ANIMALS : Form and Function

A. Animal Cell Types and Tissues

B. Animal Systems and Processes
1. Support and Protection
2. Movement
3. Digestion and Nutrition
4. Gas Exchange
5. Transport/Circulation
6. Excretion and Osmoregulation
7. Regulatory Mechanisms
Four main categories of animal tissues

1. Epithelial Tissue

2. Connective Tissue

3. Muscular Tissue

4. Nervous Tissue
1. Epithelial Tissue

• Forms outer coverings and inner linings

• compact; tightly packed cells

• little intercellular substance

• Polarized
• With apical and basal surfaces
1. Epithelial Tissue

• The apical surface is exposed to air or fluid

• may contain microvilli, cilia, flagella

• Basal lamina/ Basement

membrane
• where the cells at the base of
the barrier are attached
Types of epithelial tissue according to layering

1. simple epithelium
- Made up of a single layer
of cells

2. stratified epithelium
- Made up of many layers of
cells

3. pseudostratified epithelium
- Made up of a single layer
of cells but appears
stratified
Types of epithelial cells according to shape

1. Cuboidal

2. Squamous

3. Columnar
Simple squamous epithelium

• flattened cells
• lining of blood capillaries, lungs, and other
surfaces

• allow passive diffusion of gases and tissue fluids

into and out of cavities
Stratified squamous epithelium

• adapted to withstand mild

mechanical abrasion

• basal layers of cells

undergo continuous
mitotic divisions

• lines the oral cavity,

esophagus, anal canal,
vagina of mammals, skin
Simple cuboidal epithelium

• short, boxlike cells collecting duct in kidney

• usually lines small ducts and tubules

• may have active secretory and absorptive
functions
Simple columnar epithelium

roof of mouth of toad

• like cuboidal epithelium but cells are taller

• found on highly absorptive surfaces such as
intestinal tract and female reproductive tract
• in some organs, cells may be ciliated
Stratified columnar epithelium

salivary duct

• consists of at least two layers of cells

• found along some areas of the anorectal region
and salivary duct
2. Connective Tissue

• “Connects”/ Binds/ Supports different organs

• Allow space for exchange of metabolites

between blood and tissues

• Few cells, Large intercellular substance (aka

extracellular matrix/ECM)
2. Connective Tissue

• Extracellular matrix

- permit diffusion of nutrients, substances, water,

gases, and wastes

- important in areas where small blood vessels are

absent
Major types of connective tissues in vertebrates

A. Fibrous connective tissue

– dense parallel bundles of
collagenous fibers
– forms tendons and
ligaments
Major types of connective tissues in vertebrates

B. Loose connective tissue

– binds epithelia to underlying tissues
– functions to hold organs in place
Major types of connective tissues in vertebrates

C. Adipose tissue
– specialized loose
connective tissue for
fat storage
– pads and insulates the
body and stores fuel
as fat molecules
Major types of connective tissues in vertebrates

D. Cartilage
– has abundant collagenous
fibers embedded in a
matrix called chondroitin
sulfate
– chondrocytes secrete
collagen and chondroitin
sulfate
– Main skeletal support
among sharks and
embryos of most
vertebrates
Major types of connective tissues in vertebrates

E. Bone
– the skeleton supporting most vertebrates
– mineralized connective tissue

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Major types of connective tissues in vertebrates

E. Bone
– Osteoblasts are cells that deposit a matrix of
collagen
– then, calcium, magnesium, and phosphate ions
combine and harden within the matrix into the
mineral hydroxyapatite
– the combination of hard mineral and flexible
collagen makes bone harder than cartilage without
being brittle

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Major types of connective tissues in vertebrates

