Biology-Science of Life

What is Life?-Life arose from lifeless molecules

Characteristics
Cellular unit
Energy Metabolism
Ability to respond to Stimuli
Adaptability to Changing Environments
Ability to Reproduce

work published in
1866
virtually ignored
became abbot in
1868
died 1884

1854: began experiments with the common

garden pea:

What is Genetics?
Transmission of Characters from Parent to
off spring's-Heredity
What is Genetics ?
Science that studies mechanisms of Heredity and the Variation of
Inherited Characteristics-Rules of Inheritance.
Genetics explains us:
-why we are what we are;
- what we have in common with our parents and children;
- why we are different from our parents and children;
- whether illnesses are predetermined.
Hereditary information of an organism is found in DNA.
http://gslc.genetics.utah.edu/units/basics/

Branches of Genetics
Transmission Genetics: Passing of traits from one
generation to another; Classical, Mendelian Genetics
Molecular Genetics: Structure and Function of Genes
Population Genetics: Dealing with the distribution and
behavior of genes in mathematical terms within a
population E.g.. Conservation Genetics

Artificial Selection

(Purposeful mating to give Domesticated Plants and

Animals)

Why do valued traits sometimes disappear then reappear in only

some offspring?
What is inherited?
Traits-Units of Inheritance-Genetic traits (Genes)
Give rise to observable Traits (Phenotypes)
How is it Inherited?
What is the role of Chance in Heredity?

Relationship of Genetics to
other areas of Biology
a. Cytology.study of cells
b. Evolutiongradual change over a long period of time resulting from
natural selection
c. Animal Behavior.an animals responses and actions to insure its
survival
d. Developmental Biology.study of the embryological changes of an
organism
e. Plant Physiology..the functions and adaptations of plant morphology
f. Immunology.immune response; antigen/antibody relationships and
chemistry
g. Ecologythe study of the interactions of the living and nonliving
environment.

Model Organisms (Systems) to Study Genetics

Why Scientists work on yeast (or flies, or worms, or algae)?
What does that have to do with anything?
All organisms fundamentally possess the same set of genes, so what we learn
about one usually applies to others (including humans).
Rapid Development with Short Life Cycles
Small Adult Size
Ready Availability
Tractability
Large number of Offspring produced from each mating
Easy to handle
Must be observable variation in the offspring in the population
Eg. Bacteriophage, Escherichia coli, Saccharomyces, Slime molds,
Arabidopsis, Drosophila, Mammals-Mice, Monkeys

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Criteria for Models

Genetic history
Short Life Cycle
Large # Generations
in short time period
Large # Offspring
Easy to Handle
Genetic Variation

Mendels experiments with Garden peas

Using simple pea pod plants, Mendel studied seven basic

characteristics

of

the

pea

pod

plants.

By

tracing

these

characteristics, Mendel discovered three basic laws which

governed the passage of a trait from one member of a species to
another member of the same species

Self-fertilizing

Antagonistic Pairs

Appearance of Hybrid

Appearance of Hybrid

Advantages to Mendels approach

Carefully controlled breeding (selfed or crossed):
Use of Reciprocal crosses-Reversed traits male/female parents

Cross 1
egg

sperm

Progeny
same

Cross 2
egg

Progeny
same

sperm

Statistical Analysis of Crosses

plants

Dominant Trait
ALL F1 progeny resembled
one of the parental strains
one trait lost or hidden?

seeds

F1 x F1

Recessive Trait
In F2 progeny lost trait reappeared

Matings between individuals that differ in only one trait

(alleles of single gene) Monohybrid crosses

Advantages to Mendels approach

Clear-cut observable alternative forms of particular traits:

purple vs. white flowers

yellow vs. green peas
round vs. wrinkled peas
either-or traits (discrete traits)
no intermediate forms (continuous traits)
antagonistic pairs -used 7 in total

Advantages to Mendels approach

Establishment of pure-breeding lines : offspring carry parental traits that
remain constant from generation to generation
selfed
mated pure-breeding line of same trait
Mating of parents (pure lines) with antagonistic traits produced hybrid
offspring- more specifically monohybrids
Only one parent contributes most to offsprings inherited features (disproved
reciprocal crosses)- results of reciprocal crosses always same!
Parental traits become mixed and forever changed in offspring (disproved
through re-appearance of recessive traits)

Mendel Proposed:
Discrete units of inheritance:
Two copies for each trait (paternal/maternal)
Discrete units of inheritance are alleles of genes
Alleles are alternative forms of a single gene (trait)
i.e. seed, flower colour, pod shape etc.

