1. Genomics and Inheritance

2. What is DNA?

3. What is DNA Day?

4. April 1953 Drs. James Watson and Francis Crick determined the structure of DNA (double helix)

5. April 2003 Human Genome Project determined the entire DNA sequence of a human (3 billion letters) What is DNA Day? April 1953 Drs. James Watson and Francis Crick determined the structure of DNA (double helix)

6. A Genome is an entire set of an organism’s DNA J Craig Venter Institute The Human Genome 23 pairs of chromosomes

7. A Genome is an entire set of an organism’s DNA J Craig Venter Institute The Human Genome Mother Father 23 pairs of chromosomes One from your mother, one from your father

8. A Genome is an entire set of an organism’s DNA J Craig Venter Institute The Human Genome Cell

9. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides

10. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A Adenine

11. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T Adenine Thymine

12. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T C Adenine Thymine Cytosine

13. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism DNA is composed of a combination of 4 nucleotides A T C G Adenine Thymine CytosineGuanine

14. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism A pairs with T C pairs with G Adenine Thymine Cytosine Guanine

15. DNA holds instructions for the cell DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism A pairs with T C pairs with G Which is how DNA forms a double helix. Adenine Thymine Cytosine Guanine Base Pair

16. A T C G NucleotidesLetters The genome is like a cookbook for the cell

17. A T C G NucleotidesLetters A sequence of nucleotides composes a gene. GeneRecipe The genome is like a cookbook for the cell

18. A T C G NucleotidesLetters A sequence of nucleotides composes a gene. GeneRecipe Billions of nucleotides are packaged into chromosomes. GenomeCookbook The genome is like a cookbook for the cell Cell Gene

19. Nucleotide Sequence

20. Refresher: What are each of these?

21. Cell Nucleotides Genes Chromosome Genome DNA

22. No two genomes are the same Individuals differ at about.1% of their nucleotides. Variant - A position in the genome where individuals have different nucleotides Broad Institute Variant

23. No two genomes are the same Individuals differ at about.1% of their nucleotides. Variant - A position in the genome where individuals have different nucleotides 3 billion nucleotides 3 million variants.1%

24. No two genomes are the same Individuals differ at about.1% of their nucleotides. Variant - A position in the genome where individuals have different nucleotides 3 billion nucleotides 3 million variants.1% …………………………….. 123 million AGCTAGCT AGCTAGCT AGCTAGCT 4 choices at 3 million places  4 3million unique genomes

25. Actually, some genomes are the same Identical twins have the same genome.

26. Actually, some genomes are the same A fertilized egg splits into two identical zygotes early on. The zygotes develop into individuals with identical genomes.

27. Actually, some genomes are the same Clones have the same genome.

28. Actually, some genomes are the same To clone an animal you need a body cell and an egg cell. Body cell Egg cell bbc.co.uk

29. Actually, some genomes are the same Replace the genome of the egg cell with that of the cell to be cloned. Body cell Egg cell Extract genome Remove genome Replace egg cell’s genome bbc.co.uk

30. Actually, some genomes are the same Place the dividing egg cell into the uterus of a foster mother. Body cell Egg cell Extract genome Remove genome Replace egg cell’s genome Place egg into foster mother Clone of sheep A bbc.co.uk

31. Your list of variants is your genotype Variants Example chromosome Maternal T A G T C A.….. ….

32. Your list of variants is your genotype Variants Example chromosome MaternalPaternal T A G T C A.….. …. C A T T A G ….

33. Your list of variants is your genotype Variants Example chromosome MaternalPaternal T A G T C A.….. …. C A T T A G …. Genotype G T T T C A C A A G Genotype – The variant nucleotides on both maternal and paternal chromosomes. Your genotype is unique. MP

34. Genomic variants result in unique individuals

35. Big genomic variations allow for many different forms of life

36. Variations in the DNA of different individuals can cause changes in physical appearance or can even cause disease.

37. Variants can result in disease …GAG……CTC……GAG……CTC… The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia.

38. Variants can result in disease …GTG……CAC……GTG……CAC… …GAG……CTC……GAG……CTC… The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia. Variant

39. Variants can result in disease …GTG……CAC……GTG……CAC… …GAG……CTC……GAG……CTC… The A variant at position 5,248,232 on chromosome 11 causes Sickle Cell Anemia. Sickle-shaped diseased red blood cell Normal red blood cell Variant Normal Disease University of Michigan

40. Variants can result in disease AAATTT Genotypes observed

41. Variants can result in disease AAATTT Genotypes observed Normal Mostly NormalSickle Cell Anemia microscopyu.com http://legacy.owensboro.kctcs.edu/ micro-scopic.tumblr.com

42. Variant correlated to disease microscopyu.com http://legacy.owensboro.kctcs.edu/ micro-scopic.tumblr.com AAATTT Genotype Sickle Cell count

43. Variant correlated to disease Genotype AAATTT Sickle Cell count

44. Variant correlated to disease AAATTT Genotype Sickle Cell count steep slope = correlation

45. Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant is not be correlated. For example: Chr11:119,553,795 C/A variant

46. Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant is not be correlated. For example: Chr11:119,553,795 C/A variant Genotype Sickle Cell count CCCAAA

47. Variant not correlated to disease The Sickle Cell A/T variant is the only variant correlated to the disease. Any other variant will not be correlated. For example: Chr11:119,553,795 C/A variant CCCAAA Genotype Sickle Cell count no slope = no correlation

48. Genome Wide Association Studies find variants correlated to disease AAATTT Genotype Disease Correlated Not Correlated CCCAAA Genotype Disease

49. Genome Wide Association Studies find variants correlated to disease 1. Pick a disease to test 2. Find individuals with and without the disease DiseaseNo Disease

50. Genome Wide Association Studies find variants correlated to disease 3. Get genotypes of the individuals 4. Test variants for their correlation to disease AAATTT Genotype Disease or CCCAAA Genotype Disease

51. ll Please PAUSE and take a moment to complete the activity

52. Every cell in your body has the same genome, except… If you are a mosaic or a chimera, some cells in your body carry a different genome.

53. Every cell in your body has the same genome, except… If you are a mosaic or a chimera, some cells in your body carry a different genome. © Garland Science

54. What do I study? Why do I love science? Questions? About the Scientist:

55. May 18, 2013 UNC Student Union Great Hall 10am-12pm Join us for the 1st annual NC DNA Day science festival to learn more about the biological and biomedical research going on in the state! Register to attend The classroom with the most attendees will win a pizza party! Science Art Contest Create a painting, drawing or 3D model that embodies biomedical sciences. Prizes will be awarded! See website for more info. ncdnaday.org/festival

56. Run to Support Science Outreach and Education in NC 9:00 AM | Saturday, May 18th 2013 Run Through UNC Chapel Hill Campus ncdnaday.org/5K