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306 Cards in this Set
- Front
- Back
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Based on their size of monosaccharides and disaccharides what are their biological functions?
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Travel and buidling
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Describe disaccharides.
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- two sugars
-consist of 2 monosaccharides -relatively small size -found in milk glands and taste buds |
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Describe oligosaccharides.
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-few sugars
-consist of 3-20 monosaccharides linked together -some are drugs and vaccines |
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Describe polysaccarides.
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-formed by linking many (1,000s) monomers "monosaccharides" together
-some store excess energy starch: a plant polysaccharide -some provide physical support |
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What is chitin?
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degradable used by doctors in the body when doing surgery
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why must we obtain carbs through diet?
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because our cells cannot synthesize them directly from carbon dioxide
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what is a polypeptide?
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a polymer formed by linking amino acids together
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what is a protein?
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a biologically-active molecule consisting of one or more polypeptides
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what is the function of a protein?
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transport, enzymatic activity, signal transduction, cell-cell recognition, allowing muscle cells to contract, intercellular joining, attachment to the cytoskeleton and extra cellular matrix (ECM)
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the ability to recognize the functions, polysaccharides and others is because of what biologically-active molecule?
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protein
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what is the cyto-cell?
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cytoskeleton structural support system built from protein
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what does the hemoglobin do?
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transports oxygen and other substances in the blood through the body
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what must fold properly in order to become a biologically-active protein?
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a polypeptide
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what are disorders due to abnormal protein structure?
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sickle-cell hemoglobin and mad cow disease
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what is the process of denaturation?
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process of proteins unfolding, dramatic change in shape loses its function and disease can attack
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what is diffusion?
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the spontaneous movement of a substance from higher to lower concentration, physical process that biological system relies on
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what is osmosis?
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the diffusion of water across a water-permeable membrane (from high concentration to low concentration)
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insufficient intake of essential amino acids reduces what?
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the diffusion of water from the tissues into the bloodstream by osmosis.
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what are hydrophobic, non-polar (equal electrical charge distribution) compounds that won't dissolve in water?
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lipids
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what drives the assembly of many biological molecules and structures?
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hydrophobic effect
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which characteristic is shared by all lipids?
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hydrophobic
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how do plants use lipids?
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photosynthesis, cell membrane and light
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what are compact, energy-rich molecules specialized to store energy?
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triacylgylcerols (triglycerides)
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Fats and oils are....
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triacylglycerols
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which fatty acids are packed more tightly together? ex. butter and crisco
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saturated fatty acids
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which fatty acids pack more loosely together? ex. olive oil
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unsaturated fatty acids
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what are fats?
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triacylglycerides that are solid in temperature
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what are oils?
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liquids in room temperature
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benefits of vitamins D, E, A, and K
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- calcium absorption by the intestine
- vision, growth factor for epithelial tissue, regulator of gene expression - processing of proteins involved in blood coagulatino - Vitamin E: protects cell membranes and tissues from damage by, aids in the formation of red blood cells and the use of vitamin k, promotes function of a healthy circulatory system |
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what interacts to form the lipid bilayer that is the foundation of cellular membranes?
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phospholipids
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what has a ribonucleic acid (RNA) genome?
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retro-viruses
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what are infections RNA molecules?
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viroids
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example of viroids?
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viral hepatitis D, potato spindle tuber disease
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what is a genome?
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complete set of a genetic informtation
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which info is contained within the HIV RNA genome?
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contains info so that it can copy itself, to suppress of the host
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what is a poly-nucleotide (nucleic acid) synthesized by RNA polymerase that can link nucleotides together?
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RNA
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what are substrates for nucleotide synthesis?
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amino acids
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which monomers are linked together to form RNA?
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nucleotides
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which enzymes forms RNA?
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RNA preliminaries
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which bases are found in RNA?
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adenine, guanine, cytosine, and uracil
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what is a mechanism that regulates gene expression & degrades foreign double-stranded RNA?
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RNA interference (RNAi)
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what is a process that allows us to recognize and destroy double-stranded RNA?
