Life Science 4-1

Introduction to Genetics
Instructor
Brent Bill, Ph.D.
Email: bbill@ucla.edu

Ofce Hours

Monday 3:30-4:30 in Lakretz 101

Tuesday 9:00-10:00 in Terasaki Life Sciences 1000

Friday at 11:00-12:00 in Gonda building room 2303

TAs

Bella Haruty

Rekha Singh

Xiao Song

Kevin Wang

Life Science
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Materials

Textbook: Genetics: From Genes to

Genomes, Fourth Edition by Hartwell
et al. (2011).

Optional, but highly suggested: Study

Guide/Solution Manual and interactive
genetics CD-ROM and handbook.

Optional: Interactive Genetics,

Johnson and Merriam, 2004. Problem
book, and CD.
This is a fast paced course, and
covers a lot of material in a short
time. It is your responsibility to
keep up with the pace by doing
the readings and solving all
assigned problem sets.
Grading

Exam 1 Monday, July 7, 2014 100pts

Exam 2 Monday, July 21, 2014 100pts

Final Friday, August 1, 2014 200pts

Discussion 50pts

450 points based on a normal curve.

Exam Review Sessions

July 2, 3:30-5:00

July 18, 2:00-3:30

July 30, 3:30-5:00

All sessions in Humanities A51 (Lecture Hall)

Genetics

The Science of Heredity

It attempts to explain the the

similarities and differences that
occur among related individuals.
Genetics

Term coined in 1905 to describe a new emerging

eld by William Bateson.

From the Greek gen!tikos meaning origin, fertile, or

productive.

created to describe the elucidation of the

phenomena of heredity and variation, the
physiology of descent.
What are we going learn?

Apply Mendelian
Genetics and calculate
the probabilities of
transmission.

The exceptions to
Mendels laws
What are we going learn?

What is a gene?

How do we know
where genes are
located?

How do genes break,

and what is the
consequence?
What are we going learn?

How do we read the

information that is
found inside of a
gene?

How is this
information
regulated?
What are we going learn?

How can a gene

move within and
individual?

How can a gene

variation move
within a population?
Why do we care about Genetics?
Dinosaur Cloning Genetic Predetermination
Genetically-modied
Super-humans
Why do we care about Genetics?
Pharmacogenomics Diagnosis
Forensic Identication Gene Therapy
Why do we care about Genetics?
Articial Selection
Ecological Research
Breeding
Modern GMOs
Why do we care about Genetics?
Public Policy
Lysenkoism
Eugenics Movement
and genocide
GMO Labeling
and Growth
An exact determination of the laws of
heredity will probably work more change in
mans outlook on the world, and his power
over nature, than any other advance in
natural knowledge that can be foreseen.
W. Bateson
Take Home Message

No matter what you plan on doing,

you are here because genetics has
many practical, scientic, and
societal applications.
Setting the Stage

Why do some of the

children look like only one
of the parents, while
some of the other children
look more
like the great, great
grandparents?

What causes the

similarities and
differences of
appearance and the
skipping of generations?
Figure 2.1
Inheritance Theories
400-350 B.C.

Aristotle

The semen was puried form of blood that was transferred

to the female. In it was all that was required for the offspring.
It mixed with menstrual blood, that nourished the offspring
and helped it grow.

Hippocrates

Each part of the body created something that represented

itself. These somethings collected in the male, and were
transmitted to the female. This was a continuing process;
therefore, it allowed for the transfer of acquired
characteristics.

Plato

Followed Hippocrates Theory; however, disagreed that

acquired characteristics could be inherited.
Inheritance Theories
1860s

Galtons Law of Ancestral

Inheritance

Actually did transfusions

to test Aristotles idea
that the blood was
critical for inheritance.

Offspring received traits

from their ancestors;
however at a
decreasing amount.
1/4
1/8
1/16
1/32
Inheritance Theories
1860s

Darwins Theory of Pangenesis

Particles, called gemmules,

were collected from all parts
of body (exact miniatures),
and became concentrated in
germ cells

Very similar to Hippocrates

theory.
Hartsoecker in 1695
Inheritance Theories
1860s

Blending Inheritance

Substances were
blended together to yield
unique individual with
traits from both parents
X
The Hybridizers

Josef Klreuter

First Scientist to hybridize a plant

(Tobacco) for research.