F. Blood
– Made of:
1. Plasma (55%)
–matrix consisting of water, salts, and a variety
of dissolved proteins

2. Formed elements (45%)

–erythrocytes, leukocytes and cell fragments
called platelets

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

3. Muscle Tissue

• composed of long cells called muscle fibers that

are capable of contracting when stimulated by
nerve impulses

• most abundant tissue in most animals

• muscle contraction accounts for most of the

energy-consuming cellular work in active animals
Types of muscles tissue

1. skeletal muscle
• has cylindrical and striated cells with multiple nuclei
(syncitial)
• occurs in muscles attached to skeleton

• functions in voluntary movement of body

Types of muscles tissue
2. smooth muscle

• spindle-shaped cells, each with a single nucleus

• cells have no striations
• involuntary

• blood vessel walls and walls of the digestive tract

• functions in movement of substances in lumens of
body
Types of muscles tissue

3. cardiac muscle
• has cylindrical but branching striated cells, each with a
single nucleus
• involuntary

• occurs in the wall of the heart

• functions in the pumping of blood
4. Nervous Tissue

• irritability and conductivity; senses stimuli and

transmits signals from one part of the animal to
another
• neuron – functional unit of nervous tissue
4. Nervous Tissue

•Neurons consists of a cell

body, dendrites and axons
•Dendrite – transmits
nerve impulses from their
tips toward the rest of the
neuron
•Axon – transmits impulses
toward another neuron or
toward an effector, such as
a muscle cell
4. Nervous Tissue

Types of neurons:
• sensory (afferent)
• motor (efferent)
• interneuron
 Animal Organ System
System Function
Integumentary Protection
Skeletal Support
Muscular Movement
Digestive Digestion and Nutrition
Circulatory Transport/ Circulation
Excretory Excretion/ Osmoregulation
Nervous Regulation
Endocrine Regulation
 Animal Organ System
System Function
Integumentary Protection
Skeletal Structural Support
Muscular Movement
Digestive Digestion and Nutrition
Circulatory Transport/ Circulation
Excretory Physiological Excretion/ Osmoregulation
Nervous Regulation
Endocrine Regulation
 Animal Organ System
System Function
Integumentary Protection
Skeletal Structural Support
Muscular Movement
Digestive Digestion and Nutrition
Circulatory Transport/ Circulation
Excretory Physiological Excretion/ Osmoregulation
Nervous Regulation
Endocrine Regulation
 I. Integumentary System
Functions:
1. protective wrapping
– Protects against physical injury and bacteria
– moisture proofing
– protect underlying cells against UV
2. regulatory function (i.e. temperature regulation)
3. sensory, excretory, respiratory function
4. behavioral interactions between individuals
 Vertebrate Integument
Composed of Epidermis and Dermis

Epidermis – Epithelial
Dermis – Connective
Epidermis
– Stratified squamous epithelium
– No blood vessels
– Basal cells undergo frequent
mitosis
– Outer cells are displaced
upward by new cells beneath
– keratinization takes place
– cornified cells,
– highly resistant to abrasion
and water diffusion
– comprise the outermost
stratum corneum
Dermis
– connective
tissue
– contains blood
vessels, nerves
– support,
cushion, and
nourish the
epidermis
– includes
macrophages
and
lymphocytes
Epidermal derivatives
Dermal derivatives
Hairs
– epidermal growths that function in protection
– shaft, root, and follicle
– sebaceous glands, arrector pili muscle, and hair
root plexus (touch)
Nails
• plates of highly packed, keratinized cells
• protection, scratching, and manipulation
• formed by cells in nail bed called the matrix
(in area of lunula)
• 1 mm / week
Skin Glands
• Sebaceous (oil) glands
– usually connected to hair
follicles
– fats, cholesterol, proteins,
salts, and cell debris
– moistens hair and
waterproofs skin
Animal coloration
– vivid and dramatic when serving as important
recognition marks or warning coloration
– subdued or cryptic when used for camouflage
 Quiz
1. Cartilage A. Epithelial
2. Epidermis B. Connective
3. Wall of stomach C. Muscular
D. Nervous