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RNAi
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all single-cell and multi-cell species & some viruses store their genetic information where?
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in DNA
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what links nucleotides together to form DNA?
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DNA polymerase
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which enzyme synthesizes DNA?
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DNA polymerase
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why is DNA called a double helix or duplex?
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because they are double stranded
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which pentose carbohydrates is in DNA? Which base are in DNA?
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Deoxyribose: A, G, C, T
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what is the name for the complete DNA sequence of an individual?
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geonome
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what bonding between complementary base pairs binds the two DNA strands together?
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hydrogen bonding
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where does hydrogen bonding occur?
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between partially positively-charged hydrogen atoms and partially negatively-charged atoms
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complementary base pairing facilitate what?
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DNA replication and repair
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where is DNA located in eukaryotic cells?
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nucleus, mitochondria and chloroplasts
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which type of temporary chemical bonds promote the stability of the DNA double helix?
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hydrogen bonds and van der waals
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complementary base pairs are formed between which base pairs?
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A binds to G, C binds to T
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where is DNA located in animal cells? plant cells?
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nucleus and mitochondria, chloroplasts and nucleus
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what is necessary to synthesize thymine?
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folic acid
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which protein or RNA catalyst increases the rate of a chemical reaction without being consumed by the reaction?
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an enzyme
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in which part of an enzyme does the chemical reaction occur?
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active site
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activation energy causes a substrate to enter which state that is an intermediate, energy-rich, unstable state that is ready to react to form product?
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Transition state
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how does the active site reduce activation energy?
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that active site brings the 2 substrates, organizes them, into a specific organization so that they can chemically bond and perform their duties
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what is activation energy?
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the energy that is necessary for the substrate to go into the transition state
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our cells use what to coordinate thousands of chemical reactions simultaneously so that each reaction occurs in the proper location, at the proper time, and generates the proper amount of product?
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enzymes
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what is when a regulator bonds to one site of a protein and changes its activity at another site?
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allosteric regulation
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name purines.
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Adenine (A) & Guanine (G)
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name the pyrimidines.
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cytosine (C) & Thymine (T)
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which minerals are co-factors ("enzyme helpers") that activate specific enzymes?
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calcium, cobalt, copper, iron, magnesium, molybdenum, selenium, and zinc
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without the co-factor attached....
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the protein is not active
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which cells retain their ability to divide?
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stem cells
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what are specific micro-environments in our bodies where adult stem cells reside & remain unspecialized?
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stem cell niches
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why must the body precisely regulate the division of stem cells?
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cancer
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which stem can develop into an individual?
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totipotent stem cells
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embroynic stem cells are...
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totipotent until the embryo reaches the 8-cell stage
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which stem cells are found in later-stage embryos, umbilical cord blood, and some parts of the placenta?
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pluripotent stem cells
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which stem cells build, maintain and repair cells & tissues?
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multipotent adult (somatic) stem cells
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adipose tissue (fat cells), blood vessels (endothelial cells), bone marrow, brain, ganglia, eyes, hair , testes, heart, liver, lung, muscle (skeletal), olfactory mucosa, skin, and teeth (dental pulp) are examples of which stem cells?
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multipotent adult (somatic) stem cells
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what is the most fundamental unit of life because it can acquire and process energy, repair and reproduce independently?
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the cell
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what is the cell theory?
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-cells are the most fundamental units of life
-all single-cell & multi-cell species are composed of cells -all cells are produced from pre-existing cells |
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what are single-cell species?
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prokaryote and eukaryote
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what species consist of multiple types of cells, each making a unique contribution, that must interact in order to build, maintain, and reproduce a fully-functional organism?
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multi-cellular species
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the human body consists of how many cells types?
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220
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why aren't prions, viroids, or viruses the most fundamental units of life?
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they can't reproduce, they can't obtain and process energy, they can't repair on their own. their so much smaller than a cells
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the archaea and bacteria are examples of which single-cell species?
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prokaryotes
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these cells lack organelles, so much smaller, they don't have the membrane like our, and has unique enzymes that gives it unique functions
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prokaryotic
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which cells contain internal, membrane-enclosed structures called organelles?
