M1 - Lesson 1:Introduction to Genetics: ● During reproduction, DNA is
Its Origin and Definition replicated and passed from a parent
to their offspring.
● Genetics is one of the major fields in
Biology. ● This inheritance of genetic material
by offspring influences the
● It is about genes, the so-called appearance and behavior of the
"blueprint" of life. offspring.
● The genes determine the traits ● The environment that an organism
(variations) that each person has lives in can also influence how
and each person has a unique set of genes are expressed.
genes.
● Genetics studies how traits are
passed from parents to their
offspring, that is from one generation
to the next.
● The passing of traits from parents to
offspring is known as heredity,
hence, genetics is also the study of
heredity.
● Genetics is built around molecules
called DNA.
● Genes are segments of DNA,
therefore, DNA molecules hold all
the genetic information for an
organism.
● It provides cells with the information
they need to perform tasks that allow
an organism to grow, survive and
reproduce.
● A gene tells a cell to perform one
specific task.
● Heredity is what makes children look
like their parents.
M1 - Lesson 2:Types and Causes of VARIATIONS
Variation
● PHENOTYPE – various observable
● “Genetikos” = genitive/generative features by which we recognize the
● “Genesis” = origin” organism
● “Genea” = “genes”
= race or generation ● GENOTYPE – type of genes or
● Gen= to produce, to become, or to hereditary material in the organism
grow into something
● PHENOCOPIES – environmental
alterations of phenotype
What is Genetics?
Ex. Straightening of curly hair
● It is the study of genes and how they
are transmitted from parents to
offspring (Heredity)
TYPES OF VARIATIONS
● Explains one’s origin or ancestry
MORPHOLOGICAL or STRUCTURAL
● “How does one become what he is
like?” 1.Physical traits or gross anatomical
features
Variations: Ex:
shape of the face, ears, eyes color of the
● Individuals of the same species may eyes, hair,
have characteristics common to all
of them (Species characteristics = 2. Cellular, Subcellular and Molecular traits
denote common origin), and yet they
may differ from one another Ex:
(Individual characteristics) ● Kind of hemoglobin in the RBC
● Kind of glycoproteins on the cell
● The basic quality of living organisms membrane
● Kind of DNA
● Similarities (Species Characteristics)
PHYSIOLOGICAL or FUNCTIONAL
● Differences (Individual
Characteristics) Biochemical and biophysical processes
● Provides the raw materials for Ex:
adaptation 1. inability to absorb glucose
2. inability to distinguish colors
3. failure to perform photosynthesis
4. inability to synthesize certain amino acid
BEHAVIORAL Other TYPES OF VARIATIONS
● The combined structural and CONTINUOUS VARIATION:
physiological traits
- when the characteristic varies in small
● Pattern of reactions to its amounts between individuals
environment - height
- weight
Ex. IQ
Mental retardation DISCONTINUOUS VARIATION
Tolerance level
- when there are no one in-between
SEXUAL Ex. Tongue-rolling
Sex
● The most important phenotypic
characteristics of an organism CAUSES OF VARIATION
● Capacity for reproduction together 1. Genes (Inherited)
with the features associated with it - sex determination
- mental retardation
- infant deformities
TYPES OF SEXUAL VARIATIONS 2. Environment (Acquired)
- physical deformities
Primary Sexual Traits – differences in - obesity
external genitalia and gonads
Secondary Sexual Traits – non-sexual but
related to mating and rearing of youngs
-developed breast in human female
-smaller body of male frogs
M1 - Lesson 3: Understanding the Other 3. MOLECULAR GENETICS
Fields of Genetics ● investigate in detail the nature of
genetic material, it’s structure, mode
Fields of Genetics of replication and how it acts to
produce the phenotype
1. TRANSMISSION GENETICS /
CLASSICAL GENETICS – deals with DNA – genetic material
heredity and variation
4. POPULATION GENETICS
Methods: ● genetic structure of a population
● Planned Experimental/Cross ● patterns of genetic variation in
Breeding populations
● Pedigree Analysis ● changes in genetic structure
through time
Method: Planned Experimental Breeding
5. APPLIED GENETICS
Mendel’s Experiments
● practical applications of Genetics
● Garden pea (Pisum sativum) is ideal
for genetic study A. Animal husbandry & plant breeding
● to produce high yielding varieties of
● Chose true-breeding/pure breeding food crops like disease-resistant
which is between homozygous plants and varieties of cows and pigs
garden peas for his experiments
B. Epidemiological Genetics
● Mendel first worked with ● for better therapy, management and
single-character crosses prevention of recurrence of inherited
(Monohybrid cross). disease
2. CYTOGENETICS C. Eugenics
● choice of partners for marriage and
● study the genes in the cell have an estimate of the likelihood of
particularly in the chromosome appearance of desirable trait
● provide the chromosomal basis of D. Medicolegal Genetics
sex determination ● to solve legal problems like dispute
in paternity and exchange of babies
● explain the distribution of boys and in the hospital nursery
girls in the family
E. Genetic Counseling
Karyotyping = karyogram ● for deciding abortion and planning
● the process of pairing and ordering responsible parenthood through
all the chromosomes of an organism amniocentesis
F. Genetic Engineering
● repair of defective genes the
process of manually adding new
DNA to an organism
Ex: GMO (transgenic) organisms
- plants with resistance to some insects
- plants that can tolerate herbicides
- crops with modified oil content.