4. Reptile scale A. Epidermal derivative

5. Fish scale B. Dermal derivative
 II. Skeletal System

A solid (rigid) or fluid (hydrostatic) system

providing a medium for antagonistic muscle interaction

that may or may not have protective and supportive

functions
 1. Hydrostatic Skeleton
• Involves cavities filled with fluids that are
incompressible and of constant volume

• Serve as support and allows for muscular

action

• Present in many invertebrates

45
Hydra with gastrovascular cavity
Earthworm with fluid-filled coelom
 2. Rigid Skeletons
• consist of rigid elements
• usually jointed
• muscle attachment
• 2 principal types
– exoskeleton
– endoskeleton
• Exoskeleton - external skeleton
– Molluscs - composed of calcium carbonate
– Arthropods - composed of chitin
– protection and locomotion
• Endoskeleton - internal skeleton
– Echinoderms and vertebrates
– mineralized bone and cartilage
– support, protection, and reservoir of calcium and
phosphorous
– grows as the animal grows
✓does not limit space for internal organs
✓supports greater weight
Cartilage

− major skeletal element

in jawless vertebrates (i.e
lampreys) and
elasmobranchs (sharks
and rays)
Bone
− living tissue having significant deposits of
calcium salts in the extracellular matrix
Types of Bone Substance

− compact bone
− bone substance that
is dense
Types of Bone Substance

− cancellous or spongy bone

− bone composed of thin intersecting lamellae,
usually found internal to compact bone

Red Marrow
vs
Yellow Marrow
Types of Bone Ossification

− intramembranous bone
− any bone that develops without any
associated cartilage
− i.e. parietal and frontal bones of the
face

− endochondral or replacement bone

− any bone that develops in and
replaces cartilage
− i.e. long bone
 Renewal of Bones
• Osteoclasts
– break down bone
– remove worn cells
– deposit calcium in
the blood
– work with
osteoblasts to heal
broken bones
Vertebrate skeleton

2 main divisions

– axial skeleton (skull, vertebral column, sternum,

and ribs)

– appendicular skeleton (limbs, fins, wings, pectoral

and pelvic girdles)
 Classification of Joints
• Fibrous Joints (synarthroses)
– immovable
– between cranial bones, tibia & fibula, radius & ulna
 Classification of Joints
• Cartilaginous Joints (amphiarthroses)
– slightly movable
– between vertebrae
 Classification of Joints
• Synovial Joints (diarthroses)
– freely
movable
– bones
separated
by a cavity
– ball and
socket,
hinge
joints
• Sprain
– damage to one or more ligaments in a joint
• Scoliosis
– Spinal curvature
 III. Muscular System

• Skeletal muscles
–attached to the
skeleton by
cable-like fibrous
connective
tissue called
tendons
• Skeletal muscles
– arranged in
antagonistic pairs
• can only contract,
cannot push
• when one muscle
contracts, it
stretches its
antagonistic
partner
• The Sliding Filament Model
 Muscle Performance

– slow oxidative fibers (red muscles)

• for slow, sustained contractions without fatigue
• contain extensive blood supply
• high density of mitochondria
• abundant stored myoglobin
• important in maintaining posture in terrestrial
vertebrates
 Muscle Performance
fast fibers
1. fast glycolytic fiber (white muscles)
• lacks efficient blood supply
• pale in color
• function anaerobically
• fatigue rapidly
2. fast oxidative fiber
• extensive blood supply
• high density of mitochondria and myoglobin
• function aerobically
• for rapid, sustained activities
 Energy for Contraction

– ATP, immediate source of energy

– glucose broken down during aerobic metabolism
– glycogen stores can supply glucose
– slow and fast oxidative fibers rely heavily on
glucose and oxygen

– fast glycolytic fibers rely on anaerobic glycolysis

– muscles incur oxygen debt during anaerobic
glycolysis
• Muscle Strain
– Aka pulled muscle
– Muscle injury usually due to
overstretching
 IV. Digestive System

