BIOL 1000 Final Exam Notes Google PDF
BIOL 1000 Final Exam Notes Google PDF
Light serves 2 func ons: 1) a source of energy that directly or indirectly sustains virtually all organisms.
2) light provides organisms with info about the physical world that surrounds them
- Cell theory
o All organisms are composed of one or more cells
o The cell is the basic structural and func onal unit of all living organisms
o Cells arise only from the division of pre-exis ng cells
- If cells are broken open, the property of life is lost
- Cells are bounded by the PLASMA MEMBRANE
o Bilayer made of lipids with embedded protein molecules
o Hydrophobic barrier
o Semi permeable…maintains the specialized internal ionic and molecular environments
required for cellular life
- Central region of the cell
o Contains DNA molecules
o Genes: segments of DNA that code for individual proteins
o Contains proteins that help maintain the DNA structure and enzymes that duplicate DNA
and copy its informa on into RNA
- Cytoplasm:
o Contains organelles, cytosol and cytoskeleton
o Cell’s vital ac vi es occur in the cytoplasm
o Organelles: small, organized structures important for cell func on
o Cytosol: aqueous solu on containing ions and various organic molecules
o Cytoskeleton: protein-based framework of filamentous structures that, among other
things, helps maintain proper cell shape and plays key roles in cell division and
chromosome segrega on from cell genera on to cell genera on
- Prokaryo c cells:
o Three common shapes: spherical, rodlike and spiral
o Does not contain a nucleus
o Has a nucleoid: DNA-containing central region of the cell that has no boundary
membrane separa ng it from the cytoplasm
o Individual genes in the DNA molecule encode the info required to make proteins.
▪ This info is copied into mRNA (messenger RNA)
▪ Ribosomes: use the info in the mRNA to assemble amino acids into proteins
o Contains a cell wall-provides rigidity and protects cell
▪ Cell wall is coated with an external layer of polysaccharides called GLYCOCALYX
● When its diffused and loose=slime layer
● When its gela nous and firm=capsule
● Helps protect cells from physical damage and desicca on and may
enable a cell to a ach to a surface
o Plasma membrane: contains most of the molecular systems that metabolize food
molecules into the chemical energy of ATP
o Most cellular func ons occur either on the plasma membrane or in the cytoplasm
o Flagella: long, threadlike protein fibres that rotate in a socket in the plasma membrane
and cell wall to push the cell through a liquid medium
o Pili: hair-like sha of protein extending from cell that helps to a ach the cell to surfaces
- Eukaryo c cells
o Divided into four major groups: pro sts, fungi, animals and plants
o Defined as having cells where DNA is contained within a membrane-bound
compartment called the nucleus
o Cytosol: par cipates in energy metabolism and molecular synthesis and performs
specialized func ons in support and mo lity
o The nucleus is separated from the cytoplasm by the NUCLEAR ENVELOPE, which consists
of 2 membranes, one layered just inside the other and separated by a narrow space
(lamins are found on the inner surface)
o Embedded in the nuclear envelope are many hundreds of nuclear pore complexes
▪ Large, cylindrical structure formed of many types of proteins called the
nucleoporins
▪ Exchanges components between the nucleus and cytoplasm and prevents the
transport of material not meant to cross the nuclear membrane
▪ Nuclear pore: path for the assisted exchange of large molecules such as proteins
and RNA molecules
▪ Some proteins need to be imported into the nucleus
● These are dis nguished by the presence of a special, short amino acid
sequence called a nuclear localiza on signal
▪ Nucleoplasm: liquid or semi-liquid substance within the nucleus
▪ Chroma n: takes up most of the space in the nucleus-combina on of DNA and
proteins
o Each individual DNA molecule with its associated proteins is a EUKARYOTIC
CHROMOSOME
▪ Chroma n: refers to any collec on of eukaryo c DNA molecules with their
associated proteins
▪ Chromosome: refers to a one complete DNA molecule with its associated
proteins
o Nucleoli: mass of small fibres and granules
▪ Froma round the genes coding for the rRNA molecules of ribosomes
o Ribosomes:
▪ Eukaryo c ribosomes are larger than prokaryo c
▪ They use info in mRNA to assemble amino acids into proteins
▪ Many ribosomes are a ached to membranes
● Most are a ached to the ER
o Endomembrane system
▪ Collec on of interrelated membranous sacs that divide the cell into func onal
and structural compartments
▪ Includes nuclear envelope, endoplasmic re culum and golgi complex
▪ Synthesis and modifica on of proteins and their transport into membranes and
organelles, synthesis of lipids, detoxifica on of some toxins
▪ Membranes of the system are connected either directly (physically) or indirectly
(vesicles)
● Vesicles: small membrane-bound compartments that transfer
substances between parts of the system
o Endoplasmic re culum:
▪ Extensive interconnected network of membranous channels and vesicles called
CISTERNAE
▪ Each cisternae is formed by a single membrane that surrounds an enclosed
space called the ER lumen.
▪ 2 ER: rough and smooth
● Rough: many ribosomes that stud its outer surface
o Proteins made on ribosomes a ached to the ER enter the ER
lumen, where they fold into their final form
o Chemical modifica ons of these proteins occur in the lumen
o Proteins are then delivered to other regions of the cell
o For most proteins made on the rough ER, the next des na on is
the Golgi complex, which packages and sorts them to delivery to
their final des na ons.
● Smooth: membranes have no ribosomes a ached to their surfaces
o Has various func ons in the cytoplasm
o Synthesis of lipids and break down of toxins
▪ Rough and smooth ER are o en connected
▪ The rela ve propor ons of rough and smooth ER reflect cellular ac vi es in
protein and lipid synthesis
o Golgi complex
▪ Consists of a stack of fla ened, membranous sacs known as cisternae
▪ Not interconnected
▪ Receives proteins that were in the ER and transported in vesicles. When vesicels
contact the CIS face of the complex (side facing the nucleus), they fuse with the
golgi membrane and release their contents directly into the cisternal.
● Here they are chemically modified
▪ The modified proteins are transported within the Golgi to the TRANS face of the
complex (faces the plasma membrane), where they are sorted into vesicles that
bud off the margins of the Golgi
▪ Membrane of a vesicle that fuses with the plasma membrane becomes part of
the membrane….used to expand the surface of the cell during cell growth.
