1 BIOLOGY Biology: the study of life Organisms: all living things There have been different views of life throughout history. 1. vitalism: living things exist because they have been filled with special forces, called ethers, which bring nonliving things to life Vitalism was the main view of life for about 2000 years until the Dark Ages, when the idea of spontaneous generation came around. 2. spontaneous generation: a theory stating that living organisms are produced from nonliving matter and ethers examples: maggots from rotting meat mice from old rags geese from river banks 1668 – Francesco Redi tests spontaneous generation. Redi thought that maggots came from flies, not from ethers. So he put some rotting meat in jars. 1. When the jars were left open maggots appeared (Both flies and ethers could get into the jar. What does this show?) 2. When the jars were sealed no maggots (Neither the ethers nor the flies could get into the jar. What does this show?) 2 3. When the jars were covered with cloth no maggots (Ethers could get in but flies could not. What does this show?) Redi’s experiment supported another theory that eventually replaced spontaneous generation biogenesis. 3. biogenesis: principle that life comes only from life “bio” = life “gen” = to make, produce Each type of living organism produces more of its own kind. But it wasn’t as if everyone let go of spontaneous generation and immediately embraced biogenesis. In fact, Redi’s work and conclusions were questioned and tested for the next 200 years. Background info: Microorganisms (bacteria, protists, etc.) were first observed around the same time as Redi was completing his maggot experiments. John Needham – mid 1700’s – English scientist claimed that spontaneous generation could occur under the right conditions Needham sealed a bottle of gravy and heated it. He claimed that the heat would kill any living things in the gravy. After several days, the gravy was teeming with microorganisms. Needham’s (incorrect) conclusion: The microorganisms only could have come from the gravy itself. 3 Rebuttal of Needham’s Work: Lazzaro Spallanzani – Italian scientist He thought that Needham had not heated his samples of gravy to a temperature high enough. Spallanzani boiled 2 flasks of gravy. He assumed that boiling would be enough to kill any microorganisms already in the gravy. Immediately after boiling, he sealed one of the flasks of gravy. The other was left open. After a few days, the open jar was full of microorganisms. The sealed jar had none. Spallanzani’s Conclusion: Gravy did not produce microorganisms. The microorganisms in the open jar had come from microorganisms in the air that had multiplied in the gravy. Despite Spallanzani’s work, some scientists still continued to support spontaneous generation well into the 1800’s. They argued that air contained a “life force” necessary for generating life, and therefore Spallanzani’s work was not conclusive. Louis Pasteur – 1864 – French scientist Designed a flask to settle the argument. The flask had a long curved neck. Air could get in, but microorganisms from the air could not make their way through the neck into the flask. Broth was boiled in this flask and without being sealed, it remained free of microorganisms for an entire year. As long as it was protected from 4 microorganisms, the broth remained free of living organisms. After one year, Pasteur broke off the curved neck of the flask, and the broth quickly filled with microorganisms. Pasteur’s experiment finally convinced other scientists that spontaneous generation was incorrect. It also provided very strong support for biogenesis. Louis Pasteur’s Test of Spontaneous Generation Broth is boiled. Broth is free of microorganisms for one full year. Curved neck is is removed. Broth is teeming with microorganisms. Side Note: We’ve been talking about hypotheses and theories. The word “theory” has a different meaning in science than in other areas. In science, a theory is a well tested explanation that unifies a broad range of observations. Theories are extremely well supported by vast amounts of experimentation, data collection, and scrutiny. It is not an “educated guess” like a hypothesis. 5 As more information is gained with advances in technology and further research, a theory is constantly analyzed, reviewed, and if necessary, revised. Properties of Life I. Living things are made up of units called cells. II. Living things reproduce. III. Living things are based on a universal genetic code. IV. Living things grow and develop. V. Living things obtain and use materials and energy. VI. Living things respond to their environment. VII. Living things maintain a stable internal environment. VIII. Taken as a group, living things change over time. We’re going to take a brief look at each one of these properties and later in the course, take a much deeper look at some of them. Remember, every textbook you pick up could have a different list. There is no set list of properties that is universally accepted. I. Living things are made up of cells. Cell – collection of living matter enclosed by a barrier that separates the cell from its surroundings; basic unit of all forms of life A. Cells can grow, respond to the environment, and reproduce; they are complex and highly organized. B. Organisms can be made of one cell or many cells. 1. unicellular – “single celled” – organisms consisting of only one cell 6 2. multicellular – “many celled” – organisms consisting of hundreds, even trillions of cells a. often has a diversity of cells with different functions b. sizes and shapes of cells differ also within the organism II. Reproduction A. All organisms produce new organisms through reproduction. B. Two basic kinds of reproduction: 1. sexual reproduction: a. cells from 2 different parents unite to produce the first cell of the new organism b. the majority of multicellular organisms use sexual reproduction 2. asexual reproduction: a. a single parent reproduces by itself b. there are many different ways that asexual reproduction can happen a single celled organism divides in half to form 2 new organisms a portion of an organism splits off to form a new organism III. Based on a Genetic Code A. Traits are inherited from parent to offspring. In asexual reproduction, parents and offspring have the same traits. In sexual reproduction, offspring are different from their parents, within limits. 7 B. DNA, or deoxyribonucleic acid, is the molecule that holds the directions for these patterns of inheritance. C. Every single living organism has DNA, the genetic code. IV. Growth and Development A. All living things grow during at least part of their lives. growth – increase in size B. Multicellular organisms also go through a process called development. 1. As cells divide in early stages of life, they change in shape and structure to form cells such as liver cells, brain cells, lung cells, etc. 2. This process is called differentiation (also called cell specialization) – process in which cells become specialized in structure and function V. Need for Materials and Energy A. To grow, develop, reproduce, and just to stay alive, living things need energy and materials. 1. metabolism: set of chemical reactions through which an organism builds up or breaks down materials as it carries out life processes 2. Organisms have many different ways of obtaining energy from their environments. a. plants, some bacteria, most algae – photosynthesis 8 b. other organisms eat those organisms that use photosynthesis c. There are other chemical ways besides photosynthesis to get energy from the environment, but they are not very common. e.g. chemoautotrophs VI. Response to the Environment A. Organisms detect and respond to stimuli in the environment. 1. stimulus (plural stimuli) – a signal to which an organism responds 2. internal stimulus – comes from within the organism e.g. hungry feeling when sugar levels are low 3. external stimulus – environment outside the organism gives a signal e.g. sunlight amounts, temperatures, gravity VII. Maintaining an Internal Balance A. Though conditions in the environment can vary widely, internal conditions for organisms must be kept fairly constant e.g. temperature, hydration. 1. homeostasis – process by which organisms maintain a relatively stable internal environment 2. often involves internal feedback systems e.g. too hot – body sweats to cool itself too cold – body shivers to produce heat 9 VIII. Evolution A. Although individual organisms go through changes, the basic traits they inherited from their parents do not - eye color, skin color, etc. 1. However, as a GROUP, any given kind of organism can evolve, or change over time. 2. It takes a very long time for change to appear, hundreds, thousands, even millions of years. B. The ability for a group of organisms to change over time is invaluable for survival in a world that is always changing. How might global warming affect evolution? Branches of Biology and the Organization of Life Life has many different levels of organization. All of them are open to study and have different specialties associated with them. The following section is a hierarchy, or arrangement, of these levels of life. 1. atoms & molecules: Atoms are the smallest parts of ALL MATTER, living or nonliving. Molecules are groups of atoms and have different properties than the atoms by themselves. 2. cell: made up of groups of atoms and molecules; smallest unit of life 3. tissue: group of similar cells that perform a specific function; examples – muscle, bone, blood 10 4. organ: group of tissues that work together to perform closely related functions ex. – heart, leaves, kidneys 5. organ system: group of organs working together to perform a specific function; ex. digestive, circulatory 6. organism: an individual living thing 7. population: group of organisms of one type that live in a particular area ex. snapping turtles in Farmer Smith’s pond Yellow bellied sapsuckers living in Raccoon Creek State Park 8. communities: all of the populations that live together in a defined area ex. the lawn in your front yard – worms, ants, beetles, grass, fungi (BUT NOT the water, soil, minerals, sunlight, and rain) 9. ecosystem: the community and its nonliving surroundings 10. biosphere – the parts of the Earth that contain all ecosystems 11 Chemistry of Life Inorganic and organic compounds – life needs some of each. Organic: includes most compounds that contain carbon; usually associated with living things example: calcium carbonate CaCO3 Inorganic: compounds that generally don’t contain carbon example: salt (sodium chloride) NaCl Organisms are composed of 4 major classes of macromolecules (big molecules) plus water. 