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eukaryotic cells
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what is a group of cells organized into a functional unit?
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tissue
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which cells are columnar epithelia, which have cells cells with relatively large cytoplasmic volumes, and are often where secretion or absorption of substances is an important function.
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epithelial cells
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which cells do these function: sensation, gas (o2) diffusion, pathogen detection, movement of trapped particles, absorption, and secretion
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epithelial cells
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which tissue binds, supports, organizes other tissues and organs, stretches (elastic), cushions, stores energy, participates in development, transports materials throughout the body?
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connective tissue
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which tissue contract and shorten, helps the movement of our skeleton, helps food digest?
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muscle tissue
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which tissue is responsible for communication and processes information?
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nervous tissue
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which tissue covers all outer plant surfaces?
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dermal tissue
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which tissue is responsible for absorption and secretion, gas exchange with environment, physical protection, and reduces dehydration?
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dermal tissue
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which tissues provide transport, structural support and storage?
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vascular tissue
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which tissue provides storage, structural support and photosynthetic ability?
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ground tissue
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the division of which cells in our body must be precisely regulated in order for us to develop, grow, defend & maintain ourselves, and reproduce?
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adult stem cells
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what cycle describes the sequence of events in a cell's life from the time it is produced by the division of its parent cell until the time it divides to produce two daughter cells?
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the cell cycle
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what is one undesirable outcome of random cell division in the body?
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cancer
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what is based on the accurate completion of a precise sequence of biochemical event?
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the cell cycle control system
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what are control points where stop and start signals regulate the cell cycle?
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checkpoints
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what stops at each checkpoint to allow the checkpoint sensor to evaluate a specific biochemical event?
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the cell cycle
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specific signals (ligands) induce____ when an error detected by a checkpoint sensor can't be repaired
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apoptosis
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what signal is required to pass the G1 checkpoint (restriction point) and enter the synthesis (s) phase?
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Go-signal
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what proteins stimulate cell division?
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growth factors
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what checkpoint repairs DNA damage?
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G2 checkpoint
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which checkpoint promotes proper chromosome movement during the mitotic phase?
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the M (spindle)
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which checkpoint increases the probability of the chromosomes to the daughter cells, and makes sure the right information is passed along?
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M (spindle) checkpoint
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disrupted cell cycle regulation can result in ...
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cancer
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a single tumor generally contains a community of cancer cells with different.....
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genotypes
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these cells ignore one or more cell cycle checkpoints, no apoptosis, and damaged DNA is not required
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cancer cells
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the human body uses what to coordinate the division of its adult stem cells?
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Go signals
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what is the process that converts a signal (ligand) detected at the cell's outer surface into the proper cellular response?
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signal transduction
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why must our cells continuously recognize and respond to internal and external signals (ligands)?
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there are trillions of cells in our body so they must be able to communicate with each other
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what are enzymes that regulate protein activity and are involved in signal transduction?
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protein kinases & protein phophatases
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what is a series of kinase reactions to amplify the signal within the cell so the cell to respond to a small number of ligands (signals)?
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protein kinase cascade
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cyclin-dependent kinases (CDK's) phophorylates specific target proteins that allow____ to enter into the next phase of the cell cycle?
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adult stem cells
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which proteins bind to and activate CDK's during the proper cell cylcle phase?
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G1, S, G2, and mitotic phase cyclins
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what is an enzyme that unwinds the double helix, after strands are separated (essential)?
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helicase
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what makes a short complementary RNA strand nucleotides called a primer on each seperated DNA strand?
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Primase
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The DNA polymerase that make DNA require the ___ end of the RNA primer to begin adding DNA nucleotides to make a complementary DNA strand
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3' OH
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another DNA polymerase removes _____ and replaces with ______
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RNA primer, New DNA strand
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what links the 3' OH end of this new DNA strand to the 5'- PO4 of the adjacent, previously formed DNA strand to seal and complete the new strand?
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DNA ligase
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what attaches at the ends of eukaryotic chromosomes prevent different chromosomes from joining together at their ends and prevent the loss of genes at the end of chromosomes?
