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854 Cards in this Set

  • Front
  • Back
What is heredity
the transmission of traits from one generation to the next
what is genetics
the scientific study of heredity and variation
what are the 2 methods of reproduction and explain
asexual- mitosis gives rise to 2 identical daughter cells
sexual- 2 parents contribute DNA to one offspring. The sperm & egg fuse during fertilization to give rise to a single cell that will develop into offspring
what is a life cycle
the genration to generation sequence of stages in the reproductive history of an organism
what forms the basis of variations we see in organisms?
homologous chromosomes
What are alleles?
alternative forms of a gene
how how sex chromosomes distinguished from other chromosomes
by being non homologus (females have XX & males have XY)
what is a human somatic cell
any cell other than gamete
what is karyotype
an ordered display of pairs of chromosomes from a cell
what are the steps of meiosis
interphase I of meiosis (chromosome replicate), meiosis I (homologus chromosomes seperate), meiosis II (sister chromatides seperate)
what happens during prophase I
homologus chromosomes become closely associated in synapsis, exchange segments via crossing over, and then seperate.
what happens in synapsis
homologus chromosomes loosely pair up, aligned gene by gene
what indicates that crossing over had occured?
presence of chiasma
what happens in metaphase I
paired homologus chromosomes line up at the metaphase plate, with one chromosome "facing" each pole. Then kinetochore microtubules attach to one of the 2 homologus chrsomosome, so that one homologue will be drawn to one pole, and the other homologue to the other pole.
what happens in anaphase I
pairs of homologus chromosomes seperate
what does the chiasmata do
hold homologues together
what happens during telophase I and cytokinesis
2 haploid daughter cells form
what happens during prophase II
a new spindle apparatus forms in each cell, and the nuclear membrane breaks down
what happens in metaphase II
chromosomes align along the metaphase plate in each cell and kinetochore microtubules from opposite poles attach to opposite sides of the same centromere
what happens in telophase II
the nuclear membranes re-form around 4 different clusters of chromosomes, and the chromosomes begin decondensing
What does cytokinesis do
seperates the cytoplasn and 4 haploid cells result
what are the steps in mitosis
prophase (chrmosome replicate), metaphase & telophase(chromosomes align at the metaphase plate), sister chromatids seperate during anaphase
compare mitosis and meiosis
1- mitosis conserves the # of chromosome sets, producing cells that are genetically identical to the parent cell
2-meiosis reduces the # of chromosome sets from 2 (diploid) to one (haploid), producing cells that differ genetically from eachother and from the parent cell
3- the mechanism for seperating sister chromatids is virtually identical in meiosis II and mitosis
what are 3 events unique in meiosis?
1-synapsis and crossing over in prophase I
2-at the metaphase plate, there are paired homologus chromosomes , instead of sister chromatids, that seperate and are carried to opposite poles of the cell
whats the original source of genetic diversity?
mutations (change in an organism's DNA)
what is parthenogenesis
development of an adult unfertilized egg which undergoes a mitotic division without cell cleavage to become a diploid cell
what 3 mechanisms contribute to genetic variation?
1-independant assortment of chromosomes
2-crossing over
3-random fertilization
what is the # of combinations possible when chromosomes assort independantly into gametes?
2^n where n is the haploid #
what is independant assortment
the results of alternative arrangements of maternal & paternal homologus chromosome pairs on the metaphase plate in meiosis I
what happens during crossing over?
homologus chromosomes pair up gene by gene and homologus portions of 2 nonsister chromatids trade places
what is random fertilization
the matter of chance of which 2 gametes fuse to form a zygote
what is synapotnemal complex
mechanism 4 double DNA strand damage repair
what does gene disorder refer to
the harmful effect a detrimental allele produces when it occurs at a significant frequency in a population
what are most human genetic disorders caused by
a mutated DNA sequence which encodes an altered protein
what is a pedigree
a family tree that describes the interrelationships of parents and children across generations.
what do the dominance/recessiveness relationships of alleles depend on?
the level at which we examine the phenotype
What is Tay-Sachs disease?
a dysfunctional enzyme causes an accumulation of lipids in the brain
For Tay-Sachs disease, what are the dominance/recessiveness relationships of alleles?
organismal level- the allele is recessive
biochemical level-the phenotype if incompletely dominant
molecular level- the alleles are codominant
What causes cystic fibrosis
mutation in the CFTR gene, which encodes a PM chloride channel protein. the mutation encodes a protein that is not efficiently delivered to the plasma membrane
what does the loss of CFTR at PM do?
it impairs the ability of cells to transport chloride ions into and out of the cell. Released Cl= causes the cells to release water (osmosis) and the water things the mucus. Without Cl- transport, there is less water, and the music thick and syrupy.
what is sickle cell disease caused by?
the substitution of a single amino acid in the hemoglobin protein in red blood cells.
What kind of disorder is sickle cell anemia?
a recessive inherited disorder in which afflicted individuals have defective hemoglobin, and thus are unable to properly transport oxygen to tissues.
what are the symptoms of sickle cell anemia
-physical weakness
-organ damage
-paralysis
is the allele dominant or recessive for sickle cell disease
organismal level- nonsickle allele is incompletely dominant to the sickle cell allele.
molecular level- the 2 alleles are codominant as both normal and abnormal (sick cell) hemoglobins are synthesized
What are the characteristics of sickle cells
-breakdown of red blood cells
-clumping of cells and clogging of small blood vessels
-accumulation of sickled cells in spleen
homozygous (sickle cell) wild types are susceptible to what?
malaria
if a phenotype is due to autosomal dominant allele, individuals who are homozygous or heterozygous for the trait will display which phenotype?
the dominant phenotype
What is an example of a late onset lethal dominant disorder?
Huntington's disease
What is Huntington's disease and what is it caused by?
it is a degenerative disease of the nervous system. its caused by defects in the huntington protein that leads to its gradual aggregation in the brain
whats the mutation in huntington's disease and why is it dominant?
trinucleotide repeat expansion disorder like Fragile-X syndrome which is a constriction at the tip of the X chromosome
what is the phenomenon known as anticipation?
when individuals are phenotypically normal, but their sons were affected, and later generations showed earlier onset and more severe symptoms.
what is the normal function of protein made by FMRI
to bind to mRNAs involved in neuron function and regulate translation
What happens if the FMRI protein is not made?
these mRNAs are not translated in sufficient amounts, the nerve cells die;loss of nerve cells can result in MR
What is Fragile X syndrome caused by
an expansion of CGG repeat
what repeat if Huntington's disease caused by
CAG repeat
What is Friedrich's ataxia caused by
GAA repeat
What is myotonic dystrophy caused by
CTG repeat
what happens when the polyglutamine tract expands
the protein must be folded correctly for its normal function but if the polyglutamine tract is expanded, the folding of this protein will not be normal
if a trait appears equally often in males and females, what is it likely to be?
autosomal
if males are much more likely to have the trait, what is it likely to be?
X-linked
An affected male produces
-carrier daughters
-normal sons
A carrier female produces
-carrier and normal daughters
-affected and normal sons
what is nondisjunction?
when the X chromosomes dont seperate
what is trisomy
3 chromosomes
what is monosomy
1 chromosome
non disjunction of sex chromosomes can result in:
-XXX triple-X females
-XXY males (Klinefelter syndrome)
-XO females (Turner syndrome)
-OY nonviable zygotes
-XYY males (Jacob syndrome)
what does deletion do
removes a chrmosomal segment
what does duplication do
repeats a segment
what does inversion do
reverses a segment within a chromosome
what does translocation do
moves a segment from one chromosome to another, nonhomologus one.
what is genomic imprinting
the phenotype depends on which parent passed along the alleles for those traits & it involves the silencing of certain genes that are "stamped" with an imprint during gamete production
Whats an example of genomic imprinting?
the mutant Igf2 allele inherited from the mother results in the mutant Igf2 not being expressed but the mutant Igf2 allele inherited from the father results in the normal Igf2 allele not being expressed
what are extranuclear genes (or cytoplasmic genes)
genes found in organelles in the cytoplasm, such as mitochondria and chloroplasts. theyre inherited maternally
what do mutations in mitochondrial DNA do
disrupt the mitochondria's ability to efficiently generate energy for the cell.
What are frequently observed features of mutations in mitochondrial DNA
-muscle weakness
-problems with movement
-diabetes
-loss of intellectual functions (dementia)
-hearing loss
-abnormalities involving the eyes and vision
mutations in four mitochondrial genes have been identified in people with what disease?
Leber hereditary optic neuropathy
what are multifactorial disorders
disorders with a genetic component plus environmental influence
What necessitated cellular specialization and cellular signaling?
the evolution of multicellular organisms
what is cell communication necessary for?
structural and functional integrity of tissues and organs
what is signal transduction
the process by which a cell converts an extracellular signal into a response
what is a hormone
an information-carrying molecule that is secreted from a cell, circulates in the body, and acts on target cells far from the signaling cell
how do polypeptides serve as hormones
theyre not lipid soluble; bind to receptors on surface of target cell
how do amino acid derivatives serve as hormones
most are not lipid soluble; bind to receptors on surface of target cell
how do steroids serve as hormones?
theyre lipid soluble; bind to receptors inside target cell
what is the overview of cell signaling?
1-reception (extracellular signal molecule binds to a receptor protein)
2-transduction (activation of an intercellular signaling pathway that is mediated by a series of signaling proteins)
3-response (one or more of these proteins interacts with a target protein)
what is transduction
when cascades of molecular interactions relay signals from receptors to target molecules in the cell
whats good about multistep pathways?
-can amplify a signal: a few molecules can produce a large cellular response
-provide more opportunities for coordination and regulation
what is phosphorylation of proteins
a major mechanism for regulating the activity of proteins, moving from an inactive to an active state.
what is a ligand
the signal molecule which fits into the receptor in a way thats similar to the interaction between a substrate and the catalytic site of an enzyme
what are the 3 main types of membrane receptors?
