Sources of Variation: Genetics Review Mutation Recombination

1. Sources of Variation: Genetics Review Mutation Recombination

2. DNA, RNA, and Proteins • A. Proteins • 1. Amino Acids

4. DNA, RNA, and Proteins • A. Proteins • 1. Amino Acids • 2. Polymerization

6. DNA, RNA, and Proteins • A. Proteins • 1. Amino Acids • 2. Polymerization • 3. Levels of Structure

8. DNA, RNA, and Proteins • A. Proteins • 1. Amino Acids • 2. Polymerization • 3. Levels of Structure • 4. Functions

9. Structural - actin (cytoskeleton, muscle) - elastin - collagen • Enzymatic • Trypsin • Salivary amylase • DNA polymerase II • Responsible for making all other types of biomolecules • Transport • Protein channels in membranes • Hemoglobin Immunity - Antibodies Communication - Hormones (insulin) Regulatory - Transcription Factors

10. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides

12. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides • 2. Polymerization

13. 5’ 3’

14. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides • 2. Polymerization • 3. Double Helix and Genes

15. Antiparallel Complementary Purine Pyrimidine

16. “Split-gene” structure of eukaryotic genes

17. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides • 2. Polymerization • 3. Double Helix • 4. Eukaryotic Chromosome

18. 1.2 % of human genome codes for proteins

20. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides • 2. Polymerization • 3. Double Helix • 4. Eukaryotic Chromosome • 5. Chromosomes, sister chromatids, homologous chromosomes

21. A a A A a a

22. DNA, RNA, and Proteins • B. DNA • 1. Nucleotides • 2. Polymerization • 3. Double Helix • 4. Eukaryotic Chromosome • 5. Chromosomes, sister chromatids, homologous chromosomes • 6. Genomes

24. Ophioglossumvulgarum 1024 chromosomes

25. DNA, RNA, and Proteins • C. RNA • 1. Nucleotides – 2 diff’s with DNA

26. DNA, RNA, and Proteins • C. RNA • 1. Nucleotides

27. DNA, RNA, and Proteins • C. RNA • 1. Nucleotides – 2 diff’s with DNA • 2. Types and Functions

28. TRANSCRIPTION

31. DNA, RNA, and Proteins • D. Gene Regulation

32. Regulation of Transcription TATA Binding Proteins bind to Promoter – enhance binding of Polymerase Activators (transc. factors) bind to enhancers – increase expression Repressors – bind to silencers, activators, promoters and decrease expression

33. Regulation of RNA Processing

34. Regulation of Translation Micro-RNA’s block translation of other m-RNA’s… turns gene expression ‘off’

35. DNA, RNA, and Proteins • II. Mutation: A change in the genome of a cell • A. Types:

36. Loss or gain of a chromosome

37. DNA, RNA, and Proteins • II. Mutation: A change in the genome of a cell • A. Types: • B. Effects

38. Can affect the timing of gene action, the quantity of protein product, and/or the type of protein produced…. or not!

39. DNA, RNA, and Proteins • II. Mutation: A change in the genome of a cell • A. Types: • B. Effects • C. Frequency

40. Point mutations are rare (1/million cell divisions), but with 6 billion base pairs in the human genome, they are actually abundant. But mutations that affect whole chromosomes, while very rare, affect more base pairs when they happen.

41. DNA, RNA, and Proteins • II. Mutation: A change in the genome of a cell • A. Types: • B. Effects: • C. Somatic vs. Germ Line • Somatic affect body tissues (like cancers) • Germ Line (affect egg or sperm) - heritable

42. DNA, RNA, and Proteins • II. Mutation: A change in the genome of a cell • A. Types: • B. Effects: • C. Somatic vs. Germ Line • D. Causes

43. Point Mutations, Insertions, Deletions: DNA Replication Errors

44. Gene Duplication and Inversions: Error in Crossing-Over: Unequal crossing over leads to gene duplication and deletion A B a b

45. Gene Duplication and Inversions: Error in Crossing-Over: A B a b

46. Gene Duplication and Inversions: Error in Crossing-Over: B A a b

47. i. Unequal Crossing-Over a. process: b. effects: - can be bad: deletions are usually bad – reveal deleterious recessives additions can be bad – change protein concentration

48. i. Unequal Crossing-Over a. process: b. effects: - can be bad: deletions are usually bad – reveal deleterious recessives additions can be bad – change protein concentration - can be good: more of a single protein could be advantageous (r-RNA genes, melanin genes, etc.)

49. i. Unequal Crossing-Over a. process: b. effects: - can be bad: deletions are usually bad – reveal deleterious recessives additions can be bad – change protein concentration - can be good: more of a single protein could be advantageous (r-RNA genes, melanin genes, etc.) source of evolutionary novelty (Ohno hypothesis - 1970) where do new genes (new genetic information) come from?

50. Gene A Duplicated A generations Mutation – may even render the protein non-functional But this organism is not selected against, relative to others in the population that lack the duplication, because it still has the original, functional, gene.