1. Concepts and Applications Seventh Edition
Powerpoint Lecture Outline
Human Genetics
Concepts and Applications
Seventh Edition
Ricki Lewis
Prepared by
Mary King Kananen
Penn State Altoona

2. 1 Macromolecules 18 Diffusion 36 Prokaryote 2 Carbohydrate chains 19
Osmosis 37
Eukaryote 3
Primary, secondary, tertiary, quaternary proteins (folding) 20
Passive transport 38
Nucleus 4
Protein channels 21
Active transport 39
Nucleolus 5
Phospholipid bilayer 22
ATP 40
Nucleoplasm 6
Nucleic acids 23
Solvent 41
ER/rough/smooth 7
DNA 24
Solute 42
Lysosomes 8
Deoxyribose 25
Homogeneous 43
Tay-sachs disease 9
Nucleotides 26
Heterogeneous 44
Mitochondria 10
A,T,C,G 27
Suspension 45
Vesicle 11
RNA 28
Colloid 46
Centrioles 12
Ribose 29
Tonicity 47
Ribosomes 13
Uracil 30
Hypertonic solution 48
Vacuoles 14
Plasma membrane 31
Crenate 49
Golgi complex 15
Fluid mosaic 32
Hypotonic solution 50
Cytoplasm 16
Semipermeable 33
Lyse 51
Microtubules 17
Nuclear membrane 34
Isotonic solution 52
Microfilament 35
Cystic fibrosis

3. Colloid
Ribosomes
Cystic fibrosis
Golgi complex
Cytoplasm
Microtubules
Microfilament

4. Chapter 2 Cells

5. Cells The Basic Unit of Life
Organisms can be single cells or collections of many cells
Mutations affect whether the cell functions normally
Cell numbers are important, critical to growth, development, and healing

6. Figure 2.1

7. Types of Cells Prokaryotic cells Lack a nucleus Eukaryotic cells
Contain a nucleus and complex organelles
Figure 2.2

8. Domains of Life Genetic Material Domain in a compartment? Example
Archaea no (prokaryote) Methanopyrus
Bacteria no (prokaryote) E. coli
Eukarya yes (eukaryote) amoeba, plant, human

9. Human Cells > 260 cell types Four categories Epithelial Muscle
Nerve
Connective

10. Macromolecules in Cells
Carbohydrates sugars, starches energy
Lipids fats, oils membranes
Proteins myosin, collagen structures, enzymes
Nucleic acids DNA, RNA genetic material

11. Inborn Errors of Metabolism Affect the Major Biomolecules
Box Figure 2.1

12. An Animal Cell Surrounded by the plasma membrane
Contains a nucleus and cytoplasm with specialized organelles
Figure 2.3

13. Structures and Functions of Organelles
Table 2.1

14. The Nucleus Surrounded by double layered nuclear membrane Contains
Nuclear pores that allow movement of some molecules in and out
Nucleolus, which is the site of RNA production
Chromosomes composed of DNA and proteins

15. Figure 2.4
Figure 2.3

16. Secretion
Figure 2.5

17. Endoplasmic Reticulum (ER)
Interconnected membranous tubules and sacs
Rough ER contains ribosomes, site of protein synthesis
Smooth ER does not contain ribosomes and is important in lipid synthesis
Figure 2.3

18. Golgi Apparatus Final protein folding Stores secreted material
Forms sugars, glycoproteins, and glycolipids
Vesicles of material are released
Figure 2.3

19. Lysosomes Break down bacteria, cellular debris, and nutrients
Contain > 40 types of digestive enzymes
Tay Sacs is an inherited lysosomal storage disorders
Figure 2.6

20. Peroxisomes Contain several types of enzymes
Break down lipids, rare biochemicals
Synthesize bile acids
Detoxify compounds from free radicals
Abundant in liver and kidney cells
Adrenoleukodystrophy (ALD) is an inherited trait of a peroxisome enzyme transport protein
Figure 2.7

