1. Human Genetics Concepts and Applications Tenth Edition RICKI LEWIS Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display PowerPoint ® Lecture Outlines Prepared by Johnny El-Rady, University of South Florida 2 Cells

2. 2 Introducing Cells Cellular activities and abnormalities underlie our inherited traits, quirks, and illnesses Understanding genetic diseases can suggest ways to treat the condition Lack of dystrophin Figure 2.1

3. 3 Introducing Cells Our bodies include more than 260 cell types Somatic (body) cells have two copies of the genome and are said to be diploid Sperm and egg cells have one copy of the genome and are haploid Stem cells can both replicate themselves and give rise to differentiated cells

4. 4 Types of Cells All cells can be divided into two main types Prokaryotic cells - Lack a nucleus Eukaryotic cells - Possess a nucleus and other organelles Figure 2.2

5. 5 Domains of Life Biologists recognize three broad categories of organisms Archaea – Unicellular prokaryotes Bacteria – Unicellular prokaryotes Eukarya – Includes both unicellular and multicellular eukaryotes

6. 6 Chemical Constituents Cells contain four types of macromolecules TypeExamplesFunctions CarbohydratesSugars, starchesEnergy, structure LipidsFats, oilsMembranes, hormones ProteinsMyosin, collagenEnzymes, structure Nucleic AcidsDNA, RNAGenetic information

7. 7 Figure 2.3 An Animal Cell Surrounded by the plasma membrane Contains: - Cytoplasm - Organelles - Divide labor by partitioning certain areas or serving specific functions

8. 8 An Animal Cell Figure 2.3

9. 9 The Nucleus The largest structure in a cell Surrounded by a double-layered nuclear envelope Contains: - Nuclear pores that allow movement of some molecules in and out - Nucleolus, which is the site of ribosome production - Chromosomes composed of DNA and proteins

10. 10 Figure 2.3 Figure 2.4 The Nucleus Figure 2.4

11. 11 Secretion illustrates how organelles function together to coordinate the basic functions of life Figure 2.5

12. 12 Figure 2.3 Endoplasmic Reticulum (ER) Interconnected membranous tubules & sacs Winds from the nuclear envelope to the plasma membrane Rough ER contains ribosomes and is involved in protein synthesis Smooth ER does not contain ribosomes and is important in lipid synthesis

13. 13 Figure 2.3 Golgi Apparatus Stack of flat membrane-enclosed sacs Processing center that adds sugars forming glycoproteins and glycolipids Site of final protein folding Products are released into vesicles that bud off to the plasma membrane

14. 14 Figure 2.3 Lysosomes Membrane-bound sacs containing > 40 types of digestive enzymes Break down bacteria, cellular debris, and nutrients Tay-Sachs is an inherited lysosomal storage disorder Figure 2.6

15. 15 Figure 2.3 Peroxisomes Sacs with outer membranes studded with several types of enzymes Break down lipids, rare biochemicals Synthesize bile acids Detoxify compounds from free radicals Abundant in liver and kidney cells

16. 16 Figure 2.3 Mitochondria Surrounded by two membranes Site of ATP (energy) production Contain their own circular DNA Human mitochondrial DNA is inherited only from the mother Figure 2.7

17. 17 Structures and Functions of Organelles Table 2.1

18. 18 Figure 2.3 Plasma Membrane Forms a selective barrier A phospholipid bilayer - Phosphate end (hydrophilic) - Fatty acid chains (hydrophobic) Figure 2.8

19. 19 Figure 2.3 Plasma Membrane Contains proteins, glycoproteins, and glycolipids - Important to cell function and interactions - May be receptors - Form channels for ions Figure 2.9

20. 20 Figure 2.3 Faulty Ion Channels Cause Inherited Diseases Sodium channels - Mutations lead to absence or extreme pain Potassium channels - Mutations lead to impaired heart function and deafness Chloride channels - Mutations lead to cystic fibrosis

21. 21 Figure 2.3 Cytoskeleton A meshwork of protein rods and tubules Includes three major types of proteins - Microtubules - Microfilaments - Intermediate filaments Figure 2.10

22. 22 Figure 2.3 Cytoskeleton Functions Maintain cell shape Connect cells to each other Transport organelles and small molecules Provide cell motility (some cell types) Move chromosomes in cell division Compose cilia

23. 23 Figure 2.11

24. 24 Figure 2.12

25. 25 Figure 2.3 Cell Division and Death Normal growth and development require an intricate interplay between the rates of two processes Mitosis – Cell division - Produces two somatic cells from one Apoptosis – Cell death - Precise genetically-programmed sequence

26. 26 Figure 2.12 Figure 2.13

27. 27 Figure 2.3 The Cell Cycle The sequence of events associated with cell division G phase: Gap for growth S phase: DNA synthesis M phase: Mitosis (nuclear division) Cytokinesis: Cell division Figure 2.14