1. Proteins: made of amino acids functions: give structure to the body; speed up chemical reactions Note: Proteins that speed up chemical reactions are called enzymes. Not all proteins are enzymes. 2. Lipids: fats, waxes, steroids functions: store energy; make up a part of membranes; act as hormones 3. Carbohydrates: sugars, starches function: source of energy 4. Nucleic Acids: DNA and RNA functions: contain genetic information help to make proteins 12 Other chemistry affecting life: pH Solutions may be acidic, basic, or neutral. It depends on how many hydrogen ions (H+) there are compared to how many hydroxide ions (OH ) there are. Ion: an atom with an electrical charge due to a loss or gain of electrons pH scale: standard measurement of concentration of H+ ions in solution The pH scale ranges from 0 to 14. 0 up to 7 is acidic 7.0 = neutral above 7 to 14.0 is basic pH is important because it affects the rates of chemical reactions, often making them happen very fast or very slow depending on the reaction and how the pH changes. *Be sure to study the diagram pages about ions and atoms! I. Microscopes A. Two main types 1. light microscope: produces magnified images by focusing visible light rays 2. electron microscope: produce magnified images by focusing beams of electrons B. Two main problems in making microscopes 1. What is the instrument’s magnification? a. how much larger can it make an object appear than its real size? 2. How sharp an image can the microscope produce? 13 C. Light Microscopes 1. most commonly used 2. magnification is about 1000x 3. compound light microscope: allows light to pass through the specimen (what you’re looking at) and uses 2 lenses to form an image a. can view dead organism and their parts b. can view some tiny organisms and cells while living 4. Methods to improve using a light microscope a. chemical stains to show specific structures in cells and other specimens b. using video cameras and computer processing to produce moving 3D images 5. Main advantages: a. very affordable b. easy to use 6. Main disadvantages: a. magnification is very limited b. images can often be grainy, poor quality D. Electron Microscopes 1. primarily used to see extremely tiny objects 2. magnification is vastly greater than light microscopes 3. two main types of electron microscopes a. transmission electron microscopes (TEMs) shine a beam of electrons through a thin specimen can reveal lots of detail inside the cell 14 samples must be preserved and dehydrated (nothing living) b. scanning electron microscope (SEMs) – scans a narrow beam of electrons back and forth across the surface of a specimen produce realistic and detailed 3D images of the surfaces of objects the images are often quite surprising in their details like TEMs, samples must be preserved and dehydrated 4. Main Advantages a. pictures are spectacular b. the magnification is fantastic 5. Main Disadvantages a. extremely expensive b. need extensive training to use E. In the 1990’s, scientists perfected a new type of microscope, the scanning probe microscope. 1. produces images by tracing the surfaces of samples with a fine probe 2. now possible to view single atoms 3. can operate in ordinary air (SEMs and TEMs need a vacuum) and can show samples in solution 4. revolutionizing what and how we study many small particles 15 Cell Theory Before the invention of the microscope, people knew only about organisms that they could see with the unaided eye. Late 1500’s: microscope invented 1590: Zacharias Janssen invents the 1st compound microscope early microscopes were used as toys 1665: English physicist Robert Hooke used a microscope to look at cork. He called the empty spaces in rows “cells” because they reminded him of the tiny rooms in a monastery (which are also called cells). Scientists began using microscopes for investigating everything. 1674: Anton van Leeuwenhoek (Dutch) – 1st person to see living organisms under the microscope; examined things like blood and pond water Leeuwenhoek called the tiny creatures he saw “animalcules” which means “little animals” 1838: German botanist Matthias Schleiden concluded that all plants are made of cells 1839: German zoologist Theodore Schwann concluded that all animals are made of cells; he later concluded that all living things are made of cells 1855: German doctor Rudolf Virchow reasoned that new 16 cells only come from already existing cells The ideas of Schleiden, Schwann, and Virchow make up what is known as the cell theory. It has 3 main points: 1. Cells are the basic units of life. 2. All organisms are made of one or more cells. 3. New cells are produced from existing cells. 17 Parts of the Cell Cell structure is one way in which organisms differ from each other. For example, animal cells have things in them that plant cells do not, and muscle cells have structures in them that aren’t found in blood cells. But there are certain features that are common to most cells. I. Cell Membrane: A. cell membrane: a thin layer of lipids and proteins that separates the cell’s contents from the outside environment very thin: 10,000 stacked = thickness of a page 1. function: controls what enters and leaves the cell 2. composition: mostly phospholipids and some proteins B. Phospholipids look like this: phosphate head is hydrophilic (“water loving”) lipid tails are hydrophobic (“water fearing”) C. Cell membranes consist of 2 phospholipid layers, called a bilayer. The phosphate heads face the watery fluids inside and outside of the cell. The lipid tails are sandwiched inside the bilayer. 18 D. Embedded in this bilayer are 3 different kinds of proteins. 1. channel protein: allows some molecules to pass through the membrane shaped like a doughnut; only certain molecules are able to go through 2. receptor proteins: transfer information from the world outside the cell to the inside of the cell look like boulders How do they work? The end of the receptor protein that sticks out from the cell surface has a special shape that will hold only one particular type of molecule. When a molecule of the right shape comes along, it causes changes at the other end of the protein, which causes other responses inside the cell. 3. marker proteins: act as name tags for cells which can be used for identification and organization long, thin proteins often with carbohydrates on their surfaces The cell membrane is very complex. It is fluid (flows like a liquid). And you know it’s made of different pieces that can move around in the membrane. These properties have given this view of the cell membrane’s structure a certain name: the fluid mosaic model 19 II. The Nucleus A. function: control center of the cell; surrounded by a membrane called the nuclear membrane Most (but not all) cells have a nucleus, some cells even have more than one. NB: ALL cells contain DNA, but the DNA isn’t always located in a nucleus. B. The nucleus contains DNA (deoxyribonucleic acid), which carries all of the instructions for cell activity. a. Usually the DNA is in a long strand called chromatin. b. However, during cell division, the chromatin coils into thick chromosomes. C. A nucleus (plural = nuclei) usually contains a nucleolus (plural = nucleoli). The nucleolus makes ribosomes (which are small parts of the cell that make proteins). D. The nucleus is used to classify cells into 2 types: 1. prokaryotic cells: cells that never contain a nucleus still have DNA but it’s not in a special compartment like the nucleus organisms whose cells are prokaryotic are called prokaryotes 20 2. eukaryotic cells: always or usually contain a nucleus organisms whose cells are eukaryotic are called eukaryotes BACTERIA & THEIR RELATIVES ARE PROKARYOTES. ALL OTHER ORGANISMS ARE EUKARYOTES. III. Cytoplasm A. cytoplasm: everything inside the cell membrane except the nucleus ( in eukaryotic cells) or the DNA (in prokaryotic cells) 1. made of 2 things: cytosol and organelles cytosol: jellylike mixture that consists mostly of water, along with proteins, carbohydrates, and other organic compounds organelles: structures that work like miniature organs, carrying out the specific functions in the cell In eukaryotic cells, most organelles are surrounded by membranes. In prokaryotic cells, there are no membrane bound organelles (with one exception ribosomes). 21 IV. Cytoskeleton A. Definition: a network of protein filaments within some cells that helps the cell maintain its shape and is involved in many forms of cell movement B. Two main parts of cytoskeleton – microfilaments and microtubules 1. Microfilaments: threadlike structures made of a protein called actin a. Microfilaments form extensive networks and produce a tough, flexible framework that supports the cell. b. They also help cells to move – assembly and disassembly of microfilaments is responsible for cells being able to crawl along surfaces 2. Microtubules: hollow structures made up of proteins called tubulins a. Microtubules help the cell maintain its shape. b. They are very important in cell division (form the mitotic spindle). c. They also help to build projections on the cell surface like cilia and flagella, which are used to move the cell. d. In ANIMAL CELLS ONLY, microtubules form centrioles. Located near the nucleus, the centriole helps to organize cell division. 22 Organelles of Eukaryotic Cells 1. mitochondria: the “powerhouse” of the cell function: . release the energy in food by breaking down food molecules 2. endoplasmic reticulum (ER): the “highway” of the cell; it’s a system of membranes used to transport materials around the cell and to process certain macromolecules There are 2 types of ER: a. rough ER: has ribosomes attached to it b. smooth ER: does not have ribosomes attached 3. ribosomes: structures where proteins are made; can be attached to the ER or free floating in cytoplasm 4. Golgi Apparatus: the “post office” of the cell; it’s a series of membranes stacked like pancakes function: adds the finishing touches on newly made molecules and then packages those molecules and sends them out into the cell 5. lysosomes: small sacs that contain enzymes used to digest food particles 6. chloroplasts: make food from sunlight, water, and carbon dioxide through photosynthesis 23 CHLOROPLASTS ARE ONLY FOUND IN THE CELLS OF GREEN PLANTS AND ALGAE!!! 