1. XKCD.com Exam #1 in class (bring cheat sheet) Take-home portion due at start of in class exam. Proposals at end of class

2. There are 2 explanations for why so little of your DNA directly codes for proteins... CB 19.14

3. a gene Genes have three basic parts promotercoding regionterminatornon-gene DNA The promoter marks where the gene begins AND when the gene is expressed

4. Development: differentiating cells to become an organism

5. Cells function differently because they express different genes.

6. Increases in cell number play a role…

7. Development in animals is one way. Why?

8. Totipotent: ability to differentiate into any cell-type

9. Totipotency is limited to early stages of animal development CB 20.17

10. Mature, differentiated plant cells are totipotent CB 20.16

11. What genetic mechanisms regulate development?

12. CB 16.21 Unused DNA is tightly packaged...

13. CB 16.21 Unused DNA is tightly packaged... in animals this packaging is irreversible.

14. All humans are female for the first nine weeks of development

15. CB 13.3

16. All humans are female for the first nine weeks of development

17. What genetic mechanisms regulate development? Gene Expresssion and Irreversible DNA Packaging

18. A totipotent cell can differentiate into any type of cell. CB 20.17

19. Use of stem cells shows promise to cure various diseases by replacing damaged cells

20. Embryonic Stem Cells are totipotent Adult Stem Cells are pluripotent (only form some cell types) CB 20.17

21. Use of embryonic stem cells has generated controversy… Why?

23. What is life? When does it begin?

24. Fertilization and cell division without implantation is common

25. Use of embryonic stem cells has generated controversy… Why?

26. Five Perspectives about Genes: 1.Genes act as units of heredity 2.Genes are seen as a cause of disease 3.Genes code for proteins 4.Genes act as switches, controlling development 5.Genes are replicators (selfish gene)

27. Genes are replicators (selfish gene) CB 21.7

28. Only a small percent of DNA codes for proteins CB 21.7

29. CB 19.4 Viruses infect living cells, take over, and produce more virus.

30. Bodies are vessels for the transmission of genes

31. Transposons CB 21.8

32. Genes are replicators (selfish gene) Transposons: mobile DNA CB 21.9

33. Barbara McClintock, discoverer of transposons CB 21.8

34. Genes are replicators (selfish gene) Transposons: mobile DNA CB 21.9

35. Transposons comprise much of human DNA

36. Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E. Mills et al. The American Journal of Human Genetics 78: 671-679 and Which transposable elements are active in the human genome? (2007) Ryan E. Mills et al. Trends in Genetics 23: 183- 191

37. Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E. Mills et al. The American Journal of Human Genetics 78: 671-679

38. Humans and chimpanzees shared a common ancestor about 6 million years ago

39. human chimp Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E. Mills et al. The American Journal of Human Genetics 78: 671-679 Humans have more transposons than chimps

40. Conclusions: Transposons may play a role in evolution More abundant transposons in humans show “recent” transposon activity

41. Conclusions: Transposons may play a role in evolution More abundant transposons in humans show “recent” transposon activity What affect do transposons have in humans?

42. Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E. Mills et al. The American Journal of Human Genetics 78: 671-679

43. Tbl 1 Which transposable elements are active in the human genome? (2007) Ryan E. Mills et al. Trends in Genetics 23: 183-191 Does transposition cause disease?

44. An active copy of the L1 transposon ‘jumped’ into the factor VIII gene and caused hemophilia

45. Diseases caused by transposon insertion: Duchenne muscular dystrophy Coffin-Lowry syndrome Fukuyama-type congenital muscular dystrophy (FCMD) colon cancer chronic granulomatous disease X-linked dilated cardiomyopathy familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism neurofibromatosis type 1

46. Active human transposons have been estimated to generate about one new insertion per 10–100 live births Which transposons are mobile?

47. Conclusions: Transposons may play a role in evolution More abundant transposons in humans show “recent” transposon activity Transposons are still active, and can cause mutations and disease.

48. XKCD.com Exam #1 in class (bring cheat sheet) Take-home portion due at start of in class exam. Proposals due now