HUMAN GENOME PROJECT
G. Recombinant DNA Technique and
Gene Cloning
● DNA fragments are cut out of their
normal position in the chromosome
using restriction enzymes and then
inserted into other chromosomes or
DNA molecules using enzymes
M1 - Lesson 4: The History of Genetics
Era of Awakening:
● As far back as 6,000 years ago,
records of pedigrees of some 17th Century : The Theory of Preformation
domesticated animals and some
crop plants were kept. Jan Swammerdam – Dutch scientist:
● Examples of domesticated animals: ● He theorized that sex cells contain a
horses, dogs, camels, sheeps, and others complete miniatures of an adult,
perfect in every form, called a
Prehistoric: “homunculus”
The Greek Influence. 400 B.C. William Harvey and Epigenesis
Hippocrates ● An organism is derived from
substances present in the egg that
● The Hippocratic treatise : On the differentiate into adult structure
Seed. during embryonic development
● Male seed is thicker or more solid 18th Century
while the female is more fluid.
Casper Wolff
The Greek Influence. 500 B.C.
● German scientist who disapproved
Aristotle & Pythagoras of the Theory of Preformation.
“Fluids & Vapors” Theory
● He offered experimental evidence
Aristotle: that no preformed embryo existed in
● The vital heat fluid–SEMEN the egg of the chicken.
Semen was regarded as highly purified
blood. 18th Century
The Particulate Inheritance Theory
Pythagoras:
● Vapors from various organs unite to Pierre Louis Maupertuis
form individuals. ● He proposed that minute particles,
one from each body part, united in
sexual reproduction to form a new
individual.
19th Century Gregor Mendel: “The Father” (1866)
The Theory of Pangenesis ● The father of modern genetics
Charles Darwin: 1859 ● Used statistics to explain genetic
events
● He noted that each part of the body
produced minute particles Four Postulates:
“gemmules”or “pangenes” which ● Unit Factors in Pairs
were contained in the blood of the ● Dominance/ Recessiveness
entire body but eventually ● Segregation
concentrated in the reproductive ● Independent Assortment
organs.
● The individual represents “blending” Friedrich Miescher: 1869
of both parents and acquired
characters would be inherited, too. ● DNA (first called "nuclein") is
identified by Friedrich Miescher as
August Weismann an acidic substance found in cell
nuclei. The significance of DNA is
● German biologist not appreciated for over 70 years.
● He disapproved the Theory of William Bateson: 1905
Pangenesis
● The word "genetics" was coined by
● His experiment was the William Bateson.
22nd generation of mice where the tails
of the parents were cut. Need to prove Quantitative traits in broad beans
The absence of tails to offspring. experiment. 1903-1909
Findings: First experiments on quantitative traits in
● The new lot of offspring consisted of broad beans by Wilhelm Johanssen and in
tails. wheat by Herman Nilsson-Ehle
Thomas Morgan and the white eyes
● genes are carried on chromosomes
and the mechanical basis for
heredity.
● conducted the experiments on the
Drosophila (fruit flies)
● The phenomenon of crossing over.
Eugenics Movement
1910's-30's
Karl Landsteiner and the ABO Blood types
The eugenics movement is popular, fueling
racist sentiment and leading to involuntary
sterilization laws.
Genetic Recombination
● 1928 Some components of
heat-killed virulent bacteria can 1931 - Genetic recombination is caused by
"transform" a non-virulent strain to a physical exchange of chromosomal
become virulent, as shown by Fred pieces, as shown in corn by Harriet
Griffith. This sets the stage for work Creighton and Barbara Mcclintock.
done in 1944.
One gene:One protein
1941 - One gene encodes one protein, as
described by George Beadle and Edward
Tatum
Erwin Chargaff. 1950
● In DNA, there are equal amounts of
A and T, and equal amounts of C
and G, as shown by Erwin Chargaff.