Example of traits
Eye colour
Skin colour
Height
Hair texture

Examples of Alleles
Brown or blue
Albino or pigmented
Tall or short
Curly or straight

Most traits (including above) are determined by multiple

genes with multiple alleles

Mendels law of Segregation

During the formation of gametes, the two alleles
for a given trait separate (segregate) so each
gamete receives one or the other.
The traits then unite at random, one from each
parent, at fertilization.

The law of Segregation following alleles

selfed

selfed

cross

The Punnett square

P

Monohybrids

F1

Two different alleles

for a single trait
SELFED

F2

3: 1

The law of Segregation

1. Unit Factors (Genes) in Pairs:

Each parent carries 2 copies of a trait

specific allele exists for each gene (trait)
each individual receives 1 (allele) from each parent

http://sciborg.uwaterloo.ca/course_notes/biology/biol139/

Aristotle (384-322 BC) Spontaneous generation

Recipe for bees:
Kill a young bull, and bury it in an upright position so that its horns protrude from
the ground. After a month, a swarm of bees will fly out of the corpse.
Jan Baptista van Helmonts recipe for mice:
Place a dirty shirt or some rags in an open pot or barrel containing a few grains of
wheat or some wheat bran, and in 21 days, mice will appear. There will be adult
males and females present, and they will be capable of mating and reproducing
more mice.
Francesco Redi-Disproved origin of life from non living objects

Genetics Before Mendel

1665 Robert Hooke coins the term "cell" in reference to cavities seen in cork
1676 Nehemiah Grew recognized that plants have sex and that the pollen
represents the male element.
1691-4 Camerarius-discovered sexuality in plants
1760 Linnaeus-Sexual basis of Classification of Plants-Taxonomy
1761-1766 -Klreuter made many crosses, studied the pollination process. He
further recognized the importance of insects as natural pollinators.
1833 - Robert Brown Discovers Nuclei of Cells in Orchid roots
1835-39 - Hugo von Mohl described mitosis in detail
1858 - Rudolf Virchow - omnis cellula e cellula - All cells come from preexisting
cells
1859-Charles Darwins Origin of Species

Timeline of the History of Genetics-1

1866 Mendel's paper is published: units of inheritance in pairs; dominance and
recessiveness; equal segregation; independent assortment. These ideas are
essentially ignored for 34 years.
1869 DNA (first called "nuclein") is identified by Friedrich Miescher as an acidic
substance found in cell nuclei. The significance of DNA is not appreciated for 70
years.
1879-85 -W. Flemming described Chromosomes
1888 - W. Waldeyer first used the term chromosome
1875 - O. Hertwig observed fusion of sperm and egg
1885 - August Weismann -inheritance is based exclusively in the nucleus
1890 O. Hertwig and T. Boveri described meioses in detail

Timeline of the History of Genetics-2

1900 Mendel's experiments from 1866 are "rediscovered" and confirmed by
three separate researchers. Hugo de Vries, Carl Correns, Erich von Tschermak.
William Bateson translates Mendel's paper into English and champions the
study of heredity in England.
1902 A human disease is first attributed to genetic causes (Inborn errors of
metabolism-Sir Archibald Garrod, alkaptonuria)
1902 The chromosome theory of heredity is proposed by Sutton and Boveri,
working independently.
1905 The word "genetics" is coined by William Bateson
1905 Some genes are linked and do not show independent assortment, as
seen by Bateson and Punnett.

Timeline of the History of Genetics-3

1903-9 First experiments on quantitative traits in broad beans by Wilhelm
Johanssen and in wheat by Herman Nilsson-Ehle.
1910-11 The chromosome theory of heredity is confirmed in studies of fly eye
color inheritance by T.H. Morgan and colleagues.
1913 First ever linkage map created by Columbia undergraduate Alfred
Sturtevant (working withT.H. Morgan).
1910's-30's The eugenics movement is popular, fueling racist sentiment and
leading to involuntary sterilization laws.
1925-27 H. Muller shows that X-rays induce mutations in a dose-dependent
fashion.