● Used in exocytosis
o Lysosomes
▪ Small, membrane-bound vesicles that contain more than 30 hydroly c enzymes
for the diges on of many complex molecules, including proteins, lipids, nucleic
acids and polysaccharides
▪ Found in animals but not plants
▪ Central vacuole is the equivalent in plants
▪ Assume variety of sizes and shapes
▪ Are formed from the Golgi complex
▪ Very acidic compared to pH of cytosol….this difference reduces the risk to the
viability of the cell should the enzymes be released from the vesicle
▪ Can digest several types of materials
▪ Autophagy: digest organelles that are not func oning correctly
▪ Phagocytosis: process in which some types of cells engulf bacteria or other
cellular debris to break them down
● Phagocytes use this (white blood cells)
▪ Lysosomal storage disease: hydroly c enzymes normally found in lysosome is
absent
● Result: substrate of that enzyme accumulates in the lysosomes and
eventually interferes with normal cellular ac vi es
o Mitochondria
▪ Membrane-bound organelles in which cellular respira on occurs
▪ Generate most of the ATP in the cell
▪ Requires oxygen
▪ Outer mitochondrial membrane: smooth and covers outside of the organelle
▪ Inner mitochondrial membrane: surface are is expanded by folds called cristae
▪ Mitochondrial matrix: innermost compartment
▪ Contains DNA and ribosomes that resemble the equivalent structures in bacteria
● This suggests that mitochondria originated from ancient bacteria that
became permanent residents of the cytoplasm during the evolu on of
eukaryo c cells
o Cytoskeleton
▪ Interconnected system of protein fibres and tubes that extends throughout the
cytoplasm
▪ 3 major types: microtubules, intermediate filaments and microfilaments
▪ Microtubules:
● Smallest
● Dimers are organized head-to-tail in each filament, giving the
microtubule a polarity
o Contains a 1 (plus) end and 2 (minus) end
● Dynamic-changing lengths as required by their func on
● Change length by addi on or removal of tubulin dimers
o Adding or detaching occurs more rapidly at the 1 (plus) end
● Many of the cytoskeleton microtubules in animal cells are formed and
radiate outward from a site called the CELL CENTRE or CENTROSOME
● At its midpoint=centrioles
● Microtubules that radiate from the centrosome anchor the ER, Golgi
complex, lysosomes, secretory vesicles and mitochondria in posi on
o Also provides tracks along which vesicles move from the cell
interior to the plasma membrane
● Animal cell movements are generated by “motor” proteins that push or
pull against microtubules
o One end is firmly fixed
o Other end has reac ve groups that “walk” along another
microtubule by making an a achment, forcefully swivelling a
short distance, and then releasing
o Motor proteins that walk along microfilaments are called
MYOSINS and the ones that walk on microtubules are called
DYNEINS and KINESINS
● Intermediate filaments
o Only found in mul cellular organisms
o Tissue specific in their protein composi on
o Providing structural support in man cells and ssues
● Microfilaments
o Largest
o Consists of 2 polymers of ac n subunits wound around each
other in a long helical spiral
o Asymmetrical in shape
o Have polarity
o Have 1(plus) end and 2 (minus) end
o Best known as one of the 2 components of the contrac le
elements in muscle fibres of vertebrates
o Involved in the ac vely flowing mo on of cytoplasm called
cytoplasmic streaming
▪ When animal cells divide, microfilaments are
responsible for dividing the cytoplasm
o Flagella: propel a cell through a watery medium
o Cilia: move fluids over the cell surface
- Specialized structures of plant cells
o Chloroplasts:
▪ Sites of photosynthesis
▪ Members of a family of plant organelles called PLASTIDS
● Amyoplasts: colour-less plas ds that store starch, a product of
photosynthesis
● Chromoplasts: contain red and yellow pigments and are responsible for
the colours of ripening fruits or autumn leaves
● All plas ds contain DNA genomes and molecular machinery for gene
expression and the synthesis of proteins on ribosomes
▪ Contain outer and inner boundary membrane
● These two boundary membranes completely enclose an inner
compartment called the STROMA
● Within the stroma is a third membrane system that consists of fla ened
sacs called THYLAKOIDS.
o In higher plants, the thylakoids are stacked one on top of the
other forming GRANA
o Thylakoid membranes contain molecules that absorb light
energy and convert it to chemical energy is photosynthesis
▪ Primary molecule absorbing light is chlorophyll-green
pigment present in chloroplast
o Central vacuole
▪ Large vesicles
▪ Membrane that surrounds the central vacuole called the TONOPLAST, contains
transport proteins that move substances into and out of the central vacuole
▪ As plant cells mature, they grow primarily by increases in the pressure and
volume of the central vacuole
o Cell wall
▪ Extracellular structure because it is located outside the plasma membrane
▪ Provide support to individual cells, contain the pressure produced in the central
vacuole and protect cells against invading bacteria and fungi
- Specialized cells in animals
o Cell adhesion molecules: bind cells together
o Cell junc ons: seal the spaces between cells and provide direct communica on between
cells
o Extracellular matrix (ECM): supports and protects cells and provides mechanical linkages
o Cell adhesion:
▪ Glycoproteins embedded in the plasma membrane
▪ Bind to specific molecules on other cells
▪ As an embryo develops into an adult, the connec ons made by cell adhesion
become permanent and reinforced by cell junc ons
o Cell junc ons:
▪ Anchoring junc on: adjoin cells adhere at a mass of proteins anchored beneath
their plasma membrane by many intermediate filaments
▪ Tight junc on: form between adjacent cells by fusion of plasma membrane
proteins on their outer surfaces
● Seal ght enough to prevent leaks and of ions or molecules between
cells
▪ Gap junc on: cylindrical arrays of proteins form direct channels that allow small
molecules and ions to flow between the cytoplasm of adjacent cells
o ECM
▪ Primary func on is protec on and support
▪ Glycoproteins are the main component
▪ Collagen: forms fibres with great tensile strength and elas city
2)Change in entropy
b. Reac ons tend to be spontaneous when the products are less ordered than
the reactants.
i. Generally, changes from solid to liquid etc increase entropy. Changes
from liquid to solid etc decrease entropy
ii. Eg. Glass of ice: mel ng ice at 25C is endothermic but spontaneous
because of increase in entropy.
- Free energy : por on of a system’s energy that is available to do work (G)
o In living organisms, free energy accomplishes the chemical and physical work involved in
ac vi es such as the synthesis of molecules, movement, and reproduc on.
o G=Gfinal state-Gini al state
o G=H-TS
▪ H=change in enthalpy
▪ S=change in entropy
▪ T in absolute temperatue=+273.16
▪ Free energy change as a system goes from the ini al to the final state is the sum
of the changes in energy content and entropy
o For a reac on to spontaneous, G has to be nega ve (free energy of products must be
less than that of reactants=exergonic (catabolic).
o Systems that have high free energy are less stable than systems that have less free
energy.
- Chemical equilibrium: the point at which there is no longer any overall change in the
concentra on of products and reactants
o The point of equilibrium is related to the G for the reac on. Eg some reac ons have G
close to 0 and are thus readily reversible.
o Free energy of the system are lower when the products are “contaminated” or diluted by
some molecules of reactant than when the system is made up of pure produce because
the mixture has higher entropy.
- Metabolism: defined as the sum of all of the chemical reac ons that take place within an
organism. Ending of one reac on is the beginning of another.
o Exergonic reac on: releases free energy…G is nega ve
o Endergonic reac on: consumes free energy…G is posi ve
o Catabolic pathway: energy is released by the breakdown of complex molecules to
simpler compounds. Eg cellular respira on
o Anabolic pathway: consume energy to build complicated molecules from simpler ones;
o en called biosynthe c pathways. Eg photosynthesis or synthesis of macromolecules.
o Both catabolic and anabolic can be made up of both exergonic and endothermic
reac ons.
o Living organisms are defined as having a –G and reach equilibrium when they die.
ATP
- ATP consists of a five-carbon sugar (ribose), linked to the nitrogenous base adenine and a chain
of 3 phosphate groups
- Breakdown of ATP in an aqueous solu on is a HYDROLYSIS reac on that liberates free energy and
results in forma on of ADP and inorganic phosphate.
- High free energy of hydrolysis of ATP is due to 3 factors:
1) Both products of hydrolysis reac on carry a nega ve charge, and the repulsion between
these ionic products favours hydrolysis.
2) Release of terminal phosphate allows greater opportunity for hydra on and thi is an
energe cally favoured state.
3) Inorganic phosphate group can exist in a wide variety or resonance forms, not all of which
are available when it is bonded.
*The high free energy of hydrolysis is simply due to the large difference in the usable
energy content of the reactants (high) as compared to the products (low).
- How do cells harness the high free energy available in ATP to do cellular work?
- energy coupling: the exergonic release of energy when ATP is converted to ADP and Pi is used to
drive an endergonic reac on.
- The reason that energy is not simply lost as heat when ATP is broken down is that ATP is not
actually hydrolyzed during energy-coupling reac ons.
