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Bio Summary 1-10
Bio Summary 1-10
SUMMARY
ALL
CHAPTERS
1-10
Marvel Orahin
A visually reorganized summary with no
watermarks
BIOLOGY
Grade 12 2021-2022
Table of contents
Chapter 1………………………………………2
Chapter 2………………………………………14
Chapter 3………………………………………27
Chapter 4………………………………………39
Chapter 5………………………………………53
Chapter 6………………………………………63
Chapter 7………………………………………75
Chapter 8………………………………………83
Chapter 9………………………………………95
Chapter 10………………………………………108
1
Section 1.1: The Human Body Plan
Levels of organization:
2
Organs and integration
What is an organ?
Consists of various tissues that work together to carry out a specific function .
Stomach
Has all four types of tissues
Part of the digestive system
Works with the small intestine, liver, pancreas
Organs work together and are all integrated on some level with
boundaries that are not well-defined.
Pancreas
Main function is digestion (secretion of digestive juices)
Also secretes endocrine hormones (insulin & glucagon)
The cardiovascular systems transports the nutrients and oxygen generated by the
digestive and respiratory systems respectively.
Body cavities
There are certain compartments in the human body that house and protect
organs.
3
Section 1.2: The Skeletal System
The Skeleton
Appendicular
o The bones of the skull, ribs,
spine, and sternum
Axial
o The bones of the arms and
legs, along with the scapula,
clavicle, and pelvis
4
Long Bone Structure
Periosteum
• A tough membrane that covers the bone surface,
supplying nutrients & nerves that signal pain
Compact bone
• A hard material, composed of mineral crystals &
protein fiber cylinders (lamellae), that allows
bone to endure large amounts of stress. Right
below the periosteum
Haversian canals
• Narrow channels concentric with lamellae that
house bloods vessels; delivering nourishment to
bone tissue
Spongy bone
• Beneath compact bone
• Connective tissue
• Lattice work structure (light & strong)
• Contains Red bone marrow
Bone marrow:
Red bone marrow
o Found in [Spongy bone, ends of long bones, sternum, ribs,
vertebrae, pelvis]
o Produces R.B.C’s, Platelets, and W.B.C’s (not all though)
Yellow bone marrow
o Found in [Shafts of long bone]
o Largely exists as a fat cells acting as an energy reserve
o Can turn into R. bone marrow if severe blood loss occurs.
5
Bone Development
Fetal ossification
o During the 2nd month, much of the skeleton is made of cartilage
o During the 3rd month, osteocytes begin to release and lodge
mineral in between the spaces between cartilage cells.
o Does all cartilage turn to bone?
Bone elongation
o Bones continue to grow until no more cartilage is left to replace
o The site of bone elongation is near the ends of long bones;
epiphyseal plate
o The epiphyseal plate is composed of 8 columns of cartilage cells
that divide, pushing the older cells towards the middle
o The oldest cartilage cells get replaced by newer bone, thus the
bone is older the closer it is to the middle.
o Long bones grow in length, circumference, and density
6
Joints
The place where two bones meet
o Between the bones of the vertebral column, except the top two
7
Joint structure and disease
The places where two bones meet is
covered with cartilage that protects
the bone surface from friction.
Ligaments: tough bands of connective
tissue that hold bones of a joint
together
Synovial fluid: secreted from
membranes in the joints that lubricates
(protects from friction) and nourishes
the tissues inside the joint.
Damage to the knee can cause swelling
in the compartments that contain
synovial fluid.
Disorders that cause painful, swollen
joints are described by the term
arthritis.
Arthritis
Rheumatoid Osteoarthritis
Autoimmune disease Degenerative
Inflamed, swollen, stiff, Thinner cartilage, bone on
deformed joints bone rubbing sensed by
periosteum nerves
Genetic disease Age-related
8
Section 1.3: Muscular System
The muscular system makes up 1/3 of
Was
body weight (about 600 muscles)
Types of muscle:
Moves parts of the Found only in the Lines the walls of the
body such as the walls of the heart; stomach, intestines,
limbs, trunk and pumps blood and blood vessels
face
Also found in the
uterus, digestive
tract, and bladder
Responsible for
moving substances
throughout the body
9
Muscle structure
Protein filaments make up the each myofibril. The thick ones are
myosin and the thin ones are actin. These filaments are arranged in
an overlapping pattern that gives striated muscles their striped
appearance
The myosin heads bend inwards, let go of the actin, then bend
inwards again. Shortening the sarcomere.
Muscles require ATP to detach the myosin heads from the actin. A
continuous supply of ATP is required for proper muscle movement.
11
Muscular Movement of Bones
Muscles are attached to the periosteum either directly or
through a tough fibrous cord of connective tissue called
tendons
The point where a muscle attaches to a stationary bone is
called an origin. The point where the muscle attaches to
moving bone is called an insertion
12
Muscle Fatigue
The physiological inability of a muscle to contract.
Oxygen debt
𝟔𝑶𝟐 + 𝑪𝟔 𝑯𝟏𝟐 𝑶𝟔 ⇒ 𝟔𝑯𝟐 𝑶 + 𝟔𝑪𝑶𝟐 + 𝑨𝑻𝑷 (for knowledge)
Oxygen is required for ATP synthesis through cellular
respiration.
After heavy exertion, the cardiovascular and respiratory
systems can’t keep up with the oxygen demand for energy
production.
Temporary lack of oxygen is called Oxygen debt.
Lactic acid and metabolic waste buildup in the muscle fibers.
Causing soreness from the acid.
CO2 is no longer produced in the muscle either.
13
Section 2.1: The Circulatory System
Circulation
Cardiovascular Lymphatic
The Heart
The heart is a muscular
organ that pumps blood
throughout the body
Located in the thoracic
cavity, behind the sternum,
between the two lungs.
Surrounded by a tough,
saclike membrane called
the pericardium. Secretes
a fluid that reduces friction
A septum (wall) divides The atrioventricular valves (AV)
the heart into two sides, prevent blood from flowing back
and prevents blood from into the atria
mixing.
The semi-lunar valves (SL)
Upper chambers are called prevent blood from flowing back
atrium. Lower are called into the ventricles.
ventricle
14
Circulation in the Heart
There are 6 blood vessels
that enter the heart (2
vena cava & 4 pulmonary
veins)
2 blood vessels exit the
heart (Aorta and
Pulmonary artery)
The largest blood vessel is
the Aorta
The thickest chamber is the
left ventricle
Blood is dark red when
deoxygenated and bright
red when oxygenated.
An electrocardiogram (ECG)
measures pulse
Veins are thin and less muscular than arteries with valves 17
inside because they undergo less pressure on their walls
than arteries.
Patterns of Circulation
Closed system
Discovered by William Harvey Circulation
Pulmonary subsystem Heart ↔ Lungs
Coronary
Hepatic (liver) Renal
(supply to
portal (kidneys)
heart)
Pulmonary Circulation
Systemic Circulation
Left ventricle Body Right atrium
Heart and all parts of the body except
lungs
19
Section 2.2: Blood
The functions of blood are to transports nutrients and oxygen to cells, and
carry CO2 & other waste materials away. It also transfers heat to the body’s
surface & plays a role in disease defense
20
Red Blood Cells
Erythrocytes
Formed in red bone marrow
Immature cells produce large amounts
of hemoglobin
o Hemoglobin is the iron-
containing protein that binds to
oxygen (and CO2)
Mature cells lack a nucleus
They have a life span of 120-130 days
21
Essential to the formation of blood clots
(preventing excess blood loss)
Platelets
Blood-clotting
Congregate at the damaged site
Life-span of 7-12 days
Made from fragments of very large cells
formed in the bone marrow
Release a clotting factor: Fibrin
The absence of one or more clotting factors
is Hemophilia
o Large cuts or internal injuries can be
life-threatening.
o Treated with protein injections
22
Blood Types
The A-B-O system of blood typing is based on the A & B
antigens on the surface of the R.B.C.