Timeline of the History of Genetics-4

1928 Some component of heat-killed virulent bacteria can "transform" a nonvirulent strain to become virulent, as shown by Fred Griffith
1931 Genetic recombination is caused by a physical exchange of chromosomal
pieces, as shown in corn by Harriet Creighton and Barbara McClintock
1932 One Gene-One Enzyme Concept
1940- Recombination occurs within genes
1941 One gene encodes one protein, as described by Beadle and Tatum.
1942 Complementation test by Lewis

Timeline of the History of Genetics-5

1944 DNA is the molecule that mediates heredity, as shown in Pneumococcus
transformation experiments by Avery, MacLeod, and McCarty. Most people
were skeptical of these findings until 1952.
1946 Genetic material can be transferred laterally between bacterial cells, as
shown by Lederberg and Tatum.
1950 In DNA, there are equal amounts of A and T, and equal amounts of C and
G, as shown by Erwin Chargaff. However, the A+T to C+G ratio can differ
between organisms.
1952 DNA is the molecule that mediates heredity, as shown in bacteriophage
labeling experiments by Alfred Hershey and Martha Chase. This confirmation of
the 1944 results really convinced everyone.

Timeline of the History of Genetics-6

1953 DNA is in the shape of a double helix with antiparallel nucleotide chains
and specific base pairing. This was deduced by Watson and Crick, who used
Rosalind Franklin's data provided by Maurice Wilkins.
1958 DNA replication is semi-conservative, as shown by Meselson and Stahl
using equilibrium density gradient centrifugation.
1959 Messenger RNA is the intermediate between DNA and protein
1960 Yanofsky Recombination occurs between adjacent nucleuotide pairs
1966 The genetic code is cracked by a number of researchers (including
Nirenberg, Matthaei, Leder, and Khorana) using RNA homopolymer and
heteropolymer experiments as well as tRNA labeling experiments.

Timeline of the History of Genetics-7

1970 The first restriction enzyme is purified by Hamilton Smith.
1972-73 Recombinant DNA is first constructed by Cohen and Boyer.
1977 DNA sequencing technology is developed by Fred Sanger.
1986 PCR is developed by Kary Mullis.
1990's Genome projects are begun. The yeast genome is complete in 1996,
and the C. elegans genome is done in 1998.
1990's DNA microarrays are invented by Pat Brown and colleagues.
1990's DNA fingerprinting, gene therapy, and genetically modified foods come
onto the scene.
1995

Automated

accelerate.

sequencing

technology

allows

genome

projects

to

Timeline of the History of Genetics-8

1996-7 The first cloning of a mammal (Dolly the sheep) is performed by Ian
Wilmut and colleagues, from the Roslin institute in Scotland.
2000 The Drosophila genome is completed. The Arabidopsis genome is
completed. The human genome is reported to be completed.
2001 The sequence of the human genome is released, and the "post-genomic
era" officially begins.
2004 Controversies continue over cloning and genetic modification of crops.

Genetic Terminology
Genes:

Hereditary elements

Alleles:

Forms of a Gene A

Heterozygote: Aa
Homozygote: AA aa
Genotypes
Phenotypes
Dominance:

AA Aa Same Phenotype
Different Genotypes

Mendels First Law

Equal Segregation of Two members of a gene pair

Meiosis
diploid nuclei divides
produces haploid nuclei

gametes

gametes

Aa

Summary
Parental

AA

F1 Hybrid

Aa

Selfing
F2

aa

Aa

Aa

AA
1

Aa
2

aa
1

1. F1 One Phenotype
2. F2 3:1 ratio of 2 phenotypes
1:2:1 ratio of 3 genotypes

Two Characters
Monohybrid Cross

Parents differ for a single character (single gene): Seed shape

Dihybrid Cross

Parents differ for two characters (two genes)