7. vacuoles: membrane bound spaces that hold or store wastes, water, and nutrients very large in plant cells, small or not found in animal cells The 7 organelles just described are found only in eukaryotic cells, with the exception of ribosomes. Ribosomes are found in both eukaryotic and prokaryotic cells. All other organelles are found ONLY in eukaryotic cells. Kinds of Eukaryotic Cells: Animal Cells vs. Plant Cells Plant cells have a few extra organelles and structures: chloroplasts, large vacuoles, and the cell wall cell wall: extra layer that lies outside the cell membrane; made mostly of cellulose (a type of sugar) function: gives strength and rigidity to the cell In addition to plants, the cells of algae, fungi, and some bacteria have cell walls. 24 Comparing Prokaryotic and Eukaryotic Cells Prokaryotic Structure Cell Membrane Cell Wall Nucleus DNA Ribosomes Endoplasmic Reticulum Golgi Apparatus Lysosomes Vacuoles Mitochondria Chloroplasts Bacteria & Relatives Eukaryotic Plant Cell Animal Cell 25 ENDOSYMBIOTIC THEORY How did eukaryotic cells develop? This was a question that was on the minds of many scientists. Over 100 years ago, the idea of endosymbiotic theory was proposed. But it wasn’t until Lynn Margulis of Boston University championed the theory in the 1960’s that it became mainstream thinking. Endosymbiotic theory: theory that eukaryotic cells formed from a symbiosis among several different prokaryotic organisms Symbiosis: any relationship in which two species live together closely As scientists studied eukaryotic cells, they noticed a few things: 1. some organelles had membranes just like prokaryotes (mitochondria, chloroplasts) 2. some organelles had their own DNA that was very similar to prokaryotic DNA 3. some organelles had their own ribosomes whose size and structure closely resemble those of prokaryotes 4. some organelles divided separately from the rest of the cell (used same way to divide as prokaryotes) They came up with the idea that a much larger cell had engulfed (surrounded) a bacterium and instead of being digested as food, that bacterium remained inside the cell. Eventually, these engulfed bacteria lost their ability to live on their own and became organelles within the larger cell. The result was a eukaryotic cell. 26 Size of Cells If you compare cells from an elephant with cells from a mouse, they are very much alike in shape, structure, and size. Almost all eukaryotic cells are about 10 m to 100 m big. (m = micrometer) Size often depends on the cell membrane. Cells obtain nutrients and get rid of wastes through the cell membrane. The bigger the cell, the more membrane that is needed. Problem: As cells get bigger, there is less surface area of the cell (where the membrane is) for each part of volume (where the cytoplasm with the organelles is located). As cells increase in size, their volume increases more rapidly than the surface area does. With a really big volume, it’s very hard for the cell to transport things in and out of the cell fast enough. Another factor is the nucleus. The nucleus can only control so much cytoplasm and keep up with the cell’s activities. So the cell has to stay small to survive. 27 Diffusion and Osmosis Cells need a way to move water molecule, food particles, and other materials through their membranes. Some things, like water, pass through freely. Others have to be carried through channels. Terms to know and understand Solute: substance that is dissolved in a solvent to make a solution Solvent: substance in which a solute is dissolved to form a solution e.g. saltwater – salt is the solute, water is the solvent I. Diffusion: mixing of 2 substances by the random motion of molecules A. molecules move from an area of high concentration to an area of low concentration B. When the molecules are spread out evenly, diffusion stops because there is no longer a concentration gradient concentration gradient: the difference between the concentration of a particular molecule in one area and the concentration of the same molecule in an adjacent area (adjacent = beside) When the concentration of the solute is the same throughout a system, the system has reached equilibrium. 28 II. Osmosis: diffusion of water across a semipermeable membrane (semipermeable = only certain things get through) Water moves across a membrane from a region of high concentration of water to an area of low concentration of water III. Facilitated Diffusion A. facilitated diffusion: another type of movement of particles where particles diffuse across cell membranes with the help of proteins in the membranes 1. particles always move DOWN the concentration gradient going from high concentration to low concentration facilitated diffusion increases the rate that some particles cross the cell membrane 29 Passive Transport vs. Active Transport The processes of diffusion, osmosis, and facilitated diffusion DO NOT require any energy to be used by the cell. For this reason, these 3 processes can be called passive transport. When a cell uses energy to move particles across the membrane, those processes can be described as active transport. IV. Active Transport A. Sometimes the cell has to move things against (or up) the concentration gradient, going from low concentration to high concentration. This requires energy, so it’s called active transport. 1. Like facilitated diffusion, active transport uses proteins to move particles, but now it takes energy. 2. example: sodium – potassium ion pump uses active transport to keep the right balance of sodium and potassium ions in and out of the cell This balance is crucial for muscle contraction, nutrient absorption, and nerve pulse transmission. V. Bulk Transport A. Bulk transport is used to move large particles in and out of the cell. During bulk transport, large particles move across the cell membrane by being packaged in membrane-bound sacs. 30 B. There are 2 types of bulk transport: exocytosis and endocytosis 1. Exocytosis: material is moved from inside the cell to outside the cell ( “exo” = exit ) a. wastes and cell products are packaged by the Golgi body in sacs called Golgi vesicles b. the vesicles then fuse with the cell membrane and the materials are secreted outside of the cell (outside the cell) #1 #2 #3 Vesicle 2. Endocytosis: material is brought into the cell a. a portion of the cell membrane surrounds a particle that is outside of the cell b. the cell pinches off a saclike portion of its outer membrane to form a new vesicle once inside the cell, the vesicle can fuse with other organelles or release its contents into the cytoplasm 31 (outside the cell) #1 #2 inside the cell (cytoplasm) #3 3. Two types of endocytosis: a. pinocytosis: cell membrane encloses a droplet of fluid to bring into the cell b. phagocytosis: cell engulfs a solid substance to bring into the cell human white blood cells use phagocytosis to engulf and destroy bacteria and other invaders of the body 32 Hypertonic, Hypotonic , and Isotonic Solutions 1. Hypertonic solution: the concentration of solutes (in the solution) is HIGHER than the concentration of solutes inside the cell water diffuses OUT of the cell example: potatoes in salt water – water left the cells and the potatoes became very flexible (no water to make the cells rigid) 2. Hypotonic Solution: concentration of solutes (in the solution) is LOWER than the concentration of solutes inside the cell water diffuses INTO the cell example: potatoes in distilled water – water came into the cells, causing the cells to swell and making the potato rigid 3. Isotonic Solution: concentration of solutes (in the solution) EQUALS the concentration of solutes inside the cell 33 ENERGY Life depends on energy, which is stored in the chemical bonds of energy storing compounds. One of the most important energy compounds is ATP (adenosine triphosphate). I. ATP A. made of a sugar, adenine, and 3 phosphates 1. ATP releases chemical energy whenever a bond holding a phosphate is broken A A S P P P Energy released when bond is broken Adenine 2. The result is ADP – adenosine diphosphate A Adenine A S P P B. ATP is used for doing work in the cell 1. provides energy for the mechanical functions of cells 2. provides energy for active transport of molecules and ions across the cell membrane 3. used in making and breaking down large molecules 34 C. Because cells are constantly at work, they need an endless supply of ATP 1. ATP comes from attaching a phosphate to an ADP 2. The cycle of making and breaking down ATP molecules occurs constantly in cells 10 million new ATP molecules are made EVERY SECOND in the cell II. Sources of Energy Organisms are classified into 2 groups according to how they get food: autotrophs and heterotrophs A. Autotrophs: can make their own food Ex. green plants use CO2 , water, and sunlight to make food 1. the foods made by autotrophs are mainly carbohydrates such as glucose 2. autotrophs are called producers because they produce their own food 3. producers are vital to the world: they are a source of food for all other organisms, directly or indirectly B. Heterotrophs: organisms that can’t make their own food 1. must eat, or consume, other organisms for food 2. heterotrophs are called consumers 35 I. Photosynthesis Photosynthesis is the process by which autotrophs convert sunlight into a usable form of energy A. autotrophs that perform photosynthesis contain pigments 1. pigment: molecule that absorbs certain wavelengths of light and reflects others whatever wavelength is reflected is the color you see 2. chlorophyll: pigment that is used in photosynthesis absorbs blue, violet, and red light reflects green light, gives the green color of many plants B. In many autotrophs, the pigments (including chlorophyll) are in specialized organelles chlorophyll is located in the chloroplasts II. Photosynthesis in a Nutshell A. 6 CO2 + 6 H2O carbon dioxide water Light energy C6H12O6 + 6 O2 glucose oxygen 1. The energy stored in glucose is used later to produce ATP. 36 B. Photosynthesis does NOT happen all at once. There are 2 distinct stages. 1. The first stage is called the light dependent reactions. a. begins with light hitting the chloroplast b. water is split into hydrogen ions, oxygen, and excited electrons oxygen diffuses out of the chloroplast NADPH and ATP are produced (NADPH is another energy storing molecule) LIGHT REACTIONS OCCUR IN THE THYLAKOID. 2. The second stage of photosynthesis is called the Calvin Cycle. (also called the “dark reactions”) a. the ATP and NADPH from the light dependent reactions are used in the Calvin cycle b. the Calvin cycle uses CO2 to produce sugar (glucose is a type of sugar) III. Details: The Light Reactions A. occur in different areas of the thylakoid called Photosystem I and Photosystem II, which are light collecting units of the chloroplast 1. Sunlight comes into Photosystem II and splits water into H+ ions (hydrogen ions), oxygen (O2), and energized electrons (e-- ). 