- ATP is a renewable resource that is made by recombining ADP and Pi.
- ATP cycle: con nued breakdown and resynthesis of ATP.
- A reac on is “thermodynamically unstable” if the free energy change of the reac on is nega ve.
- In a “kine cally unstable” reac on, the reactants will rapidly be converted into products.
Ac va on energy: ini al energy investment required to start a reac on
Transi on state: molecules that gain the necessary ac va on energy, where bonds are unstable
and are ready to be broken.
Catalyst: chemical agent that speeds up rate of reac on without taking part in reac on
Ac va on energy represents a real KINETIC barrier that prevents spontaneous reac ons from proceeding
quickly.
Enzymes increase the rate of reac on by increasing the number of substrate molecules that a ain the
transi on state conforma on.
Rate of catalysis is propor onal to the amount of enzyme: As enzyme concentra on increases, the rate
of product forma on increases. In this system, what is limi ng the rate of reac on is the amount of
enzyme in the reac on mixture.
- At very low concentra ons, substrate molecules collide so infrequently with enzyme molecules
that the reac on proceeds slowly.
- As enzyme molecules approach max rate, increasing substrate concentra on has smaller and
smaller effect and rate of reac on levels off=at this point the enzyme is said to be saturated with
substrate.
The rate at which an enzyme can catalyze a reac on can be lowered by enzyme inhibitors, which are
non-substrate molecules that bind to an enzyme and decrease its ac vity. Some inhibitors work by
binding to the ac ve site of an enzyme, whereas other inhibitors bind to cri cal sites located elsewhere
in the structure of the enzyme.
- Compe ve inhibitor: competes with normal substrate for access to the ac ve site
o If concentra on of inhibitor is high enough, reac on may stop completely.
- Noncompe ve inhibitor: specific molecules inhibit enzyme ac vity that bind somewhere else
on enzyme.
o Decreases enzyme ac vity because upon binding it changes the conforma on of
enzyme, reducing ability to bind to substrate.
- Reversible inhibitors: binding of inhibitors to enzyme is weak and readily reversible, with enzyme
ac vity returning to normal following inhibitor release.
- Irreversible inhibitors: strong bind to enzyme through covalent bonds that enzyme is completely
disabled.
o Can only be overcome by cell synthesizing more of par cular enzyme.
o E.g an bio cs
- A typical cell contains thousands of enzymes, for each enzyme that synthesizes a specific
molecule there is usually another enzyme that catalyzes the reverse reac on.
o If both enzymes are ac ve in same cell compartment at same me, 2 processes would
run simultaneously in opposite direc ons and have no overall effect other than was ng
energy.
To limit (the above) from happening there are two major mechanisms that directly regulate enzyme
ac vity:
1) Allosteric regula on: enzyme ac vity is controlled by the reversible binding of a regulatory
molecule to the allosteric site, a loca on on the enzyme outside the ac ve site.
i. Because these molecules alter enzyme ac vity by binding at sites separate from
the ac ve site, their ac ons are non compe ve. See page 87.
ii. High affinity state (ac ve form): enzyme binds strongly to its substrate
iii. Low affinity state (inac ve form): enzyme binds weakly to its substrate.
iv. Allosteric inhibitor: converts an allosteric enzyme from high to low affinity state
v. Allosteric ac vator: converts it from low to high affinity state.
- Allosteric inhibitors are a product of the metabolic pathway they regulate
o If product is in excess…effect of inhibitor slows or stops enzyma c ac vity
o If product is scars…effect of inhibitor slows to allow product to accumulate.
o This (above0 is called FEEDBACK INHIBITION
2) Covalent modifica on: some enzymes are o en completely inac ve and are ac vated only when
their structure changes by covalent modifica on. OR some enzymes are always ac ve and are
made inac ve by covalent modifica on.
i. Phosphoryla on vs dephosphoryla on
ii. Proteoly c cleavage: some enzymes are synthesized in cataly cally inac ve
forms that are ac vated a er the protein is shortened slightly by an enzyme
called PROTEASE.
The ac vity of most enzymes is strongly altered by changes in pH and temperature. Characteris cally,
enzymes reach maximal ac vity within a narrow range of temperature or pH; at levels outside this range,
enzyme ac vity drops off.
- Most enzymes have a pH op mum near the pH of the cellular contents, about pH 7.
- Effects of temperature:
o Temperature has a general effect on chemical reac ons of all kinds. As temp increases,
rate of chemical reac ons increases.
o Temp has a more specific effect on all proteins. As temp rises, kine c mo ons of amino
acid chains of an enzyme increase, along with strength and frequency of collisions. At
some point, these disturbances become strong enough to denature the enzyme.
o In range 0C to 40C, reac on rate doubles for every 10C increase in temp.
o Above 40C, enzyme starts to denature, falls to zero at 60C.
o Peak enzyme ac vity: 40C-50C
Chapter 5 (5.2-5.7)
- Fluid mosaic model: model proposes that membranes are not rigid with molecules locked into
place but rather consist of proteins within a mixture of lipid molecules the consistency of olive
oil.
o The mosaic aspect of the fluid mosaic model refers to the fact that most membranes
contain an assortment of different types of proteins.
▪ Because they are larger than lipid molecules, proteins move more slowly in the
fluid environment of the membrane.
- Phospolipids: forms lipid bilayer
o Consists of a head group a ached to two long chains of carbon and hydrogen called a
FATTY ACID.
o They are amphipathic: fa y acid part is hydrophobic (water fearing…nonpolar) and
phosphate-containing head is hydrophilic (water loving…polar).
- Fluidity of lipid bilayer is influenced by 2 factors:
o 1) the type of fa y acids that make up the lipid molecules
▪ Saturated: linear, pack ghtly together, rigid
▪ Unsaturated: double bonds (can’t pack ghtly together), FLUID
o 2) temperature
▪ The more unsaturated a group of lipid molecules, the lower the temperature has
to be for gelling to occur (forming semisolid…liquid to solid).
o For most membrane systems, the normal fluid state is achieved by a mixed popula on of
saturated and unsaturated fa y acids.
- Keeping membranes in a fluid state is absolutely essen al to cell func on.
o Temp too low: can inhibit func ons
o Temp too high: membrane leakage.
- Most organisms can ac vely adjust the fa y acid composi on of their membranes so that proper
fluidity is maintained over a broad temperature range.
o Unsaturated fa y acids are produced during fa y acid biosynthesis through the ac on of
a group of enzymes called DESATURASES.
▪ Desaturases act on saturated fa y acids by catalyzing a reac on that removes
two hydrogen atoms from neighbouring carbon atoms and introducing a double
bond.
▪ The more desaturases, the more fluid the membrane…used when temperature
drops.
▪ Like many proteins, desaturase abundance is regulated at the level of gene
transcrip on, which results in changes to desaturase transcript (MRNA)
abundance.
o Sterols also influence membrane fluidity
▪ Found in animal cells but not in plants
▪ Act as buffers
▪ At high temps: they help restrain the movement of lipid molecules
▪ At low temps: they disrupt fa y acids from associa ng by occupying space
between lipid molecules thus slowing the transi on to the nonfluid gel state.
- Two major types of proteins are associated with membranes: integral and peripheral membrane
proteins.
- Membrane proteins can be separated into 4 major func onal categories:
o Transport: a protein may provide a hydrophilic channel that allows movement of a
specific compound.
o Enzyma c ac vity: a number of enzymes are membrane proteins.
o Signal transduc on: Membranes o en contain receptor proteins on their outer surface
that bind to specific chemicals such as hormones. On binding, these receptors trigger
changes on the inside surface of the membrane that lead to transduc on of the signal
through the cell.
o A achment/recogni on: on inside + outside surface of membrane…act as a achment
points for a range of cytoskeleton elements, as well as components involved in cell to
cell recogni on.