23
Section 2.3: The Respiratory Internal respiration:
Exchange of gases between
24
Gas Exchange and Transport
The driving force behind the diffusion of gasses between alveoli and
the bloodstream is the concentration gradient of CO 2 and O2
Transport of Oxygen
95-98% of oxygen moves in the r.b.c where it binds to hemoglobin
o 2-5% is dissolved in the plasma
Mechanism of Breathing
Inspiration
o Lower air-pressure inside lungs; higher
outside. Air rushes in.
Chest expands
Diaphragm flattens
Muscles contract to move ribs
move up and outward
Abs relax
Expiration
o Higher air-pressure inside lungs; lower
The rate of breathing is controlled by
outside. Air rushes out
the brain and brainstem
Diaphragm and rib muscles relax o They monitor CO2 levels in the
blood
Abs contract
A person can temporarily override the
Chest shrinks control system and take manual
control
26
Section 3.1: Nonspecific Defenses
How the body identifies agents that cause infectious disease and
defends itself against them.
Koch’s Postulate
Developed by Robert Koch
First used to identify anthrax (bacteria)
A step-by-step procedure to identify pathogens
27
First line of defense: Barriers
Mucous membranes
Epithelial tissues that secrete mucous
o Sticky substance that traps pathogens
o Swept by beating cilia to the pharynx where it is swallowed
o Lines the organs of respiratory system, urethra, vagina, and
digestive system
Protect the interior surfaces of the body.
Skin
Physical barrier against pathogens
Secretes sweat, oil, & waxes
o A special enzyme called lysosome in sweat destroys pathogens.
This paragraph is
poorly printed in many
copies of the book
28
Second line of defense: Nonspecific immunity
Inflammatory response
A series of events that suppress pathogens and speed up recovery
Stimulated by invading pathogens
Histamine is released
o Increases the permeability of blood capillaries
o Causes redness, warmth, swelling, pain
o Increases blood flow to damaged area
o Attracts phagocytes to the site of infection
Phagocytes: ingest & destroy foreign matter
o Macrophages
Large cells that engulf pathogens
Some are stationary & others seek pathogens
o Neutrophils
Most abundant type
Circulate the bloodstream
Natural killer cells
o Attack pathogen infected cells—not pathogens themselves.
o Effective at killing cancer cells and virus-infected cells
o Kills by piercing the membrane allowing water to rush in.
29
Temperature response
Chemicals secreted by macrophages and certain pathogens cause
fever
A temperature above 370 C is considered a fever
A high temperature (390 C) causes a break down in the proteins of
cells (denaturation). >410 C is fatal.
Proteins
About 20 proteins make up the complement system that circulate
the blood and become active when encountering pathogens.
They can form ring-shaped structures and puncture the
membranes of infected cells
Interferon
o Protein released by virus-infected cells; helps nearby cells to
resist viral infection.
o Some experiments show it has an ability to cure some types
of cancer
30
Section 3.2: Specific Defenses
Lymphocytes Adenoids
Phagocytes
Spleen
Macrophages
Site of maturation
*B cells can also mature in Tonsils
marrow
Lymph nodes
Bone marrow
31
Recognizing pathogens
Lymphocytes provide specific defense because they can recognize
antigens
o Any foreign bodies that the body doesn’t recognize
o Pathogens & their parts, pollen, toxins, venom, foreign molecules
Lymphocytes bind to antigens to start the immune response.
32
Cell mediated
Immune response
Humoral
Both immune responses occur at the same time and require a specialized
cell called helper T-cell.
The first step in both responses is a macrophage engulfing a pathogen and
displaying its antigens on the surface membrane
o Macrophages release the cytokine (protein) interleukin-I when a
helper T-cell binds to the antigens displayed.
The release of IL-1 activates more helper T-cells, which release
interleukin-II
IL-2 stimulates production of cytotoxic T-cells & and further division of
helper T-cells
Cell-mediated
o Actions of the T-cells
o IL-2 stimulates production of cytotoxic T-cells & and further
division of helper T-cells
Cytotoxic T-cells attack cells infected by pathogens & some
cancers by making a hole in the membrane of the cell
CT T-cells also attack parasites and foreign tissues
o Suppressor T-cells play a role in shutting down the immune
system after the pathogen has been cleared from the body
Humoral
o Actions of the B-cells
o IL-2 stimulates B-cells that have complementary antigens to
divide and change into plasma cells (some become memory cells)
Plasma cells make defensive Y-shaped proteins called
antibodies that bind to a specific antigen on the pathogen
surface (30,000 antibodies per second)
Antibodies do not destroy directly; but either deactivate or
cause destruction by nonspecific defense (like clumping
pathogens together for macrophage food or activating the
complement proteins)
33
Cell-mediated response
Humoral response
34
Primary and Secondary Immune Response
35
Problems of the Immune System
Allergies
o A physical response to an antigen {pollen, dander, dust mites, food,
fungal spores, }
o Symptoms of allergies are generally mild {sneezing, runny nose,
watery eyes, itchy swelling of skin}, but some can be lethal
o Much of the symptoms of allergies are cause by Histamine release
Can be treated with antihistamines
Asthma (symptom of allergy)
o Narrowing of the bronchioles due to substances in the air, making
breathing difficult
o Other respiratory tissues may also swell and become inflamed.
36
Section 3.3: HIV & AIDS
HIV is the virus; AIDS is the disease (acquired immunodeficiency
syndrome)
The virus is transmitted through
o Sexual contact
o Contaminated syringes or hypodermic needles
o Mother to fetus/infant (breast-feeding)
The virus is NOT transmitted through
o Casual contact (Hand-shakes)
o Air, water, toilet seats
o Insect bites
HIV binds to the CD4 receptor & CCR5 co-receptor on macrophages
o The virus replicates inside the macrophage (budding)
o HIV mutates inside the macrophage and is released without the
phagocyte dying.
o Mutations allow the virus to recognize receptors on other cells like
helper T-cells
T-cells do not have co-receptor CCR5
After binding to the helper T-cell, the virus replicates. This destroys the
T-cells.
The decreased no. of helper T-cells cripples the immune system, this
effect progresses to AIDS when the helper T-cell count falls below 200
cells per 1 ml blood.
37
Phases of Infection
Phase I
o Asymptomatic stage, can last up to 10 years
o Immune system attacks virus, viral replication occurs
o Anti-HIV antibodies after several weeks are produced so an HIV
test can be performed.
o Possibility of infecting other people even if there no symptoms.
Phase II
o Beginning or worsening of symptoms
o B cells (Plasma cells) continue to produce antibodies (Antibody
test can performed in this phase)
o Swollen lymph glands, weight-loss, diarrhea, forgetfulness, fatigue,
fever, abnormal thinking patterns.
Phase III
o Helper T-cell count falls drastically. HIV count increases
38
Section 4.1: Neurons & Nerve Impulses
The nervous system is responsible for:
Mental activities
Physical activities
Maintaining homeostasis
The functions of the nervous systems are carried out through nervous tissues which is
made up of nerve cells called neurons.