FLUID FEEDING FILTER FEEDING

SUBSTRATE
BULK FEEDING FEEDING
 Types of Digestive System
• Incomplete – there is only one opening; no anus

Paramecium Hydra

Faciola
 Types of Digestive System
• Complete – there is a mouth opening and an anus

ANNELIDS

EARTHMORMS
VERTEBRATES
Four Main Stages of Food Processing
Human Digestive System
 Human Mouth and Esophagus

•Food is called bolus if it passes

through the esophagus
Human Stomach

•Food is called
chyme after it
passes through the
stomach
Human Small Intestine
• Made up of three regions:
1. duodenum
- Nearest to the stomach; 26 cm in length
- Where pancreatic enzymes are released
2. jejunum
- Next to duodenum; 2.5 m in length

3. ileum
- Last segment of the small intestine; 3.5 m in length
- Contains Peyer’s patches
- Organized lymphoid tissues
- Protects the intestinal lumen from pathogenic
bacteria
Villi
Human Large Intestine/Colon

• recovers water that has

entered the alimentary
canal

• harbors a rich flora of

mostly harmless bacteria

• the terminal portion of the

colon is called the rectum,
where feces are stored until
they can be eliminated
• the length of the vertebrate digestive system is
also correlated with diet
• ruminants (deer, cattle, and sheep) have the
most elaborate adaptations for a herbivorous
diet
 Nutritional Requirements

• A nutritionally adequate diet satisfies three

needs:
– fuel (chemical energy)
– organic raw materials for synthesis of
biomolecules
– essential nutrients
–If the diet of a person or other animal is
chronically deficient in calories,
undernourishment results
–an animal whose diet is missing one or
more essential nutrients is said to be
malnourished
– marasmus, general
undernourishment from a
diet low in both calories
and protein

– kwashiorkor, protein
malnourishment from a
diet adequate in calories
but deficient in protein

– overnourishment or
obesity results from
excessive food intake
• in mammals, a hormone called leptin,
produced by adipose cells, is a key player in a
complex feedback mechanism regulating fat
storage and use
• animals require 20 amino acids to make proteins
• essential amino acids must be obtained from
food in prefabricated form

– eight amino acids are essential in the adult human

(phenylalanine, lysine, isoleucine, leucine, valine,
methionine, tryptophan, and threonine) with
histidine and arginine essential for normal growth of
children
• protein deficiency from a vegetarian diet can
be avoided by eating a combination of plant
foods that complement each other to supply all
essential amino acids
• Vitamins are organic molecules required in the
diet in small quantities
• Minerals are simple inorganic nutrients, usually
required in small amounts
 V. Respiratory System

• cellular respiration, oxidative processes within

cells

• external respiration, exchange of O2 and CO2

between the organism and its environment
 Gas Exchange Surfaces
• for diffusion to be effective, gas-exchange
regions must be:
– moist
– thin
– relatively large

• effectiveness of diffusion is enhanced by

vascularization
 Respiratory Organs
• cutaneous respiration (direct diffusion)
 Respiratory Organs
• Tracheal systems (branching system of tubes)
 Respiratory Organs
• Gills or branchia (outfoldings)
How a fish ventilates its gills
 Respiratory Organs
• Lungs (invaginations)
• Lungs of mammals
• Lungs of mammals
Arrange the following in correct order of
development

A. Genitals
B. Heart
C. Limbs
D. Lungs
E. Neural development
VI. Circulatory System
Functions of the
Circulatory
System:
– transport
– defense
– regulation
Animals without Circulatory System

protozoans
sponges

flatworms cnidarians
 Two Types of Circulatory System

insects, other arthropods, earthworms, squids,

most mollusks octopuses, vertebrates
 Plan and Parts of Vertebrate Circulatory System