The Avery – MacCleod – Mc Carthy
Experiment. ● However, the A+T to C+G ratio can
differ between organisms.
Hershey and Chase: The Blender Quest for the Genomes:
Experiment
Challenge for Modern Genetics
1952 DNA is the molecule that mediates
heredity, as shown in bacteriophage 1990's Genome projects are begun. The
labeling experiments by Alfred Hershey and yeast genome is complete in 1996, and the
Martha Chase. C. elegans genome is done in 1998.
DNA is Double Helix. 1953 1990's DNA microarrays are invented by
Pat Brown and colleagues.
1953 - DNA is in the shape of a double helix
with antiparallel nucleotide chains and 1990's DNA fingerprinting, gene therapy,
specific base pairing. This was deduced by and genetically modified foods come onto
Watson and Crick, who used Rosalind the scene.
Franklin's data provided by Maurice Wilkins
1995 Automated sequencing technology
DNA is semi - conservative allows genome projects to accelerate.
1958 - DNA replication is 1996-7 The first cloning of a mammal (Dolly
semi-conservative, as shown by Meselson the sheep) is performed by Ian Wilmut and
and Stahl using equilibrium density gradient colleagues, from the Roslin institute in
centrifugation. Scotland.
Restriction Enzyme 2000 The Drosophila genome is completed.
The Arabidopsis genome is completed. The
1970 The first restriction enzyme was human genome is reported to be completed.
purified by Hamilton Smith.
2001 The sequence of the human genome
Recombinant DNA Technology is released, and the "post-genomic era"
officially begins.
1972-73 Recombinant DNA is first
constructed by Cohen and Boyer 2009 Controversies continue over human
and animal cloning, research on stem cells,
DNA Sequencing Technology and genetic modification of crops.
1977 - DNA sequencing technology is
developed by Fred Sanger.
Module 2: The Ultrastructure of the Cell Nucleus
● contains DNA or genetic material
● Cells are the smallest living units of DNA
an organism. ● dictates what the cell is going to do
and how it's going to do it.
All cells have three things in
common: Chromatin
● the tangled, spread out form of DNA
● Cell membrane found inside the nuclear membrane.
- which separates the inside the cell from its
environment When a cell is ready to divide
DNA condenses into structures known as
● Cytoplasm chromosomes.
- which is a jelly-like fluid,
The nucleus also contains a nucleolus.
● DNA
- which is the cell's genetic material. Nucleolus
● which is a structure where
Two broad categories of cells ribosomes are made.
Eukaryotic cells After ribosomes leave the nucleus
● They have organelles they will have the important job of
● More advanced "synthesizing", or making, proteins.
● Complex cells
● Found in Animals and Plants Outside the nucleus the ribosomes and
the rest of the organelles
Prokaryotic cells float around in cytoplasm,
● They don't have a nucleus or
membrane enclosed organelles. Cytoplasm
● They do have genetic material but ● Jelly-like substance
it's not contained within a nucleus. ● Ribosomes may wander freely within
● One celled, or unicellular organisms, the cytoplasm or attach to the endoplasmic
such as bacteria. reticulum, sometimes abbreviated as ER.
Organelle There are two types of Endoplasmic
● Means "little organ." Reticulum:
● Specialized parts of a cell that have
unique jobs to perform. ● Rough ER has ribosomes attached
to it
● Smooth ER doesn't have ribosomes
attached to it
Endoplasmic Reticulum
● A membrane enclosed passageway Cytoskeleton
for transporting materials such as ● how cell maintains its shape
the proteins synthesized by the thread-like microfilaments which are
ribosomes. made of protein and microtubules
Proteins and other materials Microtubules
emerge from the endoplasmic reticulum ● Thin hollow tubes
in small vesicles where the Golgi apparatus,
sometimes called the Golgi body receive
them. Plant cell
As proteins move through the Golgi body Central Vacuole
they're customized into forms that the cell ● stores water.
can use.
Photoautotrophic
Golgi body ● They capture sunlight for energy
● Folds the proteins into usable have cells with an organelle called a
shapes or adding other materials on chloroplast.
to them such as lipids or
carbohydrates. Chloroplast
● Where photosynthesis happens
Vacuoles
● sac-like structures that store It's green because it has a green
different materials. pigment called chlorophyll.
Plant cells also have a cell wall outside of
Lysosomes their cell membranes that shape, support,
● Garbage collectors that take in and protect the plant cell.
damaged or worn out cell parts.
● They are filled with enzymes that Animal cells never have a cell wall
break down this cellular debris.
