G

E GENETICS
N
E
T
I
C
S
G INTRODUCTION
E  GENETICS
-science of heredity and variation
N -”gen” – to become or grow into
E something
-coined by William Bateson-1906
T -GENE as the principal determinants
I of life processes

C
S
G INTRODUCTION
E  HEREDITY – transmission of traits
from parents to offspring
N -e.g. similarity of parents to
E offspring imprinted in DNA-genes

T  VARIATION – differences between

I parents and offspring and among
individuals
C -e.g. height, weight, I.Q.
S
 FACTORS DICTATED BY GENES
G
E 1. Cell structure
2. Cell function
N 3. Organization of cells into tissues
E and organ
4. Organisms appearance
T (phenotype)
I 5. Reproduction
6. Adaptability
C 7. Behavior
S
G LEVELS OF ORGANIZATION

E  CHEMICAL LEVEL -
includes all chemical
N substances necessary
for life processes
E  CELLULAR LEVEL -

T cells are the basic

structural and functional
I units of the human body
 TISSUE LEVEL - a
C group of cells that
perform a specific
S function
G LEVELS OF ORGANIZATION

E  ORGAN LEVEL - consists of 2 or

more tissues that perform a
N particular function

E  SYSTEM LEVEL - an association of

T organs that have a common
function
I -the major systems in the human
C body include digestive, nervous,
endocrine, circulatory, respiratory,
S urinary, and reproductive.
G THE CELL
E • Two types of cells
a.Prokaryotic-bacteria, have no
N nucleus
E animals, with nucleus
b.Eukaryotic-human body, plants,

T – So, a human cell is enclosed by a

cell, or plasma membrane.
I – Enclosed by that membrane is the
C cytoplasm (with associated
organelles) plus a nucleus.
S
G THE CELL
E
N
E
T
I
C
S
G THE PLASMA MEMBRANE
E
N
E
T
I
C
S
G FUNCTION:
E PLASMA MEMBRANE
N  Supporting and retaining the
cytoplasm
E  selective barrier
 Transport
T  Communication (via receptors)
I  Recognition