Neuron structure
The cell body contains a nucleus most of the organelles
Dendrites are membrane-covered extensions from the cell body that receive
signals from other cells.
The axon is a long membrane-bound projection that carries the electrical signal
to a muscle, gland, or other neuron. The signal is called action potential
Myelin sheaths (Produced by Schwann cells in non-CNS neurons) are lipid
bilayers that insulate the axons, speeding up the transmission of action
potential
o The gaps in between sheaths are called nodes of Ranvier.
The axon terminals are at the end of a neuron and terminate in the synaptic
cleft, which joins the presynaptic neuron and the post synaptic cell.
Neurons do not touch and communicate at the synapse.
Neurotransmitters are sometimes released into the cleft to initiate action
potential in the postsynaptic cell (if enough potential difference is created)
Thus, communication between neurons involves chemical flow and electrical
activity.
39
Nerve impulses
All cells have a certain difference in charge across their cellular
membrane called membrane potential (measured in volts) produced by
ion movement across the membrane
Membrane potential depends on:
o Ability of ions to diffuse across the membrane
o The concentration of ions inside and outside the cell (concentration
gradient)
o The charge of the ions
Ions pass through proteins on the membrane called ion channels. Which
only allow certain ions under certain conditions
o For example, voltage-gated channels only open at certain
membrane potentials. Even a small change in voltage can affect the
permeability of the membrane.
Resting potential
A neuron is at rest when it is not sending or receiving a signal
(Polarization)
The inside of the neuron is more negatively charged than the outside due
to large negative-charge proteins that are unable to diffuse out of the cell
The outside is positively charged mainly because of Na+ ions and some
K+ ions. Na+ cannot move freely into the cell, but K+ ions readily diffuse
through K+ channels down their concentration gradient.
The resting potential is -70 millivolts
40
Action potential
The stimulation of a dendrite or cell body changes the permeability of the
membrane, allowing a small no. of Na+ ions to flow into the cell interior.
Reversal of polarity begins action potential.
If enough Na+ ions diffuse to create a certain threshold potential, the
voltage-gated Na+ channels open, causing a large no. of Na+ ions to flow
in (Depolarization)
The interior becomes more positively charged than the exterior
The action potential travels from where the cell body meets the axon, in
one direction, towards the axon terminals
Voltage-gated channels exist along the length of the axon and open when
the travelling action potential reaches them
Positive charge travels across the axon
Na+ voltage-gated channels close shortly after they open, K+ channels
open; outward flow of K+ ions. The Na+ ions are pumped out by sodium-
potassium pumps and K+ is moved in. This action requires ATP.
(Repolarization)
The neuron cannot generate another action potential until resting potential
(-70mv) is restored (Refractory period).
41
Neuron communication
When the action-potential reaches the synapse, the vesicles fused with the
presynaptic membrane, releasing neurotransmitters into the synaptic
cleft
Neurotransmitters diffuse across the cleft to bind to receptor proteins in
the postsynaptic cell and stimulate chemically-gated channels to allow
Na+ ion flow; continuing the electrical signal.
o Too few channels may open
Not enough voltage for action potential in postsynaptic
membrane
o Other channels may open allowing negative proteins
Potential difference becomes more negative; no action
potential in postsynaptic membrane
Neurotransmitters are quickly reabsorbed or broken down by enzymes so
that their effect doesn’t last long.
42
Section 4.2: Structure of the Nervous System
Central (CNS) Peripheral (PNS)
Sensory Motor
Brain Spinal Chord
division division
2 Frontal
Thalamus Midbrain Sympathetic
lobes
2 Parietal
Hypothalamus Pons Parasympathetic
lobes
2 Temporal Medulla
lobes oblongata
2 Occipital
lobes
o The CNS interacts with the PNS through 12 pairs (24 total) of
cranial nerves that connect the brain with the head and neck, and
31 pairs (62 total) of spinal nerves that connect to the rest of the
body.
Neurons that carry signals away from the CNS are called efferent
neurons
Neurons that carry signals towards the CNS are called afferent neurons.
43
Cerebrum
The largest portion of the brain identified by its highly folded outer layer
called the cerebral cortex
o The cortex is made up of gray matter
Made up of two hemispheres that are connected by a band of axons called
the corpus callosum
The interior below the cortex of myelinated axons called white matter
that links regions together
Functions in the brain are not symmetrically localized
o For example, the right-side controls reasoning and spatial
information while the left controls speech and language
Due to crossover of neurons, many impulses originating in the right side
of the brain controls the left side of the body.
Diencephalon
Above the brainstem and below the cerebrum, contains relay centers
Thalamus
o Serves as a relay center and redirects sensory information to where
they are supposed to be interpreted inside the cerebral cortex
Hypothalamus
o Maintains homeostasis
o Directly or indirectly controls the body’s hormone production
44
Brainstem
Midbrain
o Relays visual and auditory information
Pons
o A relay for communication between the hemispheres and the
cerebellum
Medulla oblongata
o Serves as the as a relay center and a control center for:
Respiratory rate
Heart rate
Other homeostatic activities
Ventral roots
The ventral root is the efferent motor root and carries motor
information from the brain
Dorsal roots
The dorsal root is the afferent sensory root and carries sensory
information from sensory receptors to the brain
o Light, pressure, heat
o Sensory input travels in an orderly way (sensory input from
shoulders enters the dorsal roots of the upper spinal cord)
45
Sensory division
Sensory receptors and the interneurons that connect them to the CNS
Carry information from the body’s internal and external environments to
the brain
Spinal and cranial nerves send sensory information
Motor division
Made up of two independent systems—somatic and autonomic.
46
Section 4.3: Sensory Systems
Certain sensory receptors respond to stimuli that turns into action
potential, and is carried to the CNS through afferent neurons to be
interpreted by regions in the brain
Categories of receptors
Mechanoreceptor
{Hair cells (ear), located throughout
Pressure, tension, movement
skin, base of hair follicles. Touch
receptors concentrated in face, tongue,
and fingertips}
Thermoreceptor
{cold receptors (<200) and heat
Changes in temperature
receptors in skin (300-450)}
Chemoreceptor
{taste buds, olfactory receptors}
Chemicals
Photoreceptor
{rods and cones}
Variations in light
Pain-receptor
{base of the epidermis, throughout
Detect tissue damage. Stimulated
by mechanical, electrical,
interior of body, high concentration in chemical, and thermal energy
hands and mouth}
*The brain has a special region for each sense and any trauma or signal
received by that region is interpreted as a sensory input
o For example, a blow to the occipital lobe causes you to see “white
stars” because that’s the region involved in processing visual
information
47
Hearing & Balance
The ear has two functions: hearing and balance
Auditory canal Connects external ear to tympanic
membrane
Tympanic membrane The eardrum: vibrations in the air cause
it to vibrate as well
Ossicles (hammer, anvil, stirrup) Transfer vibrations of the eardrum to
the oval window
Oval window Separates the middle ear and the inner
ear
Regulates air pressure in the middle
Eustachian tube ear; equalizes the pressure on both
sides of the tympanic membrane.