-G-protein-linked receptors
-receptor tyrosine kinases
-ion channel receptors
what are G proteins
peripheral membrane proteins located inside the cell that are closely associated with transmembrane signal receptors
when are G proteins activated
when they bind GTP
when are G proteins deactivated
when they hydrolyze the bound GTP and GDP
what do tyrosine-kinase receptors do
they mediate growth factors and local regulators that stimulate cells to grow and reproduce
what is a distinguished feature of the tyrosine-kinase receptor
it can activate many signal transduction pathways simultaneously, in contrast to the G protein receptor, which only activated a single pathway at a time
what are ion-channel receptors
oftern referred to as ligand-gated ion channel. when a signal molecule binds as a ligand to the receptor, the gate allows specific ions, such as Na+ or Ca+ through a channel in the receptor
What did it show when the activation of glycogen phosphorylase by epinephrine could not happen with purified components in a test tube
-epinephrine does not activate glycogen phosphorylase directly
-the plasma membrane is somehow involved
what are second messengers
small, non-protein, water-soluble molecules or ions that can readily spread throughout cells by diffusion
what is the most common second messenger
cyclic AMP (cAMP) and Ca++
how does cAMP work?
adenylyl cyclase, an enzyme in the plasma membrane, converts ATP to cAMP in response to an extracellular signal, phophodiesterase converts cAMP to AMP, quenching the signal.
what did Sutherland show about cAMP
that when epinephrine is bound to plasma membrane, cAMP is elevated and then glycogen is broken down to glucose
what happens with epinephrine is bound to its receptor site?
adenylyl cyclase is activated
what is PlP2
a membrane phospholipid thats cleaved by phospholipase C into inositol triphosphate (IP3) and diacylglycerol (DAG)
what are relay molecules
molecules that relay the signal from the receptor to the response
what do phosphatase enzymes do
remove the phosphates
what does cell signaling lead to
regulation of cytoplasmic activities or transcription
what is apoptosis
programmed or controlled cell suicide; a cell is chopped and packaged into vesicles that are digested by scavenger cells
what are caspases
main proteases (enzymes that cut up proteins) that carry out apoptosis
what can apoptosis be triggered by
-an extracellular death-signaling ligand
-DNA damage in the nucleus
-protein misfolding in the endoplasmic reticulum
what is a virus
a genome enclosed in a protective coat; viruses are infectious particles consisting of nucleic acid encases in a protein coat, and in some cases, a membranous envelope.
what is an isolated virus
a merely packaged set of genes going from one host to another.
how do viruses reproduce
using lytic or lysogenic cycles
what is the lytic cycle
a phage reproductive cycle that culminates in the death of the host cell. It also produces new phages and digests the host's cell wall, releasing the progeny viruses.
what is a virulent phage
a phage that reproduces only by the lytic cycle
what does late gene expression generate
capsid proteins and lytic enzymes
what is the lysogenic cycle
it replicates the phage genome without destroying the host. The viral DNA molecule is incorporated into the host cell's chromosome.
what is the integrated viral DNA known as
prophage (provirus)
what are temperate phages
phages that use both the lytic and lysogenic cycles
what are the 2 key variables on the basic scheme of viral infection and reproductions that are represented among animal viruses
1-the type of nucleic acid that serves as virus genetic material
2-the presence of absence of a membranous envelope
what is a viral genome usually
a single linear or circular molecule of nucleic acid
what is a capsid
a protein coat which encases a genome
what are viral envelopes
membranes cloaking their capsids; they're derived from the membrane of the host cell but also have some viral proteins and glycoproteins embedded within
what is a host range
the limited range of host cells which each type of virus can infect
how do viruses identify host cells
by a "lock and key" fit between proteins on the outside of virus and specific receptor molecules on the host's surface.
where is the broadcast variety of RNA genomes found
in viruses that infect animals
The genome is a template for what?
mRNA synthesis
The mRNA is a template for what?
viral genome replication
what are retroviruses
they're enveloped viruses possessing an RNA genome, and replicate via a DNA intermediate
what's an example of a retrovirus
Human immunodeficiency virus (HIV), the virus that causes AIDS
how may viruses damage or kills cells
by causing the release of hydrolytic enzymes from lysosomes
what are vaccines
harmless variants or derivatives of pathogenic microbes, that stimulate the immune system to mount defenses against the actual pathogen
what is AZT (azido thymidine)
a pyrimidine analogue used as an anti-HIV because it interferes with reverse transcriptase
what is the emergence of viral diseases due to?
1-mutation that alters virus host range or pathogenicity
2-spread of existing viruses from one species to another
3-dissemination of a virus from a small, isolated population to a larger population
what do RNA viruses (like influenza) tend to have high mutation rates?
because replication of their nucleic acid lacks proofreading
what are prions
infectious proteins that spread a disease; a misfolded form of a normal brain protein
what is genomics?
the study of all the genes in an organism and how they function together
what is bioinformatics
the application of computational methods to the storage and analysis of biological data
What are the 3 stages of the Human Genome Project
1-genetic (linkage) mapping
2-physical mapping
3-DNA sequencing
what is a linkage map (genetic map)
it maps the location of several thousand genetic markers on each chromosome
what is a genetic marker
a gene or other identifiable DNA sequence
What are recombination frequencies used for
to determine the order and relative distances between genetic markers
whats a physical map
it expresses the distance between genetic markers, usually as the number of base pairs along the DNA
how is a physical map constructed
by cutting a DNA molecule into many short fragments and arranging them in order by identifying overlaps
what are sequencing machines used for
to determine the complete nucleotide sequence of each chromosome
what is the whole-genome shotgun approach
powerful computer programs are used to order fragments into a continuous sequence
what are the 2 approaches to sequencing DNA
1-hierarchical sequencing
2-shotgun sequencing
what is comparative genomics
the analysis and comparison of genomes from different species. the purpose is to gain a better understanding of how species have evolved and to determine the function of genes and non-coding regions of the genome
what does conservation in primary sequence predict?
conservation in secondary and tertiary structure
how many base pairs does the human genome contain
about 3 million nucleotide base pairs
what is the average gene size
about 3000 bases, but sizes vary greatly
what is the total number of genes in a human
22,000
By how much do human DNA sequences differ from one another
less than .1%
what does the bulk of most eukaryotic genomes consist of
noncoding DNA sequences (junk DNA)
what are pseudogenes
former genes that have accumulated mutations and are nonfunctional
what are exons
regions of genes coding for protein or giving rise to rRNA and tRNA
what is simple sequence DNA
contains many copies of tandemly repeated short sequences
what is a short tandem repeat (STR)
a series of repeating units of 2-5 nucleotides
what is the basis of change at the genomic level
mutation
what is the evolution of the ancestral globin gene
1-duplication of ancestral gene
2-mutation in both copies
3-transposition to different chromosomes
-further duplications and mutations
what do errors in meiosis result in
an exon being duplicated on one chromosome and deleted from the homologus chromosome
what happens in exon shuffling
errors in meiotic recombination lead to some mizing and matching of exons, either within a gene or between 2 nonallelic genes
what may multiple copies of similar transposable elements do
facilitate recombination, or crossing over between different chromosomes
what can insertion of transposable elements within a protein-coding sequence do
block protein production
what can insertion of transposable elements within a regulatory sequence do
increase of decrease protein production
what do comparative studies of genomes do
-advance our understanding of the evolutionary history of life
-help explain how the evolution of development leads to morphological diversity
what are highly conserved genes
genes that have changed very little over time
what do highly conserved genes inform us about
relationships among species that diverged from each other a long time ago
what is the significant difference between mice and humans and chimps?
in the structure of genes and the activities of their protein products
what is HAR-1
rapidly evolving gene thats expressed in the brain & encodes a stable structural RNA that seems to be involved in regulating the expression of many other genes
what is HAR2
gene that regulates expression in the wrist and thumb during fetal development...contributes to morphological changes required for dexterity
what is AMY1
salivary amylase, facilitates starch digestion
what is LCT
lactase, in most species only expressed in nursing infants
whats the FOXP2 gene
its product turns on genes involved in vocalization
what is cancer
a growth disorder of cells
where do cancers originate from
a single cell which has become unable to regulate its growth(replication) and begins to proliferate in an uncontrolled manner, forming a tumor
what are tumors characterized by
deregulation of cell division and cell death
what is tumor caused by
either increased cell division or decreased apoptosis
what is tumorigenesis
a multi-step process by multiple genetic alterations that progressively transform normal cells into malignant cells
what are the 6 acquired capabilities of cancer cells
1-growth signal autonomy
2-evasion of growth inhibitory signals
3-evasion of apoptosis
4-unlimited replicative potential
5-angiogenesis
6-invasion and metastasis
what is mitogenic signaling transmitted to the nucleus via?
complex cytoplasmic circuits called "signal transduction" pathways
genes that normally regulate cell growth and division during the cell cycle include:
-genes for growth factors
-their receptors
-intracellular molecules of signaling pathways
what are oncogenes
cancer-causing genes
what are proto-oncogenes
normal cellular genes that code for proteins that stimulate normal cell growth and division
A DNA change that makes a proto-oncogene excessively active converts it to what?
an oncogene, which may promote excessive cell division and cancer
what is Ras
the first and foremost human oncogene
what is the Ras protein
encoded by the ras gene, its a G protein that relays a signal from a growth factor receptor to a cascade of protein kinases
what does Ras signaling do
upregulates levels of cyclin D, which is required for G1/S transition
Deregulating Ras signaling impacts which cellular activities
-cytoskeleton cell motility
-translation
-apoptosis
-cell-cell junctions
-endocytosis
-nuclear transport Ca+2 signaling
-membrane trafficking vesicle formation
-transcription
-cell-cycle progression
What is apoptosis (programmed cell death)
a latent, rapid cell suicide program that is activated by damaged or deranged cells, leading to their elimination
what is p53
the key effector of the apoptotic response; prevents the proliferation of damaged cells
what does p53 do if DNA damage is detected?
it initiates DNA repair pathway
what does p53 do if damage/stress is prolonged or severe
it promotes programmed cell death
how does p53 work?