28. 28 Figure 2.3 Stages of the Cell Cycle Interphase - Prepares for cell division - Replicates DNA and subcellular structures - Composed of G 1, S, and G 2 - Cells may exit the cell cycle at G 1 or enter G 0, a quiescent phase Mitosis – Division of the nucleus Cytokinesis – Division of the cytoplasm

29. 29 Figure 2.3 Replication of Chromosomes Chromosomes are replicated during S phase prior to mitosis The result is two sister chromatids held together at the centromere Figure 2.15

30. 30 Figure 2.3 Mitosis Used for growth, repair, and replacement Consists of a single division that produces two identical daughter cells A continuous process divided into 4 phases - Prophase - Metaphase - Anaphase - Telophase

31. 31 Figure 2.15 Figure 2.16 Mitosis in a Human Cell

32. 32 Figure 2.3 Prophase Replicated chromosomes condense Microtubules organize into a spindle Nuclear envelope and nucleolus break down Figure 2.16

33. 33 Figure 2.3 Metaphase Chromosomes line up on the cell’s equator Spindle microtubules are attached to centromeres of chromosomes Figure 2.16

34. 34 Figure 2.3 Anaphase Centromeres divide Chromatids separate and become independent chromosomes - They move to opposite ends of the cell Figure 2.16

35. 35 Figure 2.3 Telophase Chromosomes uncoil Spindle disassembles Nuclear envelope reforms Figure 2.16

36. 36 Figure 2.3 Cytokinesis Cytoplasmic division occurs after nuclear division is complete Organelles and macromolecules are distributed between the two daughter cells Microfilament band contracts, separating the two cells

37. 37 Figure 2.3 Cell Cycle Control Checkpoints ensure that mitotic events occur in the correct sequence Internal and external factors are involved Many types of cancer result from faulty checkpoints

38. 38 Figure 2.16 Cell Cycle Control Figure 2.17

39. 39 Figure 2.3 Telomeres Located at the ends of the chromosomes Contain hundreds to thousands of repeats of a 6-base DNA sequence Most cells lose 50-200 endmost bases after each cell division After about 50 divisions, shortened telomeres signal the cell to stop dividing Sperm, eggs, bone marrow, and cancer cells produce telomerase that prevent shortening of telomeres

40. 40 Figure 2.18

41. 41 Figure 2.3 Apoptosis Begins when a cell receives a “death signal” Killer enzymes called caspases are activated -Destroy cellular components Phagocytes digest the remains Dying cell forms bulges called blebs

42. 42 Programmed cell death is part of normal development Figure 2.18 Mitosis and apotosis work together to form functional body Cancer can result from too much mitosis, too little apotosis Figure 2.19

43. 43 Figure 2.3 Cell-to-Cell Interactions Make multicellular life possible Two broad types 1) Signal transduction 2) Cellular adhesion Defects cause certain inherited disorders

44. 44 Figure 2.3 Signal Transduction The process of transmitting a signal from the environment to a cell - Receptor binds to “first messenger” - Interacts with regulator - Causes enzyme to produce “second messenger” - Elicits cellular response, which is typically enzyme activation - Amplification due to cascade

45. 45 Figure 2.19 Signal Transduction Figure 2.20

46. 46 Figure 2.3 Cellular Adhesion A precise sequence of interactions among proteins that connect cells Example = Inflammation - Three types of cellular adhesion molecules (CAMs) help guide WBCs to the injured area - Secretins, integrins, and adhesion receptor proteins

47. 47 Figure 2.20 Cellular Adhesion Figure 2.21

48. 48 Figure 2.3 Stem Cells A stem cell divides by mitosis - Produces daughter cells that retain the ability to divide and some that specialize Progenitor cells do not have the capacity of self-renewal Figure 2.22

49. 49 Figure 2.3 Stem Cells All cells in the human body descend from stem cells via mitosis and differentiation Cells differentiate down cell lineages by differential gene expression Stem cells are present throughout life and provide growth and repair

50. 50 Figure 2.3 Figure 2.23

51. 51 Figure 2.3 Stem Cells Stem cells and progenitor cells are described in terms of their developmental potential Totipotent – Can give rise to every cell type Pluripotent – Have fewer possible fates Multipotent – Have only a few fates

52. 52 Figure 2.3 Stem Cells in Health Care There are 3 general sources of human stem cells 1) Embryonic stem cells – Created in a lab dish using the inner cell mass (ICM) of an embryo 2) Induced pluripotent stem (iPS) cells – Somatic cells reprogrammed to differentiate into any of several cell types 3) Adult stem cells – Tissue-specific or somatic stem cells

53. 53 Figure 2.24 Stem Cells in Health Care Figure 2.24

54. 54 Figure 2.3 Stem Cell Applications Stem cells are being used in four basic ways 1) Discovery and development of drugs 2) Observing the earliest sign of disease 3) Treatment of disease via implants and transplants 4) Stimulating stem cells in the body via the introduction of reprogramming proteins

55. 55 Figure 2.3 Stem Cell Applications Figure 2.25