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Telomeres
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what provide great stability and stops the chomosomes form connection/linking together to stop from attaching itself to each other?
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telomeres
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if there's a defect in telomeres....
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there can be a disability
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which stem cells produce the enzyme telomerase to replace telomeres after each round of DNA replication?
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adult stem cells
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what stem cell divides by mitotic cell division during the mitotic (m) phase of the cell cycle resulting in the production of the identical daughter cells?
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adult stem cells
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mitotic cell division consists of ___ and ____
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mitosis and cytokinesis
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what is an essential process for all single-cell & multi-cell species?
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mitotic cell division
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growth is dependent upon what?
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mitotic cells
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the spindle microtubules attach to what each sister chromatic?
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the kinetchore (the centromere DNA sequence & specific proteins)
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what is a structure consisting of microtubules that delivers two complete sets of chromosomes to each end of the adult stem cells during mitosis?
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the spindle
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what consists of two cell division events that enable one diploid (2N) cell to produce four haploid (1N) cells that can develop into gametes (sex cells)
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meiotic cell division
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what enable sexually-reproducing populations to maintain a constant chromosome number from generation & produce genetically-variable gametes (sex cells)?
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meiotic cell division
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where does meiosis occur in flowering plants?
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flowers
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when crossing over occurs...
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homologous chromosomes separate and two cells are formed in meiosis 1
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what happens during anaphase 1?
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the 2 maternal sister chromatids seperate from the 2 paternal sister cromatids
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each cell contains either the ____ or the ____ chromatids for chromosomes 1-22 and XX in females or YY in males
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2 maternal, 2 paternal sister
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crossing generates recombinant chromosomes with new combinations of maternal & paternal alleles during which phases?
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prophase 1 of meiosis 1
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which essential events occur during meiosis 1?
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crossing over splitting
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what is the result of crossing during prophase 1 or meiosis 1?
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exchanging alleles from the mother and father chromosomes
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all possible combinations of what two chromatids can occur in gametes?
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maternal and paternal
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what relates to genetic disorders?
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aneuploidy
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what is the process that converts a cell into a cancerous cell?
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tranformation
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describe the process of transformation?
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-a tumor grows from a single cancer cell
-cancer cells invade neighboring tissue -cancer cells spread to other parts of the body -cancer cells may survive and establish a new tumor in another part of the body |
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what are the properties that characterize cancer cells?
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-increased lifespan (abnormal aging)
-divide indefinitely -no apoptosis -abnormal binding to other cells & to the extracellular martix (ECM) |
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what are some properties of cancer cells?
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divide indefinitely, abnormal binding, cell matrix, won't self-destruct, age abnormally
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what alkaloids bind to spindle microtubules, disrupt spindle function, and apoptosis induced?
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Taxol & the vinca alkaloids
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what inhibits the enzyme, dihydrofolate reductase, to prevent thymine (dTTP) synthesis?
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methotrexate
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what gets imported into the cancer cell which inhibits the enzyme and helps thymine to continue synthesis?
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methotrexate
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what therapy deprives some breast and endometrial cancer cells, prostate cancer cells of their "go-signal", which activates the G1 checkpoint resulting in apoptosis?
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anti-hormone therapy
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what treat breast & endometrial cancers by preventing estrogens & progestins from binding to their receptors?
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anti-extrogens & anti-progestins
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what inhibits angiogensis and is a potential treatment for metastatic cancer?
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angiostatin
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what is the mode of action of angiostatin?
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angiogenesis
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what identifies compounds that cancer cells preferentially use, such as glycine, that could be targets for new drugs?
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metabolic profiling
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what could inhibit glycine synthesis and import into the cancer cell?
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drugs
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Describe nanoparticle therapy (nano technology).
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-soluble in blood & lymph
-locate all cancer cells in body -deliver drugs to cancer cells and never to healthy cells -avoid detection by immune system & removal by liver & kidneys |
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what causes DNA damage checkpoint activation resulting in apoptosis in some cancer cells?