Karl Friedrich von Grtner

Hybridized 700 species together to

create 10,000 Hybrids.

Knight (1823), Goss (1824), and

Seton (1824)

Worked with Pea Plants, and made

many of the same crosses Mendel
would do; however, they were not
able to make useful predictions.
Gregor Johann Mendel

Came from a farming background

(rural Austria/Currently Czech
Republic)

Joined the Augustitian Monastery in

Brno at 21.

At 28, enrolled in the University of

Vienna, after failing his teaching exam.

Study Mathematics (Combination

Theory), Physics (With Doppler),
Paleontology, and Biology (Scientic
botany).
Mendels Experiment

Goal: To deduce the law according

to which traits appear in successive
generations.

Model: Psium sativum - The Garden

Pea

Numerous Varities

Short Generation time (3 Months)

Easily identiable Traits.

Easy to cross
Mating Psium sativum
Vocabulary
Cross: The deliberate mating of 2 parental strains to obtain a
desired offspring
How was Mendels
Experiment Different?

Different Philosophy

Characters of the plant vs. Whole plant

Application of precise counting, record keeping,

and mathematics.

Made predictive models that he could test.

Mendels Visible Traits
Vocabulary
Phenotype: The physical appearance of a trait
Mendels First Cross

Round Vs. Wrinkled

X
100% Round
Vocabulary

Round Vs. Wrinkled

X
100% Round
P1
F1
Vocabulary

Round Vs. Wrinkled

X
100% Round
P1
F1
Parental Generation
Filial Generation
Mendels First Cross

Round Vs. Wrinkled

X
100% Round
P1
F1
Mendel said that that
the round trait is
dominating the
wrinkled, or
alternatively wrinkled
is recessive.
Mendels First Cross

Round Vs. Wrinkled

P1
F1
X
250 Plants
F2
Mendels First Cross

Round Vs. Wrinkled

P1
F1
X
250 Plants
F2 BEHE +*.(- >AB? I+"(J7$-
2.96:1
Mendels Second Cross
=G?>K>
Mendels Second Cross
=G?>K>
X
A a
Aa
A a
Mendels F1 Results
Mendels Results
Mendels Conclusions

Traits have two forms that can each breed true

The trait that appears in F1 progeny is the dominant

form

The trait that is hidden in the F1 progeny is the

recessive form

Progeny inherit one (elemente) unit from the maternal

parent and the other unit from the paternal parent.
These units remain discrete, and can reappear in the
second generation.
What happens in the F3?
Aa
A a A
A A a a
100% Green 100% Yellow 3:1 Yellow:Green
F1
F2
F3
Self
Self Self Self
1/3 2/3
Lets Revise the model
Aa
Aa a A
A A a a
100% Green 100% Yellow
1:2:1 Yellow:Yellow:Green
F1
F2
F3
Self
Self Self Self
Aa
Mendel Makes a Prediction
Aa
X
a
Testcross: A cross that mates the F1 to a recessive form.
Aa
a
1:1
Mendels Model Holds Up!
Aa
X
a
Aa a
2/3
X
A a
Aa
1/3
100% Yellow
50% Yellow
50% Green
Lets Revise Mendels Model
Aa
aa Aa
X
AA aa
1:1:1:1
AA
Aa Aa Aa
X
Aa
Vocabulary
Aa
aa Aa
X
AA aa
1:1:1:1
AA
Aa Aa Aa
X
Aa

Zygote: Lug!tos (yolked),

The cell created from the
fusion of the egg and
sperm/pollen.

Gametes: The specialized

cells (egg and sperm/pollen)
that transmit the heritable
material from one
generation to the next.
Vocabulary

Gene

Coined by Wilhelm Johannsen in 1909, Hypothesis

Free to unify the language although derived from
Pangens.

many characteristics of the organism are specied in

the gametes by determiners which are present in
unique, and independent ways.

