L2 Biol261F2014

Drosophila melanogaster!
In a classical monohybrid cross, which of the

following best describes your F2 expectations for the
frequency ratios of: phenotypes, genotypes and
alleles?!
!
a) Phenotypes 3 (dominant): 1(recessive); genotypes 3:
1, alleles 3:1!
b) Phenotypes 1 (dominant): 1(recessive); genotypes 3:
1, alleles 3:1!
c) Phenotypes 3 (dominant): 1(recessive); genotypes 1:
1, alleles 3:1!
d) Phenotypes 3 (dominant): 1(recessive); genotypes 3:
1, alleles 1:1!
!
Biol 261
Lecture 2
Segregation ratios and sex determination.!

!Mendel
emphasized: !
(1) a specific breeding design (Monohybrid Cross) to control
variation; (2) categorical character differences (variation)
between parents (Parentals); (3) informative nature of the F1
and F2 character or phenotype ratios. (4) genetic results are
statistical results.!
!
(2) His first genetic law equal (random) segregation of male
and female gametes and their (random) recombination was
inferred from the observed F1, F2 and F3 pattern of phenotype
ratios.!
!
!!
1!
F1 cross!
(round phenotype Rr) " " (round hybrid phenotype Rr)"
Classical ratios are probability
expectations!
1/ "
2
R" Sperm"
alleles into eggs"

R"
1/ "
2
1/ "
2
R"
R"
1/ "
4
r"
F2"
R"
r"
1/ "
4
1/ "
2
R_=round seeds"
r"
R"
r"
1/ "
4
75% round!
25% wrinkled!
Eggs"
r"
"
alleles into sperm"
r"
1/ "
4
Rr=wrinkled seeds"
3R_ : 1 rr!
Mendel 1"
equal allele
(random)segregatio
n into male and
female gametes!
P Generation"
Purple flowers" White flowers"

Appearance:"
Genetic makeup:"
PP"
pp"
p"
P"
Gametes:"
F1 Generation"
Appearance:"
Genetic makeup:"
Gametes:"
Purple flowers"
Pp"
1/ "
2
1/ "
2
P"
p"
What evidence
requires Mendels
model to have 2
alleles/parent rather
than 1,3,4, 5 etc.. ? "
Sperm"
F2 Generation"
P"
p"
PP"
Pp"
Pp"
pp"
P"
Eggs"
p"
3"
1"
What evidence
indicates there are
not 3 or more
different alleles?"
F2
F3
P allele = purple,!
or P_ phenotype"
p allele ~ white (pp phenotype)"
4!
X
Outcome ?!
Testing the genotype of a dominant phenotype using a breeding

design. !
!
Test cross: a breeding design used to test an unknown genotype.!
!
Method Cross a phenotype (with an unknown genotype) with a
recessive phenotype (homozygous) of the same character."
!
Deducing the nature of an unknown genotype of individuals

with at least 1 dominant allele - Test Cross"
!
X
?!
p!
!
p!
p!
P!
P!
p!
P!
P!
P!
p!
A!
or ?!
B!
or ?!
Punnett Square Models!
C!
5!
Deducing the genotype of the parent with at least 1 dominant

allele but an unknown genotype - Test Cross"
!
X
p!
p!
P!
p!
pp!
(50%)! White phenotype!
P!
Pp!
(50%)! Purple phenotype!
Pp!
(100%)!
or!
6!
How different
from 3:1
expected classical
F2 monohybrid
ratio is
acceptable ? !
!
Statistical test!
7!
Testing Observed ratios - the Chi-square test!
(1) How many categories!

in this case phenotypes ?!
!
!
400 individuals scored!
Observe:
315 purple and 85 white .!
Classical Expectations? 3 purple

:
1 white !
In 400 observations,
300 purple,
100 white.!
!
2 = (observed expected) 2 /expected
!
!
= [(85 100) 2 /100] + [(315 300) 2 /300]

= (225 /100) + (225 /300) = 3.0
7!
Testing Observed ratios - the Chi-square test!

Observed ratios are often not exactly 3:1. How much of a difference between
the observed and expected (3:1) is acceptable, when is it significant ? !
2 = (observed exp ected)2 / exp ected
= #$(85 100)2 /100%& + #$(315 300)2 / 300%&

