Unit 3: Genetics

The Cell Cycle + DNA structure/function

Mitosis and Meiosis
Mendelian Genetics (aka - fun with Punnett squares)
DNA replication
 Yesterdays 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

 Todays Agenda
Where does variation come from?
Mendelian Genetics, Part One
 Sources of genetic variation

Mutations (changes in an organisms 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
Geneforforhair
haircolor;
color;
Allele
Allelefor
forblonde
blondehair
hair

Gene
Genefor
forhair
haircolor;
color;allele
allele
for
forbrown
brownhair
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 Gpa from Gma
red hair from red hair
Gma from Gpa

brown eyes brown eyes

from Gma from Gma
blue eyes from
Gpa
blue eyes from
Gpa
Moms ovary
cell
 Early in Nonsister
Meiosis I chromatids
held together
Pair of during synapsis
homologs

A single crossing
over event leads to
4 genetically
unique daughter
Sources of genetic variation

during Meiosis I cells!

(at anaphase I)
b) crossing over

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!!!
 Todays 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
Fig. 14-2a
1. Mendel
a) The scientific method

1
TECHNIQUE:
crossing or
hybridizing
true-breeding
varieties

Parental
generation
(P) Stamens
Carpel
3

4
Fig. 14-3-3
1. 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
Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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
Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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
Fig. 14-4
1. Mendel
Mendels
Mendelsexplanatory
explanatoryframework
framework

Diploid organisms
Allele for purple flowers

Homologous
Location of lower color gene pair of
chromosomes

Allele for white flowers

 1. Mendel
Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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)
(i) all
allFF11purple
purple
(ii)
(ii) some
someFF22white,
white,
(iii)
(iii)FF22purple:white
purple:whiteratioratio3:1
3:1
 1. Mendel
Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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 organisms appearance, and the other (the
recessive allele) has no noticeable effect on appearance

(i)
(i) all
allFF11purple
purple
(ii)
(ii) some
someFF22white,
white,
(iii)
(iii) FF22purple:white
purple:whiteratio
ratio3:1
3:1
 1. Mendel
Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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)
b)Mendels
Mendelsexplanatory
explanatoryframework
framework

Mendels 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)
(i) all
allFF11purple
purple
(ii)
(ii) some
someFF22white,
white,
(iii)
(iii)FF22purple:white
purple:whiteratioratio3:1
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
 2.2. Probability
Probabilityand
andgenetic
geneticoutcomes
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
 2.2. Probability
Probabilityand
andgenetic
geneticoutcomes
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

r Rr Rr
Genetic makeup: RR rr

Gametes: R r

r Rr Rr

F1 Generation

Appearance: Purple flowers

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

Sperm heterozygous
F2 Generation R r

R
RR Rr
Eggs

r
Rr rr

3 1
Fig. 14-5-3

Mendels 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:
Genetic makeup:
Purple flowers phenotypes, 3:1
Rr
Gametes: 1
/2 R 1
/2 r

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
 Todays 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.