• The Vertebrate Circulatory System

• Closed type
• Heart :
• Atrium – receive blood from circulation
• Ventricle – pumps blood to blood vessels
 Human Heart

(Bicuspid or mitral valve)

(Tricuspid valve)
 The Cardiac Cycle

Systole - contraction Diastole - relaxation

• the heart sounds we can hear with a stethoscope
are caused by the closing of the valves
– sound pattern is “lub-dup, lub-dup, lub-dup”
– “lub” is created by the recoil of blood against
the closed AV valves
– “dup” is the recoil of blood against the
semilunar valves
The control of heart rhythm
 Measurement of blood pressure

•Makes use of a sphygmomanometer and the brachial artery

•Systolic pressure - peak pressure in the arteries, which occurs near the
end of the cardiac cycle when the ventricles are contracting

•Dyastolic pressure - minimum pressure in the arteries, which occurs near

the beginning of the cardiac cycle when the ventricles are filled with blood
The Blood
• Macrophage – develop from monocytes (5% of
white blood cells)

– attack foreign microbes by

phagocytosis

– involved in non-specific immunity

Lymphocytes

– Key cells of the immune system

– Utilizes antigen-antibody
interactions
Antigen
• A foreign molecule that elicits
a specific response by
lymphocytes

• React to specific antibodies

that are either attached to or
secreted by lymphocytes
Lymph Node
- Masses of
macrophages and
lymphocytes
 VI. Excretory System
Excretion
• removal of
metabolic
wastes from the
bloodstream

Mammals
Birds and
Fishes and
Reptiles
Amphibians

Animal Nitrogenous
Wastes Ammonia Urea Uric Acid
 Excretory Organs
Kidneys
VII. Nervous System

• Detection of external and internal

stimuli
• Control and coordination of
responses to stimuli
• Includes the brain, spinal cord,
sense organs
• Neuron – basic unit
• Sensory
• Motor
Patterns of Organization of Nervous System

• Nerve nets
• Cephalization – development of the head
– leads to more developed types of
nervous systems
• Vertebrate nervous
system
 VIII. Endocrine System

• Endocrine signaling: secreted molecules diffuse

into the bloodstream and trigger responses in
target cells anywhere in the body
 Signaling Molecules: Hormones

– chemical messengers utilizing the bloodstream

– regulate growth and development
– control the function of various tissues
– support reproductive functions
– regulate metabolism
Same Hormone → different functions
- due to different receptors
- or different tissue types as targets
 Pituitary Gigantism
results when GH is secreted in excess even before puberty
Hypopituitary dwarfism
• Decreased bodily growth

• Height and growth of all

other structures of the
individual are decreased
Thyroid and Parathyroid Glands
Regulation of calcium levels
in the blood
• A lack of PTH causes hypoparathyoidism, a
tetany
– calcium levels in the blood drop
– convulsive contractions of the skeletal
muscles
Pancreatic secretions

• The pancreas has both endocrine and exocrine

functions
– Exocrine function: secretion of bicarbonate ions and
digestive enzymes
– Endocrine function: insulin and glucagon secreted by
islets of Langerhans
Ovaries and testes
Produces the sex hormones
• Testes
– Androgens (e.g., testosterone)
• supports sperm formation
• promote development and maintenance of male
sex characteristics
• Ovaries
– Estrogens/Progestins3*
• stimulate uterine lining growth
• promote development and maintenance of female sex
characteristics
 Genetics
• Study of VARIATION and HEREDITY

– Variation – similarities and differences among

organisms
– Heredity – transmission of traits from one
generation to another
 Pre-Mendelian Concepts of
Heredity
• Knowledge of transmissible traits dates
back to 6000 B.C., where man had kept
records of pedigrees of domestic animals
 Pre-Mendelian Concepts of
Heredity
PREFORMATION (17th century)
• Sex cells contained miniatures of the adult
• Based on first observations of sperm cells
using a microscope

Leeuwenhoek (1672)
 Pre-Mendelian Concepts of
Heredity
PANGENESIS (18th-19th century)
• Each part of the body produced minute
particles (gemmules) which then
concentrates in the reproductive organs.
These contain both parents’ and acquired
characters.
• Many pre-Mendelian theories can be summarized
by the concept of “blending.”
• Several observations, however, have shown that
traits, in many cases, are not inherited as such.

