Class Notes, Outline, and Diagrams from Mark Eberle's Human Biology Class
Class Notes, Outline, and Diagrams from Mark Eberle's Human Biology Class 100
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HUMAN BIOLOGY (BIOL 100A: Spring Semester) T EST 1 N OTES O UTLINE Instructor: Mark Eberle (Albertson Hall 424, 628–5264, email@example.com) SCIENCE AND THE SCIENTIFIC METHOD I) Scientific Method A) Observe and Question B) Develop Hypothesis 1) Falsifiable C) Conduct Experiment 1) Variables 2) Large Sample Size 3) Experimental Control 4) Experimental Treatment a) Placebo 5) Avoiding Bias a) Random Samples b) Blind Experimental Design c) Doubleblind Experimental Design 6) Statistical Analysis 7) Repeatability D) Conclusions About Hypothesis 1) Reject Hypothesis a) Revise Hypothesis 2) Provisionally Accept Hypothesis II) Difference between a Hypothesis and a Theory III) Correlation Studies CHEMISTRY I) Atoms A) Protons (+)– B) Electrons (e ) 1) Orbitals and energy levels II) Molecules III) Ions IV) Chemical Bonds A) Ionic Bonds B) Covalent Bonds V) Water (H 2) A) Polar Molecules B) Hydrogen Bonds 1) Hydrophilic Compounds 2) Hydrophobic Compounds C) pH = Hydrogen Ion (H ) Concentration 1) pH Scale (1–7 = Acid; 7–14 = Base; 7 = Neutral) a) Acids b) Bases 2) Buffers VI) Organic Compounds A) Carbohydrates 1) Simple Carbohydrates (Sugars) a) Monosaccharides ● Glucose b) Disaccharides ● Sucrose 2) Complex Carbohydrates (Polysaccharides) a) Plant Starches b) Glycogen ● Association with water c) Cellulose ● Dietary fiber d) Chitin B) Lipids 1) Triglycerides (Fats and Oils) = Glycerol (alcohol) + 3 Fatty Acids a) Saturated Fatty Acids b) Unsaturated Fatty Acids ● Monounsaturated Fatty Acids ● Polyunsaturated Fatty Acids c) Hydrogenated Fatty Acids ● Trans Fatty Acids 2) Waxes 3) Phospholipids 4) Sterols (Steroids) C) Proteins 1) Amino Acids a) Essential Amino Acids 2) Polypeptides 3) Protein Structure (dictates protein function) a) Primary Structure b) Secondary Structure c) Tertiary Structure d) Quaternary Structure 4) Denaturing a Protein D) Nucleic Acids 1) Composed of Nucleotides 2) Nucleic Acids a) Deoxyribonucleic Acid (DNA): doublestranded helix b) Ribonucleic Acid (RNA): single strand 3) Adenosine Triphosphate (ATP) 4) Dinucleotides CELLS I) Cellular Structures A) Plasma Membrane 1) Phospholipids a) Hydrophilic phosphates b) Hydrophobic fatty acids 2) Proteins (4 general functions) 3) Other Molecules B) Cell Wall C) Nucleus (Nuclear Membrane) 1) Prokaryotic Cells 2) Eukaryotic Cells D) Cytoplasm (= Cytosol) 1) Ribosomes: RNA + protein 2) Membrane Organelles (comprised of membranes like the plasma membrane) a) Endoplasmic Reticulum (ER) ● Rough ER ● Smooth ER b) Golgi Complex (= Golgi Bodies, Golgi Apparatus) c) Vesicle 3) “Bacterialike” Organelles (have a circular strand of DNA) a) Mitochondria b) Chloroplasts 4) Cytoskeleton a) 4 general functions ● ● ● ● Flagella Cilia II) Cellular Processes A) Movement of Molecules through Membranes 1) Passive Transport a) Diffusion ● Osmosis Isotonic Solution Hypertonic Solution Hypotonic Solution b) Facilitated Diffusion ● Transport Protein (= carrier protein) 2) Active Transport ● Energy from ATP or highenergy electron ● Transport Protein (= carrier protein) 3) Endocytosis 4) Exocytosis B) Metabolism 1) Activation Energy 2) Catalysts a) Enzymes ● Substrate Molecule(s) ● Active Site ● Inhibitors ● Activators (cofactors) 3) ATP (adenosine triphosphate) C) Proton Pump D) Photosynthesis 1) Steps to harness energy (making ATP from ADP + phosphate) 2) Steps to build carbohydrates E) Cellular Respiration 1) Glycolysis 2) Anaerobic Respiration a) Alcohol Fermentation b) Lactate Fermentation 3) Aerobic Respiration a) Citric Acid Cycle b) Electron Transport System HUMAN BIOLOGY (BIOL 100A: Spring Semester) T EST 3 N OTES O UTLINE Instructor: Mark Eberle (Albertson Hall 424, 6285264, firstname.lastname@example.org) ANIMAL A&P I) Levels of organization A) Cell → Tissue → Organ →Organ System → Organism B) 4 categories of tissues 1) Epithelial tissue (epithelium) 2) Connective tissue (intercellular matrix) 3) Muscle tissue 4) Neural tissue II) Integumentary system A) Skin 1) Epidermis a) Melanocytes ● Melanin 2) Dermis a) Follicle B) Subcutaneous layer C) Functions 1) Protective barrier 2) Sensory surface 3) Regulation of body temperature III) Skeletal system A) Vertebrate skeleton (endoskeleton) B) Components 1) Bones 2) Cartilage 3) Ligaments 4) Tendons C) Bone structure and cellular functions 1) Protein fibers a) Vitamin C and collagen b) Scurvy 2) Deposition of calcium compounds a) Vitamin D and calcium absorption b) Rickets 3) Removal (and replacement) of calcium compounds D) Skeletal system disorders 1) Osteoarthritis 2) Rheumatoid arthritis 3) Osteoporosis E) Red bone marrow IV) Muscular system — Skeletal (striated) muscles A) Muscle fiber (cells) 1) Muscle filaments (proteins) a) Actin b) Myosin B) Muscle contraction process: “sliding filaments” 1) Mitochondria 2) Endoplasmic (sarcoplasmic) reticulum V) Circulatory system A) Cardiovascular system 1) Heart — Cardiac muscle a) Path of blood ● Right atrium ● Right ventricle ● Lungs ● Left atrium ● Left ventricle b) Heart valves ● Heart murmur c) Heart nodes ● Electrocardiogram (EKG) 2) Blood vessels a) Arteries b) Veins c) Capillaries 3) Blood a) Blood plasma b) Blood cells ● Erythrocytes (red blood cells) ● Leukocytes (white blood cells) ● Platelets Blood clots Fibrin (protein) 4) Cardiovascular Disease a) Heart attack b) Stroke