37 — 2. The excited e go through the electron transport chain to Photosystem I. carrier molecules (of the e— transport chain) use the electrons’ energy to actively transport H+ ions from the stroma to the thylakoid IV. Calvin Cycle – Details (a.k.a. Dark Reactions) A. The Calvin Cycle : 1. Requires the products of the light dependent reactions 2. Requires the input of CO2 3. Takes place in the stroma of the chloroplast B. Process: 1. CO2 is used to build molecules of glucose 2. ATP and NADPH are used for energy and hydrogen (from light dependent reactions) 3. 1 molecule of glucose is made for every 6 molecules of CO2 in the cycle V. Now what? A. Photosynthesis gets glucose from the energy of the sun 1. autotrophs and heterotrophs convert glucose to ATP and use the ATP for energy 2. any glucose not used by the autotrophs right away is stored as starch 3. when autotrophs are consumed by heterotrophs, the starch is broken down into glucose 4. glucose is broken down to release energy in the process of CELLULAR RESPIRATION 38 Cellular Respiration *** All organisms rely on cellular respiration for the energy they need to carry out life functions. I. Cellular Respiration A. process of getting ATP molecules from glucose B. usually occurs in the mitochondria II. 2 types of cellular respiration: Aerobic and Anaerobic A. Aerobic respiration requires oxygen 1. produces 36 ATP molecules from each glucose molecule 2. has 3 distinct phases: a. glycolysis glucose 2 pyruvate + 2 ATP b. Krebs Cycle pyruvate Acetyl-CoA Krebs Cycle CO2 + NADH + FADH2 + ATP NADH and FADH2 are energy storing molecules. Since you get 2 pyruvate from each glucose, the Krebs cycle gets 2 more ATP. *** So far, glycolysis and the Krebs cycle have gotten 4 ATP. 3. Electron Transport: transfers energy in the electrons of NADH and FADH2 to ATP a. this is the part of aerobic cellular respiration that requires oxygen b. electron transport generates 32 ATP molecules **Aerobic respiration generates a total of 36 ATP molecules. 39 B. The other type of cellular respiration is anaerobic respiration (also known as fermentation). 1. releases energy from food molecules in the absence of oxygen 2. 2 types of anaerobic respiration: a. alcoholic fermentation b. lactic acid fermentation 3. In both types of anaerobic fermentation, only 2 ATP molecules are made from each molecule of glucose. C. Alcoholic Fermentation – Steps 1. glycolysis (just as in aerobic respiration) glucose 2 pyruvate + 2 ATP 2. pyruvate ethanol + CO2 This process is used to raise bread, make wine, and brew beer by using yeasts which perform alcoholic fermentation. D. Lactic Acid Fermentation 1. Animal cells can’t perform alcoholic fermentation, but some animal cells can convert pyruvate to lactic acid. Example: muscle cells switch to anaerobic respiration when there isn’t enough O2 from breathing, such as during strenuous exercise. Muscle fatigue and soreness is from a build up of lactic acid. 40 2. Steps of Lactic Acid Fermentation a. glycolysis: just like in aerobic respiration and alcoholic fermentation b. pyruvate + NADH lactic acid + NAD+ ____________________________________________________ Photosynthesis and Cellular Respiration: Webbing Activity WORD/PHRASE BANK Kreb’s Cycle Cellular Respiration Electron transport Get ATP and NADPH Photosynthesis Glycolysis Alcoholic fermentation Make glucose from CO2 Light reactions Dark reactions (Calvin Cycle) 36 2 Lactic acid fermentation Aerobic respiration Anaerobic respiration (fermentation) 41 Cell Division When a cell reaches its maximum size, the nucleus gives the signal for cell division. I. Cell Division Needed for 3 major life processes: 1. growth: increased number of cells 2. repair: mending skin, blood vessels, etc. 3. reproduction There are 2 types of cell division 1. mitosis: used for growth and repair, mitosis produces cells that are identical to the parent cell; parent and offspring cells have identical DNA (genetic material) a. used for asexual reproduction: process by which an organism simply duplicates its genetic material and splits into 2 separate, identical organisms 2. meiosis: special form of cell division; produces cells that are NOT identical to the parent cell a. used in sexual reproduction, which produces an offspring that has a combination of genetic material from 2 parent organisms b. the products of meiosis have only HALF the amount of DNA (genetic material) found in each parent cell 42 II. Mitosis process of cell division that gives 2 identical cells from one parent cell A. Cell Cycle 1. sequence of phases in the life cycle of a cell 2. covers the period of time from the beginning of one cell division to the beginning of the next cell division 3. the cell cycle has two parts: a. interphase (growth and preparation) b. cell division (mitosis) B. Interphase: 1. occurs between divisions 2. during interphase, the cell produces all of the material necessary for cell growth and for cell division 3. Interphase – longest part of the cell cycle (90%) 4. Includes replication (copying) of the genetic material before cell division a. DNA is in the form of chromatin (thin, fibrous strands) while it is being copied C. Stages of Mitosis: Prophase, Metaphase, Anaphase and Telophase 1. Prophase: chromatin condenses to form chromosomes (which are made of DNA) a. each species of organism’s chromosomes are unique – in size, shape, number, etc. 43 b. chromosomes usually occur in pairs examples: all humans have 23 pairs of chromosomes fruit flies have 4 pairs some plants have hundreds of pairs some molds have thousands of pairs c. each chromosome has been copied (during interphase) and the IDENTICAL chromosomes are called sister chromatids d. the sister chromatids are joined together at a point called the centromere sister chromatid (each half of the “X” is one) chromatin (interphase) chromosome (prophase) centromere e. also during prophase: nuclear membrane (around nucleus) and the nucleolus disappear; mitotic spindle forms (fibrous scaffolding inside the cell) 44 2. Metaphase: a. chromosomes are pulled to the center of the cell and begin to line up in the middle (if the cell was a globe, then chromosomes would line up on the equator) 3. Anaphase a. centromeres divide b. spindle fibers start to pull the sister chromatids apart 1. one of each pair goes to the poles of the cell 2. complete set of chromosomes at each end Think of chromosomes being pulled from the equator to the North and South Poles 4. Telophase a. 2 nuclei are formed b. nuclear membranes form around each set of chromosomes c. chromosomes uncoil chromatin d. mitotic spindle disassembles D. Cytokinesis – split cytoplasm 1. animal cells: cell membrane of the parent cell starts to fold inward to the center until 2 cells are formed from pinching the parent cell in half 45 2. plant cells: a cell plate forms in the middle of the cell a. cell plate consists of a double membrane b. a new cell wall forms between the double membrane of the cell plate c. the double membrane remains and forms part of the cell membrane of the 2 new cells ____________________________________________________ Vocabulary for Meiosis Gene: section of DNA that controls a particular trait or characteristic (ex. eye color) Chromosome: lots of DNA condensed; each chromosome contains lots of genes Homologous chromosomes: same length, size, and shape; code for the same traits but might have different versions of the genes for these traits Example: 2 homologous chromosomes carry the code for eye color one chromosome might have the gene for blue eyes while the other chromosome has the gene for brown eyes same traits (eye color), different versions (blue, brown) Our 23 pairs of chromosomes are 23 homologous pairs (46 chromosomes). 46 Diploid: di=2 ; genes are in pairs and therefore, chromosomes are in pairs (2 sets of chromosomes) Human cells are normally diploid: chromosomes are in pairs (23 pairs). Haploid: half of the normal number of chromosomes Humans: diploid 23 pairs 46 chromosomes haploid not pairs 23 chromosomes Symbols: n = number of sets of chromosomes 2n = diploid, 2 sets of chromosomes 1n = 1 set of chromosomes 47 Meiosis 1. Called reduction division because it reduces the number of chromosomes by half 2n (diploid) meiosis 1n 4n (haploid) (tetraploid) 6n meiosis 2n (haploid) meiosis 3n 2. Meiosis is used in sexual reproduction. 3. Results in 4 new haploid cells, called gametes. 4. Used for gametogenesis (process of making gametes) Two types of gametogenesis: 1. spermatogenesis : process of making sperm 2. oogenesis: process of making eggs 48 Homologous Chromosomes Further Explanation Homologous chromosomes are the same length, size, shape, and code for the same TRAITS. The location of these traits is the same. On the diagram below, locations are indicated with a solid black line on the chromosome. However, the specific GENES for these traits can be different or it can be the same. Homologous chromosomes are NOT IDENTICAL. Sister chromatids are identical. In the diagram below, notice that the TRAITS are written in green, while the GENES for those traits are written in blue. TRAIT TONGUE ROLLING GENE ROLLING TRAIT THUMB SHAPE GENE HITCHHIKER’S TRAIT EYE PIGMENT GENE NO PIGMENT TRAIT TONGUE ROLLING GENE NONROLLING TRAIT THUMB SHAPE GENE HITCHHIKER’S TRAIT EYE PIGMENT GENE NO PIGMENT 49 Structure of DNA Remember: genes control certain traits, genes are sections of DNA I. Structure of DNA (deoxyribonucleic acid) A. Made of nucleotides 1. nucleotides have 3 main parts a. sugar (deoxyribose) S b. phosphate group P c. nitrogenous base 2. 4 different nitrogenous bases can be used in a nucleotide a. adenine (A) b. guanine (G) c. cytosine (C) d. thymine (T) B. Watson and Crick – 1953 (published) 1. double helix shape (twisted ladder) 2. formed by 2 strands of nucleotides linked together a. sides of the ladder are sugar and phosphate b. “rungs” of ladder are 2 bases bonded together ***** Adenine always bonds with Thymine! ***** Cytosine always bonds with Guanine! 