it binds to specific DNA sits and activates the expression of certain target genes. The protein products of these target genes are the effectors of the p53 response, which includes cell cycle arrest (withdrawl), DNA repair, & programmed cell death (apoptosis)
what genetic changes accompany tumor progression in the colon
-loss of tumor suppressor gene APC
-activation of ras oncogene
-loss of tumor suppressor gene DCC
-loss of tumor suppressor p53
-additional mutations
what is the plasma membrane
the boundary that separates the living cell from its surroundings; it exhibits selective permeability, allowing some substances to cross it more easily than others
what are cellular membranes
fluid mosaics of lipids and proteins
what does amphipathic mean
they have both hydrophobic and hydrophilic regions
what do membrane lipids include
phospholipids and sterols (cholesterol and phytosterols)
what is a simple membrane
a phospholipid bilayer
what part of the protein is hydrophillic
the polar and charged amino acids
what part of the protein is hydrophobic
the nonpolar amino acids
what is membrane fluidity
membrane lipids drift laterally, and even "flip flop"
what is fluorescence photobleaching
1-label lipids with a fluorescent "tag"
2-focus a strong beam on a cell surface to bleach the label
3-watch how fast the label comes back from unbleached parts
what happens to membranes as temperatures cool
membranes switch from a fluid state to a solid state
what are integral proteins
at least partially inserted into membranes; most completely span out (even several times)
what are peripheral proteins
attached to the membrane surface, cytoskeleton, ECM but not inserted
when is the asymmetrical distribution of proteins, lipids, and associated carbohydrates in the plasma membrane determined
when the membrane is built by the ER and Golgi apparatus
what are transmembrane proteins
integral proteins that span that membrane
what are some functions of membrane proteins
1)transport
2)enzymatic activity
3)signal transduction
4)intercellular joining
5)cell-cell recognition
6)attachment to the cytoskeleton and extracellular matrix (ECM)
how do cells recognize each other
by binding to surface molecules, often carbohydrates, on the plasma membrane
do hydrophobic (nonpolar) molecules pass through the membrane rapidly?
yes
do polar molecules cross the membrane easily
no
what is diffusion
the net drift of molecules in the direction of lower concentration due to random thermal movement
what happens at dynamic equilibrium
many molecules cross one way at cross in the other direction
what is passive transport
the diffusion of a substance across a membrane without the expenditure of cellular energy
what is osmosis
the diffusion of water across a selectively permeable membrane
what is the direction of osmosis determined by
a difference in total solute concentration
what is tonicity
the ability of a solution to cause a cell to gain or lose water
what is an isotonic solution
solute concentration is the same as that inside the cell; no net water movement across the plasma membrane
what is a hypertonic solution
solute concentration is greater than that inside the cell; cell loses water
what is hypotonic solution
solute concentration is less than that inside the cell; cell gains water
what is osmoregulation
control of water balance
what do cell wall do
help maintain water balance
what happens to plant cells in a hypertonic environment
plant cells lose water & eventually, the membrane pulls away from the cell wall, a usually lethal effect called plasmolysis
what is facilitated diffusion
transport proteins speed movement of molecules across the plasma membrane
what do transport proteins do
allow passage of hydrophilic substances across the membrane
what are channel proteins
transport proteins that have a hydrophilic channel that certain molecules or ions can use as a tunnel
what are carrier proteins
transport proteins that bind to molecules and change shape to shuttle them across the membrane
what is a gated channel
a membrane channel whose permeability is regulated;facilitated or mediated transport system
what are 2 major types of gated channels involved in the opening of the channel
1-voltage-gated channel (response to changes in electrical potential)
2-ligand-gated channel (response to the binding of a molecule, such as a neurotransmitter, to a specific receptor)
what is active transport
the movement of a solute across a biological membrane such that the movement is directed upward in a concentration gradient (against the gradient) and requires the expenditure of energy
what is membrane potential
the voltages across each cells' membranes (electrical potential energy from opposite charge seperation)
what is the electrochemical gradient
2 combined forces which drive the diffusion of ions across the membrane
-a chemical force
-an electrical force
what is an electrogenic pump
a transport protein that generates the voltage across the membrane (membrane potential)
when does cotransport (couples transport) occur
when active transport of a solute indirectly drives transport of another solute
what does bulk transport across the plasma membrane occur by
exocytosis & endocytosis
what are vesicles
the way in whcich large molecules, such as polysaccharides and proteins, cross the membrane
what is exocytosis
when the cell secretes (exports) macromolecules by fusion of vesicles with the plasma membrane
what happens in endocytosis
the cell takes in macromolecules by forming vesicles from the plasma membrane
what are 3 types of endocytosis
-phagocytes (cellular eating): cell engulfs particle in a vacuole
-pinocytosis (cellular drinking):cell creates sesicle around fluid
-receptor-mediated endocytosis: binding of ligands to receptors triggers vesicle formation
what is receptor-mediated endocytosis
a process by which specific substances are brought into the cell that are in low concentration or only to be used in specific cell types
what is the living cell
a miniature chemical factory where thousands of reactions occur; it extracts energy and applies energy to perform work
what is metabolism
the totality of an organism's chemical reactions
what do catabolic pathways do
release energy by breaking down complex molecules into simpler compounds
what do anabolic pathways do
consume energy to build complex molecules from simpler ones
what is bioenergetics
the study of how organisms manage their energy resources
what is energy
the capacity to do work
what are different forms of energy
-heat
-chemical
-electrical
-mechanical
-radiant
what id potential energy
stored energy; energy that matter possesses because of its location or structure
what are examples of potential energy
-chemical
-nuclear
-gravitational
-mechanical
what is kinetic energy
energy of movement
what are examples of kinetic energy
-electrons
-atomos
-waves
-molecules
-objects
what is thermodynamics
the study of energy transformations
what does the 1st law of thermodynamics state?
the energy of the universe is constant; energy can be transferred and transformed, but it cant be created or destroyed
what does the 2nd law of thermodynamics state?
every energy transfer or transformation increases the entropy (disorder) of the universe, because some energy is always lost, usually as heat.
how does energy enter the ecosystem
as light
how is energy lost in the ecosystem
as heat
what does the free-energy change of a reaction tell us?
whether the reaction occurs spontaneously
what needs to happen for a chemical reaction to be spontaneous
the reactants must have more potential energy than the products and/or be more ordered than the product
when there's high potential energy, is there more or less order?
more order
what is a living system's free energy (G)
energy that is available to do work when temperature and pressure and uniform, as in a living cell
How do we determine how a metabolic reaction has changed the free energy of the cell?
We measure the change in free energy, delta G
what is the change in free energy?
G final state - G initial state
what is the change is free energy during a process related to
the change in enthalpy (delta H), and the change in entropy or disorder (delta S), times the temperature
what is the delta G is a negative number
the products have less free energy than the reactant and more disorder
The delta G needs to be what in order for the process to be spontaneous
negative delta G
what is free energy a measure of
a system's instability, its tendency to change to a more stable state; higher G to lower G
what is equilibrium
the state of maximum stability
whats an exergonic (energy toward) reaction
it proceeds with a net release of free energy and is spontaneous
what's an endergonic (energy toward) reaction
it absorbs free energy from its surroundings and is not spontaneous
what three main kinds of work does a cell do
-mechanical
-transport
-chemical
How do cell manage energy resources to do work
by energy coupling, the use of an exergonic process to drive an endergonic one
what does ATP do
drives endergonic reactions by phosphorylation, transferring a phosphate group to some other molecule, such as a reactant.
what are enzymes
proteins that carry out most catalysis in living organisms
what do enzymes do
stabilize associations between substrates (molecules that will undergo a chemical reaction)
what is the initial energy needed to start a chemical reaction called
the free energy of activation, or activation energy
what is a catalyst
a chemical agent that speeds up a reaction without being consumed by the reaction
what is the active site
the region on the enzyme where the substrate binds
what is the reactant that an enzyme acts on called
the enzyme's substrate
what does induced fit mean
that many enzymes change shape when they bind to the substrate
how can the active site lower an E_A_ barrier?
-orienting substrates correctly
-straining substrate bonds
-providing a favorable microenvironment
-covalently bonding to the substrate
what's an acid-base catalysis
enzyme chain transfer H+ to or from the substrate- a covalent bond breaks
what's covalent catalysis
a functional group in a side chain bonds covalently with the substrate
what's metal ion catalysis
metals on side chains loose or gain electrons
what are environmental factors that affect enzyme activity
-optimal temperature
-optimal pH
what are cofactors
nonprotein enzyme helpers, usually metal ions, (minerals) found in the active site participating in catalysis
what are coenzymes
nonprotein organice molecules required for proper enzymatic activity
what are inhibitors
molecules that bind to an enzyme to decrease enzyme activity
what do competitive inhibitors do
bind to the active site of an enzyme, competing with the substrate
how would chemical chaos result
if a cell's metabolic pathways were not tightly controlled
what is allosteric regulation
a protein's function at one site is affected by binding of a regulatory molecule at another site, called an allosteric site
what do allosteric inhibitors do
stabilize the inactive form of the enzyme, inhibiting activity
what do allosteric activators do
stabilize the active form of the enzyme, promoting enzyme activity
what is cooperativity
a form of allosteric regulation that can amplify enzyme activity
what are caspases
proteolytic enzymes
what is feedback inhibition
the switching off of a metabolic pathway by its end product
what is photosynthesis
the process that converts solar energy into chemical energy
how do autotrophs sustain themselves
without eating anything derived from other organisms
where do heterotrophs obtain their organic material from
other organisms
what do photoautotrophs do
use the energy of sunlight to make organic molecules from the water and carbon dioxide
why is only 5% of the sun's energy that reaches the Earth converted into chemical energy?