21. Mitochondrion Site of ATP (energy) production Has its own circular DNA
Mitochondrial genes are inherited from the mother
Figure 2.8

22. Plasma Membrane Selectively permeable
A phospholipid bilayer forms structure
Contains proteins, glycoproteins, glycolipids
Important to cell function and interactions
May be receptors
Form channels for ions
Figure 2.9

23. Figure 2.10

24. Faulty Ion Channels May Cause Inherited Diseases
Hyperkalemic Periodic Paralysis
Sodium Channels
Long QT Syndrome
Potassium Channels
Cystic Fiborosis
Chloride Channels

25. Cytoskeleton Fibers, filaments, and their associated proteins Dynamic
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

26. Cytoskeleton
Figure 2.11

27. Stop here for Cell Organelle and Plasma Membrane Test

28. Cell Division and Death
Are required for normal growth and development.
Mitosis produces new cells
Mitosis occurs in somatic cells (all cells but egg and sperm)
Apoptosis is cell death that is part of normal development
Necrosis is cell death in response to injury

29. Figure 2.14

30. The Cell Cycle The sequence of events associated with cell division
S phase: DNA synthesis
G phase: gap for growth
M phase: mitosis (nuclear division)
Cell division or cytokinesis is part of G1
Figure 2.15

31. Stages of the Cell Cycle
Interphase
Prepares for cell division
Replicates DNA and subcellular structures
Composed of G1, S, and G2
Cells may progress to mitosis or enter G0,
a quiescent phase
Mitosis division of the nucleus
Cytokinesis division of the cytoplasm

32. Replication of Chromosomes
Process of duplicating a chromosome
Occurs prior to division
Produces sister chromatids
Held together at centromere
Replication is the process of duplicating chromosome. The new copy of a chromosome is formed by DNA synthesis during S-phase. The chromosome copies are called sister chromatids. Sister chromatids are held together at the centromere.
Figure 2.16

33. Mitosis Produces two identical daughter cells
Replicated chromosomes align
Sister chromatids separate and move to opposite poles.
Nuclear membranes form around each new nucleus
Division of cytoplasm or cytokinesis occurs.

34. Overview of Mitosis Continuous process divided into Prophase Metaphase
Anaphase
Telophase

35. Mitosis in a Human Cell
Figure 2.17

36. Prophase Replicated chromosomes condense
Microtubules organize into a spindle
Nuclear membrane breaks down
Figure 2.17

37. Metaphase Chromosomes line up on the metaphase plate
Spindle microtubules are attached to centromeres of chromosomes
Figure 2.17

38. Anaphase Centromeres divide
Chromosomes move to opposite ends of the cell
Figure 2.17

39. Telophase Chromosomes uncoil Nuclear membranes form Spindle disappears
Figure 2.17

40. Cytokinesis Cytoplasmic division occurs after nuclear
division is complete.
Two cells are formed.

41. Cell Cycle Control Proteins called “checkpoint proteins” monitor
progression through the cell cycle.
Figure 2.18

42. Telomeres are located at the ends of the chromosomes
Contain hundreds to thousands of six nucleotide repeats
Most cells lose repeats 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 telomere

43. Apoptosis Programmed cell death is part of normal development
Figure 2.20

44. Telomeres
Figure 2.19

45. Cell-Cell Interaction: Signal Transduction
The process of transmitting a signal from the environment to a cell
Figure 2.21

46. Cell-Cell Interactions: Cell Adhesion Molecules (CAMs)
Figure 2.22

47. Stem Cells and Cell Specialization
Stem cells and progenitor cells renew tissues
Retain the ability to divide and specialize
Described in terms of potential
Totipotent
Pluripotent

48. Figure 2.24

49. Medical Treatments Using Stem Cells
Regenerative medicine
Sources of stem cells
Early embryos from fertility clinics
Somatic cell nuclear transfer
Tissue-based stem cells
Ethical issues associated with use of embryos

50. Figure 2.25