c) Atherosclerosis ● Plaque ● Cholesterol Lowdensity Lipoprotein (LDL) Highdensity Lipoprotein (HDL) d) Blood pressure ● Systolic period ● Diastolic period ● Hypertension B) Lymphatic system 1) Lymph vessels 2) Lymph nodes 3) Spleen VI) Immune system A) Bacteria 1) Prokaryotic 2) Unicellular 3) Cell wall of peptidoglycan 4) Heterotrophic 5) Autotrophic 6) Endospores 7) Importance of bacteria to people a) Decomposers b) Nitrogen fixation c) Body flora d) Pathogens ● Vaccinations ● Antibiotics ● Drug resistance and natural selection B) Viruses 1) Components of viruses a) Protein coat b) DNA or RNA c) Enzymes d) Enveloped viruses 2) Viral reproduction a) Retroviruses ● Reverse transcriptase 3) Antibiotics and antiviral drugs C) Immune system functions 1) Physical and chemical barriers a) Integument b) Chemicals ● Enzymes and other chemicals in sweat and tears ● Enzymes and acid in stomach, urinary system, and reproductive system ● Mucus and cilia in respiratory system ● Wax in ears c) Normal body flora 2) Nonspecific (innate) immunity a) Leukocytes ● Phagocytic cells Neutrophils Macrophages Fever ● Dendritic cells ● Natural Killer Cells Interferon Viral infections and Cancer b) Inflammatory response ● Mast cells (called basophils in the blood) Histamine and other chemicals 3) Specific (adaptive) immunity a) Lymphocytes (Bcells and Tcells) b) Respond to presence of antigens ● Antibody Bcells ● Memory cells (Bcells and Tcells) Effector cells Vaccinations ● CytotoxicTcells ● HelperTcells Antigenpresenting cells (macrophages and dendritic cells) 4) Lymphatic system a) Lymph vessels b) Lymph nodes c) Peyer’s patches d) Spleen 5) Immune system disorders a) Allergies ● Local allergy ● Systemic allergy b) AIDS (Acquired Immune Deficiency Syndrome) ● Human Immunodeficiency Virus (HIV) ● HelperTCells and macrophages ● 3 stages of HIV infection Initial infection Asymptomatic phase AIDS HUMAN BIOLOGY (BIOL 100A: Spring Semester) T EST 2 N OTES O UTLINE Instructor: Mark Eberle (Albertson Hall 424, 6285264, email@example.com) GENETICS I) Genome → Chromosomes → Genes II) Chromosomes A) DNA 1) Double Helix B) Homologous Chromosome Pairs 1) Diploid Cells 2) Haploid Cells 3) Sex Chromosomes 4) Autosomes 5) Karyotype C) Genes 1) Alleles a) Homozygous Alleles b) Heterozygous Alleles 2) Genotype 3) Phenotype III) Cellular Division A) Mitosis 1) Interphase a) Replication ● DNA Polymerase ● Chromatids ● Centromere 2) Prophase a) Spindle Fibers 3) Metaphase 4) Anaphase 5) Telophase 6) Cytokinesis B) Meiosis 1) Gametes 2) Meiosis I a) Interphase I b) Prophase I c) Metaphase I d) Anaphase I e) Telophase I f) Interkinesis 3) Meiosis II a) Interphase II b) Prophase II c) Metaphase II d) Anaphase II e) Telophase II f) Cytokinesis C) Meiosis and Genetic Diversity 1) Independent Assortment 2) Crossing Over IV) Heredity A) Gregor Mendel B) Principle of Dominance 1) Complete Dominance a) Dominant b) Recessive 2) Other Types of Dominance a) Incomplete Dominance b) Codominance C) Principle of Segregation D) Principle of Independent Assortment 1) Gene Linkage E) Multiple Alleles F) Polygenic Inheritance V) Gene Expression A) Anatomy of a Gene 1) Promoter Site Gene 2) Deoxyribonucleic Acid (DNA): Doublestranded Helix 3) Ribonucleic Acid (RNA): Single Strand a) Nucleotides ● Nitrogenous Bases Adenine (DNA, RNA) Cytosine (DNA, RNA) Guanine (DNA, RNA) Thymine (DNA only) Uracil (RNA only) ● Base Pairs (connected by hydrogen bonds) DNA: C ≡ G and A = T RNA: C ≡ G and A = U B) Transcription 1) RNA Polymerase 2) Messenger RNA (mRNA) a) Exons b) Introns 3) Activator 4) Repressor C) Translation 1) mRNA a) Codon 2) Transfer RNA (tRNA) a) Anticodon 3) Ribosomes a) Ribosomal RNA (rRNA) b) Proteins 4) Polypeptide (sequence of amino acids) Protein Product VI) Genetic Disorders (know name, symptoms, and proper function of protein for 4 gene disorders) A) Gene Disorders 1) Cystic Fibrosis 2) Sicklecell Disease 3) Hemophilia a) Sexlinked (Xlinked) Condition 4) Duchenne’s Muscular Dystrophy B) Chromosome Disorders 1) Down Syndrome VII) Mutations A) Point (Gene) Mutations 1) Ionizing Radiation a) Free Radical b) Antioxidants 2) Ultraviolet (UV) Radiation 3) Chemical Mutagens B) Chromosome Mutations 1) Deletions 2) Inversions 3) Duplications 4) Translocations VIII) Cancer A) Stem Cells 1) Embryonic Stem Cells 2) Adult Stem Cells 3) Regenerative Medicine B) Cancer C) Regulation of Cell Division 1) Chemical Controls a) Positive Growth Regulators ● Protooncogenes ● Oncogenes b) Negative Growth Regulators ● Tumor Suppresser Genes 2) Physical Controls a) Contact Inhibition b) Anchorage Dependence c) Telomere ● Telomerase 3) Natural defenses against cancer a) Repair Proteins b) Leukocytes (white blood cells) D) Transformation 1) Attributes of Transformed Cells a) Remain undifferentiated to some degree b) Lose contact inhibition ● Benign Tumor c) Lose anchorage dependence ● Metastasis (metastasizing cancer) ● Malignant Tumor d) Have active telomerase e) Rapidly transport materials through the plasma membrane f) Exhibit angiogenesis E) Cancer Risk Factors 1) Inherited alleles 2) Increasing age 3) Viruses 4) Physical and Chemical Carcinogens 5) Diet 6) Immune system health F) Treatments for Cancer 1) Surgery 2) Radiation 3) Chemotherapeutic Drugs a) Angiogenesis Inhibitors 4) Vaccines 5) Immunotherapy a) Antibodies b) Engineered leukocytes IX) Genetic Engineering A) Recombinant DNA (rDNA) B) Vectors 1) Plasmid 2) Virus C) Restriction Enzymes 1) “Sticky Ends” 2) “Blunt Ends” D) Applications