Unit 3: Genetics

• The Cell Cycle + DNA structure/function

• Mitosis and Meiosis
• Mendelian Genetics (aka - fun with Punnett squares)
• DNA replication
 Yesterday’s Exit Ticket
MITOSIS MEIOSIS
preceded by replication of yes yes
chromosomes?
# of rounds of cell division 1 2
# of daughter cells 2 4
# of chromosomes in daughter cells same as parent cell half of parent cell
compared to parent cell

daughter cells genetically identical to yes no

parent cell?
sister cells thus produced identical to yes no
one another?
happens in diploid cells, haploid cells, both diploid
both, or neither? (depending on organism)

crossing over (synapsis)? no yes

 Today’s Agenda
• Where does variation come from?
• Mendelian Genetics, Part One
Sources of genetic variation

• Mutations (changes in an organism’s DNA) are the

original source of all genetic variation

• Mutations create different versions of genes called

alleles
 Clarity check: homologous chromosomes

SAME gene, different ALLELES

Gene for hair color;

Allele for blonde hair

Gene for hair color; allele

for brown hair
Sources of genetic variation

• The behavior of chromosomes during meiosis and

fertilization reshuffles alleles and chromosomes
every generation

• Three mechanisms contribute to genetic variation:

a) Independent assortment of chromosomes
b) Crossing over
c) Random fertilization
 Fig. 13-8b
Sources of genetic variation
a) Independent assortment

• Homologous pairs of chromosomes orient randomly during Meiosis I

 maternal and paternal homologs assort into daughter cells independently of
the other pairs

Metaphase I Blue can be

of meiosis I on top or
bottom
 Fig. 13-11-2
Sources of genetic variation
a) Independent assortment
Possibility 1 Possibility 2

with n = 2
there are
4 possibilities
for the
lineup
during
Meiosis II

4 possible assortments of
chromosomes in the gametes
 Fig. 13-11-3
Sources of genetic variation
a) Independent assortment
Possibility 1 Possibility 2

Metaphase II

Daughter
cells
Combination 1 Combination 2 Combination 3 Combination 4
Sources of genetic variation
a) Independent assortment

• “2n rule”: the number of possible chromosome

sorting combinations = 2n

 For humans (n = 23), there are 223 = 8,388,608

possible combinations of chromosomes based on
independent assortment alone!
 Sources of genetic variation

b) Crossing over (Prophase of Meiosis I)

• homologous chromosomes pair up gene by gene and exchange homologous
segments

• This combines alleles that originated from two (grand)parents into a single
chromosome

blond hair red hair

from G’pa from G’ma
red hair from red hair
G’ma from G’pa

brown eyes brown eyes

from G’ma from G’ma
blue eyes from
G’pa
blue eyes from
G’pa
Mom’s ovary
cell
Sources of genetic variation
b) crossing over
Early in Nonsister
Meiosis I chromatids
held together
Pair of during synapsis
homologs

A single crossing
over event leads
to 4 genetically
unique daughter
during Meiosis I cells!
(at anaphase I)

during Meiosis II
(at anaphase II)

Daughter
cells
Recombinant chromosomes
Human cells → n = 23

What is n for the cells shown here?

A.1
B.2
C.3
D.4
E.5
 Which cells in this picture are
haploid?
A.all
B.none
1 C.those above line #1
D.those below line #1
E.only those below line #2
2
A detailed look at meiosis

FIRST CELL
DIVISION =
“MEIOSIS I”

2nd CELL
DIVISION =
“MEIOSIS II”
Sources of genetic variation

c) Random fertilization
8.4 million
possible 8.4 million
gametes possible
gametes

> 70 trillion possible

offspring!!!
 Today’s Agenda
• Where does variation come from?
• Mendelian Genetics, Part One
Foundations of Genetics
Chapter 14
 Outline
1. The work of Gregor Mendel
2. Probability and genetic outcomes
3. Ah, if only it were so simple: complications
on genes and traits
1. Fig. 14-2a
Mendel
a) The scientific method

1
TECHNIQUE:
“crossing” or
“hybridizing”
true-breeding
varieties

Parental
generation
(P) Stamens
Carpel
3

4
1. Fig. 14-3-3
Mendel

EXPERIMENT

P Generation
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had
purple flowers

F2 Generation
224 white-flowered
705 purple-flowered plants
plants
1. Mendel

Making sense of the data:

Why were ALL the F1 flowers purple?