Mitochondria Difference of Plant cell and Animal Cell
● the powerhouse for both animal and
plant cells. ● Both animal and plant cells have
mitochondria, but only plant cells
During a process called cellular respiration have chloroplasts.
the mitochondria make ATP molecules Plants don’t get their sugar from eating
that provide the energy for all the food, so they need to make sugar from
cell activities. sunlight. This process (photosynthesis)
takes place in the chloroplast. Once the
Cells that need more energy sugar is made, it is then broken down by the
have more mitochondria. mitochondria to make energy for the cell.
Because animals get sugar from the food Cell Cycle
they eat, they do not need chloroplasts: just
mitochondria. Cell Cycle - the lifespan of a eukaryotic
somatic cell.
● Both plant and animal cells have
vacuoles. ● Describes the sequence of cell
A plant cell contains a large, singular growth and division.
vacuole that is used for storage and
maintaining the shape of the cell. In ● A cell spends most of its life in a
contrast, animal cells have many, smaller state called interphase.
vacuoles.
Somatic Cell - any cell in the body of an
● Plant cells have a cell wall, as well organism except for sex cells and egg cells.
as a cell membrane.
In plants, the cell wall surrounds the cell
membrane. This gives the plant cell its Interphase (3 phases)
unique rectangular shape. Animal cells ● G1 Phase
simply have a cell membrane, but no cell ● S Phase
wall. ● G2 Phase
Interphase is followed by cell division (1
In Humans phase)
Cilia ● M Phase
● These are microscopic hair-like
projections that can move in waves.
G1 Phase
Flagella ● sometimes called growth one or gap
● Some bacteria have flagella. phase one.
● A flagellum is like a little tail that ● busy growing, most cell growth and
can help a cell move or propel itself. function happen
● The only human cell that has a ● prepares the cells fresh out of
flagellum is a sperm cell. mitosis for another round of DNA
replication by making the necessary
proteins and organelles
note: some cells such as muscle and
nerve cells exit the cell cycle after g1
because they do not divide again
S Phase (Synthesis) M phase
● after it grows to the point where it's
no longer able to function well and ● M phase represents cell division
needs to divide. ● The fourth and final phase of the cell
cycle
Synthesis - means to make because a copy
of dna is being made during this phase I. Mitosis (nucleus divides)
II. Cytokinesis (cytoplasm divides)
● The cell enters the s phase when it
needs to divide in this phase the cell I. Mitosis is further broken down into four
replicates its dna replication just phases:
means the cell makes a copy of its
dna. ● Prophase
● Metaphase
G2 Phase ● Anaphase
● the shortest and last part of ● Telophase
interphase
● also known as growth 2 or gap Prophase
phase 2 ● chromatin condenses into
chromosomes
● the cell undergoes further ● spindle fibers form and the nucleolus
preparations for cell division and nuclear membrane disappear
now that interphase is over the cell is Metaphase
ready for cell division which happens in ● spindle fibers align the
the m phase. chromosomes along the cell equator
M Phase (Mitosis) Anaphase
● the spindle fibers separate sister
● has two events the main one chromatids into two separate groups
is mitosis and followed by cytokinesis of chromosomes pulling them toward
the poles
Mitosis - which is division of the cell's
nucleus Telophase
● the nucleolus and nuclear
Cytokinesis - a division of the cytoplasm membrane reform
● the chromosomes disperse into
At the end of M phase you have two chromatin
daughter cells identical to each other and
identical to the original cell.
Note: m phase of the cell cycle always
results in two daughter cells both of these
daughter cells are identical to each other
and identical to the original cell that
underwent mitosis
Diploid vs Haploid
Meiosis (Reduction Division)
● Begins with diploid cells
● Only produces gametes: genetically
different haploid cells
● Has two cell division stages:
○ Meiosis I - produces two
haploid cells each containing
one chromosome from the
homologous pairs
○ Meiosis II - separates sister
chromatids to produce four
haploid gametes
Prophase I of Meiosis I
Cell cycle checkpoints and regulation
● Synapsis - pairing of homologous
chromosomes The cell cycle has three states:
● Quiescent
● Tetrad - 4 sister chromatids of paired ● Interphase
homologous chromosomes ● Mitosis
● "Crossing over" - recombination of The five phases:
alleles in homologous chromosomes ● G0
● G1
● Result of "crossing over" - genetics ● S
variety in gametes ● G2
● M
● All gametes are haploid
Quiescent state
● also known as a senescence state
● comprises of the G0 phase
examples: neurons cardiac, muscle and
RBC's
Interphase State
● G1 phase
● S phase
● G2 phase
Mitosis State
● M phase
● Prophase
● Metaphase
● Anaphase
● Telophase
Three major cell cycle checkpoints
● End of G1
● End of G2
● During metaphase of M phase
retinoblastoma protein and
Progression through expression of e to F.
checkpoints is regulated by
The expression of e to F then leads to the
● Cycling's expression of transcription genes and
● Cyclin dependent kinases formation of cyclin e cdk2.