for rDNA 1) Produce Proteins 2) Alter Organisms (GMOs) 3) Human Gene Therapy X) Forensic Genetics A) Polymerase Chain Reaction (PCR) 1) Amplification of DNA 2) Primers 3) DNA Polymerase B) DNA “Fingerprinting” 1) Nucleotide Repeats 2) Restriction Enzymes 3) Gel Electrophoresis XI) Evolution A) Genetic Equilibrium B) Natural Selection 1) Charles Darwin 2) Fitness HUMAN BIOLOGY (BIOL 100A: Spring Semester) T EST 4 N OTES O UTLINE Instructor: Mark Eberle (Albertson Hall 424, 6285264, firstname.lastname@example.org) ANIMAL A&P (continued) I) Respiratory system A) Human respiratory system 1) Diaphragm 2) Nasal cavity a) 3 functions of respiratory passageways ● Clean air ● Moisten air ● Warm air 3) Pharynx 4) Larynx a) Vocal cords 5) Trachea a) Cilia and Mucus 6) Bronchi 7) Bronchioles 8) Alveoli B) Hemoglobin 1) 4 Polypeptides (quaternary protein structure) 2) 4 Irons 3) Oxygen (O 2 4) Carbon monoxide (CO) 5) Carbon dioxide (CO ) 2 C) Asthma D) Fish Gills 1) Countercurrent flow E) Avian respiratory system 1) Countercurrent flow a) Posterior air sacs b) Lung c) Anterior air sacs II) Digestive system A) Nutrients and Energy 1) Calories and kilocalories B) Mouth 1) Teeth 2) Saliva (digestive enzyme) C) Pharynx 1) Soft palette 2) Epiglottis D) Esophagus 1) Peristalsis (continues through stomach and intestines) a) Smooth muscle E) Stomach 1) Sphincters 2) Acid (2 functions) 3) Digestive enzymes 4) Mucus 5) Heartburn 6) Gastric (stomach) ulcer F) Small Intestine 1) Digestion 2) Nutrient absorption a) Villi b) Microvilli 3) Three segments a) Duodenum ● Digestive enzymes ● Mucus Duodenal ulcer ● Pancreas Digestive enzymes Bicarbonate (buffer) ● Liver Bile salts (bile) Gall bladder b) Jejunum ● No mucus ● Large villi c) Ileum ● No mucus ● Extensive lymph tissue Peyer’s patches G) Large Intestine 1) Colon a) Absorption of water, salts, and fatsoluble vitamins ● Active transport and osmosis b) Laxatives c) Dietary fiber ● Water ● Cholesterol d) Bacteria (body flora) 2) Rectum H) Anus (anal sphincter) III) Nervous system A) Neurons 1) Cell body 2) Dendrites 3) Axon a) Myelin sheath B) Central nervous system 1) Cerebrum a) Cerebral cortex C) Peripheral nervous system 1) Somatic (voluntary) nervous system 2) Autonomic (involuntary) nervous system D) Nerve impulses 1) Resting membrane potential + a) Sodiumpotassium pump actively transports sodium ions (Na ) outside of cell and potassium ions (K ) into cell. b) Membrane is polarized (inside negative – outside positive). 2) Action potential a) “Disturbance” to membrane triggers opening of sodium channels (transport proteins for diffusion of sodium) in cell membrane. b) Sodium (Na ) diffuses into cell, reversing polarity (inside positive – outside negative). 3) Repolarization + a) Potassium (K ) diffuses out of cell through membrane transport proteins, restoring original polarity (inside negative – outside positive). 4) Sodiumpotassium pump actively transports sodium back out of cell and potassium back into cell to restore original resting membrane potential (inside negative – outside positive). 5) Impulse (action potential) travels down neuron, opening additional sodium channels. a) Saltatory conduction ● Action potential “jumps” from one node of Ranvier to next node of Ranvier between myelinated sections of axon. E) Neural pathway 1) Receptor 2) Sensory neuron a) Synapse ● Neurotransmitter 3) Central nervous system neuron(s) a) Synapse 4) Motor neuron 5) Muscle, organ, etc. F) Alzheimer’s Disease G) Parkinson’s Disease H) Multiple Sclerosis (MS) IV) Endocrine system A) Endocrine glands 1) Hormones 2) Receptor proteins B) Steroid hormones 1) Hormone enters target cell. 2) Hormone attaches to receptor protein in cytoplasm or nucleus. 3) Hormone and receptor protein initiate transcription of a protein. C) Peptide hormones 1) Hormone attaches to receptor protein in plasma membrane. 2) Receptor protein changes shape and initiates chemical reactions within cell. D) Regulation of some hormones 1) Hypothalamus 2) Pituitary gland E) Pancreas 1) Insulin 2) Glucagon 3) Diabetes a) Type I diabetes b) Type II diabetes F) Sex hormones 1) Estrogen 2) Progesterone 3) Testosterone a) Anabolic steroids 4) Pituitary hormones V) Excretory system A) Kidney 1) General functions a) Osmotic balance b) Acid–Base (pH) balance ● Bicarbonate c) Nitrogenous waste removal ● Ammonia ● Urea ● Uric acid 2) Nephron function a) Pressure filtration b) Selective reabsorption c) Water–Salt (sodium and chloride) reabsorption (in the Loop of Henle) + d) Secretion (for example, H moving into nephron) e) Collecting duct water reabsorption ● ADH (antidiuretic hormone) B) Urinary bladder VI) Reproductive system A) Internal fertilization B) Female reproductive system 1) Ovaries a) Follicles ● Oocytes ● Ovum (plural is ova) 2) Fallopian tubes (= Oviducts) 3) Uterus C) Male reproductive system 1) Testes a) Sperm 2) Prostate gland and other glands D) Estrus (estrous cycle) E) Menstrual cycle 1) Ovulation 2) Hormones a) Estrogen b) Progesterone 3) Fertilization (conception) a) Zygote 4) Mitosis and cytokinesis a) Embryo 5) Implantation a) Fetus Human Biology 100 A – Biome Images Instructor: Mark Eberle Coastal Zone Kelp Forest (temperate latitudes) Oregon Coast Aquarium, Newport, Oregon (photographs by Megan Rohweder) Coral Reef (tropical latitudes) Rain Forests (precipitation >100” per year) Tropical Rain Forests: o near equator in northern South America, western Africa, and islands between Southeast Asia and Australia o broad-leaved