Why were some F2 flowers white?

Why was the ratio in the F2 generation 3:1?

 To explain the data, Mendel developed a model

1. Mendel
Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

(remember, DNA had not yet been discovered!)

1. Alternative versions of heritable “particles”

(i.e., different alleles of the same gene)
1. Mendel
Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

1. Alternative versions of heritable “factors” (i.e., alleles)

2. For each character an organism inherits

two alleles, one from each parent
1. Fig. 14-4
Mendel
Mendel’s explanatory framework

Diploid organisms
Allele for purple flowers

Homologous
Location of lower color gene pair of
chromosomes

Allele for white flowers

1. Mendel
Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

1. Alternative versions of heritable “factors” (i.e., alleles)

2. For each character an organism inherits

two alleles, one from each parent

(i) all F1 purple

(ii) some F2 white,
(iii) F2 purple:white ratio 3:1
1. Mendel
Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

1. Alternative versions of heritable “factors” (i.e., alleles)

2. For each character an organism inherits two alleles, one

from each parent
3. If the two alleles at a locus differ, then one (the dominant allele)
determines the organism’s appearance, and the other (the
recessive allele) has no noticeable effect on appearance

(i) all F1 purple

(ii) some F2 white,
(iii) F2 purple:white ratio 3:1
1. Mendel
Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

1. Alternative versions of heritable “factors” (i.e., alleles)

2. For each character an organism inherits two alleles, one

from each parent
3. Some alleles are “dominant”, others “recessive”

4. “Law of segregation” = the two alleles for a character are

separated (segregated) during gamete formation and
end up in different gametes
1. Mendel
b) Mendel’s explanatory framework

Mendel’s Model: 4 related hypotheses

1. Alternative versions of heritable “factors” (i.e., alleles) account for
variations in inherited characters
2. For each character an organism inherits two alleles, one from each
parent
3. Some alleles are “dominant”, others “recessive”
4. “Law of segregation”

(i) all F1 purple

(ii) some F2 white,
(iii) F2 purple:white ratio 3:1
 Outline
1. The work of Gregor Mendel
2. Probability and genetic outcomes
3. Ah, if only it were so simple: complications
on genes and traits
2. Probability and genetic outcomes

F1 individuals and their gametes

RR rr
EXPERIMENT

P Generation  homozygous
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had
purple flowers
2. Probability and genetic outcomes

F1 individuals and their gametes

F1 Generation
(hybrids)
All plants had
purple flowers

Possible gamete types

(with respect to flower color)?
Fig. 14-5-3

R R
P Generation

Appearance: Purple flowers White flowers

Genetic makeup: RR rr r Rr Rr

Gametes: R r

r Rr Rr
F1 Generation

Appearance: Purple flowers

Genetic makeup: Rr
Gametes: 1/ 1/ r
2 R 2

Sperm heterozygous
F2 Generation R r

R
RR Rr
Eggs

r
Rr rr

3 1
Fig. 14-5-3

Mendel’s “Law” of segregation is used to construct a

“Punnett square”

 this simple square tells you the expected frequencies of

genotypes and phenotypes from a particular cross
Fig. 14-5-3

P Generation

Appearance: Purple flowers White flowers

Genetic makeup: RR rr
Reviewing the numbers with respect
Gametes: R r
to this flower color gene:
 2 alleles x 2 alleles = 4 outcomes
 only 3 distinct genetic types, or
F1 Generation genotypes, 1:2:1
 only two distinct traits, or
Appearance: Purple flowers
Genetic makeup: Rr
phenotypes, 3:1
Gametes: 1/ 1/ r
2 R 2

Sperm
F2 Generation R r

R
RR Rr
Eggs

r
Rr rr

3 1
 Testcross: a useful tool
How can we figure out the GENOTYPE of a purple flower?

 could be PP or Pp
 Testcross: a useful tool
How can we figure out the GENOTYPE of a purple
flower?
(A)
PP

x
(B)
Pp
PP or Pp?

What do we cross the purple

flower with? (C) pp
 Today’s Exit Ticket
• Create and complete two Punnet squares:
1) A testcross of a heterozygote (rr x Rr)
2) A testcross of a homozygous dominant individual
(rr x RR)

• Explain why using a homozygous recessive

individual is useful for distinguishing between
Rr and RR.