBC, the New York Times, the Washington Post
etc.   Monday, January 23, 2006, 1215 PM to 145
PM Medical School Auditorium Library and Commons
Building, HSC Campus   Lunch provided for those
who make reservations by January 20, 2006 FOR
RESERVATIONS e-mail j0frye01_at_gwise.louisville.edu
19
Figure 4.12
Initiation (Translation)
20
Figure 4.13
Elongation (Translation)
21
Figure 4.14
Termination (Translation)
22
Table 4.2
23
Table 4.2
24
Figure 4.2 continued
25
(No Transcript)
26
Promoter and Initiator
Figure 4.15
27
Figure 4.16
RNA Polymerase II- Transcription Initiation
Complex
28
(No Transcript)
29
http//vcell.ndsu.nodak.edu/animations/transcripti
on/movie.htm
30
(No Transcript)
31
Mutations
32
Purine
A G R I C U L T U R E
C I T Y
Pyrimidine
33
Transition Mutation vs. Transversion Mutation
34
Silent Neutral
Missense Nonsense
Consequences of Substitutions
Figure 4.17
35
Table 4.2
36
Sickle Cell Anemia is caused by a substitution
(Missense Mutation)
37
Figure 4.18
Protein Truncation
38
BRCA1 (Breast Cancer) is due to a truncated
protein. Women with This mutation are 80 more
likely to have this disease. The protein is
involved in regulation of the cell cycle.
39
Frameshift Mutation
Figure 4.19
40
This occurs to one of the genes thought to play a
role in Familial Alzheimers Disease
41
Mutations in the 3 Splice Sites
Figure 4.20
42
Mutations in the 5 Splice Sites
Figure 4.20
43
3 Splice Site within an Intron
Figure 4.21
44
(No Transcript)
45
It is estimated that 10 of human genetic
diseases are caused by splicing mutations.e.g.
blindness, deafness, muscular dysfunction,
ability to detoxify medicines.
46
M Y R R H L A
L A L A L A L A L
A L A P A H
G C C D C N A A A
D D E D C N G
G E E F E D C A G
G A D N C
The transcription start-site (GTT) is different
than the translation start-site (ATG)
47
For instance, a gene that is expressed in the
liver (called CYP2D6) functions at a low level in
about 10 of the U.S. population, because of a
mutation affecting how its mRNA got
spliced. This enzyme breaks down about 25 of
all medicines. It appears that some people
cannot take the drug Debrisoquine (which is used
to treat high blood-pressure) because they lack
the inability to breakdown that drug because of
faulty splicing of the CYP2D6 gene.
48
Dominant Negative-Mutation
Figure 4.22
49
Example of a Dominant-Negative Mutation
50
An example of a Gain of Function mutation The
Ras gene is normally involved in regulating when
mitosis occurs in animals. It is normally not
transcriptionally active, except at specific
times. One Dominant mutation of Ras causes it
to be transcribed constitutively (continually at
a basal rate). The result is cancer.
51
An example of a Loss of Function
mutation Incomplete Dominance
52
(No Transcript)