-not all wavelengths absorbed
-much energy is lost during conversion of light energy to chemical energy, and during the carbon fixation reactions
what are the 2 sets of reactions that photosynthesis consists of
-light dependent reactions
-light independent reactions
What do the light-dependent reactions produce
O2 from H2O
what do light-independent reactions produce
sugar from CO2
what are light dependent and light independent reactions linked by
electrons
what are chloroplasts
highly structured, membrane-rich organelles
what are thylakoids
internal vesicle-like structures: these are embedded with photosynthetic pigments, such as chlorophyll
what is grana (granum)
columns or stacks of thylakoids
what is stroma
semi-liquid surrounding thylakoids
what do light reactions convert
solar energy into NADPH & ATP and release molecular oxygen (splitting of water)
what does the calvin cycle convert
CO2, ATP, and NADPH into sugar (carbon fixation)
what is the electromagnetic spectrum
the entire range of electromagnetic energy, or radiation
what is wavelength
the distance between crests of waves
what are pigments
substances that absorb visible light
why do leaves appear green
because chlorophyll reflects and transmits green light
what is the main photosynthetic pigment
chlorophyll a
what are accessory pigments called
carotenoids
what do carotenoids do
absorb excessive light that would damage chlorophyll
what do accessory pigments like chlorophyll b do
broaden the spectrum used for photosynthesis
what is an absorption spectrum
a graph plotting a pigment's light absorption versus wavelength
what is a porphyrin ring
light-absorbing "head" of molecule; note magnesium atom at center
whats the hydrocarbon tail
it interacts with hydrophobic regions of proteins inside thylakoid membranes of chloroplasts; H atoms not shown
what is a photon
a discrete amount of light energy
what happens when a molecule absorbs a protein
one of its electrons is elevated to a higher orbital
what are photons absorbed
when the energy of the photon is equal to the difference between the ground state and the excited state of the electron
red photons raise electrons to which state
state 1
blue photons raise photons to which state
state 2
what is fluorescence
the afterglow when excited electrons fall back to the ground state and photons are given off
what is a photosystem
a reaction center associated with light-harvesting complexes
what are the 2 types of photosystems in the thylakoid membrane
1-photosystem II
2-photosystem I
photosystem II is best at absorbing what wavelength
680 nm
photosystem I is best at absorbing what wavelength
700 nm
what do photosystems I & II have in common
both have chlorophyll a; but they're associated with different proteins, which affects their absorption spectra
what are the 2 possible routes for electron flow
1-cyclic
2-linear
what is the predominant route of electron flow & explain
Linear (non cyclic) electron flow: light energy drives the synthesis of both NADPH and ATP by energizing both photosysystems in the thylakoid membrane
Describe mitochondria
-oxidative phosphorylation
-energy of electron comes from food
-protons are pumped from the matrix to the intermembrane space
-ATP is made in the matrix
-ATP is made utilizing NADH
Describe chloroplasts
-photophosphorylation
-energy of electron comes from sunlight
-protons are pumped from stroma into the thylakoid space
-ATP is made in stroma
-ATP is made without utilizing NADPH
what is carbon fixation
CO2 is incorporated into organic molecules that are already in the chloroplasts
what must happen for net synthesis of one G3P
the cycle must take place 3 times, fixing 3 molecules of CO2
G3P molecules produced by the Calvin cycle are often used to make what
glucose and fructose (combined to form sucrose)
what are the main photosynthetic products
sucrose & starch
what is the energy entering chloroplasts as sunlight stored as
chemical energy in organic compounds
what does energy flow into the ecosystem as
sunlight
what does energy leave the ecosystem as
heat
what does photosynthesis generate
O2 and organic molecules, which are used in cellular respiration
what is the most important source of chemical potential energy
electrons
What does hydrolysis of the bond between the 2 outermost phosphate groups result in?
formation of ADP and Pi (H2PO-4) in a highly exergonic reaction, with 7.3 kcal of energy released per mole of ATP hydrolyzed
what is energy coupling
when a reactant is phosphorylated, the exergonic phosphorylation reaction is paired with an endergonic reaction
when do endergonic reactions become exergonic
when the substrates of enzymes involved are phosphorylated
what are reduction-oxidation reactions (redox reactions)
a class of chemical reactions that involve the loss or gain of an electron
When does an electron lose potential energy
when it shifts from a less electronegative atom to a more electronegative atom, therefore the reduced version has more energy than the oxidized one
What is the partner that becomes reduced in cellular respiration when glucose is oxidized
nicotinamide adenine dinucleotide (NAD+)
What is a second electron acceptor in cellular respiration
flavin adenine dinucleotide (FAD)
what is the 4 step process of cellular respiration
1-glucose is broken down to pyruvate
2-pyruvate is processed to form acetyl-CoA
3-Acetyl-CoA is oxidized to CO_2_
4-compounds that were reduced in steps 1-3 (NADH and FADH_2_) are oxidized in reactions that lead to ATP production
what is glycolysis
a series of 10 chemical reactions, its the first step in glucose oxidation
what happens in glycolysis
glucose is broken down into 2 3-carbon molecules of pyruvate, and the potential energy released is used to phosphorylate ADP to form ATP
what are the 2 major phases of glycolysis
-energy investment phase
-energy payoff phase
what is an isomerase
an enzyme that rearranges a molecule into a structural isomer
what is substrate-level phosphorylation
when an enzyme transfers a phosphate group from a substrate molecule to ADP
what is coenzyme A
a cofactor; it accepts acetyl groups and transfers them to substrates
where does the citric acid cycle or Krebs cycle take place
in the mitochondrial matrix
whats the citric acid cycle
the acetyl group of acetyl CoA joins the cycle by combining with oxaloacetate, forming citrate. The next 7 steps decompose the citrate back to oxaloacetate, making the process a cycle
what is the electron transport chain (ETC)
the proteins involved in the redox reactions
How does electron transport generate ATP?
electron transfer in the electron transport chain causes proteins to pump H+ from the mitochondrial matrix to the intermembrane space
what is the H+ in electron transport referred to as
a proton-motive force, emphasizing its capacity to do work
what is ATP synthase
an enzyme complex consisting of an ATPase "knob" component (the F1 unit) and a membrane bound, proton-transporting base component (the F0 unit), connected by a "stalk."
what is chemiosmosis
the use of energy in a H+ gradient to drive cellular work
why is oxygen the most effective electron acceptor
because of its high electronegativity
what are smaller drops in free energy associated with
ATP synthesis
what are larger drops in free energy associated with
the production of NADH and FADH_2_
what is the sequence of energy flow during cellular respiration
glucose -> NADH ->electron transport chain -> proton-motive force ->
in the absence of O2, how is ATP produced
glycolysis couple with fermentation or anaerobic respiration to produce ATP
what does fermentation consist of
glycolysis plus reactions that regenerate NAD+, which can be reused by glycolysis
how much ATP does cellular respiration produce
38 ATP per glucose molecule
how much ATP does fermentation produce
2 ATP per glucose molecule
what is a characteristic of obligate anaerobes
they carry out fermentation or anaerobic respiration and cant survive in the presence of O2
what is a characteristic of facultative anaerobes
they can survive using either fermentation or cellular respiration
how are fatty acids broken down
by beta oxidation and yeield acetyl CoA
what is control of catabolism based mainly on
regulating the activity of enzymes at strategic points in the catabolic pathway
what is overnourishment
excessive intake of food energy with the excess stored as fat
what does insulin do
it promotes transport of glucose into body cells, and stimulates liver and muscle cells to store glucose as glycogen, blood glucose drops
what does the pancreas do
secretes the hormone glucagon into the blood
what does glucagon do
it promotes the breakdown of glycogen in the liver and the release of glucose into the blood
what is glucagon
a peptide hormone (29aa) that is synthesized by the alpha cells of the pancreas
what is the primary function of glucagon
to increase levels of glucose in the blodd
what is cell division
a process in which cells make 2 daughter cells that are genetically identical to the parent cell
what does cell division require
replication of genomic DNA, and then separation of the 2 copies of genomic DNA into daughter cells
what are the functions of cell division
1-reproduction
2-growth and development
3-tissue renewal
A cell cannot divide into 2, 2 into 4, etc. unless which 2 processes alternate?
1-doubling the genome (which is the total complement of DNA)
2-separating the duplicated genome into 2 identical halves
where does DNA replication begin
at the origin of replication
why is cell division in eukaryotes more problematic?
1-eukaryotes have more than 1 chromosome
2- eukaryotes have much more DNA/unit space
what is the eukaryotes' mechanism to separate chromosomes in the nucleus?
1-duplication of each chromosome during the S phase of the cell cycle produces a chromosome consisting of 2 identical sister chromatids that are attached
2-condense the chromosomes into a compact form
3-separate the sister chromatids
4-distribute these exact replicas equally between the 2 daughter cells
what are the phases that the cell cycle consists of
G1=cell growth and preparation of the chromosomes for replication
S=synthesis of DNA (replication)
G2=growth and preparation for chromosomal segreagation
M=2 parts: mitosis (nuclear division) and cytokinesis (division of the cytoplasm)
what is mitosis
the process by which cells divide their genetic material and nucleus (=nuclear division)
what is cytokinesis
division of the cytoplasm
what are chromosomes
a combination of DNA and proteins
what is chromatin
the DNA-protein complax which is organized and packaged by associated associated proteins
that maintain chromosomal structure and control gene activity
what are histones
basic proteins, acidic DNA coils tightly around histone core, resembles beads on a string
what is nucleosome
DNA wrapped around the core of 8 histone proteins
what is condensins
a complex of proteins which aids the scaffold of proteins
what are sister chromatids
2 copies of the replicated chromosome
what is the centromere
constriction in chromosome, contains DNA repeats that bind specific proteins
what is kinetochore
protein "disc" that will bind mitotic spindle
what is cohesin
complex of proteins holding replicated chromosomes together, at their centromeres, until they are properly configured for seperation
what are the 5 sub-phases of mitosis
-prophase
-prometaphase
-metaphase
-anaphase
-telophase
what happens just before mitosis begins
1-in S phase, chromosomes have been duplicated.
2-the seeds of the mitotic spindle (centrioles) begin to grow
what is the centrosome
microtubule-organizing center that nucleates the formation of the mitotic spindle
what is the mitotic spindle
a cytoskeletal machine composed of microtubules and associated proteins
what are the 3 classes of microtubules in the fully formed mitotic spindle
1-astral
2-kinetochore
3-overlap
what happens during prophase
the mitotic spindle appears to push the centrosomes away from eachother. The centrosomes are actually propelled toward opposite ends (poles) of the cell by the lengthening of the microtubules between them. chromosomes condense, with sister chromatids joined together
what happens during prometaphase
the nuclear envelope fragments. the microtubles from the spindle interact with the chromosomes
what is the metaphase plate
an imaginary plane equidistant between the poles in which the sister chromatids are all arranges in a line. it occurs because the spindle fibers are pushing and pulling one another with and equal and opposite force.
what happens during anaphase
sister chromatids are suddenly separated and each is pulled toward the pole to which it is attached by spindle fibers. each can now be considered a chromosome
what are cohesins
proteins that hold sister chromatids together
what happens during telophase
2 nuclei begin to form, surrounded by the fragments of the parent's nuclear envelope. chromatin become less tightly coiled. cytokinesis begins.
what did similar types of fusion experiments demonstrate
-if one cell is in S and the other is in G1, the G1 nucleus immediately entered S phase
-if a cell in M phase was fused to any other cell in any other phase, the second nucleus entered mitosis
-conclusion from these and other experiments is that events of the cell cycle are directed by a distinct cell cycle control system, a cyclically operating set of molecules that both triggers and coordinates key events
what is a checkpoint
the process by which an incomplete upstream event generates a signal that inhibits the initiation of downstream events. a checkpoint in the cell cycle is a critical control point where stop and go signals regulate the cycle.