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radiation therapy
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what presents "a difficult set of problems" because cells in a single tumor can have different genotypes and thus can respond differently to a single treatment?
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cancer
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what participates in the regulation of substances in and out of the cell?
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cell membrane
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what senses changes within the cell?
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cell membranes
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what two things interact to synthesize and deliver the phospholipids & steroids that build the cell membrane?
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Endoplasmic reticulum (ER) and Golgi Apparatus
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what are small, membrane-bound sacks that transport materials?
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vesicles
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what contains the important enzymes that help us withour cells?
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the ER
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which organelles interact to make and deliver the phospholipids and cholestrol molecules that make our cell membranes?
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Golgi and ER
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which essential functions are performed by the cell membrane?
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receptor proteins, allows different cells to interact with tissue
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small, hydrophobic, non-polar substances directly diffuse across what cell membrane?
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cancer cell membrane
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what provides the energy for hydrophilic elements (CA++, Na+, or Cl-) to pass through channel proteins (facilitated diffusion)?
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diffusion
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what provides the energy for small, hydrophilic molecules like glucose to be transported by which proteins?
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carrier proteins (facilitated diffusion)
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what cells use carrier proteins to import glucose, they require assistance of the carrier proteins?
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cancer cells
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which protein is specialized to recognize how to transport certain hydrophilic molecules?
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carrier protein
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how do small, non-polar substances like oxygen enter cancer cells?
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direct diffusion across the membrane
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how do small, hydrophilic molecules like glucose enter cancer cells?
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facilitated diffusion that involves carrier proteins
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how do small, hydrophilic elements like calcium enter cancer cells?
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facilitated diffusion that involves channel proteins
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which physical process provides the energy to drive transport by channel proteins and carrier proteins?
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diffusion
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active transport proteins require energy (ATP) to move what type of substances across the cell membrane from lower to higher concentration?
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hydrophilic substances
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what proteins complicate chemotherapy?
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multi-drug resistance
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what cells have the ability to manufacture these active transport proteins, multi-drug resistance proteins/factors, that can recognize the anti-cancer drugs and export/"split" them?
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cancer cells
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where are the mult-drug resistance proteins located?
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in the cell membrane of the cells
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when is the active transport of substances across the cell membrane required?
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when diffusion can't be used
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who do multi-drug resistance active transport proteins reduce the efficacy of cancer chemotherapy & antibiotic chemotherapy?
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they export them our of the cells
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what is the functions of multi-drug resistance proteins in normal cells?
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transport toxins out of the cell that we intake from foods or drinks, normal function in our healthy cells
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what is a type of endocytosis that allow the uptake of foreign invaders and food particles?
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phagocytosis (cellular-eating)
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Any process where the cell membrane surrounds the particle and forms a sac and transports "food" or other particles describes what?
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endocytosis
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what is a type of endocytosis that permits cells to uptake extracellular fluids containing food molecules & other dissolved substances?
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pinocytosis
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____ endocytosis allows cells to uptake specific molecules in a regulated manner.
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receptor-mediated
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what exports large hydrophilic substances into the extracellular space?
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exocytosis
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which process enables cancer cells to export growth proteins to grow new cells, helping the cancer cell to get the blood supply it needs?
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exocytosis
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what three mutagens change the nucleotide sequence of DNA to cause mutation?
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biological, chemical and physical
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UV light and gamma rays are what type of mutagens?
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physical
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what is an alternative form of a single gene?
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an allele
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is hair color an example of an allele?
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yes
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do cancer-causing genes have alleles too?
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yes
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what is a mutation?
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change in a nucleotide sequence
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what regulates cell division by docing for proteins that stimulate cell division (ligands, receptors, g proteins, cyclins, protein kinases, CDK's (cyclin dependant kinases), ETC) in a regulated manner?
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proto-oncogens
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what typically code for all the proteins that stimulate growth, allow our cells to recognize the go-signals?
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proto-oncogenes
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a gain of function mutation can convert what to an oncogene that codes for a protein that constantly stimulates cell division?
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proto-oncogenes
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a gain of function mutation in one proto-oncogene can significantly increase the risk of what?