evergreens o richest species diversity of any ecosystem — also have high biomass o relatively shallow soils (most nutrients tied up in biomass) Temperate Rain Forests o e.g., northwestern coast of North America o conifers and broad-leaved evergreens (lower species richness than tropical rain forests) Olympic National Park, Washington (photographs by Mark Eberle) Temperate Deciduous Forests eastern North America, Europe, and eastern China broad-leaved deciduous trees precipitation ~30–60” per year; summer and winter seasons soils reasonably well developed (leaf fall) Ricketts Glen State Park, Pennsylvania (photograph by Mark Eberle) Wilson’s Creek National Battlefield, Missouri (photograph by Mark Eberle) Taiga (Northern and Montane Coniferous Forests) Canada, Scandinavia, and Russia (also N–S mountain ranges, such as the Rocky Mountains) conifers (low species richness) most precipitation comes as snow relatively long winters (short growing season) soils relatively thin and acidic Lincoln National Forest, New Mexico (photograph by Bill Stark) Calaveras Big Tree State Park, California (photograph by Mark Eberle) Tundra (Alpine Tundra and Arctic Tundra) Alpine Tundra on highest mountains; Arctic Tundra farthest north in North America, Europe, and Asia few trees; mostly shrubby due to soil permafrost flora dominated by lichens (fungus + alga) and low-growing plants little annual precipitation in Arctic Tundra (<10” per year) Alpine Tundra, Medicine Bow National Forest, Wyoming (photograph by Eric Hoch) Temperate Grasslands central North America, western China, and smaller areas in South America, South Africa, and Australia dominated by grasses, with some clumps of trees (e.g., along streams) similar climate to temperate deciduous forests, but less precipitation (10–40” per year) o drier conditions and wildfires limit tree growth soils relatively deep (extensive fibrous grass roots) Z-Bar Ranch, south-central Kansas (photograph by Shauna Marquardt) Big Creek, Hays, Kansas (photographer unknown) Savannas (Tropical Grasslands) relatively large areas South America, eastern & south-central Africa, and eastern Australia dominated by grasses and small trees climate with 3 general seasons 1. cool-dry, 2. hot-dry, and 3. warm–wet ~30–60” of precipitation per year (similar to temperate deciduous forest), but regular drought soils somewhat less fertile than those of temperate grasslands South Africa (photographs by Niki Lambrecht) Deserts western North America, North Africa, Middle East, central Asia (Mongolia), and central Australia dominated by shrubs, succulents (e.g., cacti), and bunchgrasses defined primarily by limited precipitation (generally <10” per year) “hot deserts” — short or absent winter season; “cold deserts” — relatively long winter season o NOT hot and cold desserts White Sands National Monument, New Mexico (photograph by Mark Eberle) “Hot Desert”, Arizona-Sonora Desert Museum, Tucson, Arizona (photograph by Mark Eberle) “Cold Desert”, Great Basin, Nevada (photograph by Jenn Nylund) Estuaries (Ecotone) ecotones = area of transition between 2 adjacent ecosystems estuary = ecotone between freshwater from land and saltwater of ocean o low species richness o high productivity (comparable to tropical rain forests) South Slough National Estuarine Research Reserve, Coos Bay, Oregon (photograph by Mark Eberle) Genetics – Test 2 Genome (all genetic information) Chromosome (genomes are organized in chromosomes) Gene (piece of DNA) Hydrogen bonds Nucleic acids nucleotides We are only going to be concerned about nitrogenous bases o Cytosine = C o Guanine = G o Adenine = A o Thymine = T Gene = segment of DNA that codes for the production of a protein o Then those proteins carry functions within the cells o Protein structure – important because it allows the cells to do their jobs o Allele = an alternate form of the same gene Example: Blood type Recognition proteins o DNA strands have to be replicated (duplicated) See diagram for explanation DNA polymerase = makes DNA – takes the original and duplicates it Chromatid = not functional chromosome yet – it will be eventually o Homologous chromosomes Chromosome that are the same These have the same genes Humans have 46 chromosomes This means 23 homologous pairs of chromosomes The alleles might not be the same 2 sex chromosomes Women XX Men XY o They are different between the sexes This means men have fewer chromosomes Sex-linked = means its because of male/female differences 44 autosomes = everyone has them Cytokinesis (process of creating new cells) we have 46 chromosomes in our cells = 23 from mom and 23 from dad o Mitosis Interphase DNA is replicated Chromosomes begin to condense Prophase Chromosomes finish condensing Nuclear membrane breaks down Appearance of spindle fibers o Proteins – these are part of the cytoskeleton Metaphase Spindle fibers move the chromosomes to the center of the cell Anaphase Fibers start to separate Telophase Chromosomes get longer Nuclear membrane starts to reform Finally cell division is visible = cytokinesis occurs Should end up with 2 identical cells o Meiosis Reduction division Trying to take the cell with 46 chromosomes and put it into 23 – cutting the cell in half Trying to form gametes (for sexual reproduction) These half cells are called haploids Purpose is the put two of these together to create a new cell with genes from mother and father Interphase Making copies – starts to condense Prophase Finish condensing Metaphase Chromosomes are side by