Dihybrid
Two characters:
1. Seed Colour

Yellow-Y

Green-y

2. Seed Shape

Round-R

Wrinkled-r

4 phenotypes

Dihybrid
Parents

RRyy

Gametes

Ry

F1

rrYY

rY

RrYy

Dihybrid

F1 Dihybrid-----F2
F1

RrYy
RrYy

F2

Total

315 round, yellow

108 round, green

101 wrinkled, yellow

32 wrinkled, green
556

RrYy

Individual Characters
1. Seed Shape

Round
423
3

: Wrinkled
: 133
:
1
:

2. Seed Colour

Yellow : Green
416 : 140
3
: 1

Conclusion
3:1 monohybrid ratio for each character
9:3:3:1 phenotypic ratio-A random combination of 2 independent
3:1 ratios

Two Independent Genes

F2

Seed Shape
Round

Yellow
Colour

Wrinkled

9/16

3/16

3/16

1/16

Green
F2 Phenotypes

Applying Probability to Genetics

Dihybrid: RrYy
Hypothesis:
Mechanism for putting R or r into a gamete is
independent of the mechanism for putting Y or y into a gamete

Gametes for a Dihybrid

Principle of Segregation
Yy------P(Y)=P(y)=1/2
Rr------P(R)=P(r)=1/2

Probability (P)=

Number of anticipated events

Total Number of possibilities

The Sum Rule

For mutually exclusive events, the probability (P) of either event occurring is
the sum of their individual probabilities
P (A or B) = P (A) + P (B)

Application to Mendels Crosses

In monohybrid crosses, the probability of producing an offspring of dominant
phenotype is:
P (A-) = p (Aa or AA) = 2/4 + 1/4 = 3/4

Gametes from Dihybrid

RrYy
4 Gamete Types

Probability
Y and R

YR

Y and r

Yr

y and R

yR

y and r

yr

For independent events, the probability (P) of both events occurring is

the product of their individual probabilities-The Product Rule
P (A and B) = P (A) * P (B)

F1 gametes produce F2
F1

YyRr

YyRr
Male Gametes

YR

YR
Female
Gametes

Yr

yR

yr

1/16 RRYY

Yr
yR

F2

yr

Gametes from Dihybrid

4X4 = 16

Mendels Second Law

Principle of Independent Assortment: Genetic traits are
inherited independently of one another. One trait does not
affect the inheritance of the other.
During gamete formation, the segregation of one gene pair
is independent of other gene pairs.

Independent Assortment
F2 Genotypes
RR

3X3=9
Rr

rr

1/16 YYRR
YY
F2

Yy
yy

F2 Phenotypes
R Y yy

9/16 R-Y-

2X2=4
rr

F1
F2 Genotypic ratio
1/16
2/16
2/16
1/16

YY RR
YY Rr
Yy RR
Yy Rr

YyRr

YyRr
F2 Phenotypic ratio

9/16 Yellow, Round

1/16 YY rr
2/16 YyRr

3/16 Yellow, Wrinkled

1/16 yy RR
2/16 yy Rr

3/16 Green, Round

1/16 yy rr
9 Genotypes

1/16 Green, Wrinkled

4 Phenotypes

Independent Assortment
Any number of independent genes:
Genes

Phenotypes

Genotypes

27

2n

3n

The Cytological Basis of Assortment

Mendel thought of alleles as particles. Each gamete has one
allele at each locus, and alleles from different loci are drawn
independently, like marbles and sticks from a bag. This is called
independent assortment.
If loci are on different chromosomes, or far away from each other
on the same chromosome, alleles at these loci will assort
independently.
This is because, during meiosis, pairs of chromosomes split and
migrate to opposite poles of the cell. This process is random with
respect to which alleles are on the chromosome

How has the modern synthesis changed Darwins postulates?

1. Individuals within species are variable.
Mutation creates new alleles. Segregation and independent
assortment create new combinations of alleles thus producing
variation among the individuals in a population.
2. Some of these variations are passed on to offspring. Genes are
passed on to offspring as intact units.

Random Fertilization
sperm = 1 in 8 million possibilities
egg = 1 in 8 million possibilities

What are the chances that YOU exist???

Less than 1 in 64 trillion!