50 DNA S S P P S S P P S S P P S S P P S S Adenine = Guanine = Thymine = Cytosine = Four Nitrogenous Bases Nucleotide = sugar, phosphate, base 4 different nucleotides: S S P P S S P P 51 Names and Dates: Supplement to DNA Notes Watson, Crick and Maurice Wilkins received the Nobel prize in 1962 for their work on DNA structure and how the DNA molecule can function to carry genetic information. February 28, 1953: Crick announces in the English pub “The Eagle” that he has found “the secret of life.” Watson and Crick published their work later in 1953. Rosalind Franklin: 1. She worked in the same area of Cambridge University that Watson and Crick did but was in a different college 2. She performed research on the DNA molecule using X-ray crystallography to take pictures; this research was the basis of the double helix shape to DNA that Watson and Crick are so famous for discovering. The idea of a helical shape for DNA was all Rosalind’s. Without her work, Watson and Crick would probably have not figured out the DNA molecule before anyone else. 3. She did not like to share her work and her research was “stolen” by the Watson/Crick/Wilkins lab (they went in and examined everything without her permission), including the famous “Photo 51.” 4. She was never acknowledged for her contribution to the structure of DNA until Watson described her as a horrible person in his book “Double Helix” (published 1968). Everyone who was familiar with the DNA story objected and the fact of Rosalind’s work being so important was brought to the public’s attention. 52 5. She died at age 37 in 1958, before Watson publishes his book and before the Nobel Prize is awarded. She was not mentioned. Maurice Wilkins: Ran the lab that Watson and Crick worked in; oversaw most of their work; received the Nobel Prize with Watson and Crick in 1962 Alfred Nobel: Was a major business man in mid to late 1800’s; invented dynamite and made his huge fortune from it; his brother died and a newspaper printed Alfred’s obituary by accident and called him the “merchant of death” (dynamite killed a lot of people in demolition accidents); Alfred hated the thought of his legacy being such a terrible one so when he died he left most of his money for the establishment of the Nobel Prizes; it’s the highest award a person can receive and covers lots of different categories (literature, physics, medicine, peace...) Chargaff: 1. He studied DNA and analyzed how much thymine, cytosine, adenine and guanine were in each sample. He found that the amounts of thymine and adenine were always equal, and the amounts for cytosine and guanine were always equal. 2. Chargaff figured that adenine and thymine bond together as do cytosine and guanine. The result was Chargaff’s Rule: A=T and C = G 53 I. DNA Replication A. very important that DNA be able to copy itself 1. needed for mitosis and meiosis 2. process of DNA copying itself is called replication B. Steps of Replication 1. DNA double helix unzips so that the 2 strands of DNA are separated each separated strand will be a pattern for a new strand of DNA 2. New strands of DNA are formed from single nucleotides in the nucleus called free nucleotides *3. DNA polymerase (an enzyme) matches the bases on the parent strand (the original, unzipped part) one by one with the new bases of free nucleotides 4. Strong sugar-phosphate bonds form between nucleotides that are next to one another, creating a new “backbone" eventually 2 new double helixes are formed, having 1 parent strand and 1 new strand 54 I. DNA and RNA A. Both DNA and RNA (ribonucleic acid) are nucleic acids 1. there are structural differences between them DNA Double stranded RNA Single stranded Base pairs: A–T C–G Base pairs: C–G A–U U=uracil; replaces thymine Deoxyribose is the sugar Ribose is the sugar 2. RNA is used for making proteins a. mRNA – messenger RNA used to send information from DNA to the ribosome b. tRNA – transfer RNA used to match mRNA with the right amino acids for making proteins (remember – proteins are made of amino acids strung together like the beads of a necklace) II. Protein Synthesis A. protein synthesis is the process by which proteins are made; it has 2 parts: transcription and translation 55 B. transcription: genetic information from a strand of DNA is copied into a strand of mRNA transcribe means to copy Steps in Transcription: 1. an enzyme separates (unzips) a section of DNA 2. unattached RNA nucleotides are linked with the matching bases on the DNA strand to form a molecule of mRNA 3. after a section of DNA is transcribed, the next section is exposed (unzipped) and the process repeats until DNA signals mRNA synthesis to end C. In prokaryotes, mRNA goes right to the ribosome for translation to begin In eukaryotes, the mRNA is first spliced inside the nucleus. 1. splicing: removing extra parts of mRNA that aren’t needed After the mRNA has been spliced, it leaves the nucleus and travels to the ribosome for translation. D. Translation: process of converting the information in the mRNA to a chain of amino acids (protein) 1. in the cytoplasm, one kind of amino acid is attached to each tRNA; a section of mRNA is attached to a ribosome 56 2. tRNA’s being amino acids to the ribosome, and the amino acids are added one at a time to the growing chain (tRNA transfers amino acids to the ribosome) Each tRNA anticodon pairs with a complementary mRNA codon, making sure that amino acids are added in the coded sequence 3. codon – 3 base section of mRNA; most carry a code for a specific amino acid example: UCG codes for tryptophan anticodon – sequence of 3 bases found on tRNA; each tRNA has only ONE anticodon which complements a specific mRNA codon Anticodons and codons fit like plugs into a socket. 4. several codons on mRNA have a different purpose they don’t code for regular amino acids; instead, they are start and stop codons which signal a ribosome to either start or stop translation. They are located at the beginning and end of an mRNA code for a particular protein. 5. Codes for amino acids are universal for all forms of life. They are the same for mice, bacteria, and all other living organisms, even viruses. 57 Genetics I. Genetics A. genetics: scientific study of heredity 1. we have known for centuries that traits are passed from parents to offspring 2. we didn’t know how the traits were determined B. recall chromosomes and cell division 1. chromosomes are replicated and distributed to daughter cells 2. reproduction requires cell division and chromosome replication 3. we now know that traits are passed from parents to offspring in these chromosomes But the relationship between chromosomes and traits was not always understood II. Gregor Mendel (1822 – 1884) “Father of Genetics” A. Facts: 1. Austrian monk 2. Began his work in the 1860’s 3. Used mathematics in his study of the garden pea plant During Mendel’s time, most people thought that traits were a result of a blending of the parents’ traits. Mendel showed something different. III. Mendel’s Work A. worked for more than 8 years on his pea plant experiments, using more than 20,000 plants! 58 1. chose the pea plant for 3 reasons: a. structure of the pea flower (more later) b. presence of distinctive traits c. rapid reproductive cycle 2. these characteristics allowed Mendel to isolate and control variables, and to produce observable results that he could duplicate B. Structure of the Pea Flower 1. easy to self-fertilize (pollen from the anther fertilizes the pistil of the same plant) 2. through self-fertilization, able to get purebred plants a. purebred: any organism that receives the same genetic traits from both of its parents example: if you get the gene for attached earlobes from your mom AND from your dad, you are purebred for attached earlobes (both copies of the gene are the same) 3. the pea flower structure was also good for crossfertilization (fertilization using 2 different plants) a. produced hybrids: organisms that receive different forms of a genetic trait from each parent example: if you get the gene for attached earlobes from your dad and the gene for free earlobes from your mom, you are a hybrid for earlobe shape 4. Mendel studied 7 different traits in the garden pea plant, all of which were easy to observe 59 a. each of these traits has only 2 distinct forms (rather unusual) examples: pea pods are either yellow or green pea plant stems are either tall or short never an “inbetween” like medium height The Experiments I. Mendel began by using 2 different groups of purebred plants examining pea color A. he called this generation (the 2 purebred plants) the parental generation , or P generation the P generation was either purebred yellow or purebred green 1. He crossed these 2 parental plants to produce offspring, called the F1 generation (“F” stands for filial, which means offspring) P purebred green X purebred yellow F1 **2. The F1 generation all had yellow peas 3. Next, Mendel allowed the F1 generation to selffertilize, producing the F2 generation 4. In the F2 , ¾ of the plants had yellow peas and ¼ of the plants had green peas 60 B. What had Mendel expected to happen? 1. The blending hypothesis would predict greenishyellow (or yellowish-green) peas 2. Instead, the F1 generation plants all had yellow peas no green peas, even though one of the parents had green peas But when the F1 self-fertilized, the green peas came back in the F2 generation! The F2 generation had 75% plants with yellow peas and 25% of plants had green peas **** Ratio – 3 plants w/ yellow peas : 1 plant w/ green peas C. Mendel repeated the experiment for the other 6 traits 1. for each trait, he observed the same results in the F1 generation: all of the F1 plants showed only one form of the trait ex. P purebred tall X purebred short F1 all tall plants ____________________________________________________ P F1 purebred purple flowered X purebred white flowered all purple flowered plants 61 2. Mendel defined each form of the trait as either dominant or recessive. The dominant form appeared in the F1 generation, the recessive form did not appear in the F1 3. In the F2 generation of his experiments, Mendel always got 2 types of plants – 75% were the dominant form, 25% showed the recessive form *see diagram of Mendel’s experiments through the F2 II. Mendel’s Conclusions A. Mendel’s experiments proved that the blending hypothesis was wrong 1. never observed pea plants with mixtures of the 2 forms of the trait 2. Mendel reasoned that forms of a trait must remain separate in offspring B. Mendel hypothesized that each trait is controlled by a distinct “factor” 1. since there were 2 forms of each trait, Mendel realized that there must be at least 2 forms of each factor 2. He reasoned that for every trait, a pea plant must carry a PAIR of factors which could affect each other; When a trait is inherited, the offspring receives one factor