C
S
G COMMUNICATION VIA
E RECEPTOR
N
Communication via receptors:
E
T
I
C
S
G RECOGNITION
E
N
E
T
I
C
S
G CHROMOSOME
E
N
E
T
I
C
S
 TYPES OF CHROMOSOMES
G BASED ON THE LOCATION OF
E THE CENTROMERE
N 1. Metacentric – the centromere is
E median
2. Submetacentric – centromere is
T submedian
3. Acrocentric – centromere is
I subterminal
C 4. Telocentric – centromere is
terminal
S
G CELL CYCLE
E
N
E
T
I
C
S
G CELL CYCLE
E Cell Cycle - sequence of regular and
repetitive physical and chemical
N processes taking place within the cell
Two PHASES of cell cycle
E 1.Interphase (non dividing phase)
T -process in which a cell may
double its entire content in
I preparation for cell division
C 2.M phase (dividing)
-where the cell contents are
S distributed into daughter cells
B CELL DIVISION
I
O
Meiosis ► the genetic & chromosome
T
composition of the cells is reduced to
E
half of its usual number (reduction
C division)
H
N
O Phases:
L Interphase
O Meiosis I
G Meiosis II
Y
B PHASES IN MITOSIS
I
O INTERPHASE (G1 phase)
T ►Also called a non-mitotic phase
E ►Longest part (9-12 hours)
C ►Cellular growth – increases in
H volume by: imbibing water &
N nutrients, & building new cytoplasmic
O organelles
L ►Proteins necessary for DNA
O synthesis during the S phase is
G synthesized
Y
B PHASES IN MITOSIS
I
O INTERPHASE (S phase)
T ►The phase where DNA synthesis
E occurs
C ►Sister chromatid cohesion – old &
H newly synthesized sister DNA are held
N together through the action of a
O molecule called cohesin
L ►Cohesin molecules encircle the two
O copies of the recently replicated DNA
making it intact and chromosome
G
condensation occur
Y
B PHASES IN MITOSIS
I
O INTERPHASE (G2 phase)
T ► The phase where RNA & protein
E synthesis necessary for chromosome
C separation & spindle fiber formation
H occurs
N
O
L
O
G
Y
B PHASES IN MITOSIS
I
O Prophase
T ► DNA condenses into a highly
E compact & visible chromosomes
C ► Centrosome (microtubule organizing
H center) divides into centrioles, each
N will migrate at opposite poles on the
O cell plate.
L ► At end of prophase, nuclear
O envelope begins to disintegrate
G
Y
B
I
O
T
E
C
H
N
O
L
O
G
Y
B PHASES IN MITOSIS
I
O Metaphase
T ► Chromosomes line up on the
E equatorial plate
C ► Mitotic spindle formation is
H complete & kinetochore of sister
N chromatids attach (bivalent
O attachment) to the microtubules
L
O
G
Y
B
I
O
T
E
C
H
N
O
L
O
G
Y
B PHASES IN MITOSIS
I
O Anaphase
T ► Centromeres become functionally
E double & chromatids begins to move
C toward the opposite poles
H ► Chromosome segregation is
N triggered (due to proteolytic
O destruction of cohesin molecules)
L ► Chromosome poleward movement
O is due to depolymerization of spindle
G fibers
Y
B
I
O
T
E
C
H
N
O
L
O
G
Y
B PHASES IN MITOSIS
I
O Telophase
T ► Nuclear envelope reforms around
E each set of segregated chromosomes
C ► Chromosome unwind (due to
H proteolytic destruction of
N condensin molecules)
O ► cytokinesis – end of cell division
L -Cleavage furrow in animals
O -Cell plate formation in plant cells
G
Y
B
I
O
T
E
C
H
N
O
L
O
G
Y
B CONSEQUENCE OF MITOSIS
I
O ► It produces two daughter cells
T whose chromosomal compositions are
E equally transmitted & identical to each
C other & to the parent cell
H
N ► The gene retains its individuality
O regardless of the nature of its allele
L
O
G
Y
B MEIOSIS
I
O ► cell division specialized to produce
T cells that have half the number of
E chromosomes than the parental cell
C
H
N
O
L
O
G
Y
B PHASES OF MEIOSIS
I
O ► Interphase (G1, S, G2)
T
E ► Meiosis I - Prophase 1(Leptotene,
C Zygotene, Pachytene, Diplotene,
H Diakinesis), Metaphase 1, Anaphase
N 1, Telophase 1
O
L ► Meiosis II or Mitosis - Prophase 2,
O Metaphase 2, Anaphase 2, Telophase
G 2
Y
B PHASES OF MEIOSIS
I
O Prophase 1
T Leptotene Stage
E ► Individual chromosomes begin to
C condense into long strands within the
H nucleus
N Zygotene Stage
O ► Chromosomes line up & pair with
L homologous chromosomes (synapsis)
O in a side-by-side fashion
G ► Synaptinemal complex form
between two homologous chromosomes
Y
B PHASES OF MEIOSIS
I
O Pachytene Stage
T ► Crossing-over/Chromosomal crossover
E ► Crossing-over takes place where
C recombination nodules (chiasmata)
have formed
H
N ►Crossing over - an
O exchange of genetic
L material between
O sister chromatids
G ►Results in greater
Y variation
B PHASES OF MEIOSIS
I
O Diplotene Stage
T ► Synaptonemal complex degrades &
E homologous chromosomes slightly
C separate from one another
H ► Each bivalent still remain tightly
bound at chiasmata
N
O Diakinesis
L ► Bivalents are evenly distributed in the
nucleus
O
G ► Nucleolus begins to disintegrate and
spindle fibers begin to form
Y
B PHASES OF MEIOSIS
I
O Metaphase 1
T ►Bivalents move to the metaphase
E plate & oriented in a way that
C centromeres are positioned on both
H sides
N ►Spindle fiber is complete & fully
O attached to centromeres of the
L bivalent chromosomes
O ►Homologous chromosomes are
G attached to opposite poles.
Y
B PHASES OF MEIOSIS
I
O Anaphase 1
T ►Homologous chromosomes
E separate
C ► Depolarization of spindle fiber
H pulls the chromosomes to opposite
N poles
O ► Homologous chromosomes are
L attached to opposite poles
O
G
Y
B PHASES OF MEIOSIS
I
O Telophase 1
T ►Chromosome arrives at poles &
E unwinds
C ► Nuclear membranes are
H assembled
N ► A brief transitional stage called
O interkinesis occurs before the cell
L proceeds to the next stage
O
G Meiosis II or Mitosis
Y
B CONSEQUENCE OF MEIOSIS
I
O ► Results in genetic diversity of
T offspring as a result of crossing over
E and independent assortment of
C chromosomes
H
N
O
L
O
G
Y
G CELL DIVISION
E CRITERIA MITOSIS MEIOSIS
Cell type Somatic - for Germ cells
N growth and/or (gametes) –
development sex formation
E # of cell 1 (mitosis) 2 (meiosis I
division and II)
T # of daughter 2 4 (MI =2; MII