where are the 3 major checkpoints found
in the G1, G2, and M phases
what may happen if the cell proceeds past a checkpoint
-insufficient cell size
-incomplete chromosome replication
-incomplete attachment of chromosomes to microtubules
what do checkpoint defects result in
-genomic instability
-mutability
-disarray
what are the molecules that induce progression through the cell cycle
cyclically activated protein kinases
what are the 2 types of proteins involved in cell cycle control
-cyclins
-cyclin dependent kinases
what are cyclins
proteins that are produced in synchrony with the cell cycle
what forms cyclin-dependent kinases (Cdks)
the complex of kinases and cyclin
whats an example of an internal signal
that kinetochores not attached to spindle microtubules send a molecular signal that delays anaphase
why do cancer cells grow out of control
-make required growth factors themselves
-have abnormal signaling pathways that fail to convey frowth factor signals or that are constitutively active
-have defects in Cdks or other cell cycle signaling machinery that normally insures DNA replication and mitosis occur only when conditions are favorable
what do treatments for metastasizing cancers include
high-energy radiation and chemotherapy with toxic drugs
why were peas a good experimental system
-they're easy and inexpensive to cultivate
-reproduce quickly
-can be raised in a small space, in large numbers
-amenable to genetic analyses
-come in many varieties
what does self pollination result in
true breeding lines
what would Mendel do in a typical breeding experiment
he would cross pollinate two contrasting true-breeding varieties. this mating or crossing produces a mixed variety (hybrid) and so is called a hybridization
what are the parents in hybridization called
the P generation
what are the hybrid offspring called
the F1 generation
what is produced when F1 hybrids self-pollinate
F2 generation
describe the process of cross-pollination
1-remove anthers from one plant
2-collect pollen from a different plant
3-transfer pollen to a stigma of the individual whose anthers have been removed
what is a gene
a segment of DNA that encodes for a protein or (more accurately) an RNA molecule.
what does Mendel's law of segregation state
that allele pairs seperate or segregate during gamete formation and randomly unite at fertilization
what are the 4 related concepts that contribute to Mendel's model that he proposed to account for his 3:1 pattern
1-there are alternative forms for genes called alleles and these different forms account for variations in inherited characters
2- for each character, an organism inherits 2 alleles, one from each parent
3-if 2 alleles at a locus differ, then one, the dominant allele determines the organism's appearance; the other recessive allele has no noticeable effect on the organism's appearance
4-the 2 alleles for each character segregate during gamete production and end up in different gametes
what is the punnet square a useful tool for
determining the ratios of specific offspring that could be expected from a particular breeding
what is an organism having a pair of identical alleles said to be?
homozygous for the gene controlling that character
what is an organism having the 2 different alleles
heterozygous for that gene (Pp)
what happens in dihybrid crosses
true breeding plants that differed in 2 characteristics were examined
what does the law of independent assortment state?
that each pair of alleles segregates independently of other pairs of alleles during gamete formation
how can we determine probability of any genotype or phenotype
by multiplying together the probability of an egg and sperm having a particular allele
what is continuous variation
the greater the number of genes influencing a character, the more continuous the expected distribution of character variation will be
what is incomplete dominance
the phenotype of the heterozygote is intermediate between those of the 2 homozygotes
what is codominance/multiple allelism
2 or more alleles affect the phenotype in seperate distinguishable ways, that is, several alleles are dominant over the recessive
what is epistasis
non allelic gene interaction that affects phenotype
what is pleiotropy
the ability of a gene to affect an organisms phenotype in many different ways
what is the information content of DNA in the form of?
specific sequences of nucleotides
what is gene expression
the process by which DNA directs protein synthesis, includes 2 stages: transcription & translation
what is the "one gene-one enzyme" experiment
they irradiated Neurospora with x-rays (which were known to induce mutations) and screened the survivors for mutants which could no longer grow on minimal medium, but could grow on complete medium, and also on minimal medium if it was supplemented with one essential nutrient
what is the link between genotype and phenotype
proteins
what is the central dogma that summarizes the flow of information in cells
DNA code for RNA, which codes for proteins.
how are the instructions for assembling amino acids into proteins encoded into DNA
there are 20 amino acids but there are only 4 nucleotide bases in DNA
what is the triplet code
a series of non-overlapping, three nucleotide words, called codons. one codon specifies one amino acid.
how is the genetic code redundant?
because amino acids are specified by more than one codon
how is the genetic code unambiguous
because any one codon always specifies the same one amino acid
what is the reading frame
after the start codon, subsequent codons are read in frame as a series of non-overlapping three letter words
what does insertion or deletion of a single base pair cause?
a "frameshift" mutation that will cause the genetic message to be misread.
what is transcription
RNA synthesis
what is the promotor
the DNA sequence where RNA polymerase attaches
what is a transcription unit
the stretch of DNA that is transcribed
what is the transcription initiation complex
the completed assembly of transcription factors and RNA polymerase bound to a promoter
what happens during initiation
after RNA polymerase binds to the promoter, the DNA strands unwind, and the polymerase initiates RNA synthesis at the start point on the template strand
what are introns
noncoding regions called intervening sequences
what are exons
other regions that are eventually expressed, usually translated into amino acid sequences
what occurs during splicing
it removes introns & joins exons, creating an mRNA molecule with a continuous coding sequence
what do spliceosomes consist of
a variety of proteins and several small nuclear ribonucleoproteins (snRNPs) that recognize the splice sites
what is the ribozyme
the RNA molecule has enzymatic activity. because it is single stranded, it can form various secondary structures, and specially modified bases contribute to catalytic activity.
what is translation
the process of protein synthesis using an mRNA template to specify the order of amino acids
what does translation require
the function of a very large number of mulecules
what happens in translation
-codons are translated sequentially into amino acids as a ribosome moves along an mRNA
-tRNAs act as adapters, bringing amino acids to the ribosome by the appropriate base pairing between the codon of the mRNA & the anti-codon of tRNA
-each different tRNA has a specific anti-codon that recognizes and base pairs with the codon of the mRNA
what do tRNAs function as
adaptors in reading information from RNA into synthesis of protein
how are molecules of tRNA different?
-each carries a specific amino acid on one end
-each has an anticodon on the other end
why is each tRNA used repeatedly
-to pick up its designated amino acid in the cytosol
-to deposit the amino acid at the ribosome
-to return to the cytosol to pick up another copy of that amino aicd
Describe structure of tRNA
-short and have characteristic secondary structure called a cloverleaf, which is stabilized by the presence of unusual bases, and intramolecular base pairing
-also contains a 3' CCA tail that is added post-transcriptionally and is the site at which amino acids are attached
which 2 regions of tRNA remain single stranded?
-the anti-codon
-the 3' amino acid attachment site
what are the 3 stages of translation
-initiation
-elongation
-termination
what are the 3 cavities on the ribosome into which a tRNA fits?
E, P site, and A site
what are the A & P sites on the ribosome for?
for incoming and resident tRNAs
what is the E site on the ribosome for
outgoing tRNAs
what is codon recognition
binding of charged tRNA to ribosome A site &hydrogen binding between codon & anti-codon)
what happens during the formation of a peptide bond?
an rRNA molecule catalyzes the formation of a peptide bond between the polypeptide in the P site (P=peptidy) with the new amino acid in the A site
what happens during translocation
the ribosome moves along the mRNA, one codon at a time
where does protein synthesis begin on free ribosomes?
in the cytosol
what allows translation to begin in prokaryotic cell while transcription progresses
lack of a nuclear envelope
hows a eukaryotic cell different from a prokaryotic cell
-the nuclear envelope separates transcription from translation
-extensive RNA processing occurs in the nucleus
what are mutations
changes in the genetic material of a cell or virus
what are point mutations
chemical changes in just one base pair of a gene
what does a change of a single nucleotide in a DNA template strand lead to
production of an abnormal protein
what are the 2 categories in which point mutation within a gene can be divided into
-base-pair substitutions
-base-pair insertions or deletions
what does a base-pair substitution do
replaces one nucleotide and its partner with another pair of nucleotides
what kind of mutations can a base-pair substitution cause
silent, missense, or nonsense mutations
what is special about silent mutations
they do not change the amino acid specified by the codon
what is special about missense mutations
they still code for an amino acid, but not the right amino acid
what is special about nonsense mutations
they change an amino acid codon into a stop codon, nearly always leading to a nonfunctional protein
what are insertions and deletions
additions or losses of nucleotide pairs in a gene
what are frame-shift mutations
single bases inserted or deleted, usually leads to nonfunctional proteins
when can spontaneous mutations occur
during DNA replication, recombination, or repair
by which mechanisms do mutagens cause mutations
-depurination
-deamination
-oxidation
what is depurination
loss of the purine (A or G) base from the nucleotide
what does deamination of cytosine to uracil result in
a C:T transition
what are ROS (reactive onxygen species)
superoxide, hydrogen peroxide, hydroxyl radicals
what does UV light form
pyrimidine dimers; stable covalent bonds between adjacent pyrimidines
what is DNA adducts
covalent bond between mutagen and DNA
what is organic chemistry
the study of compounds that contain carbon
what does electron configuration determine
the kinds and # of bonds an atom will form with other atoms
what are hydrocarbons
organic molecules consisting of only carbon & hydrogen
what are isomers
compounds with the same molecular formula but different structures and properties
what are structural isomers
have different covalent arrangements of their atoms
what are geometric isomers
have the same covalent arrangements but differ in spatial arrangements
what are enantiomers
isomers that are mirror images of each other
what are functional groups
the components of organic molecules that are most commonly involved in chemical reactions
what are the 7 most important functional groups
-hydroxyl group
-carboxyl group
-sulfhydryl group
-methyl group
-carbonyl group
-amino group
-phosphate group
what are the functional properties of a hydroxyl
-polar
-attracts water molecules
what are the functional properties of a carbonyl
a ketone and an aldehyde may be structural isomers with different properties
what are functional properties of carboxyl
-has acidic properties
-the covalent bond between oxygen and hydrogen is so polar that hydrogen ions ten to dissociate reversibly
what are the functional properties of amino
acts as a base; can pick up a proton from the surrounding solution
-ionized with a charge of 1+ under cellular conditions
what are the functional properties of sulfhydryl
2 sulfhydryl groups can interact to help stabilize protein structure
what are the functional properties of phosphate
-makes the molecule of which it is a part an anion
-can transfer energy between organic molecules
what is ATP?