from each parent. C. We now know that Mendel’s “factors” are genes 1. recall: most organisms have 2 copies of every gene and chromosome (homologous chromosomes) one copy from each parent 62 2. We refer to the different forms of Mendel’s factors as alleles Allele: distinct form of a gene If an organism has 2 different alleles for a trait, only one is expressed or visible Example: A person has an allele for free earlobes and an allele for attached earlobes, yet that person’s earlobe shape is just free. (only one of the alleles is expressed) Dominant allele: form of a gene that is fully expressed when 2 different alleles are present Recessive allele: form of a gene that is NOT expressed when paired with a dominant allele Mendel published an account of his experiments in 1866. His work was unrecognized for 37 years. Rediscovering Mendel Late 1880’s : a new staining technique allows chromosomes to be viewed for the first time Early 1900’s : Mendel’s work is rediscovered I. Walter S. Sutton – 1903 A. Sutton was observing stained cells through a microscope and realized that chromosomes behaved like Mendel’s factors 63 B. Developed the Chromosomal Theory of Heredity which states that the material of heredity is carried by the genes in chromosomes (remember – didn’t know that this “material of heredity” was DNA until the late 1940’s-early 1950’s, and didn’t know the structure of DNA until 1953) C. To explain and use the theory, a system of terms and symbols was developed. WE USE LETTERS TO REPRESENT ALLELES. But, how do you know which letters to use? Use the same letter for both forms of the trait because both dominant and recessive alleles are for the same trait. We just use capital and lowercase forms of the letters to show the difference. The dominant allele always determines the letter – the first letter of the dominant form of the trait is chosen and the dominant allele always uses an capital letter The recessive allele always gets a lowercase letter. Ex. pea color Yellow is dominant, green is recessive. We use the letter “Y” because it is the first letter in the dominant form (Yellow). The allele for yellow peas is represented by an capital letter “Y” The allele for green peas is represented by a lowercase letter “y” 64 D. Genotype and Phenotype 1. genotype: the genetic make-up of an organism a. includes both genes in a homologous pair of chromosomes examples: a plant purebred for yellow peas: __YY__ a hybrid plant for pea color: _ Yy___ a plant purebred for green peas: __ yy___ 2. phenotype: outward expression or appearance of a trait example: the hybrid with genotype Yy has the phenotype yellow peas (recall dominance) 3. Describing genotypes a. homozygous: the 2 alleles in a gene pair are the same examples: YY and yy “Mendel’s purebred plants were homozygous for pea color.” b. heterozygous: the 2 alleles for a trait are different examples: Gg, Yy, Pp “Mendel’s hybrid plants were heterozygous for pea color.” 65 Mendel’s Laws Mendel’s Laws A. basic rules of inheritance 1. there are exceptions (more on that later) 2. many traits do follow Mendel’s laws (called Mendelian traits) B. The Law of Segregation “Each pair of genes segregates, or separates, during meiosis.” 1. Because of segregation, half of an organism’s gametes contain one gene from a homologous pair and half of the gametes contain the other gene. C. The Law of Independent Assortment I. “Gene pairs segregate into gametes randomly and independently of each other.” 1. Mendel studied the inheritance of 2 traits at the same time Example: pea color and pea shape P purebred yellow round peas Genotype: ____YYRR__ X purebred green wrinkled peas Genotype: __yyrr____ F1 all plants had yellow round peas (self fertilized to get F2) F2 All possible combinations were produced: Yellow round peas Yellow wrinkled peas Green round peas Green wrinkled peas 66 The association of traits in a parent didn’t seem to matter. yellow wasn’t always with round green wasn’t always with wrinkled We could get combinations that were different from the parents. D. Law of Dominance “The dominant allele is expressed and the recessive allele can be hidden.” 1. a recessive allele is expressed only when an organism has NO COPY of the matching dominant allele Example: plant heterozygous for flower color Recall: purple is dominant over white Allele for purple flowers: ___P____ Allele for white flowers: ___p____ Genotype: ____Pp___ Phenotype: ___purple flowers____ 67 Probability: A. Scientists use probability to predict the phenotypes and genotypes of offspring in breeding experiments. 1. When you use fractions, percents, ratios, or decimals to predict the outcome of an event, you’re measuring probability. 2. In biology, Punnett squares are used to help predict the results of breeding experiments a. grid to organize genetic information b. shows probabilities B. A monohybrid cross (one trait, both parents are heterozygous) will give a 3 dominant : 1 recessive ratio in the offspring for Mendelian traits. Example: P tall Tt F1 T t X T TT Tt 3 tall : 1 short t Tt tt tall Tt Key: T= allele for tall t = allele for short 68 Genetics Problem Set-Up KEY (symbol here) (symbol here) P ♣ = allele for (dominant version of trait here) = allele for (recessive version of trait here) phenotype of 1st parent genotype of 1st parent F1 ♣ (if applicable) - X ♣ phenotype of 2nd parent genotype of 2nd parent ♣ Answer to the question in a box Also – If the sex of each parent is known (male, female) the symbols for the sex must be included in the parental generation and in the Punnett square. (see cloverleaf marks) Male: Female: 69 Answer Set-Up for Certain Genetics Problem Questions If a genetics problem asks you to “list (give, name) the genotypes and phenotypes of the offspring” there is a specific way to arrange your answer. So that it is clear in your answer as to what is a genotype and what is a phenotype, you must make a chart. For example, if you are asked to list the genotypes and phenotypes of the offspring for the following Punnett square: T t T TT Tt t Tt tt then your answer would be: genotypes phenotypes TT tall Tt tall tt short Also, if you are asked to give the “genotypic and phenotypic ratios of the offspring” you must identify which ratio is which. Using the same Punnett square from above, you would write: Genotypic ratio - 1 TT : 2 Tt : 1 tt Phenotypic ratio - 3 tall : 1 short 70 Notice that each is labeled and colons separate each part. Practice Single Trait Inheritance (STI) Problems 1. Cross a homozygous tall plant with a short plant. What percentage of the offspring will be tall? 2. Cross a plant hybrid for flower position with a plant that is purebred dominant for flower position. What fraction of the offspring will be heterozygous? 3. Cross two heterozygous plants using the trait pea shape. What percentage of the plants will be recessive? 71 A dihybrid cross (2 traits, both parents are completely heterozygous for both traits) will result in a 9:3:3:1 ratio in the offspring where: 9 offspring will have both dominant traits 3 have one dominant and one recessive trait 3 have one dominant and one recessive trait 1 has both recessive traits (remember – works for Mendelian traits only) Example: P purple tall PpTt X purple tall PpTt Key: P = purple p = white T = tall t = short F1 PT Pt pT pt PT PPTT PPTt PpTT PpTt Pt PPTt PPtt PpTt Pptt pT PpTT PpTt ppTT ppTt pt PpTt Pptt ppTt pptt 9 purple tall : 3 purple short : 3 white tall : 1 white short 72 How to Set Up a Double Trait Inheritance Problem The hard part is getting the gametes from each parent to make up the top and left side of your Punnett Square. Follow the pattern: The left side tells you which letter to take from the alleles for the first trait. 1st 1st 1st 2nd 2nd 1st 2nd 2nd The right side tells you which letter to take from the alleles for the second trait. So, following the pattern, here are the gametes you would get from a parent with the genotype AaRr. Note that “Aa” are the alleles from the first trait and that “Rr” are the alleles for the second trait. AaRr 1st 1st 1st 2nd 2nd 1st 2nd 2nd AR Ar aR ar Now you take these combinations to begin setting up your Punnett square, as is shown below. AR To get the gametes that go down this side, you do the same procedure only use the other parent. Ar aR ar 73 Shortcuts for Punnett Squares You only need one of each different gamete from each parent for your Punnett squares. If you have 2 or more copies of the exact same gamete FROM THE SAME PARENT, eliminate the duplicates. For example, let’s say your crossing the parents RRGg and RrGG. Use the 1st 1st, 1st 2nd, etc. pattern to get all the possible gametes. 1st 1st 1st 2nd 2nd 1st 2nd 2nd RRGg RrGG RG Rg RG Rg RG RG rG rG Some of the gametes are the same for the same parent, so cross them out. 1st 1st 1st 2nd 2nd 1st 2nd 2nd RG Rg RG Rg RG RG rG rG Now, use the remaining gametes to make your Punnett square. The blue shows the resulting offspring. RG Rg RG RRGG RRGg rG RrGG RrGg 74 Please note the following about double trait problems: You either have to cross out ALL of the duplicates or NONE of them for a double trait problem to work out correctly. You will NEVER have 3 gametes from a parent in a double trait problem. If you do, you either crossed out a gamete you shouldn’t have, or you didn’t cross out ALL of the duplicates. Only a completely or fully heterozygous parent will get you 4 different gametes, which is the highest number of gametes you can have for a double trait problem. 75 Human Blood Types: Codominance and Multiple Alleles Codominance: both alleles in the heterozygous genotype express themselves fully Multiple alleles: three or more alleles for a trait are found in the population Blood Type Alleles: IA – produces antigen A IB – produces antigen B i – produces no antigens Note: replace “produces” with “allele for” to get the key for all blood types problems. IA and IB are not dominant over each other. The allele i is recessive to IA and IB. Genotype Phenotype IAIA or IAi Type A blood IBIB or IBi Type B blood I AI B Type AB blood ii Type O blood Blood Types: If you are Type A, you have antigen A on your red blood cells. You also have antibody B in your blood plasma. Antigen: a type of carbohydrate attached to RBC’s Antibody: part of your body’s defense system antibody B “attacks” antigen B 76 If you are Type B, you have antigen ___B__ on your RBC’s and antibody __A__ in your blood plasma. If you are Type AB, you have antigen __A__ and antigen __B__. (That’s codominance – both IA and IB are expressed.) You have no antibodies if you’re type AB. Why? If you are Type O, you have no antigens on your RBC’s, and you have antibodies A and B. NOTE: Only the antigens are donated, not the antibodies. TYPE A B AB O Can Donate To: A, AB B, AB AB O, A, B, AB Can Receive From: O, A O, B O, A, B, AB O Type AB is called the universal recipient, and Type O is called the universal donor. Why? Reference Chart: Antigens and Antibodies Antigen A Antibody A Antigen B Antibody B Type A Type B Type B Type A Type AB Type O Type AB Type O 77 Blood Type Problems 1. What’s the probability of a woman with type AB blood and a man with type O blood having a child with type A blood? 