I
cells =4)
Chromosome 2n n

C # of daughter
cell

S
G CELL DIVISION
E CRITERIA MITOSIS MEIOSIS
DNA content 4C 4C
N of cell at the
start of cell
E division
DNA content 2C 1C
T of daughter
cell
I Presence of absent Present
synapsis (zygotene)
C Presence of absent Present

S crossover (pachytene)
G CELL DIVISION
E CRITERIA MITOSIS MEIOSIS
Stage of Anaphase Anaphase II
N centromere
division
E Genetic -Parent and -Genetic
consequences daughter recombination
T nuclei are or variability is
genetically produced due
I identical to crossover
-parental -parental
C chromosome # chromosome
is maintained # is reduced
S (2n) (n)
G CELL DIVISION
E CRITERIA MITOSIS MEIOSIS

N genetic
significance
-for genetic
continuity
-produces
haploid

E of the
process
-repair or
replacement of
gametes that
will fuse
T damaged or
dead cell
during
fertilization to
I -cell division
involved in
produce
diploid zygote
C asexual
reproduction
S of bacteria
G MITOSIS
E
N
E
T
I
C
S
G MEIOSIS
E
N
E
T
I
C
S
G STAGE Chrom. # GC

E G1
S-Phase
2n
2n
=
=
4
4
2C
4C
N G2 2n = 4 4C
Metaphase 2n = 4 4C
E Anaphase/ 2n = 4 4C
T pole
Anaphase/ 4n = 8 4C
I cell
Telophase 2n = 4 2C
C after
cytokinesis
S
G QUIZ
E In swamp type buffalo, the
somatic cells are diploid with 48
N chromosomes. How many of each
of the following is present in each
E cell at the stage of mitosis and
T meiosis indicated below?

I Fill-in the tables provided for with

C the appropriate answers.
S
G STAGE per cell

E Kinetochore at prophase
Chromosome at anaphase
48
96
N Chromatids at metaphase I 0
Chromosomes at telophase 48
E after cytokinesis

T Centromeres at anaphase
Chromosomes at telophase II
96
24
I after cytokinesis
Centromeres at anaphase I 48
C Chromatids at metaphase 0
S
G SPERMATOGENESIS
E AND OOGENESIS
N
E
T
I
C
S
G G RA T IO N
GENE S E
E R A CT IO N
AN D I N T E
N
E
T
I
C
S
G GENE SEGRAGATION
E Genotype – the genetic constitution
that the individual inherits
N
Phenotype – appearance of the
E organism – its morphology,
physiology and behavior
T
I Homozygote - when an organism
possesses two identical alleles
C
Heterozygote - when an organism
S possesses different alleles
G MENDEL’S LAW
E Law of independent segregation
– states that the alleles of a gene
N pairs separate completely and clearly
E from each other during meiosis

T Law of independent assortment –

states that the alleles of different
I gene pairs separate independently
C from each other and randomly
combine during meiosis
S
G LAW OF INDEPENDENT
SEGREGATION
E
P RR–red coat x rr–white coat
N
E gametes R r
T
I F1 Rr
C F2–inter se mating Rr x Rr
S
G LAW OF INDEPENDENT
SEGREGATION
E
STEP 1 – TEGI (Punette square
N or Dichotomous branching)
E Gametes R r
T R RR Rr
I r Rr rr