side Anaphase Half are going one way – and half are going the other way Telophase Cell division Meiosis if very similar to Mitosis – only differences are in Metaphase and Anaphase Meiosis I and meiosis II are very similar Meiosis II o Have to do this twice to get the copy o In most cells these create 4 – in males they all survive – in females only one survives but it is much bigger Meiosis is important because it increases genetic diversity o Independent Assortment Sometimes in Metaphase when the cells line up – they don’t always line up on the same side – mix on each side From mixing up these genes there are 8,388,608 possibilities Prophase I = Crossing over o Chromosomes with the same genes will break apart and join with chromosomes and their genes – a mixture of both on one chromosomes o With crossing over there are 70,368,744,000,000 possibilities Meiosis = is all about sexual reproduction Mitosis = Asexual reproduction Heredity Homologous chromosomes o Have the same genes but not necessarily the same alleles o Thus genes typically come in pairs in most cells o Genotype = the pair of alleles o Phenotype = the trait expressed by the pair of alleles Gregor Mendel 1800’s – he was a monk o PExample of dominance R (red petal) is dominant r (white petal) is recessive Go RR (homozygous)o Redype o Rr (heterozygouo Red o rr (homozygous)o White rinciple of Segregation o P During Meiosis each gamete (haploid cell) has only one copy of the geExample RX X r o Principle of Independent Assortment RX X r RX X r O TX X t tX XT R o o o R T r t O R t r T o o Exception: gene linkage – the genes are on the same chromosome and are typically inherited together R TX Io Example: red and white genes blend together to make pink Co-dominancen – not one or the other o Example: red and white will both show - striped – not pink Punnett Square o Used for predictions in genetics o Cystic fibrosis (example) o FfxFf F f F F F F f f Ff ff ABO Blood Type o Recognition proteins How your system knows what to attack and what not to attack o Phenotype (=blood type) Phenotyp Genotype e A IAIA IAIO B IBIB IBIO O IOIO AB IAIB o Charlie Chaplin – 1920’s Women claimed that her child was Charlie’s son – wanted money from him In the 1920 we could determine phenotypes Mother was Type A Baby was Type B MotherwasIIAIAO Child waIBB IBO The B would have had to come from father Charlie Chaplin was Type O – couldn’t prove that he was the father o Polygenic Inheritance Many genes Gene Expression Genetic code = sequence of nucleotides on DNA Nucleotides have 5 nitrogenous bases o Adenine (A) o Thymine (T) o Cytosine (C) A T C A U C T A G DN U A G RN A A o Guanine (G) o Uracil (U) Nitrogenous base pairs connected by hydrogen bonds Anatomy of a Gene Promoter GENE Terminatio n Sequence DN RNA A Polymerase + Activation Proteins Transcription o Using DNA mRNA o m = messenger RNA Polymerase = enzyme Activation proteins “unzip” the proteins mRNA o Exon = nucleotide sequence that codes for an amino acid sequence This is the part that can be expressed These are the good parts – we want to keep them o Intron = extra nucleotides that don’t help make a protein These are the harmful parts that don’t help These are the parts forensics are interested in because they are different in each person Making mRNA 1. Activator proteins o Can be turned on or turned off by changing their shape 2. Repressor proteins o Function is to block attachment of RNA polymerase 3. Regulated speed o We can control speed 4. mRNA o Only remains active a certain time – then enzymes break it down Translation – Part II Occurs in the cytoplasm Using the message on the mRNA to make a protein Going from sequence of nucleotides (4 of these) to sequence of amino acids (20 of these) Nucleotides come in groups of 3 o These “triplets” = codon (mRNA) specific amino acid AUG – always first These tell the body that it needs methionine Translation (see handout 1) 1. mRNA – carries message from RNA 2. tRNA = transfer RNA o Transfers (=carries) a specific amino acid 3. Ribosomes = RNA + protein Genetic Disorders Name, normal protein function, symptoms (for test – need to know) Most genetic disorders are recessive These are inherited Cystic Fibrosis Most common fatal genetic disorder among Caucasians Have a thick mucus that primarily affects the lungs, liver, and pancreas Transport protein – helps things get back and forth within the membrane o This protein transports chloride outside the cell o Becomes hypertonic (high solute, low water) o Mucus becomes too thick – not enough water to clear it out Sickle-cell Disease Most common fatal genetic disorder among African Americans and people from around the Mediterranean Affects hemoglobin – helps transport oxygen in the body Co-dominant – producing good and bad hemoglobin RNA Used to be called Sickle-cell anemia – now it is called disease Polymerase Normally a red blood cell lives 120 days – sickle-cells only live about 16 days o Anemia = low blood cell count They are shaped differently – curved not round – don’t flow like normal – restricts blood flow Symptoms occur during oxygen stress – should keep exercise levels low 1/500 African Americans have this Hb A = normal ------- HbS= Sickle-cell No cure – there are treatments Hemophilia Proteins that make blood clots Symptom = cant stop bleeding 12 proteins to make a blood clot o 10 of these are on autosomes (non-sex chromosomes) o 2 on x chromosome Much more common in males – passed from the mother These people are missing those 2 