adenosine triphosphate, the primary energy transferring molecule in the cell, it consists of an organic molecule called adenosine attached to a string of 3 phosphate groups
How do functional groups contribute to molecules?
they contribute to a molecule's solubility, polarity, stability, charge, and/or activity
what are the 4 most important atoms which make up 96% of the matter found in organisms
hydrogen, carbon, nitrogen, oxygen
what are trace elements
elements required in minute amounts
what is matter
anything that takes up space and has mass
what makes up matter
elements
what makes up elements
atoms
what is an atom
the smallest unit of matter that retains the properties of an element
what are molecules and compounds
when atoms are combines in fixed numbers
what makes up the nucleus
protons and neutrons
what is the neutron charge
0
what is the proton charge
+1
what is the electron charge
-1
what is the atomic #
# protons
what is the atomic mass
# protons + # neutrons in daltons (amu)
what are isotopes
atomic forms of the same element with different number of nuetrons
what are radioactive isotopes valuable as
-determining the age of samples
-cytotoxic and mutagenic agents
-induce mutations in DNA
-biological "tracers": radioactive labeling of biological molecules and following their fate in a cell or organism
what is energy
the capacity to cause change
what is potential energy
energy that matter had because of its location or structure
what is energy level
an electron's state of potential energy
what is an orbital
the 3-dimensional space (path) where an electron is found 90% of the time
what are valence electrons
electrons in the outermost shell
what are elements with a full valence shell
chemically inert
whats a covalent bond
the sharing of a pair of valence electrons by 2 atoms
what is electronegativity
an atom's attraction for the electrons in a covalent bond
whats special about a covalent bond
the atoms share the electron equally
whats special about a polar covalent bond
one atom is more electronegative, and the atoms dont share the electron equally
how are ionic bonds in a dry environment
strong (salt crystals form)
how are ionic bonds in a wet environment
weak (salt crystals dissolve in water)
when is a hydrogen bond formed
when a hydrogen atom covalently bonded to one electronegative atom is also attracted to another electronegative atom
what are weak chemical bonds called
Van der Waals Interactions
what is a molecule's shape determined by
the positions of its atoms' valence orbitals
what are chemical reactions
the making and breaking of chemical bonds
what are reactants
the starting molecules of a chemical reaction
what are products
the final molecules of a chemical reaction
what does polarity allow water molecules to do
form hydrogen bonds with each other
what are 4 of water's properties that facilitate an environment for life
-cohesive behavior
-ability to moderate temperature
-expansion upon freezing
-versatility as a solvent
what is cohesion
the phenomenon that collectively, hydrogen bonds hold water molecules together
what is adhesion
an attraction between different substances
what is surface tension
a measure of how hard it is to break the surface of a liquid
what is heat
a measure of the total amount of kinetic energy due to molecular motion
what is temperature
measures the intensity of heat due to average kinetic energy of molecules
what can water's high specific heat be traced to
hydrogen bonding
what is evaporation
transformation of a substance from liquid to gas
what is heat of vaporization
the heat a liquid must absorb for 1g to be converted to gas
what is evaporative cooling
the process of a liquid evaporating as its remaining surface cools
what are substances that dissolve in water called
hydrophillic
what are substances that don't dissolve in water called
hydrophobic
what is a colloid
a stable suspension of fine particles in a liquid
what is a hydration shell
a sphere of water molecules which surrounds an ion which is dissolved in water
what is molecular weight
the sum of all of the weights of all the atoms in a molecule
what is a mole
the # of grams of a substance that equals its molecular weight
what is molarity
# of moles of solute per liter of solution
what is pH defined by
-log[H+]
what are buffers
solutions in which the pH remains relatively constant when small amounts of acid or base are added
what is acid precipitation
rain, snow, or fog with a pH lower than 5.2
what does a release of CO2 from fossil fuel combustion contribute to
-a warming of earth called the "greenhouse" effect
-acidification of the oceans
whats a polymer
a high molecular weight compound consisting of long chains that may be open, closed, linear, branched, or cross linked
do condensation or dehydration reactions require of yield energy?
they require energy
do hydrolysis reactions require or yield energy
yield energy
whats a condensation reaction
monomer in, water out
whats a hydrolysis reaction
water in, monomer out
whats a carbohydrate
a carbon hydrate or hydrated carbon atoms
what are the types of carbohydrates?
-monosaccharides
-oligosaccharides
-polysaccharides
what is the general empirical formula for carbohydrates?
(CH2O)n
what do mono & disaccharides end in
the suffix "ose"
when is a disaccharide formed
when a dehydration reaction joins 2 monosaccharides
what is the bond that holds the disaccharide together called?
covalent bond, glycosidic linkage
what are the structure and function of a polysaccharide determined by
its sugar monomers and the positions of glycosidic linkages
what is starch used for
energy storage in plant cells
what is glycogen used for
energy storage in animal cells
what is cellulose used for
structural support in cell walls of plants and many algae
what is cellulose
a straight chain polysaccharide composed on glucose molecules linked by means of beta glycosidic bonds
what are polysaccharides made from
sugar monomers by removal of water (condensation synthesis)
what is amylose
the form os starch that is composed of long, unbranched chains of glucose units which are joined by means of glycosidic bonds
what is amylopectin
the form of starch that is composed of long, branched chains of glucose units which are joined by means of alpha and glycosidic bonds
what is glycogen
a highly branched homopolysaccharide of D-glocose units that is a major form of storage of carbohydrate in animals; the glucose units are linked by means of alpha and alpha glycosidic bonds
what is cellulase
an enzyme that digests cellulose
what is chitin
a structural polysaccharide, its found in the exoskeleton of arthropods, it provides structural support for the cell walls of many fungi
what are lipids
a diverse group of hydrophobic molecules
what is the unifying feature of lipids
having little or no affinity for water
what are the most biologically important lipids
-neutral lipids (fats (oils)
-phospholipids
-steroids
what are fats constructed from
glycerol and fatty acids
what is glycerol
a 3-carbon alcohol with a hydroxyl group attached to each carbon
what does a fatty acid consist of
a carboxyl group attached to a long carbon skeleton
how do fats form
via dehydration reactions
what do fats consist of
glycerol linked by ester linkages to 3 fatty acids
describe saturated fatty acids
have the max # of hydrogen atoms possible and no double bonds
describe unsaturated fatty acids
have one or more double bonds. can be commercially hydrogenated to make margarine or shortening
what do waxes contain
fatty acids combined with other alcohols and hydrocarbons
what is a phospholipid
two fatty acids and a phosphate group attached to a glycerol
what is amphipathic
hydrophobic + hydrophillic
how do phospholipids arrange themselves when in an aqueous environment
phospholipid bilayer or phospholipid micelle
what are steroids
lipids characterized by a carbon skeleton consisting of 4 fused rings
what are sterols
steroids with a polar-OH group on one end, and a non-polar hydrocarbon on the other end
what do steroid hormones control
development, behavior, and biochemical processes.
where does trans fat come from
commercial hydrogenation of oils. it changes the texture and shelf-life, but isnt natural & its unhealthy
what are the 2 types of nucleic acids
deoxyribonucleic acid (DNA)
ribonucleic acid (RNA)
what is DNA
genetic material that organisms inherit from their parents
what does DNA contain
the information that cells reuire to function; genes that code for proteins
what are the components of nucleotides
-nitrogenous base
-pentose sugar
-phosphate
what are the 2 families of nitrogenous bases
-pyrimidines: have single 6-membered ring
-purines: have a 6-membered ring fused to a 5-membered ring
what are sugars
poly-hydroxyaldehydes or ketones
what is glucose
a hexose containing 6 carbon atoms
what is ribose
a pentose containing 5 carbon atoms
how is the nitrogenous base linked to the other ribose sugar
through a bond denoted as the N-beta glycosyl bond
whats a double helix
2 polynucleotides spiraling around an imaginary axis in a DNA molecule
whats antiparallel
the arrangement in the DNA double helix,where the 2 backbones run in opposite 5'->3' directions from eachother
how do the nitrogenous bases in DNA pair up
-adenine with thymine
-guanine with cytosine
in all cellular DNAs regardless of the species:
-the # of adenosine residues is equal to the # of cytidine residues
-the # of guanosine residue is equal to the # of cytidine residues
-sum of purine residues equals sum of pyrimidine residues
how are bases from 2 strands held together by
hydrogen bonds
what is base pairing used for?
-preserving info
-repairing mistakes
-transferring info
what is the primary structure of RNA
single strand of ribonucleotides linked by phosphodiester bonds
whats the secondary structure of RNA
stem-loop hairpins may form by internal H-bonding
what are the chemical differences between DNA & RNA
-uracil base vs. thymine base
-ribose sugar vs. deoxyribose sugar
what's the function of enzymatic proteins
selective acceleration of chemical reactions
what's the function of structural proteins
support
what's the function of storage proteins
storage of amino acids
what's the function of transport proteins
transport of other substances
what's the function of hormonal proteins
coordination of an organism's activities
what's the function of receptor proteins
response of cell to chemical stimuli
what's the function of contractile and motor proteins
movement
what's the function of defensive proteins
protection against disease
what are amino acids
organic molecules with carboxyl and amino groups
why do amino acids differ in their properties
due to different side chains, called R groups
what is a protein
a polymer of amino acids linked to one another by peptide bonds
what is a peptide bond formation called
dehydration or condensation
what does a functional protein consist of
one or more polypeptides twisted, folded, and coiled into a unique shape
what determines a protein's 3-dimensional conformation
the sequence of amino acids (primary structure)
what do the coils and folds of secondary structure result from?
hydrogen bonds between repeating constituents of the polypeptide backbone
what are the typical secondary structures of proteins
-a coil called an alpha helix
-a beta pleated sheet
what can depict a protein's conformation
ribbon models and space-filling models
what is tertiary structure of proteins determined by
interactions among various side chains (R groups)
what are the possible interaction between R groups?