Connects to the throat
Cochlea
Located in the inner air
Consists of 3 fluid-filled chambers
Contains the organ of Corti (organ of hearing)
o Located in the middle chamber, bottom membrane
Hair cells in the organ of corti bend against the 2nd membrane
o This opens ion channels, changing electrical potential releasing
neurotransmitters that stimulate the neurons in the auditory nerve
o Hair cells can be easily damaged by high frequencies
o A. potential Auditory nerve Midbrain Thalamus
Auditory cortex (temporal lobe)
Balance
The semicircular canals are responsible for balance inside the ear
Consist of three canals filled with fluid that contain hair cells
The hairs have particles of CaCO3 on top of them
When the head moves, the hairs move due to gravity or inertia of the calcium
carbonate
The brain interprets the bending as motion and orientation in space
48
Oval window
Eustachian tube
Vision
Cornea A clear protective layer where light
passes through first
Pupil Controls the amount of light entering the
eyes
Iris The colored part of the eye (contains
muscles)
Lens A crystalline structure that bends light
rays
Retina Light-sensitive inner layer
Rods Contain rhodopsin and respond to dim
light
Stimulated by bright light; 3 kinds of
Cones cones that respond to different colors.
Faulty or missing cones can cause
colorblindness
A. potential from optic nerve Thalamus Occipital lobe cortex
49
Taste and Smell
Taste
Taste buds
(10,000) Chemicals Neurons on the
dissolved by inner surface of
(embedded saliva bind to taste buds are
between bumps receptors stimulated
called papillae)
Smell
Olfactory
chemoreceptors
located in the Odor binds to
mucous lining of receptor, Action potetial
the epithelial tissue stimulating it
of nasal passages
Olfactory
Amygdala areas of the Olfactory bulb
(limbic) frontal lobe (limbic)
cortex
50
Section 4.4: Drugs & the Nervous System
Drugs are substances that change a person’s physical or psychological
state. A psychoactive drug alters the functioning of the central nervous
system.
51
Alcohol
A depressant that decreases the activity of the central nervous system
Increases circulation to the skin, lowers body temperature, decreases blood
flow to internal organs. Respiration rate initially increases then slows down.
o High doses can cause death by respiratory failure.
BAC is blood alcohol concentration
o There is an inverse relation between BAC and body temperature
o 0.30 or greater results in unconsciousness
o 0.50 or greater can be fatal
Alcohol consumed during pregnancy can lead to fetal alcohol syndrome
(FAS)
Tobacco
Highly addictive stimulant
Increases blood pressure and heart rate, decreases oxygen supply to body
tissues and blood supply to hands and feet.
o 60mg is the lethal dose
Diseases
Chronic bronchitis Inflammation of bronchi and
bronchioles
Emphysema A degenerative disorder in which
alveoli lose their elasticity &
eventually rupture
Lip, gum, and mouth cancer Chewing tobacco and snuff
52
Section 5.1: Hormones
Slow acting chemical messengers with long lasting effects that
are part of the endocrine systems & send instructions to cells
Functions and Secretion
Endocrine hormones
Regulate behavior
Growth and development
Regulate reproduction
Respond to external stimuli
Metabolism
Water and mineral balance
Hormones and specialized cells are collectively called the endocrine
system
Endocrine glands
Ductless glands that make and secrete hormones into the blood stream or
into extracellular fluid
Hormones travel to target cells and bind to specific receptor proteins on
the cell membrane, in the cytoplasm, or in the nucleus
Exocrine glands
Glands with ducts or tube-like structures that secrete substances inside
and outside the cell
o Sweat
o Mucous
o Saliva
o Water
o Enzymes
o Digestive glands
*Neurotransmitters are similar to hormones but they are part of the nervous system, have
shorter effects and don’t remain in the bloodstream for a long time.
53
Types of Hormones
Steroid (lipid or fat) Amino-acid based (peptide)
Fat soluble, made from cholesterol Single amino-acid or a protein made
up of 3-200 amino-acids
Amino-acid based
Steroid or Thyroid
54
Other Types of Hormones
Neuropeptides (amino acid based)
Secreted by nerves cells and can affect many cells (unlike neurotransmitters
which only affect postsynaptic cells)
Endorphins
o Regulate emotion, influence pain, and affect reproduction
Enkephalins
o Inhibit pain messages travelling towards the brain.
55
Section 5.2: Endocrine Glands
Hypothalamus & Pituitary glands
Area of the brain that coordinates most hormone production, located in
the diencephalon.
Responds to other brain regions and blood concentrations of circulating
hormones
The pituitary gland is suspended from the hypothalamus by a short stalk.
Anterior is regulated by blood vessels, posterior by axons
Directly secretes oxytocin and antidiuretic-hormone (ADH) through
neurosecretory cells whose axon terminals extend into the posterior
pituitary gland, where they are stored
Indirectly controls hormone production by secreting releasing and
release-inhibiting hormones through blood vessels that connect to the
anterior pituitary gland
o RH hormones stimulate the production of anterior pituitary
hormones
o RIH hormones inhibit the production of anterior pituitary
hormones
Prolactin and growth hormone (GH) are regulated by both RH
hormones and RIH hormones
o Follicle stimulating hormone (FSH), Thyroid stimulating
hormone (TSH), and adrenocorticotropic hormone (ACTH) are
regulated by RH hormones
56
Thyroid gland
Located under the larynx and on the trachea
Two lobes
Regulated by TSH (Thyroid-stimulating hormone)
Produces and secretes:
Synthesized from the
o Thyroxin
same amino-acid and
o Triiodothyronine iodine atoms
o Calcitonin
Stimulates calcium ion reabsorption by bones, thus
decreasing Ca+2 levels in blood.
Functions include
o Maintain normal heart rate, blood pressure, and body temperature
o Stimulate glucose-oxidizing, oxygen consuming enzymes.
o Generate heat and increase cellular metabolic rates
o Promote carbohydrate over fat usage for energy
57
Adrenal Glands
The human body has two adrenal glands superior
to each kidney.
Inner layer (adrenal medulla). Outer layer
(adrenal cortex)
o Secretion of hormones by the medulla is
directly controlled by the nervous
system
o Secretion of hormones by the cortex is
controlled by hormones from the anterior
pituitary
Adrenal Medulla
o Secretion of amino acid based hormones epinephrine (adrenaline)
and norepinephrine (noradrenaline)
o Reaction to stress; fight-or-flight
o Increase heart-rate, blood pressure, blood glucose level,
enlargement of bronchial tubes, blood flow to heart and lungs,
dilation of pupils
Adrenal Cortex
o Responds to ACTH released by anterior pituitary
ACTH-RH is secreted by the hypothalamus (caused by
stress)
o Secretion of steroid hormones Cortisol and Aldosterone
Cortisol promotes the production of glucose from proteins
Aldosterone raises blood pressure and volume by
stimulating salt and water retention by the kidneys
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Gonads: gamete-producing organs that also produce a group of steroid
hormones
Male Female
Testes Ovaries
A group of sex hormones called LH + FSH stimulate the
androgens production of Estrogen and
Progesterone
o Regulates secondary male
characteristic These hormones cause the monthly
release of an egg by an ovary
o LH stimulates testes to
produce testosterone Estrogen regulates secondary
female characteristics
Testosterone + FSH stimulate
sperm production
Pancreas
Mostly contains exocrine glands (that secrete digestive juices)
The parts of the pancreas that function as endocrine glands are the islets
of Langerhans
The islets produce two amino acid based hormones that regulate blood-
sugar levels (BSL)
o Insulin simulates body cells (especially muscles) to store glucose
or use it for energy; lowering the blood sugar level
o Glucagon stimulates the release of glucose into the bloodstream by
liver cells
o Insulin and glucagon are antagonistic hormones (opposite)
Insulin deficiency causes diabetes mellitus
o Excess glucose inhibits water reabsorption, large amounts of urine.