A locatable region of genomic sequence,

corresponding to a unit of inheritance, which is
associated with regulatory regions, transcribed
regions and/or other functional sequence regions.
Physiological Units
Gemmules
Pangens
Ideoblasts
Plasomes
Biophores
}
Gene
Vocabulary
Aa
aa Aa
X
AA aa
1:1:1:1
AA
Aa Aa Aa
X
Aa

Allele: Allelomorph - (all#l#n

(of one another) and
morph# (form), Alternate
forms of the same gene.

homozygote: homos
(same), Individuals with the
same allele. ie. the
purebreds - AA and aa.

heterozygote: hetro
(different), Individuals with
different alleles. ie. the
hybrids - Aa

Vocabulary
Aa
aa Aa
X
AA aa
1:1:1:1
AA
Aa Aa Aa
X
Aa

Phenotype - The physical

appearance of the trait.

Genotype - The alleles that

are present.

Dominant: The phenotype

that is observed in the F1
progeny when 2 true
breeding strains are
crossed.

Recessive: The phenotype

that is masked in the F1
progeny when 2 true
breeding strains are
crossed.



Reginald Punnett
Aa
aa Aa
X
AA aa
1:1:1:1
AA
Aa Aa Aa
X
Aa
Aa
A
AA aa
a
Aa
Eggs
a
A
Aa AA
aa aA
A
a
P
o
l
l
e
n

G
r
a
i
n
s

!
!
Female Male Hermaphrodite
Mendels Dihybrid Cross
What if we look at two genes at once?
Y (yellow)
dominant to
y (green)
R (round)
dominant to
r (wrinkled)
Pea color Pea texture
Mendels Dihybrid Cross
First, cross a purebred plant that produces round, yellow
peas to a purebred plant that produces wrinkled, green
peas.
RRYY x rryy P
RrYy F
1
Mendels Dihybrid Cross
The F
1
plants produce 4 different combinations of alleles,
one allele for each gene.




What do you expect in the F
2
generation?
RrYy
RY Ry rY ry
Mendels Dihybrid Cross
RY Ry rY ry
RY
RRYY RRYy RrYY RrYy
Ry
RRYy RRyy RrYy Rryy
rY
RrYY RrYy rrYY rrYy
ry
RrYy Rryy rrYy rryy
RrYy
RrYy
Mendels Dihybrid Cross
RY Ry rY ry
RY
RRYY RRYy RrYY RrYy
Ry
RRYy RRyy RrYy Rryy
rY
RrYY RrYy rrYY rrYy
ry
RrYy Rryy rrYy rryy
Mendels Dihybrid Cross
RY 9/16
Ryy 3/16
rrY 3/16
rryy 1/16
There we predict that
Mendel found:
Mendels Dihybrid Cross
RY 9/16
Ryy 3/16
rrY 3/16
rryy 1/16
There we predict that
Mendel found:
315
108
101
32
9.8
3.5
3.2
1
What Mendel Found.
Take Home Message

There are multiple forms of a gene, known as

alleles.

Alleles segregate between the gametes so that

each offspring received one from each parent.

The relationships of these traits can be assessed

by crosses (monohybrid, dihybrid, and test cross).
Mendel Publishes!

Presented to the local scientic society on his

results, and published it in their journal (1865).

Ordered 40 reprints, and sent them to some of the

top scientist that he knew, and only heard back
from one, Nageli.

Nageli was really only interested in Hawkseed, so

Mendel volunteered to work with Nageli to
determine if the ratios were relevant to other
organisms.
Mendel

Hawkseed is has really small owers that required

Mendel to work under the microscope, and due to poor
optics, he almost lost his sight.

Unfortunately, Hawkseed reproduces via apomixis (the

cloning of the mother cell). This meant that Mendel
could not replicate his ratios.

He was also elected head abbot of the monastery, and

as such had a larger administrative role. Specically, he
spent most of his time nding taxes that were being
levied against the monastery.
The soap opera of
rediscovery.

1899 DeVries

Looks a Lychinis leaves, Finds 99 hairy:54 Smooth. Stated that this approached
a 3:1 ratio; however no mention of Mendel until the German translation comes
out several months later.

1900 Correns
DeVries arch rival wrote a letter to the editor pointing out that DeVries
number dont really add up, and that he changed his language to match
Mendels even though he barely cited his work.

