1. Announcements 1. Genetics-related course offerings for spring 2003:
- BIO 324 Cell biology, 3 credits; 3 hours in lecture
- BIO 325 Biotechnology, 3 credits; 5 hours in lab
-BIO 397 Seminar in Human gene therapy, 1 credit
-BIO 403 Undergraduate Research, 3-4 credits; needs to be arranged one semester in advance with faculty
-BIO 597Q Confocal microscopy, 4 credits
-BIO 597Y Techniques in molecular biology, 3 credits; 3 hours in lecture - no lab.
-BIO 620G Conservation Genetics, 3 credits; lecture and lab
-BIO 629B Eukaryotic Molecular Genetics seminar, 1 credit
2. Ch 10: problems 1,4,13, 15 - not to turn in

2. Restriction Digest Lab: Use This Gel!
Start measuring
from here.
Lanes
1 - Markers
2 - Uncut plasmid
3 - EcoRI cut
4 - DraI cut
5 - EcoRI + DraI
Molecular weight
markers in bp
3 real bands
2 real bands
Supercoiled form runs
faster, nicked form runs
slower than linearized
plasmid.
Bright band is cut;
faint band is uncut

3. Review of Last Lecture I. Sry and sex determination
II. Dosage compensation - different in humans and flies
III. Nondisjunction
Monosomy
Trisomy

4. Outline of Lecture 18 Polyploidy
Variation in structure/arrangement of chromosomes
- deletion
- duplication
- inversion
- translocation
III. DNA structure and analysis

5. I. Polyploidy Hybridization of closely related species; often sterile.
Additional sets identical to parents.

6. How does polyploidy arise naturally
How does polyploidy arise naturally? - DNA is duplicated in S phase but cell doesn’t go into M phase - Generation of Tetraploids Using Colchicine, a Microtubule Inhibitor
Triploids can be created by inhibition of polar body
formation during oogenesis, followed by fertilization.

7. How is polyploidy relevant to our daily lives?
Polyploids are generally bigger than diploids;
therefore, in horticulture and agriculture they are useful.
Examples: -Bananas and tiger lilly - 3n
-coffee, peanuts, McIntosh apples - 4n
-strawberry - 8n

8. Somatic Cell Hybridization in Plants creates Allopolyploid Hybrids American Cotton is natural hybrid

9. II. Types of Chromosomal Rearrangements, Caused by Breakage and Rejoining

10. Deletions Chromsome breaks Part is lost - a deletion
Synapsis with a chromosome
with a large intercalary deletion - loop formation.

11. Duplications Cytology showed that bar is not due to a gene mutation.
Gene redundancy
Phenotypic variation
Source of genetic variation during evolution
Unequal crossing over

12. Ohno’s hypothesis on the role of gene duplication in evolution
Question: How do “new” genes arise?
Duplications might allow for major mutation in the extra copy of the gene. Over time, mutations could result in a new function for the duplicated gene - essentially a new gene.
Example: myoglobin and hemoglobin

13. Inversions
Inversions don’t add or delete genetic info, but can have effects on gamete formation.

14. Translocations Robertsonian translocation: most common type in humans
One example:
SRY in an XX “male”

15. Inheritance of 14/21 Translocation In Families with Down Syndrome

16. Familial Down Syndrome Patient
with 14/21 Translocation
/21 14

17. Learning check
What types of chromosome mutations are required to change this chromosome into each of the following?
A B  C D E F G
A B A B  C D E F G
a. inversion of A B
b. deletion of A B
c. duplication of A B
A B  E D C F G
a. translocation of C D E
b. inversion of C D E
c. deletion of C D E O O

18. Learning check #2
A species has 2n = 16 chromosomes. How many chromosomes will be found per cell in each of the following mutants in this species?
Monosomic
Autotriploid
Trisomic
Autotetraploid 15 24 17 32

19. III. DNA Structure and analysis
What is the genetic material?
Chromosomes contain protein and DNA - which is it?
What must genetic material do?
1. Replication
2. Storage of information
3. Expression of information
4. Variation by mutation - evolution

20. The Flow of Genetic Information (The Central Dogma)
Trait

21. Is the Genetic Material Protein or DNA?
Many favored proteins until the mid-1940’s.
DNA is simple chemically; how could it then hold complex genetic information?
Proteins are much more complicated chemically; perhaps they might hold genetic information.

22. Evidence for DNA as Hereditary Molecule
Transformation studies
Griffith (1927)
Avery, MacLeod and McCarty (1944)
Hershey-Chase experiment (1952)
Chargaff’s Rules
Molecular Studies

23. Griffith’s Transformation Expt.
Bacteria Used
Living smooth
(virulent)
Living rough
(avirulent)
Killed smooth
Living rough +
killed smooth
Conclusion:
Killed smooth converted
living rough to virulent cells - a
Transforming Principle (some smooth component) is responsible.

24. Avery, MacLeod, and McCarty Expt: DNA is the “Transforming Principle”

25. Hershey-Chase Experiment
Radioactively labeled DNA and protein:
32P atom is in phosphate molecules in DNA and RNA, only low levels in protein (phosphorylated proteins).
35S atom is in sulfur containing-amino acids (cysteine and methionine), not in DNA, RNA.

26. Phage Made Radioactive
Non-radioactive medium
+ bacteria

27. Phage Infect Cells
32P Phage
35S Phage

28. RNA is the Hereditary Material in RNA Viruses, e.g. TMV
Tobacco Mosaic Virus

29. Reconstitution of Hybrid TMV (Fraenkel-Conrat & Singer)
Strain 1
Strain 2
Hybrid most like TMV, not HR,
therefore RNA is genetic mat’l

30. Bases and Sugars
pyrimidines
purines
Ribose
sugars

31. Bases and Sugars in DNA and RNA
In DNA: deoxyribose + A, T, G or C
dA deoxyadenosine
dT deoxythymidine
dG deoxyguanosine
dC deoxycytidine
In RNA: ribose + A, U, G, or C
A adenosine
U uridine
G guanosine
C cytidine

32. Nucleoside = Base + Sugar Nucleotide = Nucleoside + Phosphate
dAMP

33. dNDP’s and dNTP’s: Note Errors in the Text
deoxy
deoxy
deoxy
deoxy
dNDP (dTDP)
dNTP (dATP)

34. 3’ to 5’ Phosphodiester Bonds Make the Sugar-Phosphate Backbone
New Monomers
Add Here
Strand has 5’-PO4
end and 3’-OH end

35. Chargaff’s Rules
, quantified amounts of each base in DNA from different species.
In every species, amount of A = Amount of T, and Amount of G = Amount of C
If that’s true, then A + G = C + T
The % GC and % AT varied from species to species, but always adds up to 100%.