Acid-base/electrolyte imbalances. Nausea, rapid breathing, heart-
irregularities, depression, coma, death.
o Type I is autoimmune
o Type II results from insufficient insulin or unresponsive target
receptors
Excessive insulin causes hypoglycemia
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Thymus
Beneath the sternum, between the lungs and above the heart
Produces the hormone thymosin (amino-acid based )
o Stimulates the maturation of T cells
Pineal gland
Located near the base of the brain
Secretes Melatonin
o Melatonin concentration is low during the
day and high during the night, which
suggests that it has role in regulating sleep
patterns.
Parathyroid
4 glands embedded in the lobes on the thyroid (2 in each lobe)
Secrete the parathyroid hormone
o Stimulates the transfer of calcium ions from bone to the
bloodstream
o Antagonistic to calcitonin
o Proper calcium balance is important for
cell-division, muscle contraction, blood
clotting, neural signaling
Digestive cells
In the walls of digestive organs; regulate digestive processes
Cells in the stomach lining secrete gastrin
o Stimulates production of digestive enzymes and HCl
Cells in the small intestine lining secrete secretin
o Stimulates the release of digestive fluids from the pancreas
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Problems with endocrine glands
Disease Related gland or Cause Symptoms &
organ treatment
Hyperthyroidism Thyroid Overproduction of Over activity,
thyroid hormones weight –loss, high
blood pressure,
heart rate, and
body temperature.
Treated with
medication or
surgery
Hypothyroidism Thyroid Thyroid-hormone Growth
deficiency retardation,
lethargy, weight
gain, low heart rate
and body temp.
Treated with
thyroxine
supplements
Cretinism Thyroid Hypothyroidism Mental retardation
Goiters Thyroid Iodine-deficiency Same as
hypothyroidism
but different cause
Diabetes type I Pancreas Immune system Treated with daily
attack islets of injections of
Langerhans insulin and
sometimes islet
transplants
Diabetes type II (more Pancreas Heredity, but also Controlled through
common that type I) correlates with exercise and diet.
obesity and
unhealthy lifestyle
Hypoglycemia Pancreas Excessive insulin; Lower BSL causes
glucose is stored release of glucagon
rather than being and epinephrine.
properly delivered Lethargy,
dizziness,
nervousness, over
activity,
unconsciousness,
even death
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Feedback Mechanisms
To maintain homeostasis, feedback mechanisms control hormone
secretion
A feedback mechanism is one in which the last step in series controls the
first
Negative Feedback
The final step in the series inhibits the first
Thyroid hormones & Testosterone are an
example of hormones regulated by negative
feedback
An increase in thyroid hormone concentration
inhibits the release of TRH in one loop and
TSH in another loop
o This causes a decrease in the
concentration of thyroid hormones and
thus a decline in the negative feedback inhibition
Positive Feedback
The final step in the series stimulates the first, causing further release
of the secondary substance
Increased Estrogen stimulates the production of LH prior to
ovulation. LH stimulates further production of estrogen
62
Section 6.1: Male Reproductive System
The role of the male in reproduction is to
produce an deliver haploid (1n) sperm cells to
fertilize and egg cell
Testes are egg-shaped organs that are the site
of androgen and sperm production
o 2.5 cm in diameter and 4 cm long
o Made up of 250 compartments
o Formed in the abdominal cavity and
descended into a sac-like structure
(scrotum) before birth
The scrotum interior is 2-30C
cooler than the internal body temp.
(370) (34-350 in scrotum)
Slightly cooler temperatures are necessary for sperm
development
Seminiferous tubules are tightly coiled tubules contained in the
compartments of testes, each 80 cm long
o Sperm are produced in the lining of the tubules through meiosis but
mature in the epididymis
Sperm formation
LH stimulates the cells between seminiferous
tubules to secrete testosterone
FSH + Testosterone stimulate sperm production
in tubules
o 4 immature haploid sperm are formed
from each cell undergoing meiosis
Mature sperm has a head that contains the nucleus
(23 chromosomes) and digestive enzymes
Midpiece contains mitochondria that supply
energy
Tail (flagellum) that propels the sperm
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Path of Sperm
Seminiferous tubules (testes) Epididymis (2) Vas deferens (2)
Urethra (where sperm mixes with fluid from 3 other glands)
The epididymis is a long, coiled tubule closely attached to each testes and
is the site of maturation of sperm
o Immature sperm consists of a head and midpiece. Flagellum fully
develops inside the epididymis
Vas deferens is a duct with smooth muscles that help move sperm.
o Each vas deferens loops around the bladder and merges with the
urethra
The Exocrine glands
o Seminal vesicles
In between the bladder and rectum
Secrete a sugar-rich fluid that provides energy for the sperm
o Prostate
Below the bladder
Secretes an alkaline fluid that neutralizes acidity in the
female reproductive system
o Bulbourethral glands
Secretes an alkaline fluid that neutralizes the acidity of trace
urine in the urethra
Semen
o Forcefully expelled by contractions of the smooth muscle in
urethra (ejaculation)
o Most sperm are killed by the acidic environment of the female
reproductive tract
o Composition
Seminal vesicle fluid + Prostate fluid + Bulbourethral
fluid + Sperm (10% of volume, 300-400 mil sperm) +
Prostaglandins (stimulate smooth muscle contractions in
female reproductive system)
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Path of sperm in the male body
65
Formation of Eggs
A female is born with 400,000 immature eggs of which only 300-400 are
released (<1%) during a lifetime. One every 28 days via the ovarian
cycle
Eggs form through meiosis. Unlike sperm, each cell that goes through
meiosis produces 1 functional egg
Immature eggs are stalled in prophase I. Meiosis I (D) continues during
puberty when sex hormones stimulate egg
maturation
o 10-20 eggs resume meiosis, but
generally only one (C) completes it
o One of the haploid cells (E)
receives most of the cytoplasm, can
become a mature egg
o The other haploid cell (F) is called
the first polar body and dies
Meiosis II (G) is not completed until
ovulation occurs and a sperm fertilizes the
egg
o If fertilized, the egg completes the
final meiotic division into the
mature egg or ovum (H)
The ovum receives most of
the cytoplasm, which provides nutrients for the egg. It is
75,000 times larger than a sperm
o The other haploid cell (I) is called the second polar body and dies
66
Preparation for Pregnancy
The ovarian/menstrual cycles are simultaneous and repeat every 28 days
Hormones secreted by the ovaries and anterior pituitary glands regulate
the ovarian cycle
Follicular phase
o Lasts 14 days of the ovarian cycle
o The hypothalamus secretes a releasing hormones that stimulates the
release of FSH from the anterior pituitary
o FSH stimulates mitotic divisions of follicles in the ovaries that
nurture an egg (provide nutrients)
o The follicles begin secreting estrogen, which stimulates mitotic
divisions in the uterus making the lining (endometrium) thicker
o Meiosis I is complete in this phase
o The increase in estrogen concentration is a positive feedback
mechanism that causes an increase in LH levels which marks the
end of the follicular phase
Ovulation phase
o A sharp rise in LH midway in the cycle causes the follicle to
rupture and release the egg; ovulation
o The egg travels to the surface of the ovaries and is swept into a
fallopian tube. It has enough nutrients to survive for 24 hours
Luteal phase
67
Menstruation
If the egg is fertilized it becomes a zygote and is implanted in the uterus
where it will gestate for 9 months
If the egg is not fertilized the concentrations of estrogen and progesterone
will drop and the thickened uterine lining will rupture and slough off
to be discharged through the vagina
o This is known as menstruation and it lasts for 5-7 days of the
follicular phase
Women will continue to menstruate until about age 50 when there are not
enough follicles and the ovarian/menstrual cycle will stop; this is called
menopause
68
Section 6.3: Gestation
Fertilization
Path of sperm to egg
o Vagina cervix uterus fallopian tubes egg
Can occur 72 hours before, or 48 hours after, ejaculation
The egg released from the ovary is encased in a jelly-like substance
and cells from the follicle
Multiple sperm can attach to the membrane of the egg but only one
fertilizes it
Digestive enzymes in the head of the sperm allow it to penetrate
the membrane of the egg
When one sperm passes through the egg membrane and fertilizes
it, electrical charges released from the egg membrane keep the
other sperm attached to the egg away
o Only the head and midpiece of sperm enter the cell, the tail
(flagellum) remains outside
The fertilized egg completes Meiosis II
When the nuclei of the egg and sperm combine, the cell becomes
the 2n, 46 chromosome zygote. This begins gestation
69
Fertilization, cleavage & implantation
Pregnancy
Pregnancy is divided into three equal periods or trimesters.