C Genotypic ratio = 1RR: 2Rr: 1rr

Phenotypic ratio = 3R_(red):1rr(white)
S
G LAW OF INDEPENDENT
ASSORTMENT
E P1 (RRYY) cross to P2(rryy)
N Gametes are RY(P1) and ry(P2)
F1 RrYy
E F2 Observation
T -315 Red coat, brown eyes
-108 Red coat, black eyes
I -101 white coat, brown eyes
-32 white coat, black eyes
C STEP 1 – TEGI
S STEP 2 – calculating the probabilities
G PROBABILITIES
E Red coat =423/556=0.75 or 3/4

N White coat =133/556=0.25 or 1/4

E ¾ brown eyes
T ¾ red coat
¼ black eyes
I
¾ brown eyes
C ¼ white coat
S ¼ black eyes
G PROBABILITIES
E ¾ x ¾ = 9/16 Red coat, brown eyes

N ¾ x ¼ = 3/16 Red coat, black eyes

E ¼ x ¾ = 3/16 white coat, brown eyes

T ¼ x ¼ = 1/16 white coat, black eyes
I The PHENOTYPIC RATIO is 9:3:3:1
C Chi-square test (X2c≤X2tab) on the
data showed GOOD FIT to the
S expected ratio of 9:3:3:1
G DICHOTOMOUS BRANCHING
E 1 YY 1RRYY

N 1RR 2 Yy 2RRYy

E 1 yy 1RRyy
T
1 YY 1RrYY
I
2 Rr 2 Yy
C 1RrYy

S 1 yy 1Rryy
G DICHOTOMOUS BRANCHING
E
1 YY 1rrYY
N
1rr 2 Yy 2rrYy
E
T 1 yy 1rryy

I The GENOTYPIC RATIO is

C 1:2:1:2:4:2:1:2:1

S
G KINDS OF PROBABILITIES
E Sum rule of probabilities
P(m or f) = Pm + Pf
N
Product rule of probabilities
E P(m and f) = Pm x Pf
T Conditional probability
I P(x/y) = P(x) / P(y)

C Binomial probability
S P= (n!/w!x!) pwqx
G GENE INTERACTION
E 1.Allelic interaction
a. Complete dominance (3:1)
N -heterozygotes are phenotypically
identical to homozygous dominant
E -seed coat color in garden peas
T b. Overdominance (1:2:1)
-Heterozygotes exhibit a superior
I phenotypes compared to either
homozygous parents
C -Flourescent pigments in
S Drosophila melanogaster
G GENE INTERACTION
E 1.Allelic interaction (cont.)
c. Incomplete dominance (1:2:1)
N -heterozygotes are phenotypically
intermediate between the two
E homozygous types
-flower color in four o’clock plant
T d. Codominance (1:2:1)
I -heterozygotes exhibits a mixture of
the phenotypic characters of both
C homozygotes instead os a single
intermediate expression
S -roan cost color in cattle
G GENE INTERACTION
E 1.Allelic interaction (cont.)
e. Lethal genes
N e.1.Dominant lethal(0:1)
-death of the affected individual
E (homo dominant or hetero) occurs
T after reproduction has taken place
e.2.Recessive lethal(3:0; 1:2:0)
I -effects of recessive genes
sufficiently drastic to kill the bearers
C of certain genotypes
S
G GENE INTERACTION
E 2.Non-allelic interaction

N a. Epistasis – an allele of a gene

masks the effect of the allele of the
E other gene
T a.1.Dominant epistasis (13:3)
-feather color in domestic
I fowl
C a.2.Recessive epistatis (9:3:4)
-mouse coat color
S
G GENE INTERACTION
E 2.Non-allelic interaction (cont.)
N a.3.Duplicate genes (15:1)
-seed capsules of
E shepherd’s purse
T a.4.Complementary genes
-sweet pea flower color
(9:7)