• An alternative to the “blending” hypothesis is the

“particulate” hypothesis, wherein parents pass on
discrete heritable units or particles (which is now
referred to as genes) in an unaltered state.
• The mechanism for the particulate hypothesis was
first articulated by Gregor Mendel.
 Gregor Mendel
• 1856 to 1863 – cultivated
around 28,000 pea plants
for his experiments.

• 1866 – Published his

paper “Experiments in
Plant Hybridization” in the
Natural History Society of
Brunn.

• It was only in 1900 that

his work was recognized.
 Why Garden Peas?
• Have both stamens and carpal
– Capable of self- or cross-
fertilization
• Short generation time
• Produce many offspring
• Easy to care for
• Many paired characteristics
– Flower color → purple or white
– Seed color → yellow or green Garden pea
– Seed shape → round or (Pisum sativum)
wrinkled
 Mendel’s
Experiment
 Mendel’s
Experiment
 Mendel’s
Experiment
 Mendel’s
Experiment
 Mendel’s
Experiment
• Test Cross
– A cross between
homozygous
recessive with
dominant
phenotype
Some examples of simple
Mendelian traits in humans

DOMINANT recessive
FREE earlobe attached earlobe
FINGER HAIR no finger hair
FRECKLES no freckles
WIDOW’S PEAK no widow’s peak
NORMAL thumb hitchhiker’s thumb
 1st Mendelian Law: Law of
Segregation
• The factors (alleles) segregate (separate)
during gamete (sperm & egg) formation

• Each gamete contains only one factor

(allele) from each pair

• Fertilization gives the offspring two factors

for each trait
 2nd Mendelian Law: Law of
Independent Assortment
• The pair of factors for one trait segregate
independently of the factors for other traits

• All possible combinations of factors can

occur in the gametes
2nd Mendelian Law: Law of
Independent Assortment
 Mendelian Assumptions
• Each individual has a pair of factors (alleles) for
each trait

• These alleles are found in the nucleus

• If two different types of alleles are found in one

locus, one allele (dominant) will mask the effect
of the other (recessive)

• Completely expressed

• No mutation has taken place

 Post-mendelian fields of genetics
• Transmission Genetics
• Cytogenetics
• Molecular Genetics
• Population Genetics
 I. Transmission Genetics
• Examination of
inheritance patterns of
traits
• In humans, several traits, including many
diseases are transmitted based on
Mendelian patterns
 Achondroplasia (Dwarfism)

• Short stature (4 feet, 2 inches)

• Mutation in the fibroblast
growth factor receptor gene 3
(FGFR3)
• Homozygous dominants are
usually lethal
 AUTOSOMAL RECESSIVE EXAMPLES

• Cystic fibrosis

• Mutation in CFTR gene

– Protein allowing for
chloride salt transport

• mucus accumulates in
the respiratory system

• Hard-breathing,
digestive problems
 AUTOSOMAL RECESSIVE EXAMPLES

• Cystic fibrosis
 AUTOSOMAL RECESSIVE EXAMPLES

• Sicke-cell anemia

• Common among African

Americans

• RBCs become crescent

shaped

• Abnormal function and

cause small blood clots
Autosomal Recessive examples
• Phenylketonuria (PKU)

• Cannot consume food

with phenylalanine

• Low protein diet must be

consumed or else mental
retardation could result
 Sex-linked traits
• Coded by genes found in sex
chromosomes