Terms to know
Germ layers
o Endoderm, Ectoderm, and Mesoderm
o Different parts of the body develop from these layers
4 membranes aid the development of the embryo
o Amnion
Turns into the amniotic sac which cushions the embryo from
injury and keeps it most
o A second membrane forms the yolk sac
Does not contain yolk
Place where first blood cells and reproductive cells originate
o A third membrane called the allantois
Forms near the yolk sac
o Chorion
Surrounds all other membranes
One side forms finger like projections called chorionic villi
Blood vessels that form the chorionic villi originate in
the allantois
70
Placenta
o Chorionic villi and a portion of the uterine lining (endometrium)
form a close-knit structure called the placenta
o Structure where the mother nourishes the embryo. Substance can
diffuse across the placenta but maternal blood and fetal blood never
mix
o The embryo is attached to the placenta by the umbilical cord
(contains 2 arteries and 1 vein)
71
FIRST First 8 weeks The developing human
is known as embryo
TRIMESTER Two weeks after The placenta begins to
fertilization develop,
The most
dramatic changes
Early in the second Placenta secretes the
occur.
week hormone HCG
First 2-3 weeks
Beginning of 3rd week The primary germ
the embryo
layers developed.
resembles the
Ectoderm and
embryo of other
Endoderm first,
animals
later the Mesoderm
During the third week The brain, spinal
of pregnancy cord and rest of the
nervous system have
begun developing
72
SECOND
By 12 weeks Fetus’ arms and legs are
TRIMESTER developing. 20 buds for future
teeth appear
Mother’s uterus
enlarges
By week 21 Eyelashes, eyebrows,
Fetus’ heartbeat fingernails, lanugo have
can be heard formed
THIRD Changes
TRIMESTER
Fetus can see light and darkness from inside the
Fetus grows mother’s abdominal wall
quickly undergoing
changes to allow it
to survive without It can react to music and loud sounds
the mother
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Birth
Occurs 270 days or 38 weeks after fertilization
Childbirth is initiated by prostaglandins secreted by fetal membranes
and hormones produced by the both the fetus and mother
High levels of prostaglandins, oxytocin (posterior pituitary), and
estrogen causes the uterus to contract
o Amniotic sac breaks and amniotic fluid flows out through the
vagina (breaking water)
o Muscles in the cervix and vagina relax
Enabling them to enlarge and allow the fetus to pass through
Contractions of the uterus, vagina, and cervix push the fetus
Afterbirth is expelled shortly after the baby is born
Following birth
o Newborn’s lungs expand for the first time
o Umbilical cord is cut and tied
Its arteries and veins close off 30 minutes after birth and
changes in the baby’s blood vessels occur
Completion of cardiopulmonary and renal circulation
o The newborn’s respiratory and excretory systems soon become
fully functional
74
Section 7.1: Mendel’s Legacy
1843: entered a monastery in Brunn, Austria
1851: entered the University of Vienna
Researched heredity
o Transmission of characteristics from parent
to offspring
Studied with many plants but most famous for his
work with a species of garden peas called Pisum
sativum
anther
stigma
75
Mendel’s Experiments
76
Mendel’s Laws
Recessive and Dominant Traits
Certain traits disappeared and reappeared in later generations
Mendel concluded that one factor may mask or prevent another
factor from having an affect
Mendel called factors that masked other factors and whose traits
were expressed fully dominant
Traits that reappeared/were masked he called recessive
Traits controlled by recessive factors had no observable effect on
appearance when paired with a trait controlled by a dominant
factor
77
Independent Assortment
Homologous
chromosomes
Normal gametes
78
Section 7.2: Genetic Crosses
Genotype: the genetic makeup of the organism (alleles inherited)
Phenotype: the appearance of the organism (expression of alleles)
Phenotype is also influenced by environmental factors such as
nutrition
Homozygous (true-breeding): both alleles are alike (PP, pp)
Heterozygous: alleles are different (Pp)
Monohybrid
Homozygous x Homozygous
o Homozygous dominant is crossed
with homozygous recessive
o 100% chance of heterozygous
genotype (Pp)
o 100% chance of the dominant
phenotype (purple flower)
79
Homozygous x Heterozygous
o If homozygous dominant
1:1 genotypic ratio (2 BB : 2 Bb )
100% chance of the dominant phenotype (black)
o If homozygous recessive
1:1 genotypic ratio (2 Bb : 2 bb)
1:1 phenotypic ratio (50% black 50% brown)
Heterozygous x Heterozygous
o 1:2:1 genotypic ratio (1 BB : 2 Bb : 1 bb)
o 3:1 phenotypic ratio (75% black 25% brown)
Testcross
o A parent displaying the dominant trait can either be heterozygous or
homozygous for that trait (In the case of complete dominance)
o To find the genotype, the parent with the unknown genotype is crossed
with a homozygous recessive individual
o Possible crosses
80
Incomplete dominance
o In the case of complete dominance, the
phenotypes of heterozygous and homozygous
dominant individuals are the same
o Incomplete dominance is when the heterozygous
genotype expresses a phenotype that is in
between or intermediate between the dominant
and recessive alleles (blending occurs)
o The genotypic ratio is 1:2:1 (1 RR : 2 Rr : 1 rr)
o The phenotypic ratio is also 1:2:1 Four o’clock flower
Codominance
o Heterozygous individuals express both alleles of a gene equally (blending
does not occur). Neither allele is dominant nor recessive.
o The MN blood type system is an example of codominance
81
Dihybrid
Homozygous x Homozygous
o All offspring are heterozygous for both
characteristics
100% RrYy
o All offspring display the dominant trait
for each characteristic
100% round, yellow
Heterozygous x Heterozygous
o 9:3:3:1 phenotypic ratio
9 round, yellow | 3 round, green | 3
wrinkled, yellow | 1 wrinkled, green
o 9 possible genotypes
Forked-line method
We can break down a dihybrid cross into
two monohybrid Punnett squares. By
multiplying the probabilities for two
monohybrid genotypes of different
characteristics, we get the total probability
for the combined dihybrid genotype. Can
also be applied to the phenotype.