I
b.Novel phenotype (9:3:3:1)
C - comb shape in waterfowl
S
G
E
N
E CHEMICAL B A S IS O F
T H ER ED I T Y
I
C
S
G TERMINOLOGY
E Gene – hereditary units which are
actually fragments or portions of the
N deoxyribonucleic acid (DNA)
Allele – the alternative form of the
E gene
DNA - deoxyribonucleic acid which is
T considered as the genetic material of
I almost all living organism except for
some virus and bacteria
C RNA - ribonucleic acid which is
considered as the genetic material of
S almost all virus and bacteria
G TERMINOLOGY
Genotype – the genetic constitution
E that the individual inherits
N Phenotype – appearance of the
organism – its morphology, physiology
E and behavior (P = G+E+GE)
Homozygote - when an organism
T possesses two identical alleles(i.e.BB,
I bb)
Heterozygote - when an organism
C possesses different alleles (i.e.Bb, Cc)

S
G SCIENTIST BEHIND THE
E CONCEPT OF THE GENE

N
E
T
I
C
S
G Thomas Hunt Morgan (1910) and
E Calvin Bridges (1916) – association
between specific gene and specific
N chromosome

E Walter Sutton and Theodor Boveri

(1903) – Chromosome Theory of
T Inheritance (gene segregation and
I interaction)

C H.J. Muller (1922) – considered the

gene/DNA as the genetic material
S
G Frederick Griffith (1928) – first work
in transformation using the bacterium
E Diplococcus pneumoniae in mice (Type S
and type R)
N
R.A. Fisher (1930) – quantitative
E geneticist that described gene as a
T chemical molecule that could explain the
results of various breeding experiments
I
Oswald Avery, Colin MacLeod,
C Maclyn MacCarty (1944) – proved
griffith’s work In vitro, proving that DNA
S is the genetic material
G Zinder and Lederberg (1952) –
E first work in transduction using
Salmonella typhimurium
N
James D. Watson and Francis H.C.
E Crick (1953) – proposed the double
T helix structure of DNA

I Maurice Wilkins and Rosalind

Franklin (1953) – Elucidation of the
C DNA structure using X-ray diffraction
technique
S
 CHEMICAL COMPOSITION OF
G THE CHROMOSOME
E  Lipids
N Proteins
E  Histones or protamines (basic
proteins)
T  Non-histone chromosomal protein
(acidic proteins)
I
C Nucleic acid
 DNA (deoxyribonucleic acid)
S  RNA (Ribonucleic acid)
G WHAT IS DNA?
E  Genetic material for almost all
living organism except for some
N bacteria and viruses
A polymer composed of repeating
E units of nucleotide (polynucleotide)
T Double stranded molecule –
composed of two polynucleotide
I strands (double helical structure)
Specificity of base pairing (A-T, G-
C C)
Sugar is 2-deoxy D-ribose (oxygen
S in 2nd H-position is removed)
G CHEMICAL COMPOSITION OF DNA

E
N
E
T
I
NUCLEOTIDE
C
S POLYNUCLEOTIDE
G WHAT IS RNA?
E  Genetic material for some bacteria
and viruses
N Single stranded molecule –
composed of one polynucleotide
E strands
T Specificity of base pairing (A-U, G-
C)
I Sugar is D-ribose (oxygen in 2nd H-
position is not removed)
C
S
G FEATURES OF DNA
 storage of tremendous amount of
E genetic information
N Accurate duplication
E Accurate transfer of information
T
Stable molecular structure (H-bond,
I covalent bond, hydrophobic
C interaction)

S Dynamic
Minor grove
Allows protein to
make in contact with
the bases
Major grove

James Watson
Francis Crick
Rosalind Franklin
Maurice Wilkins
G DNA NITROGEN BASES
E
N
Purines
E
T
I
C Pyrimidines

S
G CENTRAL DOGMA
E REPLICATION
DNA
N
E TRANSCRIPTION

T (mRNA) RNA
I TRANSLATION
C
S PROTEIN
G DNA REPLICATION
E  process of FAITHFULLY
COPYING the DNA to produce two
N DNA molecules IDENTICAL to the
E PARENT DNA (DNA SYNTHESIS)

T  DNA molecules produced

 passed on to the daughter cells
I via the chromosomes during CELL
C DIVISION (Mitosis and
Meiosis)
S
G UNIVERSAL FEATURES
1) Semi-conservative Mode
E (1963 – JOHN CAIRNS)
N Parental DNA
E (double-stranded)