sex-linked chromosomes These diseases are called sex-linked or x-linked Duchenne’s Muscular Dystrophy (MD) Fairly common – sex-linked There is a protein called dystrophin Attaches muscles fibers to the plasma membranes – inside the cell Helps protect muscles from stress Muscles just don’t work – become very weak There are many more genetic disorders Mutations These are not inherited – something has damaged the DNA 2 types of mutations: 1. Point mutations o Occur on one specific piece of DNA o Substitution – substituting one base for another AGGAGC o We have 20 amino acids used to build proteins o 64 codons GUA GUC GUC GUU Some will cause problems – some will not o Insertion or Deletion – instead of swapping – it actually pulls or adds another base Upsets all the codons – causes many problems Has a ripple effect o Causes of point mutations 1. Spontaneous mutation Happen during replication We are ready for it – DNA repair enzymes – these enzymes look for this and change it if it happens 2. Ionizing Radiation Can be caused by something like x-rays Very high energy radiation Absorbed by atoms in the cell Causes electrons to come off these atoms – molecules loose electrons Once it has lost an electron – it becomes a “free radical” – needs an electron to compete the outer orbit They start to remove electrons from DNA – then DNA is affected and can’t produce the right kind of protein We do have repair enzymes that catch some of this Just don’t do more x-rays than necessary Most common risk of this is cancer With this we hear more about antioxidants = they help to fix free radicals 3. Ultraviolet Radiation (UV) Low energy radiation Occurs with suntans – when exposed to sunlight the body darkens the pigment to protect from UV rays Causes thymine to attach to itself – called a thymine dimer This is different from ionizing radiation – wont go past the skin Most common problem is skin cancer 4. Chemical Mutagens Chemicals that create mutations Example = cigarette smoke 2. Chromosomal mutations o Types of chromosomal mutations 1. Deletion Part of chromosome breaks off 2. Inversion Chromosome breaks off – and reattaches upside down – genes are in the wrong order 3. Duplication Part of the chromosome breaks off and goes into a different cell – too many chromosomes Down Syndrome 4. Translocation Changed locations Part of a chromosome breaks off and attaches to a non- homologous chromosome Cancer Stem cells These can still control cell division o Cells that can divide forever Embryonic stem cells Can become anything Adult stem cells Can’t become anything Can become certain tissues/organs- we use these for testing because they don’t have to be inside an actual person o Undifferentiated Regenerative Repairing tissue Used in skin graphs Cancer cells o Uncontrolled growth of cells that have lost the ability to regulate cell division Chemical signals o Positive growth regulators These stimulate cell division o Negative growth regulators Stop cell division or cause cells to die Physical signals o Help to control cell division o Contact Inhibition Cells in contact with other cells do not normally divide o Anchorage dependence Certain cells must be in contact with a surface material o Telomere Telomere is the tip of a chromosome A little piece of telomere will break off with each cell division Once the telomere is gone, the cell cannot divide again Stem cells have telomerase = its job is to repair the telomere So these cells can keep going and going with nothing stopping them Transformation o The process by which a normal cell becomes a cancer cell o Most of the cancers happen in adult stem cells (cells that are normally dividing) o 2 main places where we have cell division Epithelial – skin tissues Digestive tract o We also see a lot of cell division in lungs and bone marrow o Transformed cells have 6 features in common 1. Remain undifferentiated to some degree Some cells will somewhat still do their jobs – some won’t do their job at all 2. These cells lose contact inhibition Tumor – cells have lost their function o Benign Tumors It grows but it doesn’t affect the normal tissue o Malignant tumors It is invading the normal tissue 3. Lost their anchorage dependence They can spread Metastasis o “Metastasizing” o This means it has lost its anchorage and its spreading 4. These transformed cells have active telomerase These cells become immortal 5. Transformed cells typically transport materials through their plasma membrane at a higher rate than a normal cell They have a better ability to get nutrients and protein – tend to starve the normal cells around it 6. Exhibit angiogenesis “Angio” = blood vessels –-- “genesis” = to make new o Ability to create new blood vessels o For this transformation to occur, multiple cells have to do this – not just one o Proto-oncogenes = a good gene – produces proteins that promote and regulate cell division When genes are mutated they are called oncogenes – Greek for cancer Proto is the transformation – they have been altered Tumor Suppresser genes – produce proteins that inhibit cell division or they cause transformed cells to die Most cancers are associated with older age – older people have lived longer so they have had longer time for these cells to do this o Cancer is not an inherited disease but you can inherit the risk – higher chance for mutated genes – can inherit bad alleles o BRCA1 & BRCA2 – Breast Cancer 1 or 2 – can be tested to see if you have these genes in your body o About 85% of childhood cancer