● Tumor suppressors
Therefore the cell is pushed into the S
During the g1 phase, cell phase
cycle progression is controlled by a
variety of different cellular mechanisms Cell cycle regulation in S and M phase
such as
Cyclin a cdk2 is required for DNA synthesis
● Tumor suppressors
● Transcription genes - genes that Cyclin a cdk1 and cyclin b cdk1 promote the
code for transcription factors events of mitosis towards the end of mitosis
● Proteins - detect DNA damage
● Enzymes - allow the cell to progress The anaphase promoting complex causes
to the S phase ubiquitination and destruction of cyclin
● Signaling molecules - activate those a cdk1 and cyclin b cdk1 that leads to
enzymes termination of m phase with anaphase
telophase and cytokinesis.
The gene e to F regulates expression of
The most radiosensitive phases are the g2
● transcription genes phase and mitosis.
● (CDK2) cyclin dependent kinase two
● (CE) cyclin e The least radiosensitive phase is the latter
● (CA) cyclin a part of the S phase.
If there is significant DNA damage p53
stimulates production of p21.
p21 binds and inhibits all cyclin-cdk
complexes which leads to arrest of cell
cycle until the DNA damage is repaired and
p21 levels drop.
The tumor suppressor: Retinoblastoma
protein
● Inhibits e to F expression cyclin D
cdk4 and cyclin d c d k6 complexes
phosphorylate Retinoblastoma
protein that leads to inactivation of
(From PPT)
Fimbriae and Pili
Structures found in a typical Bacteria ● short thin, hollow appendages
Cell attached to the cell wall
Cell Wall Fimbriae - attachment to surfaces
● two types, gram-positive and
gram-negative Pili - conjugation
● surrounds the plasma membrane Flagella
and protects cell from environmental ● long thin, hollow structure consisting
stress of a filament hook and basal body
Cell Membrane ● flagella rotate to push the cell
● selectively permeable, with
phospholipid bilayer and protein Axial Filaments
● similar to flagella but wrapped
● surrounds cytoplasm and contains around the cell, associated with
enzymes involved in metabolic spirochetes
reactions
● provides motility to spirochetes
Cytoplasm
● gelatinous matrix located inside the Plasmids
cell membrane ● small, circular, extrachromosomal
DNA molecules
● made of water, organic and
inorganic molecules ● found in some cells in addition to the
main chromosome
Ribosomes
● 70s, contain rRNA and protein. Inclusions
● reserve deposits of various materials
Nucleoid found in the cytoplasm
● contains the bacterial chromosomes
● examples include sulfur granules
● area in the cytoplasm where the and metachromatic granules
main chromosomes is located
Endospores
Glycocalyx (capsule or slime layer) ● the dormant resistant stage of some
● gelatinous polysaccharide bacteria
polypeptide layer
● assist survival of adverse conditions
● surround the cell wall may protect
against phagocytosis aids in
adherence to surface
Glyoxysome No No Commo
Structure Prokary Animal Plant s n
ote Cell Cell
Vacuoles No Small or Usually
none one
Plasma Yes Yes Yes large
Membrane vacuole
in
Cell Wall Yes No Yes mature
cell
Nucleus No True True
nuclear nucleus, nucleus, Mitochondri No Yes Yes
membra consistin consistin a
ne or g of g of
nucleoli nuclear nuclear Plastids No No In many
membra membra cell
ne and ne and types
nucleoli nucleoli (include
chloropl
ast in
Chromosom One Multiple, Multiple, photosy
es continuo consistin consistin nthetic
us DNA g of g of cells)
molecul DNA DNA
e and and Cilia or Simple Complex Present
much much Flagella flagella ("9+2" on
protein protein arrange sperm of
ment) some
plants
Ribosomes Yes Yes, Yes,
(smaller) 80S 80S Centrioles No Yes No
, 70S
Microtubule No Yes Yes
s
Endoplasmi No Usually Usually
c Reticulum
Golgi No Yes Yes
Apparatus
Lysosomes No Often Some
vacuoles
function
as
lysosom
es
Peroxisome No Often Often
s
Gametogenesis
● Involves growth, development,
differentiation and maturation of
reproductive cells.
Spermatogenesis
● It refers to growth, developmental
and maturation of the sperm.
● Takes place within testis.
Oogenesis
● It refers to growth, development and
maturation of the egg.
● Takes place within the ovary.