- Proteins that are embedded in the phospholipid bilayer are called Integral Membrane Proteins
o A subset of integral membrane proteins that traverse the en re lipid bilayer are referred
to as “transmembrane proteins”.
▪ Because the transmembrane proteins interact with both the aqueous sides of
the membrane and the hydrophobic core, it has domains with different polarity.
● Domain that interacts with lipid bilayer (hydrophobic core) is mostly non
polar…this forms a secondary structure called an “alpha helix”
● Domain that interacts with aqueous sides on either side of membrane is
mostly polar.
o Primary structure: amino acid sequence of a protein
o Ter ary structure: folding due to R group interac ons
o Fourth structure: more than one polypep de.
o How to tell if it is a transmembrane protein: stretches of non polar amino acids.
▪ Most transmembrane proteins span the membrane more than once.
- Peripheral membrane proteins: are posi oned on the surface of a membrane and do not interact
with the hydrophobic core of the membrane
o Are held to membrane by noncovalent bonds
o Are found on cytoplasmic side of the plasma membrane and form part of the
cytoskeleton
o They are made up of polar and non polar amino acids.
- The hydrophobic nature of membranes severely restricts the free movement of many molecules
into and out of cells and from one compartment to another.
- Passive transport: movement of a substance across a membrane without the need to expend
chemical energy such as ATP
o Diffusion drives passive transport
o Above absolute zero (-273C) molecules are in constant mo on
o Driving force behind diffusion is an increase in entropy
▪ When in ini al state (one region with more molecules than other) molecules are
more ordered and in a state of lower entropy. As diffusion occurs, when
molecules are disturbed, entropy increases.
▪ As it reaches maximum disorder, molecules release free energy, which can
accomplish work
o Rate of diffusion depends on the concentra on difference (concentra on gradient).
▪ The larger the gradient, the faster the rate of diffusion.
- Simple diffusion (passive): movement of molecules directly across a membrane without the
involvement of a transporter.
o Depends on : molecular size and lipid solubility
o Molecules that use this are : O2, CO2, steroid hormones, water or glycerol.
▪ Membrane is prac cally impermeable to charged molecules.
o Slow but never plateaus
- Facilitated diffusion (passive): diffusion of molecules across a membrane through the aid of a
transporter.
o Carried out by two transport proteins: channel and carrier
o Channel proteins: form hydrophilic pathways in the membrane through which molecules
can pass.
▪ Diffusion of water is facilitated by water-specific transport proteins called
AQUAPORINS.
● Very narrow
● Specific for water
● Show presence of posi ve charges in centre of channel that are thought
to repel the transport of protons.
▪ Gated channel: these transporters can switch between open, closed and
intermediate states and are cri cal to the movement of most ions.
● Gates are open or closed by changes in voltage across membrane.
o Carrier proteins: each carrier protein binds a single specific solute and transports it
across the lipid bilayer….UNIPORT.
▪ Carrier protein undergoes conforma onal changes that progressively move the
solute binding site from one side of the membrane to the other, thereby
transpor ng the solute.
o Is quick and can plateau.
- Osmosis: diffusion of water molecules across a selec vely permeable membrane.
o Hypotonic: more concentra on in cell than out…water comes in…cell swells
o Hypertonic: more concentra on out of cell…water comes out…cell shrinks
Ac ve Membrane Transport
- Eukaryo c cells import and export larger molecules by endocytosis and exocytosis.
o Both require energy
- Exotysosis: secretory vesicles move through the cytoplasm and contact the plasma membrane.
o Vesicle fuses with plasma membrane, releasing the vesicle’s contents to the cell exterior.
- Endocytosis: trap in depressions that bulge inward from the plasma membrane.
o Depression then pinches off as an endocy c vesicle
o Bulk phase endocytosis: extracellular water is taken in along with any molecules that
happen to be in solu on in the water
▪ No binding by surface receptors takes place
o Receptor mediated endocytosis: molecules to be taken in are bound to the outer cell
surface by receptor proteins. Receptors recognize and bind only certain molecules from
the solu on surrounding the cell. A er binding, receptors collect into depression in
plasma membrane called COATED PIT because of network of proteins that coat and
reinforce the cytoplasmic side.
o Phagocytosis is eg
Signal Transduc on
1) Recep on: binding of a signal molecule with a specific receptor of target cells is termed
recep on. Target cells have receptors that are specific for the signal molecules.
a. Found on plasma membrane
2) Transduc on: process whereby the signal recep on triggers other changes within the cell
necessary to cause the cellular response in transduc on.
a. Signalling cascade
3) Response: transduced signal causes a specific cellular response.
- Membrane receptors recognize and bind signal molecules are integral membrane proteins that
extend through the en re membrane.
o Specifc
o Molecular structure of that receptor changes so that it transmits the signal through the
plasma membrane, ac va ng the cytoplasmic end of the receptor protein.
- A common characteris c of signalling mechanisms is that the signal is relayed inside the cell by
PROTEIN KINASES, enzymes that transfer a phosphate group from ATP to one or more sites on
par cular proteins.
o Ac ve only when called upon
o Act in a chain, catalyzing a series of phosphoryla on reac ons called a
PHOSPHORYLATION CASCADE, to pass along a signal.
o Last protein in cascade is Target Protein.
- Effects of protein kinases in the signal transduc on pathways are balanced and reversed by
another group of enzymes called PROTEIN PHOSPHATASES, which remove phosphate groups
from target proteins.
o Most of the protein phosphatases are con nuously ac ve in cell
Why not have receptor ac va on lead directly to response?
Cellular Respira on: collec on of metabolic reac ons within cells that breaks down food molecules to
produce ATP.
o Transform the poten al energy found in food molecules into a form that can be used for
metabolic processes.
- Life and its systems are driven by a cycle of electron flow that is powered by light in
photosynthesis and oxida on in cellular respira on
- An electron that is farther away from the nucleus contains more energy than an electron that is
more closely held by the nucleus
o Electrons that from the covalent C-H bond are equidistant from both atomic nuclei-not
being strongly held by either.
▪ Can be easily removed
▪ Fat is almost en rely C-H bonds, while proteins and carbohydrates contain
varying amounts of other atoms including oxygen
- The more electronega ve an atom, the greater the force that holds the electrons to the atom,
and, therefore, the greater the energy required to remove the electrons.
- Oxidized: when molecules lose electrons
- Reduced: when molecules gain electrons
- Concept of redox reac ons:
1) Although many oxida on reac ons involve oxygen, others, including a number involved in
cellular respira on, do not.
2) The gain or loss of an electron in a redox reac on is not always complete
- Cellular respira on is controlled combus on
o Combus on of glucose releases energy as electrons are transferred to oxygen, reducing
it to water, and the carbon in glucose is converted to carbon dioxide.
o Energy of C-H bonds is not liberated suddenly, producing heat, but is slowly released in a
stepwise fashion, with the energy being transferred to other molecules.
o Dehydrogenases: group of enzymes that facilitate the transfer of electrons from food to
a molecule that acts as an energy carrier or shu le
▪ Most common energy carrier: NAD+
1) Glycolysis: Enzymes break down a molecule of glucose into 2 molecules of pyruvate. Some ATP
and NADH is synthesized.
2) Pyruvate oxida on and the citric acid cycle: Acetyl Co-A which is formed from the oxida on of
pyruvate, enters a metabolic cycle, where it si completely oxidized to carbon dioxide. Some ATP
and NADH synthesized. Complete oxida on of glucose.
