1. Brief Introduction to Biology and Genetics Ryan McConnell STAT 499 September 17, 2004

2. All information can be found at: http://www.ncbi.nlm.nih.gov/About/primer/genetics.html http://www.accessexcellence.org/RC/VL/GG/ (pictures)

3. Cells – Fundamental Units of Life Take in nutrients Convert nutrients into energy Reproduce Information storage (DNA) 100,000,000,000,000 cells in humans

4. Cell Organization 10 times larger Organelles Organizational complexity Unicellular Lack nucleus Bacteria

5. Macromolecules in Cells Cells are primarily filled with water

6. Basic Cell Structures Plasma Membrane – comprised of proteins and lipids, separates internal and external environments Cytoplasm – the cell’s fluid-filled inner space Nucleus – contains genetic material Mitochondria – perform respiration to generate energy, replicate independently, contain their own DNA Ribosomes – site of protein synthesis, attached to ER or free-floating

7. Deoxyribonucleic Acid - DNA Double helix, 4 nitrogenous bases

8. Ribonucleic Acid - RNA RNA is single-stranded Uracil replaces Thymine Many kinds of RNA: –Messenger RNA (mRNA) –Transfer RNA (tRNA) –Ribosomal RNA (rRNA)

10. DNA Replication is Semiconservative

11. Transcription (making a portable copy) DNA mRNA

12. Translation – portable copy directs protein synthesis mRNAprotein

13. Ribosomes – physical site of protein synthesis

14. Mechanism of Translation

15. Proteins – The Final Product

16. What’s in a Genome?

17. DNA Packaging DNA from a single human cell is over 1 meter long when stretched out How does it fit in a cell? –Several layers of packaging result in structures called chromosomes

18. Chromosomes

19. What is a Gene? Humans are predicted to have up to 30,000 genes

20. Terminology You’re Likely to Encounter Locus – The position at which a gene is located on a chromosome Alleles – Different versions of a gene at the same locus ex. Locus for pea plant size has either “tall” allele or “short” allele Mitochondrial Genes – mitochondria have their own DNA separate from the nucleus endosymbiont theory, maternal inheritance (sperm lack mitochondria) Genome – the full set of chromosomes and DNA contained within an organism (organism-specific)

21. Control of Gene Expression Regulation can occur at any of the multiple steps from DNA protein Every cell contains the complete genome Kidney cells have all of the genes expressed in heart cells, etc.

22. Control of Gene Expression, Cont. Regulatory proteins bind to control regions in the DNA this regulates the rate of transcription to mRNA

23. Mechanisms of Genetic Variation Why are we all different? Phenotype – Traits that are expressed Genotype – Genetic composition underlying the phenotype Recombination – a.k.a. “crossing over” Mutations Environment ≠

24. Meiosis – Production of Gametes

25. Recombination During Meiosis

26. Overview of Mutations

27. Inheritance of Genes

28. Molecular Genetics The Study of Heredity, Genes, and DNA

29. Obtaining DNA

30. Isolating mRNA

31. DNA Hybridization

32. FISH

33. Microarrays – This is Us! For a great demo, check out: http://www.bio.davidson.edu/courses/genomics/chip/chip.html

34. Building a Genomic Library

35. All graphics appear courtesy of the following websites: http://www.accessexcellence.org/ http://www.ncbi.nlm.nih.gov/About/primer/genetics.html

36. Questions?