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cancer
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what is the normal function of a proto-oncogene?
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typically stimulate regular cell division in a regulated manner
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how does on oncogene increase the risk of cancer?
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always instructs the cell to divide
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tumor suppressor genes regulate what by coding for proteins that inhibit cell division in a highly regulated manner (DNA repair, checkpoints, apoptosis)?
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cell division
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cell to cell binding prevents what?
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metastasis
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cell binding to the extra-cellular matrix prevents what?
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metastasis
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loss of function mutations in tumor suppressor genes can prevent what, cause checkpoint failure, disable apoptosis, and promote metastasis.?
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DNA repair
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loss of function mutations in both alleles of a tumor suppressor gene significantly increase the risk of what?
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cancer
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what theory describes how the information stored in genes is used to make proteins?
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central dogma
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describe the dogma theory.
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theory or model, basic, during transcription process the info stored in the DNA is copied and used to go to the RNA. the translation process is when the info stored in the RNA and sent to the protein.
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what converts the information in a gene into a specific polypeptide of specialized RNA molecule in the proper cell type, proper concentration, and at the proper time?
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gene expression
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what involves the process of transcription and translation?
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gene expression
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which specific genes are expressed in an immature red blood cell that enable it to perform its function in the body?
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hemoglobin- delivers oxygen so that the red blood cell can perform its function in the body
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which specific genes are expressed in a white blood cell that enable it to perform its function in the body?
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genes that are involved in defense
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the genetic codes is base on 3-nucleotide sequences in DNA called....
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triplets
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the three bases that code for one amino acid...
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(ATG)(CTA)(GGC)
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what can be arranged to form a code that relates to other amino acids?
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triplets
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what interact to form the DNA called triplets, we can produce 64 triplets, more than enough that we need to produce?
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nucleotides
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TRUE or FALSE: the genetic code is universal. All living things use the same genetic code.
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TRUE
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what transgers the information stored in the coding strand of a gene to a messenger RNA (mRNA) molecule or transcript?
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transcription
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this makes ribosomal RNA (rRNA)?
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RNA polymerase I
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what makes messenger RNA, micro RNA, and small nuclear RNA?
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RNA polymerase II
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what makes transfer RNA (tRNA) and ribosomal (rRNA)?
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RNA polymerase III
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what reads the nucleotide sequence of the template (non-coding) strand of a gene to synthesize a complementary mRNA molecule identical to the coding strand except that "U" replaces "T" in mRNA?
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RNA polymerase
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what performs many functions during transcription, it separates the DNA double helix, and identify each of nucleotides and add if it needs a thymine, adenine, or guanine to the forming of RNA?
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RNA poly merase
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RNA polymerase II & six general transcription factors assemble at the promoter region during which phase?
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the initiation phase
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a what includes a TATA box?
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eukaryotic promoter
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what must bind to the DNA before RNA polymerase II can do so?
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several transcription factors
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additional transcription factors bind to the DNA along with RNA polymerase II, forming what initiation complex?
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transcription
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RNA polymerase II unwinds the double helix (~10-20 base pairs) & synthesizes a mRNA molecule complementary to the template (non-coding) strand in which phase?
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the elongation phase
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the mRNA is cut 10-35 nucleotides past the polyadenylation signal (AATAAA) & released from RNA polymerase describes which phase?
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termination phase
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what capping enzyme attaches a GTP molecule to the 5'end of the transcript (mRNA) during transcription to form the 5'G-cap?
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capping enzyme complex (guanylyl tansferase)
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polyadenlyate polymerase adds 50-250 adenine nucleotides to the 3' transcript (mRNA) end to form what?
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the poly-a-tail
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what removes introns from the transcript & splices the remaining exons together ("a cut and past job") to produce a mature mRNA/ transcript?
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splicesome
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what enables one gene to produce different versions of the polypeptide if encodes?
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alternative splicing
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it allows the different ___ to be formed in different muscle tissue, liver tissue, brain tissue, etc.
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tropomyosin
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what is due to improper splicing of the B-Globin gene mRNA?