3) Oxida ve phosphoryla on: the NADH synthesized by both glycolysis and the citric acid cycle is
oxidized, with the liberated electrons being passed along an electron transport chain un l they
are transferred to oxygen, producing water. The free energy released during electron transport is
used to generate a proton gradient across a membrane, which, in turn, is used to synthesize ATP.
Bulk genera on of ATP
Mitochondrion
Glycolysis
- Breakdown
- Consists of 10 sequen al enzyme-catalyzed reac ons
- 6 carbon sugar glucose
- Produces 2 molecules of the 3 carbon compound pyruvate
- Glycolysis is the most fundamental and ancient of all metabolic pathways:
1) Glycolysis is universal, found in all 3 domains of life
2) Glycolysis does not depend upon the presence of O2
3) Glycolysis occurs in the cytosol of all cells
- 3 major concepts to follow in glycolysis
1) Energy investment followed by payoff
a. Ini al 5 step energy investment followed by 5 step energy payoff
2) No carbon is lost
a. Since glucose has been oxidized, poten al energy in 2 molecules of pyruvate is less
than that of one molecule of glucose
3) ATP is generated by substrate-level phosphoryla on
a. Involves transfer of phosphate group from a high-energy substrate molecule to ADP,
producing ATP.
Pyruvate oxida on and the citric acid cycle
- The pyruvate synthesized during glycolysis must pass through both the outer and inner
mitochondrial membranes.
- Pyruvate is converted to acetyl Co-A
- Citric acid cycle: consists of 8 enzyme catalyzed reac ons: seven are soluble enzymes in
mitochondrial matrix and 1 is bound to matrix side of inner mitochondrial membrane
o Oxida on of ATP, NADH and FAD
- The citric acid cycle is the stage of respira on where the remaining carbon atoms that were
originally in glucose at the start of glycolysis are converted into carbon dioxide.
Oxyda ve phosphoryla on
Efficiency
- 1 NADH=3 ATP
- 1 FADH2=2 ATP
- 2 ATP from glycolysis
- 2 ATP from citric acid cycle
- 34 from oxida ve phosphoryla on
- Theore cal max is 36
o Energy costs of transpor ng NADH generated by glycolysis into
mitochondrion….consumes 1 ATP
o Inner mitochondrial membrane is somewhat leaky to protons
- 38% of energy in glucose is converted to ATP
- Phosphofructokinase: key enzyme in glycolysis
o Allosteric
Oxygen
***as long as there is sufficient NAD+, glycolysis will con nue to operate and generate ATP.
Phosphofructokinase:
Oxygen=bad
- Par ally reduced O2 are formed when O2 accepts fewer electrons, producing what are called
REACTIVE OXYGEN SPECIES.
o Powerful oxidizing molecules that readily remove electrons from proteins, lipids and
DNA, resul ng in damage.
o Aerobes: an oxidant defence system=includes enzymes and nonenzymes that have the
role of intercep ng and inac va ng reac ve oxygen molecules as they are produced
within cells
▪ Catalse, superioxide dismutase
o
Chapter 7-Photosynthesis
Photosynthesis: conversion of carbon dioxide into organic molecules using light energy
- Photosynthe c organisms are autotrophs because they make all of their required organic
molecules from carbon dioxide.
o Some are photoautotrophs…use light energy to synthesize organic molecules
▪ Known as primary products because they represent the source of organic
molecules for CONSUMERS
▪ Not present in Archea
o Phototrophy: includes any process that converts light energy into chemical energy
- The conversion of carbon dioxide into carbohydrates requires integra on of 2 processes:
1) Light reac ons: involves capture of light energy by pigment molecules and the u liza on of
that energy to synthesize both NADPH and ATP
2) Calvin cycle: electrons and protons carried by NADPH and the energy of ATP are used to
convert CO2 into an organic form
- Carbohydrate units : (CH2O)n…n indica ng the different carbohydrates are formed from different
mul ples of the carbohydrate unit.
- Oxygenic photosynthesis: O2 is produced as a by-product by the light-dependent spli ng of
water.
- 3 carbon sugars are major direct product of the calvin cycle
- In photosynthe c eukaryotes, both the light reac ons and the Calvin cycle take place within the
chloroplast.
o Outer membrane: covers en re surface of organelle
o Inner membrane: lies just inside the outer membrane
o Intermembrane compartment: between outer and inner
o Stroma: aqueous environment within inner membrane
▪ Enzymes that catalyze the reac ons of Calvin cycle
o Thylakoid membranes: third membrane system….form fla ened sacs
▪ Components that carry out the light reac ons of photosynthesis
o Thylakoid lumen: space enclosed by a thylakoid
*Cells lacking chloroplasts may s ll be photosynthe c
- Photosynthesis is ini ated by light absorp on by pigment molecules that are bound precisely to
specific proteins
- Photosystem: pigment-protein complexes
- To be used as a source of energy, photons of light must be absorbed by a molecule
o A major class of molecules that are very efficient at absorbing visible light are pigments
because their structure results in a number of excitable electrons
- 2 important concepts about light absorp on:
1) A single photon of light excites only a single electron within a pigment molecule, raising it
from the ground state to an excited state.
2) A photon of light can only excite an electron when the energy of the photon matches the
amount of energy required to raise the electron from the ground state to an excited state
- A er a pigment molecule absorbs a photon of light, 3 things can happen
1) Fluorescence …releases energy and goes back to original state…REFLECTION
2) Transferred
3) Absorbed
- Light is absorbed by molecules of green pigments called chlorophylls and yellow-orange
pigments called cartoenoids.
- Chlorophyll: green
o Does not have an excited state
o Always reflected or transmi ed
o Chlorophyll a and b
- Absorp on spectrum: plot of the absorop on of light as a func on of wavelength
o Chlorophyll a strongly absorbs blue and red light
- Ac on spectrum: plot of effec veness of light of par cular wavelengths in driving a process
- Photosynthesis pigments are required not only to absorb photons of light but also to transfer the
energy to neighbouring molecules.
o Bound very precisely to specific proteins
o Organized within the thylakoid membrane into complexes called
PHOTOSYSTEMS-composed of antenna complex
▪ Trap photons of light and use the energy to oxidize a reac on centre chlorophyll,
with the electron being transferred to the primary electron acceptor.
- Antenna complex: pigment-protein that surrounds a central reac on center. ***check out
diagrams**
- Photosystem 1: chlorophyll a is P700
- Photosystem 2: chlorophyll is P680.
- Key events in photosystem 2:
1) The absorp on of photons by the antenna complex and funnelling of energy to the reac on
centre result in an electron within P680 being excited.
2) Once in the excited state, P680* can be easily oxidized to P680+ by the primary electron
acceptor. This oxida on-reduc on reac on ini ates electron transport.
3) P680+ is reduced back to P680 by dona on of an electron from water. This is facilitated by
the oxygen-evolving complex.
- P1 and P2 are light-trapping components
- As in all electron transport systems, the electron carriers of the photo-synthe c system consist of
nonprotein cofactors that alternate between being oxidized and reduced as electrons move
through the system.
