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

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

Colloid Ribosomes Cystic fibrosis Golgi complex Cytoplasm Microtubules Microfilament

Chapter 2 Cells

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

Figure 2.1

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

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

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

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

Inborn Errors of Metabolism Affect the Major Biomolecules Box Figure 2.1

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

Structures and Functions of Organelles Table 2.1

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

Figure 2.4 Figure 2.3

Secretion Figure 2.5

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

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

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

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

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

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

Figure 2.10

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

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

Cytoskeleton Figure 2.11

Stop here for Cell Organelle and Plasma Membrane Test

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

Figure 2.14

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

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

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

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.

Overview of Mitosis Continuous process divided into Prophase Metaphase Anaphase Telophase

Mitosis in a Human Cell Figure 2.17

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

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

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

Telophase Chromosomes uncoil Nuclear membranes form Spindle disappears Figure 2.17

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

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

Telomeres are located at the ends of the chromosomes Contain hundreds to thousands of six nucleotide repeats Most cells lose 50-200 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

Apoptosis Programmed cell death is part of normal development Figure 2.20

Telomeres Figure 2.19

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

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

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

Figure 2.24

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

Figure 2.25