-hydrogen bonds
-ionic bonds
-hydrophobic interactions
-van der Waals interactions
what are disulfide bridges
strong covalent bonds
when does quarternary structure result?
when 2 or more polypeptide chains form one macromolecule
what is collagen
a fibrous protein consisting of 3 polypeptides coiled like a rope
what is hemoglobin
a globular protein consisting of 4 polypeptides
what is sickle-cell disease & what does it result from
an inherited blood disorder, results from a single amino acid substitution in the protein hemoglobin
what can cause a protein to unravel
alternations in pH, salt concentration, temperature, or other environmental factors
what is denaturation
loss of a protein's native conformation
what are chaperonins
protein molecules that assist the proper folding of other proteins
what has protein mis-folding been implicated in
cystic fibrosis, Alzheimer's, and Parkinson's
what is the cell theory
-all organisms are made of cells
-the cell is the functional unit of life, the simplest collection of matter that can live
-all cells are descended from earlier cells
what are the basic features of all cells
-plasma membrane
-semifluid substance called cytosol
-chromosomes (carry genes)
-ribosomes (make proteins)
what are the 2 types of cells
prokaryotic or eukaryotic
what is a prokaryote
a simple, unicellular organism, such as bacterium, that lacks a discrete nucleus surrounded by a nuclear membrane, and that contains its genetic material within a single chromosome
what is a eukaryotic
DNA exists in chromosomes, in a nucleus thats bounded by a membranous nuclear envelope. eukaryotic cells have membrane-bound organelles. eukaryotic cells are generally much larger than prokaryotic cells.
what are the most common shapes of prokaryotes
-spheres (cocci)
-rods (bacilli)
-spirals
what do prokaryotic cells lack?
nuclei and membrane-bound organelles
what is the most important feature of nearly all prokaryotic cells & why
their cell wall, which maintains cell shape, provides physical protection, and prevents the cell from bursting in a hypotonic environment
what is peptidoglycan
a network of sugar polymers cross-linked by polypeptides.
what does penicillin do
it inactivates the enzyme that cross-links the strands, weakening the cell wall, eventually destroying the cell.
what is a capsule
an outer sticky, jelly-like coat made of lipo-poly-saccharide around the bacteria
what is the gram stain used for
for scientists to classify many bacterial species into Gram-positive and Gram-negative groups based on cell wall composition
what is different about gram-negative bacteria
have less peptidoglycan and an outer membrane that can be toxic, and they are more likely to be antibiotic resistant
what is a large surface (cell membrane) needed for
for the cell to interact with the environment
why are cells divided into compartments
to reduce diffusion distances and to separate "incompatible" reactions and their products
describe bright-field microscopy
light passes directly through these human cells. unless natural pigments are present, there is little contrast and details are not distinguished
describe phase-contrast microscopy
contrast in the image is increased by emphasizing differences in refractive index (the capacity to bend light), thereby enhancing light and dark regions in the cell.
describe differential interference-contrast microscopy
it uses 2 beams of polarized light. the combined images look as if the cell is casting a shadow on 1 side
describe fluorescence microscopy
a natural substance in the cell or a flourescent dye that binds to a specific cell material is stimulated by a beam of light, and the longer wavelength fourescent light is observed coming directly from the eye
describe confocal microscopy
it uses fluorescent materials but adds a system of focusing both the stimulating and emitted light so that s single plane through the cell is seen.
describe stained bright-field microscopy
a stain added to preserve cells enhances contrast and reveals details not otherwise visible.
what are the 2 basic types of electron microscopes
-scanning electron microscopes: focus a beam of electrons onto the surface of a specimen, providing images that look 3D
-transmission electron microscopes (TEMs): focus a beam of electrons through thin sections of a specimen
what are TEMs used for
mainly to study the internal ultrastructure of cells
describe transmission electron microscopy
a beam of electrons is focused on the object by magnets. objects appear darker if they absorb the electrons. if the electrons pass through they are detected on a fluorescent screen.
describe scanning electron microscopy
directs eletrons to the surface of the sample, where they cause other electrons to be emitted. these electrons are viewed on a screen. the 3-dimensional surface of the object can be visualized.
describe freeze-fracture microscopy
cells are frozen and then a knife is used to crack them open. they crack often passes through the interior of plasma and internal membranes. the "bumps" that appear are usually large proteins embedded in the interior of the membrane
what does cell fractionation do
it takes cells apart and seperates the major organelles from one another, by size, using high-speed centrifuges
what is the plasma membrane
the membrane at the boundary of every cell that acts as a selective barrier, thus regulating the cells chemical composition
what is the nucleus
the genetic library of the cell, contains most of the cell's genes
what is chromatin
the complex of DNA and protein that makes up the eukaryotic chromosome. when the cell isnt dividing, it isnt visible with a light microscope
what is nucleolus
a region in the nucleus active in the synthesis of ribosomal RNA and ribosome assembly
what is a nuclear envelope
the double membrane in eukaryotes that encloses the nucleus separating it from the cytoplasm
what is nuclear lamina
the nuclear side of the envelope containing protein filaments (intermediate filaments) that maintain the shape of the nucleus
what is nuclear pore complex
the multi-protein structure forming a channel through the nuclear envelope allowing selected molecules to move between the nucleus and cytoplasm
what is a ribosome
a particle composed of ribosomal RNA and ribosomal proteins that associates with messenger RNA and catalyzes the synthesis of protein
which 2 locations do ribosomes carry out protein synthesis in
-in the cytosol (free ribosomes)
-on the outside of the endoplasmic reticulum (ER) or the nuclear envelope (bound ribosomes)
what does the endomembrane system do
it regulates protein traffic and performs metabolic functions in the cell
what are the components of the endo (within) membrane system
-nuclear envelope
-endoplasmic reticulum
-golgi apparatus
-lysosomes
-vacuoles
-plasma membrane
what is the endoplasmic reticulum
a network of membranous tubules and sacs within the cytoplasm of eukaryotic cells, where lipids are synthesized and membrane bound proteins and secretory proteins are made
what is the different between smooth ER & rough ER
smooth ER lacks ribosomes but rough ER has ribosomes studding its cytosolic surface
what is smooth ER involved in
lipid synthesis, carbohydrate metabolism, detoxification (liver), calcium storage
what is rough ER involved in
the synthesis of membrane bound proteins and secretory proteins, which are distributed by transport vesicles
what is the golgi apparatus
the shipping and recieving center
what is cisternae
flattened membranous sacs in the golgi apparatus
what are the functions of the golgi apparatus
-modifies proteins and lipids made in the ER, and sorts and packages them into transport vesicles
-manufactures macromolecules, such as cell wall polysaccharides in plants and extracellular matrix glycosaminoglycans in animal cells.
what is a lysosome
a membranous sac of hydrolytic enzymes found in animal cells. its produced by the ER + Golgi
what is tay-sachs caused by
mutation in gene encoding an enzyme that digests gangliosides, a fatty acid found in brain and nerve cells.
what are vacuoles
membrane-bound sacs with varied functions
what are food vacuoles formed by
phagocytosis
what do contractile vacuoles do
pump excess water out of cells
what do central vacuoles do
hold organic compounds and water
what is tonoplast
membrane that surrounds the central vacuole
what is mitochondria the site of
cellular respiration
what are chloroplasts the sites of
photosynthesis
what do mitochondria produce
ATP, the cells energy currency
whats the structure of mitochondria
they have a smooth outer membrane and a higly folded inner membrane. the inner membrane creates 2 compartments: intermembrane space and mitochondrial matrix. the membrane folds, called cristae, present a large surface are for membrane bound enzyme complexes that synthesize ATP
what does chloroplast structure include
-thylakoids, membranous sacs
-stroma, the internal fluid
what is the peroxisome
a membrane-bounded organelle that uses molecular oxygen to oxidize organic molecules. in the process, hydrogen peroxide is produced.
what are the functions of peroxisome?
-detoxification of alcohols and other compounds
-breaking down fatty acids
what is the cytoskeleton
a network of fibers that organizes structures and activities in the cell
what does the cytoskeleton do
helps to support the cell and maintain its shape
what are the 2 networks that comprise the cytoskeleton
-microfilaments
-intermediate filaments
-microtubules
what are microtubules
hollow rods about 25nm in diameter and variable length
what are functions of microtubules
-shaping the cell
-guiding movement of organelles
what is the centrosome
a "microtubule-organizing center: from which spindle microtubules grow out of
how do microtubules polymerize (grow) & depolymerize (shrink)
by adding and removing heterodimers
what are kinesins
motor molecules that move various types of vesicles along microtubule tracks.this process is ATP dependent.
what does cilia do
it circulates fluids, moves egg into oviduct, lines air passages to sweep mucus containing bacteria, pollutants, etc.