- 3 major protein complexes of electron transport chain:
1) Photosystem 2
2) Cytochrome complex
3) Photosystem 1
- Plas quinone: electron flow between photosystem 2 and cytochrome complex
- Plastocyanin: electron flow from cytochrome complex to photosystem 1
- Linear electron transport: pathway of electron flow from photosystem 2 through photosystem 1
to synthesize NADPH
- All electron transport chains operate with electrons flowing spontaneously from molecules that
are easily oxidized to molecules that are progressively more easily reduced.
o By conver ng P680 into P680*, the absorp on of light energy produces a molecule that
is easily oxidized by the electron transport chain, and electron flow is a spontaneous
process from P680* to photosystem 1. A second photon of light absorbed by
photosystem 1 results in the forma on of P700*, which is easily oxidized by the primary
electron acceptor of photosystem 1, and in turn ferredoxin, before finally the electron is
donated to NADP+
- In photosynthe c electron transport, the proton gradient across the thylakoid membrane is
derived from 3 processes:
1) Protons are translocated into lumen by cyclic reduc on and oxida on of plastoquinone as it
migrates from photosystem 2 to tcytochrom complex and back again
2) Gradient is enhanced by addi on of 2 protons to the lumen from the oxida on of water
3) Removal of one proton from stroma for each NADPH molecule synthesized further decreases
the H+ concentra on in the stroma, thereby enhancing the gradient
- Photophosphoryla on: process of using light to generate ATP
- You need a total of 8 photos of light, 4 for each photosystem, to make a single molecule of O2.
- Cyclic electron transport: photosystem 1 can func on independently of photosystem 2
o Reduced ferredoxin donates electrons back to the plastoquinone pool…..get con nually
reduced and oxidized and keeps moving protons across membrane without involvement
of electrons coming from photosystem 2.
o NADPH is not formed
o Reduc on of carbon dioxide by calvin cycle requires more ATP than NADPH and the
addi onal ATP molecules are provided by cyclic cycle.
Calvin cycle
- Only a er 3 turns of the calvin cycle that one actually generates a separate molecule
- Calvin cycle can be divided into 3 phases:
1) Fixa on: phase involves the incorpora on of a carbon atom from CO2 into one molecule of
RuBP to produce 2 molecules of 3-phosphoglycerate.
2) Reduc on: each 3-phosph…get an addi onal phosphate added from the breakdown of ATP.
Each of these molecules is subsequently reduced by electrons from NADPH, producing G3P.
3) Regenera on: for each turn of the calvin cycle, 2 molecules of G3P are produced-a total of 6
carbon atoms.
a. 5 of these carbons are rearranged to regenerate the single molecule of RuBp
required for the next round of carbon fixa on.
b. For synthesis of extra G3P, 9 ATP and 6 NADPH are required.
- Sucrose is the main form in which the products of photosynthesis circulate from cell to cell in
plants.
- Rubisco
o Enzyme responsible for catalyza on of CO2
o High abundance of rubisco in photosynthe c cells is explained by the fact that this very
important enzyme is cataly cally very slow.
o Inefficient at fixing carbon dioxide
▪ Ac vity site of rubisco is not specific to CO2, a molecule of O2 can bind to it as
well.
▪ Photorespira on: when O2 reacts with RuBP…very wasteful
- Carbon-concentra ng mechanism: concentra on of CO2 in water is low but within cell its high.
- Leaf:
o Major photosynthe c part of plant
o Cu cle prevents water loss
- C4 plants perform be er when its ho er
o Much higher concentra ons of CO2 at RuBP
- CAM plants: when the can change between C3 and C4 cycles depending on temperature
**cellular respira on can occur in plants.
1) Direct channels
a. Gap junc ons (animals)
b. Plamodesmata (plants)
2) Specific cell contacts
a. Surface molecules binding to other cells/ECM
3) Intercellular chemical messengers
a. Controlling/Signalling cell: makes and secretes signal molecule (ligand).
b. Signalling molecule: Binds to targetcell
c. Target cell: Binds signalling molecules via receptors and responds
d. Forms a Ligand-Receptor complex and triggers a conforma onal change in the receptor
- Signal molecules can act via short distances (neurotransmi ers) or long distances (hormones).
o Eg for short distances: Acetylcholine released from a nerve cell (neuron) binds to
acetycholine rececptor on the cell which leads to muscle contrac on
- Hormone:
o Released into the blood
o Carried throughout the body
o Billions of cells exposed to the hormone
o Ini ates responses in cells with receptor
- Long distance signalling in plants:
o Hormones travel in vessels, through cells, through the air
o Eg. Ethylene ini ates growth and fruit ripening
- Cell communica on and signalling molecule-receptor interac on
o Chemical released by signaling cell= signaling molecule
o Signaling molecule must bind with an associated RECEPTOR in order to ini ate a
response.
o Pg 163 diagram
- Cell communica on signaling and target cells
o Cells can receive chemicals and release chemicals. Therefore a cell can be a signaling cell
and a target cell.
o The terms are used to clarify which cell is releasing a chemical (signaling) and which is
receiving the chemical (target) in a par cular situa on
- Cell surface and intracellular receptors…ge ng the message in …LOOK AT DIAGRAMS
- Receptor within a chell: steroid hormone:
o Small and non-polar, so passively diffuse through membrane
o Bind to receptors in cytoplasm/nucleus
o Complex moves to nucleus and regulates transcrip on (response)
BOOK
- New progeny cells are needed for expanding popula on size (single-celled organisms),
mul cellular ssue growth (new leaves), asexual reproduc on, and replacement of coordina ng
their growth, DNA replica on, and cell division in the face of a changing environment
Cancer
- Cancer occurs when cells lose the normal controls that determine when and how o en they will
divide
- Cancer cells typically lose their adhesions to other cells and o en become ac vely mobile
o Metastasis: tend to break loose from an original tumour, spread throughout the body
and grow into new tumours in other body regions.
▪ Promoted by changes that defeat contact inhibi on and alter the cell surface
molecules that link cells together or to the extracellular matrix
- Tumours may also break through barriers
o The breakthroughs cause bleeding, open the body to infec on by microorganisms, and
destroy the separa on of body compartments necessary for normal func on
- When mutated genes, called ONCOGENES, encode altered version of processes.
- Programmed cell death, called APOPTOSIS, is common
o The main execu oner is caspases
o Causes of death are nuclear DNA degrada on and disrupted mitochondrial func on
o Corpses of dead cells are engulfed and eaten by neighbouring cells.
Meosis
- Sexual reproduc on: the produc on of offspring through the union of male and female gametes
o Depends on meosis, a specialized process of cell division that recombines DNA
sequences and produces cells with half the number of chromosomes present in the
soma c cell
- Fer liza on: the nuclei of an egg and a sperm cell fuse, producing a cell called the ZYGOTE, in
which the chromosome number typical of the species is restored
o Without halving of chromosome number by the meito c divisions, fer liza on would
double the number of chromosomes in each subsequent genera on.
o None of the offspring of a ma ng pair are likely to be gene cally iden cal to either their
parents or their siblings
- Essence of meiosis is difference
o 1) halved chromosome number
o 2) recombined chromosomal DNA sequence
- The two representa ves of each chromosome in a diploid cell cons tute a homologous pair-they
have the same genes, arranged in the same order in the DNA of the chromosomes.
o Paternal chromosome: one chromosome of each homologous pair is derived from the
male parent of the organism
o Maternal chromosome: “” derived from the female parent of the organism
o *although two homologous chromosomes carry the same genes arranged in the same
order, different VERSIONS of these genes, ALLELES, may be present on either
chromosome
- Early in meosis 1, homologous chromosomes find their partners and pair lengthwise, gene for
gene, in a process called SYNAPSIS
o Recombina on occurs, and chromosomal segments are exchanged.
o As the first division ends, the members of each homologous pair are moved into one or
the other of the two daughter cells
- During the meosis 2, the sister chroma ds are separated into different cells, further reducing the
amount of DNA in each product of meosis
o Total of 4 cells, each with the haploid number of chromosomes and a novel collec on of
alleles
- Ploidy is determined only by the number of chromosomes, it is not influenced by whether the
chromosomes are replicated or not.