2. Cross a man heterozygous for type A blood with a woman with type AB blood. Give the genotypic and phenotypic ratios of their offspring. 3. A man with type A blood and a woman with type B blood have a child with type O blood. Give the genotypes of the parents and the child and show a Punnett square for the cross. 78 Mutations Mutation: a random change in the sequence of nucleotides in DNA mutagen: a factor in the environment that causes a mutation examples: radiation (nuclear, X-rays) chemicals (tobacco) UV rays (can cause skin cancer) 2 types of mutation: 1. chromosomal mutations: involve entire chromosome 2. gene mutations: involve individual genes Chromosomal Mutations: 1. deletion: a piece of a chromosome breaks off and is lost 2. duplication: extra copy of part of a chromosome Usually, chromosomal mutations have huge effects. Most deletions are lethal. Gene Mutations: 1. frameshift mutation: nucleotides are lost or gained, disrupting the codon sequence Pat the bad cat. (delete 1 letter) Ptt heb adc at nonsense! So if you’re reading codons and one base is lost, it can change all the amino acids that are coded for after the deletion. It could give an entirely different protein, or no protein at all. 79 2. Point Mutation: a change that occurs in only one nucleotide Ex. DNA has bases ATA mutation ATC When the DNA is transcribed to mRNA, the mutation can affect what amino acid is coded for. DNA: mRNA: codes for: ATA UAU tyrosine mutation ATC UAG STOP codon 80 1. 2. 3. 4. Mutations: The Good, The Bad, and The Ugly Sometimes mutations can have almost no effect on an organism. Sometimes mutations can kill an organism. Sometimes mutations can be harmful to an organism but not kill it. Sometimes mutations can be helpful to an organism, giving it a new gene that is an advantage. examples: a mutation in a deer thaqt results in better hearing a mutation in a rabbit that gives it thicker fur in the winter a mutation in a squirrel that gives it bigger mouth pouches to carry food How is each one of these mutations helping the organism to survive? 81 Incomplete Dominance Incomplete dominance: genetic inheritance in which neither allele is completely dominant or recessive; the heterozygous condition produces a phenotype that is intermediate between the alleles Example: In snapdragons, there are 2 alleles for flower color: C1 is the allele for red flowers and C2 is the allele for white flowers. P homozygous red X homozygous white C1 C1 C2 C2 F1 C1 C1 C2 C1 C2 C1 C2 C2 C1 C2 C1 C2 KEY: C1 -- red C2 -- white All F1 offspring are C1 C2 which gives the phenotype of PINK flowers. (Note: snapdragons & four o’clock flowers use the same alleles). Another example of incomplete dominance is sickle cell anemia in humans. Homozygous recessive produces the disease, homozygous dominant has no disease. If you have the disease, your red blood cells are sickle shaped under low oxygen conditions and can’t carry oxygen very well. They also clog up blood vessels, cutting off the blood supply to different areas of the body. People with the heterozygous ( HbS HbA ) genotype for sickle cell anemia do NOT have the disease. Only a few of their RBC’s are sickle shaped and the normal cells carry enough oxygen. However, heterozygotes have an advantage – they are immune to the disease malaria, which is spread by mosquitoes and is often fatal if not treated properly. 82 Sickle-Cell Anemia and Hemoglobin Incomplete Dominance in terms of Red Blood Cell Shape Codominance in terms of Hemoglobin Organismic Phenotype Genotype Sickle-Cell Trait HbSHbA (heterozygous) Hemoglobin Types Present S and A Since both forms of hemoglobin are (few RBC’s sickle shaped but only under low oxygen - since of this is an intermediate, RBC shape in sickle cell is an example of incomplete dominance) Sickle-Cell Anemia present, in terms of hemoglobin, sickle cell is actually an example codominance. HbSHbS S HbAHbA A (RBC’s are sickle shaped) Normal (RBC’s never sickle shaped) Remember: Sickle-cell trait and sickle-cell anemia are NOT the same thing. Sickle-cell trait has a few red blood cells that become sickle shaped but only under low oxygen levels. However, people with sickle cell trait (heterozygous) are also immune to malaria. This is a huge advantage for populations existing where malaria is rampant. It is also the reason why sickle cell anemia is still common in these same populations. In some areas of West Africa, as much as 40% of the population is heterozygous (sicklecell trait). It would be a disadvantage to be heterozygous in areas of the world where malaria is not a threat, since being heterozygous introduces the possibility of passing on sickle-cell anemia to children and future generations. Having sickle-cell anemia affects the general health of a person in a lot of ways. For a flow chart illustrating these devastating effects, examine the other side of this paper. It is important to note that while sickle-cell trait and sickle-cell anemia are extremely rare in Caucasian populations, it is not impossible for a Caucasian person to have either of these. 83 Sex-Linked Traits Sex-linked traits: traits that are controlled by genes located on the X chromosome Our understanding of sex-linked traits came from studying the fruit fly. Sex is determined the same way in fruit flies as it is in humans _____XX_____ = female _____XY______ = male ___Thomas Hunt Morgan_______ : year: ___1909____ : While studying fruit flies, he noticed a male fly with white eyes (red eyes is the normal phenotype). He crossed this male with a red eyed female. All of the F1 had red eyes, showing that ___red_______ eyes were dominant. So far, the cross fit the normal pattern. P red eyed female _____RR_____ F1 X white eyed male _____rr______ R R r Rr Rr r Rr Rr KEY: R = red eyes r = white eyes Note: This cross later turned out to be incorrect!! All F1 flies have the genotype _______Rr______ and the phenotype _________red eyes________. Morgan crossed the F1, expecting the 3:1 ratio that a monohybrid cross would normally give (3 ____red eyed________ : 1 ________white eyed________). He got that ratio, but with a twist. All of the white eyed flies were males! Morgan explained that his results were from the gene for eye color being located on the ____X___ chromosome. If you look at his complete experiment through the F2, you can see how it works out. With sex-linked traits, we also keep track of the sex chromosome in addition to the gene for the trait. Check out the revised key. 84 P red eyed female X R XR X XR XR Xr X R Xr X R Xr Y XR Y XR Y F1 Key: XR -- gene for red eyes Xr -- gene for white eyes Y -- males, no gene for trait white eyed male Xr Y F1 are all ___red eyed_____ for phenotype, with the genotypes ___ XR Y ___(Male) or ___ XR Xr (Female). (Remember, to get the F2, cross the male and female F1.) red eyed male ___ XR Y __ F2 XR Xr X XR Y XR XR XR Y X R Xr red eyed female ___ XR Xr Xr Y # of offspring Genotypes Phenotype Sex R R ___1__ __ X X __ _____red eyes________ female R ___1__ __ X Y___ _____red eyes________ male R r ___1__ __ X X __ _____red eyes________ female ___1__ ___ Xr Y __ _____white eyes______ male In sex-linked traits, there is no corresponding gene on the Y chromosome in males, so whatever gene is on the X chromosome is expressed, whether it is dominant or recessive. 85 The recessive condition of sex-linked traits is mostly found in males (although it is still possible to have a female with the recessive condition). Why is this true? Male only need one recessive allele for the recessive form to be expressed. Females must have TWO recessive alleles. There are several sex-linked genes in humans. Colorblindness, Duchenne Muscular Dystrophy, and Hemophilia (a disease in which a person’s blood has extreme difficulty in clotting) are a few of them. The genes for these diseases are recessive. However, the symbols are different. For hemophilia, we use the symbols XH -normal clotting and Xh – hemophilia. Cross a man with hemophilia with a woman who is heterozygous. Give the genotypes and phenotypes of the possible children, including the sex of each possibility. P hemophilia Xh Y F1 Xh * no disease XH X h Y XH XH Xh XH Y Xh Xh Xh Xh Y Geno. Pheno. Sex XH Xh no disease female XH Y no disease male X h Xh hemophilia female Xh Y hemophilia male KEY: XH – no disease Xh - hemophilia Y – no gene 86 Sex – Linked Traits: Problem Keys for Common Diseases Hemophilia: Duchenne Muscular Dystrophy: XH – no disease Xh – hemophilia Y – no gene XD - no disease Xd – DMD Y – no gene Colorblindness: XC – no disease Xc – colorblind Y – no gene Please make sure there is a physical difference between your capital “C” and your lowercase “c” !!! Hypophosphatemia: XH – hypophosphatemia Xh – no disease Y – no gene Note that the allele for this disease is is dominant, yet the alleles for all of the other diseases listed above are recessive! Don’t forget eye color in fruit flies: XR – red eyes Xr – white eyes Y – no gene 87 Sex-Limited Trait Sex-limited traits: Traits that are only expressed in the presence of sex hormones and are only observed in one sex or the other _ Sex-limited traits are controlled by genes located in the autosomes (non-sex chromosomes). Although both males and females carry these genes, they are only expressed in one sex. Because you need large amounts of the proper sex hormone for the genes to be expressed, most sex-limited traits are not expressed in children. Examples: In many birds, male plumage is more colorful than female plumage. In humans, beard growth in men is a sex-limited trait as well as milk production in women. GENE + HORMONE = SEX LIMITED TRAIT Sex-Influenced Traits Sex-influenced traits: Traits expressed in both sexes, but they are expressed differently __ Example: Baldness 1. In the presence of male sex hormones, the allele for baldness is dominant. 