Denes Mendels laws, and identied several exceptions.

1900 Von Tschermak

Cited Mendel in his graduate thesis. Fought to be called a rediscover as

he looked at this as his big break.
Mendels Law of
Segregation

In the formation of these cells, all elements

participate in an entirely free and equal
arrangement, by which it is only the differentiating
ones which mutually separate themselves.

There are 2 alleles per parent, and each offspring

gets one allele from each parent.
Mendels Law of
Independent Assortment

...It is demonstrated at the same time that the

relation of each pair of different characters in
hybrid union is independent of the other
differences in the two original parental stocks.

The segregation of one pair of alleles is not

effected by the segregation of a second pair of
alleles.
We need a better way.
What about trihybrid crosses? Tetrahybrid?
Simple Statistics for
Genetics
Probability =
# times event is expected to happen
# opportunities (trials)
Simple Statistics for
Genetics

The Product Rule

If events A and B are independent, the

probability that they occur together, P(A and B),
is P(A) X P(B)
Simple Statistics for
Genetics

The Sum Rule

Used when two outcomes are mutually exclusive

- ie. if one outcome prevents the other.

To calculate the chance of two mutually exclusive

outcomes that both satisfy the desired conditions,
add their respective probabilities together.

P(A OR B) = P(A) + P(B)

Monohybrid Cross Example

What is the probability that

the offspring will be
Heterozygous (Yy)?

Remember that are 2 ways

to be heterozygous Yy or
yY.
YY Yy
Yy yy
Y y
Y
y
Monohybrid Cross Example

P(Yy)= the probability of

getting the Y from the
female, and y from the
male.

P(yY)= the probability of

getting the y from the
female and Y from the
male.
YY Yy
Yy yy
Y y
Y
y
These are independent, so we use the product rule.

P(Yy)= P Y(1/2) X P y(1/2)

Monohybrid Cross Example
YY Yy
Yy yy
Y y
Y
y

P(Yy)= P Y(1/2) X P y(1/2)

P(Yy)= P Y(1/2) X P y(1/2)

Monohybrid Cross Example
YY yY
Yy yy
Y y
Y
y

P(Yy)= P Y(1/2) X P y(1/2)

P(Yy)=1/4
P(yY)=1/4

P(Yy)= P Y(1/2) X P y(1/2)

Monohybrid Cross Example
YY yY
Yy yy
Y y
Y
y

P(Yy)= P Y(1/2) X P y(1/2)

P(Yy)=1/4
P(yY)=1/4

What is the Chance that the offspring will be Heterozygous (Yy)?

Since we want to know if it is Yy or yY we want to use the Sum

Rule
Monohybrid Cross Example
YY yY
Yy
yy
Y y
Y
y
P(Yy)=1/4
P(yY)=1/4
P(Yy or yY)= P(Yy)+P(yY)
P(Yy or yY)=(1/4)+(1/4)
P(Yy or yY)= 1/2
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
Two possible genotypes: RRyy or Rryy
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
Two possible genotypes: RRyy or Rryy

P(yy)= P y(1/2) X P y(1/2)

P(yy)=1/4

P(RR)= P R(1/2) X P R(1/2)

P(RR)=1/4
P(RRyy)=P(RR) X P(yy)
P(RRyy)=1/4 X 1/4
P(RRyy)=1/16
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
Two possible genotypes: RRyy or Rryy (or rRyy)
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
Two possible genotypes: RRyy or Rryy (or rRyy)

P(yy)= P y(1/2) X P y(1/2)

P(yy)=1/4

P(Rr)= P R(1/2) X P r(1/2)

P(Rr)=1/4
P(Rryy)=P(Rr) X P(yy)
P(Rryy)=1/2 X 1/4
P(Rryy)=1/8

P(rR)= P r(1/2) X P R(1/2)