X-linked
• The gene is found on the X-chromosome
• May be dominant or recessive

Y-linked
• The gene is found on the Y-chromosome
 X-Linked Recessive
EXAMPLE

• Colorblindness

• three different classes of

cone cells in the retina
– the gene for blue-
sensitive is autosomal
– the red-sensitive and
green-sensitive genes
are on the X
chromosome
 X-Linked Recessive
EXAMPLE

• Hemophilia

• Inability for blood to

clot
 Y-Linked
EXAMPLE

• Hypertrichosis
 II. Cytogenetics
• Study of the cellular or physical basis of
heredity (chromosomes)
Discovery of Chromosomes (1879)
• Walther Flemming discovered a
substance, which, during cell
division, separates into threadlike
strings, which became known as
chromosomes

• A splitting behavior was observed

wherein each daughter cell
receives identical complement of
chromosomes.
Chromosomal Basis of Inheritance
Chromosomal Basis of Inheritance
 Chromosomal Aberrations
• 46 chromosomes in
humans
– 22 pairs of autosomes and
a pair of sex
chromosomes
– Males have one X-
chromosome and one Y-
chromosomes
– Females have two X-
chromosomes
 Chromosomal Aberrations
• Deviation from this
pattern causes
severe defects
– 50% of spontaneous
abortion
– 20% of births with
congenital disorders
Chromosomal aberrations based on number
1) Euploidy
•Change in chromosome number involving whole
sets of chromosomes

2) Aneuploidy
•Change in chromosome number involving single
whole chromosomes
Chromosomal aberrations based on number

•Euploidy in humans
•Very rare
•Responsible for 17% of all spontaneous abortions
(triploids and tetraploids) and 3% of stillbirths
•Some survive up to a few
hours only

Triploid chromosome
number in humans
Chromosomal aberrations based on number
2) Aneuploidy
•Change in chromosome number involving single
whole chromosomes

•The chromosome number is not an exact

multiple of the haploid number of the species

•Results in non-disjunction of one or more

homologous chromosome pairs either during
meiosis I or meiosis II
Chromosomal aberrations based on number
2) Aneuploidy

• In humans, aneuploidy may occur either in the

sex chromosomes or in the autosomes

a. Aneuploidy in sex chromosomes

The presence of at least 1 X chromosome is
required for survival
 Chromosomal Aberrations
EXAMPLES

• Turner Syndrome
(45, X0)

• 1/2000 females
• Short stature
• Sterile
 Chromosomal Aberrations
EXAMPLES

• Klinefelter
Syndrome (47,
XXY)

• 1/500 males
• Long limbs
• Little or no pubic or
facial hair
• Usually sterile
 Chromosomal Aberrations
EXAMPLES

• Jacobs Syndrome (47, XYY)

• 1/1000 males

• Patricia Jacobs studied 197 inmates in Carstairs, a

high-security mental hospital in Scotland

• 7 out of 12 men with unusual chromosomes had an

extra Y

• violent or aggressive behavior

 Chromosomal Aberrations
EXAMPLES

a. Aneuploidy in sex chromosomes

b. Aneuploidy in autosomes
– Normal human development requires 2 copies of
most of the autosomes
– The presence of an extra copy (i.e. trisomy) or a
reduction (i.e. monosomy) of an autosome is
generally lethal to the developing embryo

– Only three trisomies have been found to have

resulted in live births.
• Trisomy 21, Trisomy 18, Trisomy 13
 Chromosomal Aberrations
EXAMPLES

• Down Syndrome
(Trisomy 21)
 Chromosomal Aberrations
EXAMPLES

• Down Syndrome (47, Trisomy

21)

• 1/800-1000 births
• Poor muscle tone
• Flat face
• Eyes slant upward
• Abnormally shaped ears
• Joints extremely flexible
• Underdeveloped fifth fingers
 Chromosomal Aberrations
EXAMPLES

• Edward Syndrome
(Trisomy 18)