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B-thalassemia (~1 in 100,000 individuals)
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what does this describe: fewer red blood cells ( severe anemia) with reduced B-globin levels, blood transfusion every 2-3 weeks.
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B-thalassemia
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what results in malfunctioning proteins, lead to cancer?
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abnormal splicing & transfomation
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what are exported form the nucleus to the cytoplasm where the ribosomes convert the information stored in a mRNA molecule into a polypeptide with a specific amino acid during translation?
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mature mRNA's
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what is a 3-nucleotide sequence in messenger RNA (mRNA) that codes for a specific amino acid, a translation start site, or a translation stop site?
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a codon
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each condon codes for how many amino acids?
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1
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do some amino acids have more than one codon?
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yes
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the first and second nucleotide in each codon determine the amino acid in some cases... true or false.
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true
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each ribosome consists of a large subunit and a small subunit that contains what two things?
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ribosomal RNA (rRNA) & ribosomal proteins
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what moleules help to add to the growing molecule?
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Transfer RNA
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each type of what delivers one type of the 20 different amino acids to the ribosome?
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Transfer RNA (tRNA)
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what are enzymes that link the proper amino acid to the proper tRNA?
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aminoacyl-tRNA synthetases
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each tRNA anti-codon recognizes the proper codon in what through complementary base pairing?
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mRNA
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which phase requires GTP and initiation factors (proteins) that allow all of the ribosome components to assemble, align, activate and unwind the mRNA?
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initiation phase
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what cycle links amino acids together to form a polypeptide and requires GTP (energy) & elongation factors (proteins) that allow proper tRNA entry, proofreading, and move the mRNA relative to the ribosome?
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elongation cycle
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what factors are important for the elongation cycle to take place, thy play a proofreading role to the RNA that are entering?
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elongation factors
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the 28s rRNA molecule is a what in the large 60s subunit that links amino acids together?
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ribozyme (peptidyl transferase)
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what interacts with the stop codon of the mRNA to end translation?
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release factor
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what source of energy drives the translation process?
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GTP
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do some antibiotics inhibit translation?
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yes
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what uses the translation process to kill bacteria so that ribosome can react?
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antibiotics
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newly formed polypeptides must fold into their active 3-dimensional conformation (structure) after what?
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translation
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what proteins facilitate protein folding, re-folding, assembly, membrane-transport, and prevent the formation of disease-causing protein aggregates?
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molecular chaperon proteins
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what processing allows one gene to code for more than one polypeptide?
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post-translational
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some proteins made in the cytosol have a what that guides them to the correct organelle?
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signal sequence
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proteins that secreted from the cell have a signal sequence recognized by the signal recognition particle that results in their introduction into the rough ER during which process?
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translation
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what are some protein sorting disorders?
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alzheimer's disease, parkinson's disease, endocrine (hormone) disorders - receptors for some hormones are not delivered properly
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what are some results of abnormal protein folding?
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sickle cell, alzheimers, ALS, and other neurologica diseases can caused by improper protein folding
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what are the ultimate sources of new genes?
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mutations
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what are responsible for the huge diversity of genes found among organisms? effects of changes to the genetic information of a cell (or virus)
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mutations
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what is a change in a single nucleotide pair? (substitution, addition, deletion)
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point mutation
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which mutation is when one nucleotide pair is replaced with another?
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substitution
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point mutations can lead to which disorders?
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hemophilia, phenylketonura (PKU), tay-sachs, color-blindness, and cystic fibrosis
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what point mutations change a triplet's third nucleotide and do not change the encoded amino acid?
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silent (synonymous) point mutation
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which mutation form a new triple?
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missense
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which mutations form a stop codon (UAA, UAG, UGA) that typically eliminates protein function?
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nonsense point mutation
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which mutation is the addition of deletion of one nucleotide pair that alters the reading frame of a gene?
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a frameshift mutation
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what is changed because all codons "downstream" from the mutation are chaged and a stop codon frequently is formed?
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protein function
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which point mutation can change the amino acid sequence of the protein and thus can change the protein function?
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missense, nonsense, and frameshift
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what alters gene expression?