2. Female sex hormones cause the allele to be recessive. A woman may lose hair if her genotype is homozygous recessive. Polygenic Traits Polygenic trait: Trait that is controlled by more than one gene polygenic traits are especially prevalent in genes that control body shape or form . Inheritance of polygenic traits can be very complicated. Example: parakeet color see handout __ 88 Some human traits that are considered polygenic: a. skin color (numerous genes control the amount of melanin in the skin) b. height Nondisjunction Nondisjunction: “not coming apart” Recall from meiosis that during anaphase, the chomosomes are pulled apart to opposite ends of the cell. If this doesn’t happen properly during oogenesis or spermatogenesis, the egg or sperm will end up with too few or too many chromosomes. Example: X X X X Metaphase II 8 chromosomes 4 pairs of homologous chromosomes Anaphase II 5 chromosomes (vs. normal 4) 3 chromosomes (vs. normal 4) 89 Many human genetic disorders are a result of nondisjunction. 1. Down’s Syndrome: trisomy 21 there are ____3____ copies of chromosome number 21 instead of the normal ____2___ copies. Some of the characteristics of people with Down’s syndrome include: a. reduced mental capacity (varies greatly between individuals) b. lack of muscle tension (“floppy” appearance, tongue often lolls) c. ears are placed lower on the head (often problems with ear infections as infants) d. larger head and facial features are closer together e. life expectancy is greatly reduced (late twenties to early thirties was lifespan; now closer to 40’s, 50’s) f. often sterile, but not always 2. Turner Syndrome – “XO” – a sperm or egg is produced without a sex chromosome; the O indicates a missing sex chromosome people with Turner’s syndrome are females; the sex organs do not fully develop and therefore they are sterile; lack secondary sex characteristics 3. Klinefelter Syndrome – “XXY” – an extra X is present from either the sperm or the egg people with Klinefelter syndrome are usually male, may have reduced mental capacity, and are often sterile; lack secondary sex characteristics Notes on XYY Syndrome: (aka Richard Speck Syndrome ) sex: male characteristics: tall; lanky; severe adult acne; aggressive/violent tendencies ___ a study done on XYY syndrome showed a proportionately larger population of XYY males in prison than in the general population 90 Environmental Effects on Gene Expression Gene expression can be affected by both the external environment and the internal environment inside an organism. Phenotype is generally a combination of genetic and environmental influences. Example: Himalayan rabbits (temperature) 1. The rabbits are normally covered with white fur. 2. However, its ears , nose, and feet are black. 3. This pattern occurs because most of the rabbit’s body is generally warmer than its extremities. 4. Body temperature affects the expression of genes that code for fur color. 5. When researchers remove a patch of hair from the body and cool the skin as new fur grows, the new fur is _____black______. When they shave hair from the feet or ears and keep those areas warm, the fur that grows back is ____white_________. Example: Japanese goby fish (social environment) 1. The goby fish can change its ___sex_____ back and forth in response to changes in its social environment. 2. Goby fish exist in schools of many females and only a few males. 3. If a large male goby leaves a population, a female goby will ____become male_____. 4. If another large male enters that goby population, this new male turns back into a female. Example: Human height (internal environment) While human height is a ____polygenic_______ trait, it is also affected by the nutrients in your diet. 91 Evolution Vocabulary Species: Interbreeding populations of organisms that can produce healthy, fertile offspring Within species, lots of variation exists. Variation: the differences between individual members of a population Variation can be dramatic (different colors of fur), it can be subtle (slightly different diet), or it can be difficult to observe (different hormone levels). Many (though not all) variations are genetically determined. The particular traits inherited by an individual organism determine whether that organism will survive in a particular environment. Adaptation: An inherited trait that increases the chances of survival and reproduction in a particular environment; “an advantage” Evolution: the idea that organisms change over long periods of time 92 Theory and Evidence of Evolution The Earth is home to millions of different organisms, each different from the other. By examining the fossil record , we can see that there were even more organisms that no longer exist. Many people have tried to explain the origin and the diversity of life for thousands of years. EVIDENCE: 1. Diversity: millions of different organisms exist on the Earth With this diversity, each organism is well adapted to its __environment__. 2. Geological Time Scale: By examining ____geological formations___ and using such techniques as ____radio-carbon dating____, we can conclude that the Earth is 5.5 – 6 BILLION years old. This gives lots of time for change to occur. 3. Fossil Record: We can trace the ______ancestors___ of organisms through the fossil record. Some organisms’ fossil history is more __complete___ than others. And using radiocarbon dating, we can date these fossils and put them in order to see what __changes___ have taken place. example: horse (see handout) 93 4. Homologous Structures: traits that are similar in different species because the species share a common ancestor __ Example: the human arm, whale fin, and bat wing may have evolved from the forelimb of a common vertebrate ancestor Notice the pattern: 1 large bone 2 smaller bones many very small bones the appearance of each is different because: these species are adapted to their particular environments 5. Vestigial Structures: structures or characteristics that are greatly reduced in size and_ usually not used; vestigial structures are homologous with structures in other species which suggests common ancestry with_ those species Example: python’s leg and hip bones – reduced and not used These bones are remnants of structures that were used in an ancestor. The python’s hip and leg bones are homologous to the hip and leg bones of other legged reptiles, which suggests that the python is related to legged reptiles. 94 6. Embryos : embryos of related organisms develop in similar ways Example: gill pouches They form in embryos of all vertebrates; in fish, they develop into gills, but in mammals they don’t develop at all. Gill pouches may have been inherited from a common ancestor. 7. DNA : DNA is found in every living organism, without exception; the codes for amino acids are universal __ __ 8. ATP : all living organisms use ATP as an energy source; no exceptions Ideas of How Evolution Happens 1. Jean Baptiste Lamarck (1809) first person to reason that fossils of extinct organisms were the____ ancestors of those organisms living today ______ Three main parts to his hypothesis of how evolution happened: 1. Organisms constantly strive to improve themselves. 2. Principle of Use and Disuse: The most used body structures develop, while unused structures waste away; “use it or lose it” 95 3. Inheritance of Acquired Characteristics: Once a structure is modified by use or disuse, the modification is inherited by the organism’s offspring _ Examples: if you have brown hair and dye it blond, your children will inherit blond hair, not your natural color (brown); tattoos Lamarck’s hypothesis was later disproved by German biologist August Weismann through experiments with mice. 3. Charles Darwin (b. 1809 d. 1882) joined an around the world trip in 1831 on the HMS Beagle; during the trip, he collected ___plant___ and ___animal____ specimens and logged countless observations noticed the variety of species in the world and how each different species had its own spot in its environment Influences on Darwin: 1. Geology: from ___Charles Lyell_____ Darwin learned that geological change is an extremely slow and uniform process Darwin concluded _that the Earth must be very, very old._ Darwin reasoned that gradual geological changes over long periods of time influence plant and animal life. 96 2. Artificial Selection: ___the selective breeding of domestic animals and crops___ ex. choosing parents to get the most desirable traits (corn, dogs) Artificial selection often results in organisms that bear little resemblance to their ancestors. Darwin reasoned that a selection process also occurred in nature. 3. Thomas Malthus and Population Control An economist, Malthus stated that: The human population was growing so fast that the supply of resources couldn’t possibly keep up with demand __ Disasters such as war, diseases, or starvation limited the growth. Darwin saw this in nature with other species. If all of the offspring of a population survive, the population would quickly outgrow its supply of resources. So not all offspring can survive. There is always competition for _____food____, ______water____, and ______living space_____. Example: frogs, fish, insects 97 Darwin’s Theory of Evolution: Natural Selection In 1844 Darwin wrote a paper on his theory of evolution, but because he knew his ideas would challenge popular beliefs, he did not publish the paper for over 10 years. Meanwhile, another naturalist, ____Alfred Wallace________, developed a theory similar to Darwin’s. In 1858, both men agreed to send their papers together to the same scientific organization. Wallace gave Darwin credit since Darwin had the idea first. 1859 – Darwin publishes the book “ On the Origin of Species by Means of Natural Selection__” which gives greater detail to his theory. Natural Selection: 5 Main Parts 1. __There is variation within populations there are differences between organisms, even those of the same species many variations are inherited and are passed from parent to offspring 2. Some variations are favorable. if favorable, the variation improves the organism’s ability to function, survive, and reproduce in its environment 3. Not all of the young produced in each generation can survive.__ There’s only so much food, space, and resources to go around. many offspring die from disease or starvation 98 4. There is a struggle for survival. Organisms must compete with each other for the available resources. 5. Those individual organisms with the favorable variations will survive and reproduce. “Survival of the Fittest” When these survivors reproduce, their favorable variations will be passed on to their offspring.