- Phases of meiosis : DIAGRAM ON PAGE 196
- During meosis and fer liza on, gene c variability arises from 4 sources:
o 1) gene c recombina on of homologous chromosomes
▪ Snaptonemal complex: homologous chromosomes pairs that are held together
ghtly by proteins
▪ Recombinants: combina ons of alleles that have recombined
▪ Cross-overs: regions in which non-sister chroma ds cross over each other
▪ Chromosomes actually pair one on top of the other
o 2) the differing combina ons of maternal and paternal chromosomes segregated to the
poles during anaphase 1
o 3) the differing combina ons of recombinant chroma ds segregated to the poles during
anaphase 2
o 4) the par cular sets of male and female gametes that unite in fer liza on
- Blending theory of inheritance: suggested that hereditary traits blend evenly in offspring through
mixing of the parents’ blood
- Characters: heritable characteris cs
- Trait: varia on in a character
- Mendel: established that characters are passed to offspring in the form of discrete hereditary
factors which are now known as genes
- Allele: the different versions of a gene that produce different traits of a character
- Dominance: masking effect
o One allele is dominant over the other, recessive allele
o Dominant alleles do not directly inhibit recessive alleles
- Homozygous: dominant P allele
- Heterozygous: two different alleles of a gene, Pp
- Monohybrid cross: a cross between two individuals that are each heterozygous from the same
pair of alleles, PpXPp
- Genotype: gene c cons tu on of an organism
- Phenotype: outward appearance
- Mendel’s hypotheses:
o 1) the genes that govern gene c characters are present in 2 copies in individuals
o 2) if different alleles are present in an individual’s pair of genes, one allele is dominant
over the other
o 3) the two alleles of a gene segregate and enter gametes singly
- Product rule: when two or more events are independent, the probability that they will both
occur is calculated using this rule
o Their probabili es are mul plied
- Sum rule: apples when several different events all give the same outcome; probability that
EITHER even A or B or C will occur
o Add them up
- Punne square: method for determining the genotypes of offspring and their expected
propor ons
o Write probability that meiosis will produce gametes with each type of allele from one
parent at the top of the diagram and write the chance of obtaining each type of allele
from the other parent on the le side. Fill in the cells by combining the alleles from the
top and from the le and mul plying their individual probabili es
- Testcross: cross between an individual with the dominant phenotype and a homozygous
recessive individual
o Standard test to determine whether an individual with a dominant trait is a
heterozygous or homozygote.
o If offspring of the testcross are of two types, with half displaying the dominant trait and
half the recessive then it is a heterozygote.
o If offspring displays the dominant trait than the individual is homozygote
- Dihybrid: a zygote produced from a cross that involves two characters
- Dihybrid cross: cross between two individuals that are heterozygous for two pairs of alleles
- Principle of Independent assortment (Mendel): two events that are completely independent
o Allele for seed shape that the gamete receives has no influence on which allele for seed
colour it receives
o Genes located on different chromosomes assort independently during meiosis because
the two chromosomes behave independently of one another during as they line up on
the metaphase plate
- Su on:
o Chromosomes occur in pairs in sexually reproducing, diploid organisms, as do the alleles
of each gene
o The chromosomes of each pair are separated and delivered singly to gametes, as are the
alleles of a gene
o The separa on of any pair of chromosomes in meiosis and gamete forma on is
independent of the separa on of other pairs, as in the independent assortment of the
alleles of different genes in Mendel’s dihybrid crosses
o Finally, one member of each chromosome pair is derived in fer liza on from the male
parent, and the other member is derived from the female parent, in an exact parallel
with the two alleles of a gene.
o Chromosome theory of inheritance: Su on concluded that genes and their alleles are
carried on the chromosomes
- Locus: par cular site on a chromosome at which a gene is located
o Par cular DNA sequence that encodes a protein or RNA product responsible for the
phenotype controlled by the gene
- Incomplete dominance: occurs when the effects of recessive alleles can be detected to some
extent in heterozygotes
- Codominance: occurs when alleles have approximately equal effects in individuals, making the 2
alleles equally detectable in heterozygotes
- Mul ple alleles: may be present if all the individuals of a popula on are taken into account
o Each contain nucleo de differences at one or more loca ons in their DNA sequences and
these o en cause detectable altera ons in the structure and func on of gene products
encoded by the alleles
▪ E.g. ABO blood groups
- Epistasis: genes interact, with one or more alleles of a gene at one locus inhibi ng or masking
the effects of one or more alleles of a gene at a different locus.
o Result: some expected phenotypes do not appear among offspring
- Polygenic inheritance: con nuous distribu on in which several to many different genes
contribute to the same character
o Can be defined by classes of varia on
o Plot a graph and if the plot produces a bell curve, it is a good indica on that the trait is
quan ta ve
o Can be influenced by the environment
- Pleiotyropy: genes affec ng more than one character of an organism
- Genes located on the same chromosome may be inherited together in gene c crosses-they do
not assort independently-because the chromosome is inherited as a single physical en ty in
meiosis=LINKED GENES and the phenomenon is called LINKAGE
- Which chromosome, recombinant or not, is carried by a given gamete is most clearly revealed
only in offspring resul ng from fer liza on with a homozygous recessive gamete
- Mutant alleles are named based on the altered phenotype of the organism that expresses them
- The nota on for a wild-type of allele is always made by adding a + sign to the mutant allele
nota on
- Linkage map: map of a chromosome showing the rela ve loca ons of genes
o Shows recombinant offspring frequencies
o Genes farther apart on a chromosome are more likely to have more than one crossover
occur between them
o Single cross-over between two genes gives recombinant chroma ds
o Double cross-over between two genes give the parental arrangement of alleles
o Map unit: unit of a linkage map, is equivalent to a recombinant offspring frequency of
1%...also called cen morgan
▪ Not absolute physical distances, rather they are rela ve, showing the posi ons
of genes with respect to each other
▪ One of the reasons that the units are rela ve and not absolute is that the
frequency of crossing-over giving rise to recombinant offspring varies to some
extent from one posi on to another along chromosomes
- Sex-linked genes: sex chromosomes, inherited differently in males and females
- “linked”: means that the genes are on the same chromosome
- Autosomes: chromosomes other than the sex chromosomes. Genes on these chromosomes
have the same pa erns of inheritance in both sexes
o In humans, chromosomes 1-22 are autosomes
- Y chromosome has a short region of homology with the X chromosome that allows them to pair
during meiosis
- A er 6-8 weeks, the SRY gene becomes ac ve in XY embryos, producing a protein that regulates
the expression of other genes, thereby s mula ng part of these structures to develop as testes
o SRY = sex determining region of the Y
o Only a few genes they carry have any influence on sex determina on or sexual func on
- Sincemale and females have different sets of sex chromosomes, the genes carried on these
chromosomes can be inherited in sex-linkage. Arises from 2 differences between males and
females:
o 1) males have one x chromosome and therefore one allele for each gene on this
chromosome; females have two copies of the x chromosome and therefore two alleles
for all genes on the x chromosome
o 2) males also have one copy of the y chromosome and one allele for each gene on this
chromosome; females have no y chromosome and therefore no y alleles at all
- Pedigree: shows all parents and offspring for as many genera ons as possible, the sex of
individuals in the different genera ons, and the presence of absence of the trait of interest
o Females are designated by a circle, males with a square
o A solid circle or square indicates the presence of the trait
o A carrier is indicated with a central dot
- Sex-linked recessive traits appear more frequently among males than females because males
need to receive only one copy of the allele on the x chromosome inherited from their mothers to
develop the trait
o Females need 2
- Carrier: carrying a mutant allele and could pass it onto offspring, not actually having the
symptoms of a disease
- Females with two x chromosomes inac vate most of the genes on one x chromosome or the
other in most body cells
o Result: The ac vity of most genes carried on the x chromosome is essen ally the same
in the cells of males and females
o Condensa on process that folds and packs the chroma n of one of the two x
chromosomes into a ghtly coiled state similar to the condensed state of chromosomes
during cell division
o Barr body: can be seen within the nucleus in cells of females as a dense mass of
chroma n
o Inac va on occurs during embryonic development
o Once one of the x chromosomes is inac vated in a cell, that same x is inac vated in all
descendants of the cell
- Gene c changes can occur by altera ons in DNA or chromosome number
o 4 major forms:
▪ 1) dele on: occurs if a broken segment is lost from a chromosome
▪ 2) duplica on: occurs if a segment is broken from one chromosome and inserted
into its homologue. In the receiving homologue, the alleles in the inserted
fragment are added to the ones already there
● Almost all duplica ons are likely to be detrimental but some can be
important sources of evolu onary change
● Arises some mes during recombina on in meiosis
▪ 3) transloca on: occurs if a broken segment is a ached to a different,
nonhomologous chromosome
▪ 4) inversion: occurs if a broken segment rea aches to the same chromosome
from which it was lost, but in reversed orienta on, so that the order of genes is
reversed
- Nondisjunc on: failure of homologous pairs to separate during the first meio c division, or
through misdivision, the failure of chroma ds to separate during the second meio c division.