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some point mutations
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polyploidy means....
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many chromosomes
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what is the source of new alleles in populations?
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mutation
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describe the monohybrid crossing experiment?
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-demonstrate that each p generation breeds true for the trait of interest
-cross P individuals from each line to produce the F1 monohybrid offspring and analyze the F1 offspring phenotypes - cross the F1 monohybrid individuals with one another |
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did mendel replicate his monohybrid crossing experiments?
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yes
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the traits inherited from each parent do not mix in the offspring because genetic information is transmitted in discrete units of heredity called..
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genes
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what is hidden in a hetrozygote in one generation and can reappear in the next generation?
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a recessive trait
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what law states that only one allele of a gene enters each gamete because the two alleles of a gene are separated during meiosis?
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mendel's law of segregation
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in what, only one of the two inherited alleles is expressed in the phenotype?
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hetrozygotes
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what determines the genotype of an individual with a dominant phenotype is PP (homozygous dominant) or Pp (heterozygous)?
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testcross
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mendel wanted to determine if the two alleles of two different genes enter gametes as a linked pair or enter gametes in all possible allele combinations. which crossing experiment does this describe?
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mendel's dihybrid crossing experiment
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the two alleles of two different genes move independtly of one another into gametes during meiosis. which law is this?
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the law of independent assortment
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which law is due to the random orientation of homologous chromosomes at the center of the dividing cell during meiosis 1 in the F1 individuals?
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law of independent assortment
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which allele affects two or more aspects of phenotype?
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a pleiotropic allele
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what is an example of a pleiotropic affect?
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sickle-cell: misshapen red blood cells, poor circulation, pain, bone & kidney injury, lethargy, paralysis, and infection
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what occurs when both alleles of a heterozygote are expressed in the phenotype?
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co-dominance
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what occurs when a heterozygotes phenotype is intermediate between both parents?
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incomplete dominance
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Males or Females: have one X-chromosme so a recessive allele on this x-chromosome causes a dominant phenotype in males (red/green colorblindness, hemophiliia, duchenne's muscular dystrophy)
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males
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what is due to the mitochondrion genome that is inherited from the female parent?
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cytoplasmic inheritance
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what occurs when a traits is regulated by two or more genes?
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polygenic inheritance
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how many copies of a mutated allele causes an autosomal dominant disorder?
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one copy
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what hypothesis states that only one wild-type allele results in insufficient protein levels?
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Haplo-insufficiency hypothesis
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what is a lethal, autosomal dominant neurodegenerative diroder (1/10,000 people) that typically develops post-reproduction (35-40 years of age)?
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Huntington's disease (HC)
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which hypothesis account for the ability of one mutated allele to cause a dominant disorder?
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rogue protein and haplo-insufficiency hypothesis
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what develops when two loss of function alleles are inherited?
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autosomal recessive disorders
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which autosomal recessive disorder is due to a mutation in the chloride ion transporter gene?
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cystic fibrosis
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what is a lethal autosomal recessive disorder due to a mutation in the hexosaminidase-a gene that prevents GM2 ganglioside (a lipid) breakdown in the lysosome?
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tay-sachs
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what is an autosomal recessive disorder due to a mutation in the phenylalanine hydroxylase (PAH) gene on chromosome 12 that results in the conversion of phenylalanine to toxins?
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phenylketonuria (PKU)
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what autosomal recessive disorder is due to a mutation in one or more genes of the melanin biosynthesis pathway?
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albinism
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which autosomal recessive disorder can be prevented by adjusting diet at birth?
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PKU
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why does the lack of melanin due to albinism increase the risk of skin cancer?
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due to not being able to defend against UV light causes skin cancer
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x-linked recessive disorder require how many mutated alleles in females and in males?
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2, 1
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what is due to a mutation in one of the x-linked genes that codes for blood clotting factors VIII, IX, or XI?
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hemophilia
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what is due to a mutation in the red and green photoreceptor gene on the x-chromosome?
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red-green colorblindness
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33% or new cases of male red/green colorblindness are estimated to result from a mutation in which parent?
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the mother during meiosis
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