is leukemia (cancer in the blood) There are many types of leukemia o In adults 85% of cancer is carcinomas – (the skin cancers) o Viruses – affect people by inserting its DNA into the host’s DNA Feline leukemia virus – from cats that have cancer Human papilloma virus (HPV) – increases risk for cancer in the reproductive system o Diet can have an affect on risk to get cancer o Immune system health – can affect risk to get cancer Our immune system helps fight cancer We have cells that are designed to fight cancer cells o Have to look at family history and do testing to protect from cancer Cancer Treatments Surgery o This works for the particular cancers that form a tumor o If it hasn’t metastases then removing the tumor can cure the cancer o One form of surgery is Cryosurgery Cryo = cold Insert materials that freeze the tumor Done on cervical cancer, prostate cancer, and others Less risky – its just cold – less invasive Radiation Therapy o Kills a tumor in place o DNA just starts to break apart o Radiation damages the DNA cells so much that they die o More side effects Hair falls out Immune system is damaged o Damages DNA – can lead to other cancers – “secondary cancers” Chemotherapy o Chemical therapy o Using drugs that block replication o Can also use drugs that block transcription o Risks Might use drugs that harm DNA Hair falls out Nausea o Cancer cells can become resistant to drugs Angiogenesis Inhibitors o Tumors need blood supply – angiogenesis = to make new blood vessels o These inhibitors are used to slow down the creation of new blood vessels o They help my slowing the cancer down o This gives the other treatments more time to help Vaccines o Stop them before they start o Only works on cancers that are caused by viruses o HPV, feline leukemia Immunotherapy o Therapy using your own immune system o Create proteins called antibodies Antibodies = protein that attaches to the markers on certain cells so the immune system (white blood cells) will attack them o We are able to remove the white blood cells from a persons body – create them so that they attack cancer and them put them back in the body Bone Marrow Transplants o Helps with the cancer that affect bones, blood o This is an extreme option o Have to get rid of all the original bone marrow and then new bone marrow is implanted Genetic Engineering The manipulation of specific genes o Adding a gene or exchanging a gene Recombinant DNA (=rDNA) o Combined DNA from 2 or more places First the genes are manipulated and then we use a vector to get them inside the cells o Vector = the means of adding DNA to a host cell o Currently there are 2 things we can use as vectors Viruses - attaches to a host cell and then tells the cell to copy itself – we just alter the virus so its helpful Plasmids – a circular piece of DNA that is present in some bacteria – not used in humans Restriction Enzymes o These are an enzyme that cut DNA at specific sites Creating rDNA = using a restriction enzyme to cut the DNA o Sticky ends – the ends like A’s and T’s o Blunt ends – cuts in the middle CTTAA G o Combine vector DNA with the new gene G AATTC o Now there is a big piece on DNA we call rDNA – we put it in ^^Restriction the vector and insert into the host cell enzyme 3 general categories for rDNA use 1. Insert genes into bacteria – bacteria produce a gene o When we do this we have to remove the introns o Then it makes proteins that we need – example: insulin 2. Insert genes into organisms to improve desirable genetic traits o GMOs – genetically modified organism – actually go in and genetically add or modify them o Sometimes more than one gene is altered o People are nervous about eating organisms with this 3. Insert genes into humans o If someone is sick – just cure it by putting the correct gene into their body o A form of gene therapy o Problems 1. Have to get the genes into the right cells 2. Sometimes we have to get the gene to the right part of the chromosome 3. Bad genes are still in the cells – we can add but we cant subtract 4. Sometimes its more than one gene that is affected 5. Ethic issues – “ordering” children – genetically modifying for choices – can be very helpful to sick people – but some people will misuse this Forensic Genetics – (handout 2) PCR = Polymerase Chain Reaction o Polymerase is an enzyme o If a word ends in “merase” it is an enzyme o Amplify sample = to make more copies of it DNA fingerprinting o Using the introns – extra bits that don’t code for DNA sequence o These are how forensic science can determine that one sample is unique from another o Short tandem repeats TAAGCTTAAGCTTAAGCT Repeating in the same sequence – we can distinguish from one person to the next o Restriction enzymes are used to chop up the DNA – we can chop the repeat sections Evolution A change in the frequencies of alleles in a population through generations How things become resistant to drugs and other therapies Genetic equilibrium No change in the frequencies of alleles in a population through generations Natural selection The process by which some individuals in a population, who’s alleles make them better suited to a change in the environment that will produce the greatest number of surviving offspring Their genetic information is going to increase in that population Fitness Talking about reproductive potential – not about strength When there is a change in the environment better fitness means better chance for survival 1. Genetic variation –naturally occurring 2. Populations