T
old strand
I
new strand
C
S identical
G UNIVERSAL FEATURES
E 2) Specifity of base pairing

N
E
T
I  reason why replication occur
in very accurate manner!
C
S
G UNIVERSAL FEATURES
E 3) DNA is synthesized in 5’ to 3’
direction
N
4) A primer is needed for
E initiation
T  RNA primer (3’OH end)
 DNA Pol III (formation of
I phosphodiester bond)

C 5) A complex process involving

S several enzymes and proteins
G PROCESSES
E 1)INITIATION
 Replicons – segments that have
N Ori and Termination sites
 Primosome – simultaneous
E priming and unwinding
 Helicase – helix unwinding protein
T  SSBP – attached to single stranded
I DNA to prevent the DNA from
reannealing
C  DNA gyrase or DNA topoisomerase
– relaxes the DNA strand during
S unwinding
G PROCESSES
E 1)INITIATION
 DNA polymerase III or DNA
N replicase – relaxes the DNA strand
during unwinding
E
T
I
C
S
G PROCESSES
E 2)ELONGATION (bidirectional)
 Leading – continuous
N  Lagging – discontinuous (okazaki
fragments)
E 3)TERMINATION
T  Terminator site

I
C
S
G SIGNIFICANCE OF REPLICATION

E 1) Faithfully copy a DNA to produce

two DNA molecules identical to each
N other and to the parent molecules
E 2) Transmission of biological
T information from a parent cell to its
daughter cells from generation to
I generation

C
S
G MECHANISMS OF HIGH
PRECISION OF REPLICATION
E 1) Specifity of base pairing
N 2) Proof reading activity of DNA
polymerase
E 3) Excision repair mechanisms
a. repair of thymine dimer
T -endonucleases (excision and
I filling)
b. N-glycosidase activity
C -hydrolyses the bond (damaged)
-recognized (alkalated/bases and
S produce an AP site)
G TRANSCRIPTION
E  synthesis of RNA from a DNA template
 mRNA – provides the template that
N contains nucleotide code for the amino
acid sequence of a protein. Three
E adjacent nucleotide in the mRNA
comprise a codon
T  tRNA – transfers amino acid from the
I cytoplasm to the ribosomes
rRNA – complexed with ribosomal
C proteins to form ribosomes – the protein
synthesizing organelles of the cell
S
G PROCESSES
1)INITIATION
E  RNA polymerase
N  Sigma factor

E 2)ELONGATION
 RNA polymerase (Codon-anticodon)
T  5’ to 3’ direction
I 3)TERMINATION
C  RNA polymerase reach the
termination point (stop
S transcription)
G TRANSLATION
 synthesis of protein and
E polypeptide from a RNA transcript
N
E
T
I
C
S
G PROCESSES
1)ACTIVATION OF AMINO ACIDS
E  amino-acyl synthetase + ATP
N 2)INITIATION
 IF1, IF3, IF2
E  30S subunits and 50S subunits
3)ELONGATION
T  EFTu, EFG
I  A site and P site
 Peptidyl tranferase
C 4)TERMINATION
 RF1, RF 2, RF3
S
G QUIZ
E 1)Give at least five(5) proteins
and enzymes needed in DNA
N replication and their function
E (5 points).
T 2)What will happen when ONE
I of the proteins and enzymes
needed in the DNA replication
C is NOT available (5 points).
S
G QUIZ
1) DNA Pol I – error correcting and
E proofreading (600-100/min)
N 2) DNA Pol III – main elongation
enzyme (9k-15k/min)
E 3)Helicase – unwinding of DNA
4)SSBP – stabilized the single
T stranded DNA
I 5)Gyrase – relaxes DNA
6)Primase – synthesize RNA primer
C 7)DNA Ligase – seals nick/breaks in
the S-P backbone
S
G REPLICATION (DNA template)
E
N TRANSCRIPTION (RNA transcript)
E
T TRANSLATION (Protein/Polypeptide)
I
C
GENE - TRAIT EXPRESSION
S