• 1/6000 births
• heart defects
• growth retardation
• oddly clenched fists
• Unusual/absent fingerprints
• short large toes
• 90% of newborns do not
survive the first 6 months
 Chromosomal Aberrations
EXAMPLES

• Patau Syndrome
(Trisomy 13)

• fusion of the eyes

• malformed nose
• cleft lip/palate present
• May be polydactylous
• more than 80% die
during the first month
 III. Molecular Genetics

• Deals with the principles of variation and how it is

inherited or transmitted at the MOLECULAR level

• MOLECULAR – nucleic acids (DNA & RNA) and

proteins

• GENES – units of inheritance

– discrete DNA (or RNA) sequences

• CHROMOSOME – contains DNA and HISTONE

proteins
Packaging of DNA in a eukaryotic
chromosome

Nucleosome
•DNA+8 histone molecules
 Characteristics of a genetic
material
1. Stable – does not easily denature (940 C)

2. Replicable – sequence (and information) can be

copied

3. Translatable – sequence (and information) can

be converted into a different language (proteins)

4. Mutable – can be changed to yield variations

 Discovery of DNA (1869)
• Johann Miescher discovered a weak acid
'nuclein' (DNA) in the cells from pus in
open wounds as well as in nuclei of white
blood cells.
 Griffith’s experiment (1928)
• Utilizes the
ability of bacteria
to take up DNA
(transformation
 Types of nucleic acids
• DNA
– With pentose DEOXYRIBOSE sugar backbone

• RNA
– With pentose RIBOSE sugar backbone
Nucleic acids are made up of sequences of NUCLEOTIDES

Components of nucleotides:

1. Pentose sugar backbone

2. Phosphate group

3. Nitrogen base
Types of nitrogenous bases
Watson and Crick model of DNA
(1953)
 CENTRAL DOGMA OF MOLECULAR BIOLOGY

(REVERSE
TRASNCRIPTASE)

Reverse Transcription

Ribosomal RNA
DNA Messenger RNA Protein
Transfer RNA
TRANSCRIPTION TRANSLATION
(RNA (RIBOSOMES)
REPLICATION POLYMERASE)
(DNA
POLYMERASE)
Central Dogma of Molecular Biology
Beadle and Tatum’s One Gene-One Enzyme Hypothesis
•Synthesis of amino acid arginine in Neurospora

arg 1 arg 2 arg 3

PRECURSOR ORNITHINE CITRULINE ARGININE
HOWEVER, not all genes code for enzymes

Types of Genes

1. protein-coding genes – TRANSLATED

2. RNA-specifying genes – TRANSCRIBED ONLY

3. untranscribed genes
DNA Replication
• It is part of DNA
Synthesis.
• Duplication of
new DNA
molecule with the
same base
sequence as the
original DNA
molecule.
 2 old
strands

SEMICONSERVATIVE

2 new
strands
5’
DNA Replication
 Transcription

•Biosynthesis of RNA from a

DNA template

Types of RNA

1. Transfer RNA (tRNA)

– carries amino acids

2. Ribosomal RNA (rRNA)

– binds with proteins to form
ribosomes
3. Messenger RNA (mRNA)
– template for protein
synthesis
 Translation

•Biosynthesis of amino
acid sequence from an
mRNA template
•Amino acid – basic
building block of a
protein
Translation
•Codon – triplet of nucleotides found in the mRNA that
code for an amino acid

•Start codon: •Stop codons:

•AUG - methionine •UAA
•UAG
•UGA
•ORF – open reading frame
– start codon + intervening sequence + stop codon
 Amino
Polypeptide acids

tRNA with
amino acid
attached
Ribosome

tRNA

Anticodon

5 Codons 3
mRNA
 Mutations
Occurs as when the original sequence of a
gene is changed

Types
1. Point mutation
- Caused by base substitution
- May or may not alter function of protein
2. Frameshift mutation
- results from insertion or deletion of one or
more bases.
- results in a complete loss of function