82
Section 8.1: Discovery of DNA
Griffith’s Experiment
Fredrick Griffith studied Streptococcus pneunomia to try to find a vaccine
o A bacterium that causes lung disease in mammals
Used two strains of the bacterium in a series of experiments that provided
insight about the nature of hereditary material
S Strain R Strain
83
Avery’s Experiments
Oswald Avery and his colleagues wanted to know what the transforming agent was in
Griffith’s experiments (DNA, RNA, or Protein)
Enzymes were used to separately destroy each of 3 the molecules in a heat-killed S cell
o Protease was used to destroy protein
o RNase was used to destroy the RNA
o DNase was used to destroy DNA
Three experiments were performed, each with one of the molecules missing
The cells missing DNA did not transform R cells into S cells
Therefore they concluded that DNA is the hereditary factor responsible for
transformation in bacteria
Hershey-Chase Experiment
Martha Chase and Alfred Hershey tested wether DNA or protein was the hereditary
material transferred from bacteriophage (virus) to bacteria.
Radioactive isotopes were used to label the molecules in the phage
o 35
S was used to label DNA
o 32
P was used to label protein
The labeled phages were separately allowed to infect Escherischia coli (E. coli) bacteria
DNA Nucleotides
o DNA is a nucleic acid made up of repeating subunits called
nucleotides
o Each full turn of the helix has 10 nucleotide pairs
DNA Bonds
o Nucleotides along each strand are connected by covalent bonds
between the sugar of one nucleotide and the phosphate group of the
next
o Bases on one strand form hydrogen bonds with the bases on the
other strand
85
Nitrogenous bases
Double ring of carbon and nitrogen Single ring of carbon and nitrogen
atoms atoms
A&G T&C
Complementary bases
Erwin Chargaff discovered the percentage of adenine is equal to thymine, and
the percentage of guanine is equal to cytosine. This supports the hypothesis that
DNA is a double strand
o If an organism had unequal percentages of A & T and unequal
percentages of G & C, that would support the hypothesis that DNA is a
single strand
Bases pair by base-pairing rules and pairs of bases are called complementary
bases
The order of bases on a chain of DNA is called a base sequence
o Opposite strands have the complementary sequences
Base pairing is important because:
1. Hydrogen bonds help hold the two strands together
2. The complementary nature of DNA helps explain DNA replication (one
strand serves as a template for making a new complementary strand)
86
Section 8.3: DNA Replication
DNA replications is the process by which DNA is copied before a cell
divides by mitosis, meiosis, or binary fission
In each new double helix, one strand is from the original and the
other is new. This type of replication is called semi-conservative
replication.
87
Action at the Replication Fork
DNA replication occurs in different directions on each strand
Direction of the
replication fork
(unwinding)
Synthesis on the strand moving away from the fork leaves gaps in the newly
synthesized strand.
o Theses gaps are later joined together by an enzyme called DNA ligase
88
Section 8.4: Protein Synthesis
Protein synthesis is the mechanism by which genes are expressed and their
function in making proteins that determine traits in organisms
Genes are segments of DNA that code for a hereditary character.
o Genes direct the production of proteins through an intermediate called
ribonucleic acid (RNA)
Melanin is a pigment protein whose production is directed by
genes in hair-follicles that determine hair color
Genetic information flows in 2 steps
o Transcription
DNA acts as a template for a
RNA
o Translation
RNA directs assembly of
proteins
Forming proteins based on genetic
information in DNA carried out by RNA is
called protein synthesis or gene expression
o The is process summarized as: DNA RNA protein
Proteins protect the body against infection (antibodies), and carry oxygen in
the red blood cells (hemoglobin)
DNA RNA
89
Types of RNA
tRNA
• Transfer RNA , which transfers amino acids to the ribosome to
make a protein
• Made of many nucleotides linked together
• Three nucleotides are emphasized (anti-codon)
mRNA
• Messenger RNA, a single stranded molecule that carries
intructions from a gene
• Carries the genetic message from the DNA in the nucleus to the
ribosome in the cytoplasm
• Each three-nucleotide sequence (codon) encodes for a specific
amino acid.
rRNA
• Part of the structure of ribosomes (ribosomal RNA)
• Ribosomes are the organelles where protein synthesis occurs
90
Transcription
91
The Genetic Code
Genetic codes is the term for the rules that relate a sequence of nitrogenous
bases in nucleotides corresponds to particular sequence of amino acids.
Each three-nucleotide sequence in mRNA codes for a specific amino acid
and is called a codon
o There are 64 codons
o Amino acids can have more than one codon, but no codon codes
encodes more than one amino acid
For example the codons encoding alanine are GCU, GCC,
GCA, GCG
The genetic code is nearly universal to all life and supports the idea that all
organisms share a common ancestor
A special codon, AUG, acts as a start codon. It codes for the amino acid
methionine
Certain sequences DO NOT code for any amino acid. They signal for
translation to end
o UAA, UAG, UGA are stop codons
o The translation of the mRNA sequence UAACAAGGAGCAUCC,
doesn’t produce any amino acid because it starts with a stop codon
92
Translation
Steps of Translation
1. INITIATION: tRNA and mRNA (ribosomal subunits) join together. tRNA
has two ends. Enzymes attach an amino acid to one end according to the
genetic code. The other end of tRNA has a three-nucleotide RNA sequence
complementary to mRNA codon called anticodon
o There are 61 anticodons
o tRNA carrying methionine (start codon) will have the amino acid on
one end, and the anticodon UAC on the other end.
The first amino acid in nearly all polypeptide chains is
methionine, but it may be removed later.
93
2. ELONGATION: Polypeptide chain is put together. tRNA with next amino
acid in the sequence pairs its anticodon with the second codon on mRNA.
o The ribosome detaches methionine from the first tRNA. The initial
amino acid then forms a peptide bond with the second.
o The first tRNA then exits and the ribosome moves a distance of one
codon along the mRNA
3. ELONGATION (continued): The growing polypeptide chain continues to
grow as it moves from one tRNA to the amino acid attached to the next
tRNA. The mRNA is moving along the ribosome
o The polypeptide grows one amino acid at a time
4. TERMINATION: The ribosome reaches a stop codon (UGA, UAA, UAG)
and the newly made polypeptide falls off
o There is no anticodon for the stop codons because they do not encode
any amino acid
5. DISASSEMBLY: Translation components fall apart, the last tRNA leaves,
and the machinery is now free to translate the same or another mRNA
o Several ribosomes may translate the same mRNA transcript at the
same time
o In prokaryotes translation can occur even before transcription has
finished. The lack a nuclear envelope
o In eukaryotes, translation occurs only after transcription is
finished
94
Section 9.1: Chromosomes & Inheritance
Francis Collins and his colleagues discovered the gene for cystic fibrosis
(CF)
o Jeff Pinard was Collins’ student
Thomas Hunt Morgan studied the small fruit fly Drosophila
Melanogaster
o He observed they that they have 4 pairs of chromosomes (3
autosomal 1 sex chromosome)
Females have two X’s and males have an X and Y
Sex Determination
Like other homologous chromosomes, sex chromosomes pair during
meiosis I. The sex chromosomes move on to different cells as meiosis
proceeds
o The Y chromosome has the SRY gene that codes for a protein that
causes gonads to develop as testes. Lack of the gene, and by the
extension the protein, causes the gonads to develop as ovaries.
95
Effects of Gene Location
One of Morgan’s students noticed
a male fruit fly that had white eyes
(different from the usual red eyes).
The white-eyed male cross with a
red-eyed female and all the F1
offspring were red-eyed.
Indicating that the trait was dominant
The F2 generation then presented with the expected 3:1 phenotypic ratio.