o Result: products of meiosis are produced that lack one or more chromosomes or contain
extra copies of the chromosome
o **failure of homologues to disjoin in meiosis 1 does not affect meiosis 2; chroma ds will
most likely separate normally in meiosis 2
- Aneuploids: individual with extra or missing chromosomes
o In animals, this usually produces debilita ng or lethal development abnormali es
o Eg. Down syndrome
o Nondisjunc on occurs more frequently as women age, increasing the chance that a child
may be born with down syndrome
- Euploids: normal set of chromosomes
- Polyploids: individuals that receive copies of the en re haploid complement
o Triploids: 3 copies of each chromosome instead of 2
o Tetraploids: 4 copies instead of 2
o Originates from failure of the spindle to separate the duplicated chromosomes, which
are therefore incorporated into a single nucleus with twice the usual number of
chromosomes. Meiosis takes place and produces products with two copies of each
chromosome instead of one
o In plants, it makes them more successful
o Usually has lethal effects during embryo c development
- Autosomal recessive inheritance: individuals who are homozygous for the dominant allele are
free of symptoms and are not carriers; heterozygotes are usually symptom free but are carriers;
homozygous for the recessive allele show the trait
o Cys c fibrosis: altered membrane transport protein that results in excess Cl- in the
extracellular fluids, resul ng in thick mucus impairing body func ons
- Autosomal dominant inheritance: allele that causes the trait is dominant, and people who are
either homozygous or heterozygous for the dominant allele are affected; homozygous for the
recessive normal allele are unaffected
- X-linked recessive inheritance: traits due to inheritance of recessive alleles carried on the x
chromosome
o Eg. Duchenne muscular dystrophy
- Gene c counselling: allows prospec ve parents to assess the possibility that they might have an
affected child
o Begins with iden fica on of parental genotypes through family pedigrees or direct
tes ng for an altered protein or DNA sequence
o Parental diagnosis: cells derived from a developing embryo ir its surround ssues or
fluids are tested for the presence of mutant alleles or chromosomal altera ons
▪ Amniocentesis: cells are obtained from the amnio c fluid
▪ Chorionic villus sampling: cells are obtained from por ons of the placenta that
develop from ssues of the embryo
▪ Gene c screening: once a child is born, inherited disorders are iden fied in
which biochemical or molecular tests for disorders are rou nely applied to
children and adults or to newborn infants in hospitals
- Cytoplasmic inheritance: pa ern of inheritance follows that of genes in the cytoplasmic
organelles: mitochondria or chloroplast
o Two major differences between mutant nuclear genes and organelle dna:
▪ 1) ra ons typical of Mendelian segrega on are NOT found because genes are
segrega ng by meiosis
▪ 2) genes usually show uniparental inheritance from genera on to genera on
● Uniparental: all progeny inherit the genotype of only one of the parents
● Maternal inheritance: occurs because the amount of cytoplasm in the
female gamete usually far exceeds that in the male gamete
- Genomic imprin ng: expression of an allele of a par cular nuclear gene is based on whether an
individual organism inherits the allele from the male or female parent
o Imprinted allele: silent allele that is not being expressed
▪ It is silenced by chemical modifica on
▪ Imprinted allele is passed on as the cells grow and divide to produce the soma c
cells of the organism
▪ Loss of imprin ng: result is double dose of the growth factor which disrupts the
cell division cycle, increasing the risk of uncontrolled growth and cancer.
-
DNA
DNA Replica on
- Three cells shapes are common among prokaryotes: spiral, spherical and cylindrical but some
archaea even have square cells
- Internal structures of prokaryo c cells:
o Single, circular DNA molecule
o Many prokaryo c cells also contain small circles of DNA called plasmids, which generally
contain genes for nonessen al but beneficial func on
▪ Plasmids replicate independently of the cell’s chromosome and can be
transferred from one cell to another (HGT)
o Contain ribosomes
o Protein synthesis in archaea is a combina on of bacterial and eukaryo c process, with
some unique archaeal features
o Have a cell wall that lies outside plasma membrane
▪ Primary component of bacterial cell wall is pep doglycan, a polymer of sugars
and amino acids that forms linear chains
▪ Can be divided into 2 groups: Gram posi ve and Gram nega ve
● Gram posi ve: if cell retains the crystal then it will appear purple
o Thin pep doglycan layer
● Gram nega ve: cell does not retain crystal and appears pink
o Has two layers: think pep doglycan layer just outside the
plasma membrane and an outer membrane external to the
pep doglycan layer which lipopolysaccharides
o Less sensi ve to penicillin
▪ Cell wall is surround by a layer of polysaccharides known as a CAPSULE
o Flagella:
▪ Made of rigid helical proteins: prokaryo c
▪ Archaeal flagella carry out the same func on as prokaryotes but contain
different components, develop differently and are coded for different genes
o Pili:
▪ Rigid sha s
▪ Enable them to adhere to or move along a surface
- Chemotrophs: obtain energy by oxidizing inorganic or organic substances, whereas phototrophs
obtain energy from light
- Photoheterotrophs: use light as an energy source and obtain carbon from organic molecules
rather than CO2
- Chemoautotrophs: obtain energy by oxidizing inorganic substances
- Aerobes: use oxygen as final electron acceptor
- Anaerobic: no oxygen needed…they use metals
- Faculta ve anaerobes: use both depending on the condi ons they are in
- Archaea:
o Extremophiles: live in extreme condi ons
o Difference in their plasma membrane: difference in linkage between glycerol and the
hydrophobic tails; tails are also isoprenes rather than fa y acids; some lipids have polar
head groups at both ends
▪ These unique lipids are more resistant to disrup on, making the plasma
membranes be er suited to extreme environments.
o Divided into 3 categories based on differences in rrna
▪ Euryarchaeota: live in various extreme condi ons
● Methanogens: live in low oxygen environments
o Obligate anaerobes
o Generate energy by conver ng various substrates into methane
gas
● Halophiles: salt-loving organisms
o Use light as a secondary energy source
● Extreme thermophiles: live in extremely hot environments
▪ Crenarchaeota: this groups includes most of the extreme thermophiles; have a
higher op mal temperature range
● Pyrobolus: lives in ocean floor
● Psychrophiles: organisms that grow op mally in cold temperatures
o Antarc c and Arc c oceans
▪ Korarchaeota: no info on them, no members of this group have been isolated
and cul vated in the lab.