what is flagella required for
sperm motility
what is the common ultrastructure that cilia and flagella share
a core of microtubules , called an axoneme, sheathed by the plasma membrane
what is dynein
a motor protein which "walks" along the microtubules causing them to bend
what are microfilaments
solid rods about 7nm in diameter, built as a twisted double chain of actin subunits
what is the structural role of microfilaments
to bear tension, resisting pulling forces within the cell
what are microfilaments formed by
actin subunits
what is actin
the most abundant intracellular protein in a eukaryotic cell
what are the 2 forms in which actin exists
-G-actin, a globular monomer
-F-actin, a linear polymer of G-actin subunits
what does each actin molecule contain
a Mg+2 complexed with either ATP or ADP
what is cytoplasmic streaming
a circular flow of cytoplasm within cells
what do intermediate filaments do
support cell shape and fiz organelles, including the nucleus, in place, and are more permanent than MT and MF
what are nuclear lamins
dense mesh under nuclear envelope that anchors the chromosomes and shapes the nucleus
what are vimentins
the type of IF found in fibroblasts (connective tissue)
what are extracellular structures of the cell
-cell walls of plants
-the extracellular matrix (ECM) of animal cells
-intercellular junctions
what is the cell wall
an extracellular structure that distinguishes plant cells from animal cells;it protects the plant cell, maintains its shape, and prevents uptake of water
what are cell wall made of
cellulose microfibrils embedded in a matrix of other highly branched polysaccharides and protein
what is middle lamella
thin layer of "sticky" polysaccharides between primary walls of adjacent cells
what are plasmodesmata
channels between adjacent plant cells, ions, small molecules pass
what are the functions of the ECM (extracellular matrix)
-protection
-support
-adhesion
-movement
-regulation
what are integrins
membrane proteins that connect ECM to cytoskeletal-associated proteins
what is glycoprotein
large proteins like collagen and fibronectin, with small CHO
what happens at tight junctions
membranes of neighboring cells are pressed together, preventing leakage of extracellular fluid
what do desmosomes (anchoring junctions) do
fasten cells together into strong sheets
what do gap junctions (communication junctions) do
provide cytoplasmic channels between adjacent cells
what does the chromosome theory of inheritance state
-mendelian genes have specific loci (positions) on chromosomes
-chromosomes undergo segregation and independent assortment
what does the law of segregation state
that the 2 alleles for each gene separate during gamete formation
what does the law of independent assortment state
alleles of genes on non homologous chromosomes assort independently during gamete formation
where does the first solid evidence associating a specific gene with a specific chromosome come from
Thomas Hunt Morgan, an embryologist
what make fruit flies a convenient organism for genetic studies
-they breed at a high rate
-a generation can be bred every 2 weeks
-they have only 4 pairs of chromosomes
what is wild type
normal phenotype
what are mutant phenotypes
traits alternative to the wild type
what does the chromosomal theory of inheritance state
that genes are present on chromosomes
what are linked genes
genes located on the same chromosome that tend to be inherited together
what is genetic recombination
the production of offspring with combinations of traits differing from either parent
what are parental types
offspring with a phenotype matching one of the parental phenotypes
what are recombinant types or recombinants
offspring with nonparental phenotypes (new combinations of traits)
what does crossing over of homologous chromosomes do
it breaks the physical connection between genes on the same chromosome
what is a genetic map
an ordered list of the genetic loci along a particular chromosome
what did Alfred Sturtevant predict about genes
that the farther apart 2 genes are, the higher the probablility that a crossover will occur between them and therefore the higher the recombination frequency
what is a linkage map
a genetic map of chromosome based on recombination frequencies
what are cytological maps
they indicate the position of genes with respect to chromosomal features
what are single nucleotide polymorphisms (SNPs)
anonymous markers which can be detected by molecular techniques, such as PCR and DNA sequencing
what are hermaphrodites
organisms that have both male and female organs and produce both typed of gametes
what are dioecious organisms
they come in 2 sexes, male or female, and each individual will produce only 1 type of gamete
an individual who inherits 2 X chromosomes usually develop as what?
a female
an individual who inherits an X and a Y chromosome usually develops as what?
a male
what a SRY
sex determining region Y chromosome, its a transcription factor required from testis production
what is DAZ
another Y chromosome gene required for sperm production
what can the differences between Y chromosomes be used for?
to establish or reconstruct paternal lineages
what is a Barr Body
when one X chromosome per cell condenses into a compact object
what is a sex-linked gene
a gene located on either sex chromosome
what does a female need for a recessive sex-linked trait to be expressed?
2 copies of the allele
what does a male need for a recessive sex-linked trait to be expressed?
one copy of the allele
what are some disorders caused by recessive alleles on the X chromosome in humans?
-color blindness
-duchenne muscular dystrophy
-hemophilia
what did James Watson and Francis Crick introduce?
an elegant double-helical model for the structure of deoxyribonucleic acid, or DNA
what does the DNA program direct the development of?
biochemical, anatomical, physiological, and behavioral traits
what is the phenomenon transformation?
a change in genotype and phenotype due to assimilation of foreign DNA
what are bacteriophages (phages)
viruses widely used in molecular genetics research
what happens during DNA replication
the parent molecule unwinds, and 2 new daughter strands are built based on base-pairing rules
what does watson and crick's semiconservative model of replication predict?
that when a double helix replicates, each daughter molecule will have one old strand and one newly made strand
what is conservative replication
the original chromosome is copied but remains unchanged. one chromosome is composed of old strands and the other of new strands
what is dispersive replication
the replication process generates 2 new chromosomes, with new and old sections of DNA mixed together randomly.
where does replication begin
at the origins of replication, where the 2 DNA strands are separated, opening up a replication "bubble"
what is the rate of elongation in bacteria?
500 nucleotides per second
what is the rate of elongation in human cells?
50 per second
what is a nucleoside triphosphate
each nucleotide that is added to a growing DNA strand
what happens as each monomer of dNTP joins the DNA strand?
it loses 2 phosphate groups as a molecule of pryophosphate
what is the initial nucleotide strand?
a short RNA primer
what is primase?
an enzyme that can start RNA chain from scratch and adds RNA nucleotides one at a time using the parental DNA as a template
what is a replication fork?
a Y-shaped region where new DNA strands are elongating
what are helicases
enzymes that untwist the double helix at the replication forks (the protein pulls itself along the DNA strand, mechanically separating the strands, using energy from ATP hydrolysis)
what does single-stranded binding protein do
it binds to and stabilizes single-stranded DNA until it can be used as a template (these are proteins with "+" charged domains that interact with DNA, and other domains that interact with 1 another)
what does topoisomerase do
it corrects "overwinding" ahead of replication forks by breaking, swiveling, and rejoining DNA strands
what is the lagging strand
the other new strand of DNA; it is synthesized as a series of segments called Okazaki fragments, which are joined together by DNA ligase
what is the function of the protein helicase
unwinds parental double helix at replication forks
what is the function of the single-strand binding protein
binds to and stabilizes single-stranded DNA until it can be used as a template
what is the function of the protein topoisomerase
relieves "overwinding" strain ahead of replication forks by breaking, swiveling, and rejoining DNA strands
what is the function of the protein primase
synthesizes an RNA primer at 5' end of leading strand and of each okazaki fragment ofl agging strand
what is the function of the protein DNA pol III
using parental DNA as a template, synthesizes new DNA strand by covalently adding nucleotides to the 3' end of a pre-existing DNA strand or RNA primer
what is the function of the protein DNA pol I
removes RNA nucleotides of primer from f' end and replaces them with DNA nucleotides
what is the function of the protein DNA ligase
joins 3' end of DNA that replaces primer to rest of leading strand and joins okazaki fragments of lagging strand
why can DNA polymerase remove the mismatched base in DNA
because its epsilon subunit acts as a 3'-5' exonuclease that removes deoxyribonucleotides from DNA
what is a nuclease
an enzyme that breaks phosphodiester bonds that join nucleotides
when does mismatched repair occur?
when mismatched bases remain after DNA synthesis is complete. mismatch repair enzymes recognize the mismatched pair, remove a section of the newly synthesized strand that contains the incorrect base, and fill in the correct bases.
what are telomeres
bona fide DNA ends that dont prevent the shortening of DNA molecules, but they do postpone the erosion of genes near the ends of DNA molecules
how have cancer cells attained immortality?
by overexpressing the gene that encodes an enzyme called telomerase
what happens during recombinant DNA?
nucleotide sequences from 2 different sources, often 2 species are combines in vitro into the same DNA molecule
what do restriction enzymes do
recognize DNA sequences termed restriction (cleavage) sites
what is palindromes
when it is the same sequence read 5' to 3'
why can any 2 restriction fragments be joined together
because they have complementary overhangs (single-stranded) regions that are stabilized by hydrogen bonding
what does cloning a gene mean?
that a gene (or piece of DNA) is isolated, ligated into a suitable cloning vector, and amplified
what are plasmids
double stranded circular DNA, the most common cloning bectors
what must a cloning vector contain to be useful?
-origins of replication (E. coli)
-selectable marker
-unique restriction sites to allow ligation of fragment
what is a genomic library
a collection of recombinant molecules which represent the entire genome of an organism
what is a bacterial artificial chromosome (BAC)
a large plasmid that has been trimmed down and can carry a large DNA insert
what do cDNA libraries contain?
recombinant fragments that correspond only to the small portion of the genome that is actually expressed
how is a complementary DNA (cDNA) library made?
by cloning DNA made in vitro by reverse transcription of all the mRNA produced by a particular cell
what a gel electrophoresis
a technique that uses a gel as a molecular sieve (filter) to separate nucleic acids or proteins by size
what is hybridization
a phenomenon in which your DNA of interest is denatured and allowed to re-anneal with a "probe" which is complementary to it
what is an expression vector
a cloning vector that contains a highly active prokaryotic promoter
what 3 step cycle brings about a chain reaction that produces an exponentially growing population of identical DNA molecules
heating, cooling, and replication
what 3 steps does each PCR involve?
-denaturation
-annealing of primers
-DNA synthesis
what sources has PCR amplified DNA from?
-tiny amount of blood, seme, saliva, skin cells, hair follicles, etc found at crime scenes
-single embryonic cells for rapid prenatal diagnosis of genetic disorders
-DNA of viral genes from cell infected with difficult to detect viruses such as HIV or hepatitis viruses
-fragments of ancient DNA
what do some polymorphisms have to do with?
the copy number of STR's (short tandem repeats)
how can relatively short DNA fragments by sequenced?
by the dideoxy chain termination method
what do DNA microarray assays do
compare patterns of gene expression in different tissues, at different times, or under different conditions
what happens during in vitro mutagenesis
mutations are introduced into a cloned gene, altering or destroying its function
how can gene expression be silenced?
using RNA interference (RNAi)
what does organismal cloning produce?
one or more organisms genetically identical to the "parent" that donated the single cell
what is a totipotent cell
a cell that can generate a complete new organism
what happens during nuclear transplantation
the nucleus of an unfertilized egg cell or zygote is replaced with the nucleus of a differentiated cell
what is a stem cell
a relatively unspecialized cell that can reproduce itself indefinitely and differentiate into specialized cells of one or more types
what are embryonic stem cells
stem cells isolated from early embryos at the blastocyst stage
what is the aim of stem cell research
to supply cells for the repair of damaged of diseased organs
what is gene therapy
-the alteration of an afflicted individual's genes as a means of disease treatment
what requirement is there for gene therapy of somatic cells to be permanent
the cells that recieve the normal allele must be the ones that multiply throughout the patient's life
what are vectors used for
delivery of genes into specific types of cell
what medically important proteins can be produced in bacteria?
-human insulin
-atrial peptides
-interferon
-tissue plasminogen activator
-human growth hormone
how are transgenic animals made
by introducing genes from one species into the genome of another animal
what are transgenic animals
pharmaceutical "factories", producers of large amounts of otherwise rare substance for medical use
what can genetic engineering be used for
to modify the metabolism of microorganisms
what is EnviroPig engineered for
to carry the gene for the enzyme phytase, which breaks down phosphorus in feed and reduces excretion of harmful phosphates in the environment
why has adoption of genetically modified (GM) crops resisted in some areas?
because of questions abouot
-crop safety for human consumption
-movement of genes into wild relatives
-loss of biodiversity