typically produce more offspring than can survive People to know Mendel (from above in the pundit squares) Charles Darwin o Theory of natural selection – how organisms change over time Natural selection in cancers and diseases If we go in to treat a cancer the treatments will kill off all the ones that we can – this leaves the strong and immune cells – then it really takes over Human Biology Notes – Test 3 CellsTissuesOrgansOrgan SystemsOrganism 4 main types of tissues o 1. Epithelial Tissues Linings – skin, inside of digestive system, line the insides and outsides of blood vessels o 2. Connective Tissues Characterized by intercellular matrix – tissues that have material between the cells Examples: blood cells (not attached to each other) bone cells Cells that aren’t connected o 3. Muscle tissues 3 general types 1. Striated = Skeletal Muscle (same thing different names, either will work) o Voluntary muscle – can consciously control this o Examples: arms, diaphragm 2. Smooth Muscles o Involuntary muscles o Digestive tract 3. Cardiac Muscles o Found in the heart o 4. Neural (Nervous) Tissues Nerves Organs are made of 2 or more of the above tissues Skin and Bones (handout 1) o Integumentary system (skin) Covers the outside of the body Largest organ in the body – many different types of tissues 15% of your weight is skin 3 main layers Epidermis o These cells are dead or dying o They fall off and take viruses and bacteria with them o The cells underneath are going through cell division to create new cells to replace the outer layer o Melanocyte = cell that produces melanin in response to ultraviolet light to protect from damage (melanin = brown pigment that colors our skin) o Dermis o Thickest layer in our skin o Contains the nerves, blood vessels, glands o Living part of the skin o Hair follicles – produces hair – provides insulation o Muscles are associated with hair follicles – these can make your hair stand up Hypodermis (also called subcutaneous layer) o Primarily fat o Adipose (another term for fat) o Some blood vessels o Insulation Main functions of integumentary system 1. Protection 2. Sensory organs 3. Helps to regulate body temperature o Insulation and sweat o Blood vessels – muscles can expand (dilate) or contract to control blood flow which also affects temperate – blood carries heat Skeletal System (handout 1) o Endoskeleton (skeleton on the inside) o 4 mains parts of the skeletal system 1. Bones 2. Cartilage Some cartilage functions to absorb shock Reduces friction in our joints Keeps body parts in shape – ears, nose 3. Ligaments Basic function is to connect bone to bone 4. Tendons Basic function is to connect muscle to bone Connects one muscle to another muscle o Bones Comprised of protein coated by minerals (calcium and phosphorous) Prefix “Osteo” = bones Functions of the cells inside our bones 1. Secrete the protein collagen o Like a network or mesh to make the fibers o Important to have vitamin C – helps enzymes produce collagen o If you don’t take in enough vitamin C = you get scurvy o Scurvy – don’t get collagen to parts of your body, bones don’t work well, don’t heal very well o Vitamin B is also important 2. Once the protein fibers are there they can be coated with calcium and phosphorus o Vitamin D is needed for this step – helps you absorb calcium from the digestive tract 3. Remove and replace the bone tissue o Bones don’t live forever o Older people have weaker bones The more you exercise the stronger your bones will be Problems that occur in the bones Arthritis o Refers to the inflammation in the joint – becomes inflamed o Most common type is Osteoarthritis (bone arthritis) Results from the breakdown of cartilage in the joints Usually in the hips or the knees, places that carry our weight Also happens if a joint is damaged Usually one hip or one knee - not the whole body o Another type is Rheumatoid arthritis Result of an autoimmune disease – your own immune system attacks the system in the joints– affects both sides of your body Osteoporosis o Thinning of the bones – become more porous – not as strong o Usually occurs over several years Muscles (handout 2) o Muscle cells are cylindrical – they join end to end together o As they join together, they keep their nucleus and everything – they just loose their membrane and join together o Muscles do their job by contracting (getting shorter) o Muscles come in pairs – one to raise and one to lower o Within the fibers are proteins Proteins = muscle filaments 2 important ones Actin Myosin o Sliding filaments – slide past each other to contract o Mitochondria – lots in our muscle cells – where we get our ATP o Endoplasmic reticulum – also in muscle cells – sometimes called sarcoplasmic This stores calcium o “Sarco” = muscles o How muscles contract **– See diagram on handout 1. Nerve impulse reaches the muscle fiber and causes calcium to be released from the endoplasmic reticulum 2. The calcium reacts with a protein and uncover binding sites on the actin filament 3. The myosin head attaches to the actin and forms a connection called a cross bridge 4. The myosin filament is going to pull the actins toward each other 5. An ATP molecule attaches to the myosin head and it breaks the cross bridge – the muscle can relax o Weight training can increase muscle mass by increases the fiber thickness o Weight training can also add new fiber to a muscle to increase mass o Types of muscle fibers 1. Slow (=type I) fiber ?
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