P(rR)=1/4
P(Rr or rR)=p(Rr) + p(rR)
P(Rr or rR) = 1/2
A Little Harder

In a dihybrid cross, between Round and Yellow F1

peas (RrYy), what proportion of the F2 would be
Round and Green?
Two possible genotypes: RRyy or Rryy
P(RRyy)=1/16 P(Rryy)=1/8=2/16
P(RRyy or Rryy)= P(RRyy)+P(RrYy)
P(RRyy or Rryy)= 1/16 + 2/16
P(RRyy or Rryy)= 3/16
Mendels Dihybrid Cross
RY Ry rY ry
RY
RRYY
RRYy
RrYY
RrYy
Ry
RRYy RRyy RrYy Rryy
rY
RrYY RrYy rrYY
rrYy
ry
RrYy Rryy rrYy rryy
P(RRyy or Rryy)= 3/16

What is the probability of not

being Yellow and Round?

What is the probability of not

being Yellow and Round?
P(Green,Round; Yellow, Wrinkled; or Green, Wrinkled)
Or
P(1-Yellow,Round)

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
What Genotypes are the genotypes that
produce Yellow Round Phenotypes?

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
What Genotypes are the genotypes that
produce Yellow Round Phenotypes?
YYRR
YyRR
YYRr
YyRr

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(Rr or rR)=p(Rr) + p(rR)
P(1-[YYRR or YyRR or YYRr or YyRr])

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(Rr or rR)=p(Rr) + p(rR)
P(Rr or rR) = 1/2
P(Yy or yY)=p(Yy) + p(yY)
P(1-[YYRR or YyRR or YYRr or YyRr])

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(Rr or rR)=p(Rr) + p(rR)
P(Rr or rR) = 1/2
P(Yy or yY)=p(Yy) + p(yY)
P(Yy or yY) = 1/2
P(1-[YYRR or YyRR or YYRr or YyRr])
P(RR)= P R(1/2) X P R(1/2)

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(Rr or rR)=p(Rr) + p(rR)
P(Rr or rR) = 1/2
P(Yy or yY)=p(Yy) + p(yY)
P(Yy or yY) = 1/2
P(1-[YYRR or YyRR or YYRr or YyRr])
P(RR)= P R(1/2) X P R(1/2)
P(RR)=1/4
P(YY)= P Y(1/2) X P Y(1/2)

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(Rr or rR)=p(Rr) + p(rR)
P(Rr or rR) = 1/2
P(Yy or yY)=p(Yy) + p(yY)
P(Yy or yY) = 1/2
P(1-[YYRR or YyRR or YYRr or YyRr])
P(RR)= P R(1/2) X P R(1/2)
P(RR)=1/4
P(YY)= P Y(1/2) X P Y(1/2)
P(YY)=1/4
P(YYRR)= 1/4 X 1/4 = 1/16
P(YyRR)= 1/2 X 1/4 = 1/8
P(YYRr)= 1/4 X 1/2 = 1/8
P(YyRr)= 1/2 X 1/2 = 1/4

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(1-[YYRR or YyRR or YYRr or YyRr])
P(YYRR)= 1/4 X 1/4 = 1/16
P(YyRR)= 1/2 X 1/4 = 1/8
P(YYRr)= 1/4 X 1/2 = 1/8
P(YyRr)= 1/2 X 1/2 = 1/4
P(1-[1/16 + 1/8 + 1/8 + 1/4])
P(1-[9/16])

What is the probability of not

being Yellow and Round?
P(1-Yellow,Round)
P(1-[YYRR or YyRR or YYRr or YyRr])
P(YYRR)= 1/4 X 1/4 = 1/16
P(YyRR)= 1/2 X 1/4 = 1/8
P(YYRr)= 1/4 X 1/2 = 1/8
P(YyRr)= 1/2 X 1/2 = 1/4
P(1-[1/16 + 1/8 + 1/8 + 1/4])
P(1-[9/16])
The probability of not being Yellow and Round is: 7/16
The Probability of NOT.
The probability
of not being
Yellow and
Round is: 7/16
RY Ry rY ry
RY
RRYY
RRYy
RrYY
RrYy
Ry
RRYy RRyy
RrYy
Rryy
rY
RrYY RrYy rrYY rrYy
ry
RrYy Rryy rrYy rryy
A tetrahybrid cross
You allow an F1 plant heterozygous for 4 traits self
cross. What proportion of the peas will be
AAbbCcDd?