Unexpectedly, however, all the white-eyed flies were male
Morgan’s Conclusions
o Genes reside on chromosomes
o The gene for eye color is on the X chromosome, and since males
have no homologous X chromosome they are more likely to inherit
the recessive phenotype.
o These traits are known are sex-linked, because the alleles are
found on sex chromosomes. Traits on the X chromosomes are x-
linked, and y-linked on the Y chromosome
The X chromosome is much larger than the Y so there are
significantly more X-linked traits.
o Males that carry the recessive allele on the X chromosome will
exhibit the sex-linked trait.
Linked Genes
Genes that are inherited together and are always on the same
chromosome are linked genes
Linked genes are inherited together because there is a small distance
between them on the chromosome, thus decreasing the probability that
they are separated during the genetic recombination (crossing-over) that
occurs in meiosis
Linked genes DO NOT assort independently
Sets of linked genes are called linkage groups
96
Chromosome Mapping
The further two genes are the more likely a
cross-over will occur
The greater the number of recombinant traits,
the further genes are from each other
Alfred H. Sturtevant made the first
chromosome map for flies
o A chromosome map shows the linear
order of genes on a chromosome
The cross-over frequency is directly
proportional to the distance between two
genes
A map unit is defined as a cross-over
frequency of 1%
Mutations
A mutation is a change in the base nucleotide sequence of a gene or DNA
molecule
97
Chromosome Mutations
Nondisjunction
A chromosome fails to separate from homologue during
meiosis
o One gametes receives and extra copy of the
chromosome and another receives no copies
Down syndrome is a result of a nondisjunction mutation
where a person receives an extra copy of chromosome 21
98
Gene Mutations
Substitution
Point
Insertion
mutation Frameshift
A point mutation is any mutation
change that occurs within Deletion
a single gene or other
segment of DNA and
In substitution one nucleotide replaces another (if a
involves a single
codon is affected, the amino acid can be changed)
nucleotide
In deletion one or more nucleotides are in a gene are lost
In insertion one or more nucleotides are added
99
Section 9.2: Human Genetics
The inheritance of genetic traits is studied by analyzing the phenotypes of a
family in a pedigree
o The phenotype is easier to study because you only need to rely on the
appearance of offspring and/or parents in the pedigree
Roman numbers indicate the generation number (I, II, III, IV...)
100
Patterns of Inheritance
Autosomal Dominant
Autosomal dominant traits do not
Traits are autosomal if their genes are “skip” a generation and appear in at
located on the autosomal chromosomes least one parent of each generation
Appear in equal proportion for both Each individual with the trait will have
sexes a parent with that trait
Recessive
Usually skips a generation; an affected
offspring may have one, both, or neither
parent display the trait
Y-linked
SRY gene in humans
A Y-linked trait will ONLY appear in
males
101
Genetic Traits and Disorders
Genes have multiple patterns of inheritance and genetic disorders are
diseases or disabling conditions that have a genetic basis
Polygenic Inheritance
Most human characteristics are polygenic; meaning that they are influenced
by several genes
Skin color results from the additive effects of three to six genes. The greater
the number of melanin (black pigment) producing alleles per gene, the
darker the skin.
Complex Characters
Characters that are strongly influenced by the environment as well as genes
102
Multiple Alleles
Many genes have more than three alleles
The ABO blood type is controlled by the three alleles IA, IB and i
A, B, AB, O
103
Incomplete Dominance
Individual displays a trait that is intermediate between the two parents
(blending occurs), and has the heterozygous genotype
For example the hair type of Caucasians can either be straight, curly or
wavy. The wavy hair is the heterozygous intermediate between straight and
curly
X-linked Traits
Pedigrees usually affected many affected males and no affected females
o Several X-linked genes encode proteins that absorb red and green
light. Colorblindness occurs because a mutation disrupts those genes
and the eye cannot absorb certain colors
Sex-Influenced Traits
Autosomal traits involved in other complex characters
Male and females show different phenotypes despite having the same
genotype
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Single-Allele Traits
A single allele of the gene controls single-allele traits
May involve karyotypes, blood tests for certain proteins, or direct DNA tests
Chorionic villi sampling: physicians take a sample from cells derived from
the zygote that grow between the mother’s uterus and placenta.
Geneticists use fetal cells obtained through these methods to prepare fetal
karyotypes that might display chromosomal mutations. Allowing the
diagnosis of chromosomal abnormalities before birth
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Important Genetic Disorders
Huntington’s disease (gene HD)Autosomal dominant on
chromosome 4
Cystic fibrosis (gene CFTR) Autosomal recessive on
chromosome 7
Sickle cell anemia (gene HBB) Autosomal recessive on
chromosome 11
Tay-Sachs disease (gene HEXA) Autosomal recessive on
chromosome 15
Phenylketonuria (gene PAH) Autosomal recessive on
chromosome 12
Breast cancer (gene BRCA1) Autosomal dominant on
chromosome 17
Hemophilia (gene F8) X-linked recessive on
chromosome X
Phenylketonuria (PKU)
o Thick, sticky mucous builds up and blocks ducts in the pancreas and
intestines and causes difficulty breathing
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Gene Therapy
Involves replacing the defective gene; a technique places a healthy copy of
the gene into the cells of a person whose copy is defective.
The functional allele of the gene (such as CFTR) is placed in a virus that is
introduced to the patient’s lungs. The virus infects the cells and brings along
functional genes.
o The improvement only lasts until the functional genes slough off, and
the patient must undergo the procedure again
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Section 10.1: DNA Technology
No two people have the same DNA (except identical twins)
Only about 0.1% of the human genome varies from person to person, which
scientists can use to identify people based on their DNA
o Determining paternity
Non-coding DNA
98% of our genetic makeup (DNA) does not code for any protein. These
regions are called non-coding DNA
For each of the VNTR loci in a person’s DNA, they will have a certain
number of repeats. By knowing how frequently VNTR occur in the general
population, geneticists can determine how rare a particular DNA profile is.
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Steps in DNA Identification
1. Isolate the DNA and make copies if needed
Gel electrophoresis is a technique used to study DNA fragments, separating them according
to their size and charge
DNA samples cut with restrictions enzymes are placed in wells on a thick gel. An electric
current runs through the gel for a given period of time. DNA fragments are negatively
charged so they migrate towards the positive end of the gel; the smaller fragments migrate
faster, which separates the DNA by size.
DNA is then transferred to a nylon membrane and radioactive probes bind to
complementary DNA. After that, an X-ray film is exposed to the radiolabeled membrane.
The resulting pattern is called a DNA fingerprint
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Recombinant DNA
Recombinant DNA results when DNA from two different organism is joined.
Cloning Vectors
A clone is an exact copy of a DNA fragment, whole cell, or complete
organism. Cloning is the creation of a genetic duplicate (exact copy).
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An application of recombinant DNA is the
production of insulin (the first recombinant DNA
product)
The human gene for insulin is extracted from DNA
using restriction enzymes
Plasmids are also cut with restriction enzymes. The
donor gene is joined with the plasmid (vector) with
DNA ligase. It is now recombinant DNA
The recombinant DNA is insert into a host bacterium
and allowed to reproduce. The bacteria containing the
donor can be identified using probes
Probes
A strand of RNA, or single-stranded DNA that is labeled with a
radioactive element or fluorescent dye and that can base-pair to specific
DNA.
The probe for the donor gene in the figure (human insulin gene) is the
mRNA for the gene
The DNA from the bacteria is transferred onto filter paper. When viewed
under ultraviolet light or exposed to photographic film, the cell clones with
the donor DNA and the attached probe glow, revealing its location.
After identifying which bacterium received the donor gene, more of the
specific recombinant bacterial clone can be grown.
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