= (225 /100) + (225 / 300) = 3.0
2 categories (n), !
1 degree of
freedom (n-1 )!
Significant =statistically different!
! or less probable than!
The critical value !
!
9!
2 = (observed exp ected)2 / exp ected
10!
Pp57 genetic analysis is to dissect a biological property (character

or phenotype) by discovering the (set of ?) single genes that affect
it."
Pp 17 Forward genetic analysis: start with mutants (variants),
identify the genetic basis of the mutant (gene variant,
mechanism), and then proceed to detailed explanations of cell
biochemistry, physiology, development and integration. Forward
genetic analysis starts with the classical approach!
(1) Choose and define a biological character, property, trait or
phenotype of interest. !
(2) Find character mutants. In agriculture, animal and plant
breeding, inbreed new and interesting varieties. In model systems,
define the most frequent (wild type). Find or make a variant
(mutant) for that character, affecting that property or phenotype.!
(3) Check inbred wild and mutant strains, varieties for single gene
11!
inheritance ( Classical ratios ?- 2 test ?). !
Chromosomal Theory of Inheritance!
12!
2.5 Sex-Linked, single gene inheritance patterns !
The demonstration that the inheritance of sex character could
be explained (or predicted) using Mendel 1, even though the
phenotype ratios were not in the expected classic ratio,
provided strong support for Mendels interpretation of the
underlying nature of inheritance (Mendel 1).!
!
This work was done in the early 1900s by Thomas Hunt Morgan
and his students working on Drosophila melanogaster, after it was
reported by several biologist that insects have remarkably
different chromosome states correlated with their sex
expression.!
!
!
Model Organism Drosophila!
13!
Males have 1 X chromosome and a Y,

Females have 2 X chromosomes!
hemizygous!
14!
Morgan switched to using
D. melanogaster in 1908 as
the model organism, 2
years later he found a
single white-eyed male. !
To investigate the inheritance of white eyes Morgan:!

(1) Crossed pure - breeding red eyed females with white eyed
males:!
(2) F1: 1234 red eyed progeny and 3 white - eyed males (new
mutants ?).!
(3)F2: all females were red eyed, 1/2 males had white eyes, 1/2 red.!
!
Gene nomenclature
15!
1. A = uppercase dominant allele a- lowercase = recessive allele
2. In Drosophila - The symbols are STRONGLY based on
familiarity with the normal or wild type phenotype.
A plus superscript (+) indicates the wild type. Wild type alleles are
typically but not always dominant.
Typically the mutant type donates the letter symbol:
lower case for a recessive mutation;
CAPITOL LETTERS(s) for a dominant mutation.
Example:
+ = wild type (rusty-red) eyes
v = vermillion, b = brown, w = white recessive alleles,
each of these is a different classical Mendelian gene .
v+,
b+,
w+,
= wild type eye color
? Sex, eye color phenotype, genotype ?

A) Xw Xw
B) Xw Y
C) Xw+ Xw+ =
D) Xw+ Xw
E) Xw+ Y
16!
17!
Reciprocal
monohybrid crosses
testing Morgans
hypothesis that the
eye color gene is on
the X chromosome.
Note that sex and
eye color are
linked because
this gene is on the
X chromosome and
the X chromosome
is part of the sexdetermination
system.
1a
1b
2a
2b
18!
Reciprocal
monohybrid
crosses testing
Morgans
hypothesis that
the eye color gene
is on the X
chromosome.
1a
1b
1a. all red eyed

1b. red females
white males
2b
2a
Unlike
classical mendelian F1, the
reciprocal P crosses produce
different phenotype ratios!
19!
F2: All red

females, 50%
red malesagain non
classical
1a
1b
2a
2b
20
1a. all red eyed
1b. red females
white males
2a.
red eyed females
red males
white males
1a
1b
2b. red males

white males
red females
white females
2a
2b
21!
The first exception, Monohybrid crosses for genes that are on

sex chromosomes do not show classical Mendelian ratios
(sex linked inheritance).
Thus (1) Classical Mendelian ratios only apply to non-sex
chromosomes (autosomes).
But (2) however different from the expected 3:1 ratio, this
exception supports Mendels conclusion that (1) maternal
and paternal alleles of the same gene must segregate into
different gametes (in the F1) and (2) phenotype ratios in a
breeding design are informative .
Cross a homozygous white eyed female with a

red eyed male - what is the outcome? What color
eyes will the female and male offspring have, and
in what ratios in the F1?
red eye male X female white eye
Xw+ Y
Xw Xw
a) 75% white eye males 25% red eye females!
b) 50% white eye males 50% red eye females!
c) 25% red eye males 75% white eye females!
d) 50% red eye males 50% white eye females!
22!
23!
Key indicators of sex linked traits.

Reciprocal crosses do no give similar results:
The outcome is different when the male parent carries the mutant
phenotype and when the female parent carries the mutant phenotype.
In natural populations, sex-linked trait frequencies among male and
female offspring are different. Traits have a higher frequency of
expression in one sex in a breeding population.
When males are homogametic (one sex chromosome), sex- linked
traits pass from mother to son or father to daughter.
In birds (moths and butterflies) the females have

heteromorphic sex chromosomes Z and W. Males have
the homomorphic sex chromosomes called ZZ.
24!
25!
Grasshoppers have an XO determination system,

Male -has an XO chromosome , O= absence
Female - XX,
!
Females of other insect species have no homologue (Z0) "

whereas males have 2 similar sex chromosomes (ZZ)"
26!
Chromosomal Sex !
Determination!
Females homogametic!
X0 system!
Males homogametic!
Haplo-diploidy!
Compound sex
determination"
The number of sex
chromosomes is not
necessarily limited to 1
or 2, platypus has 5 pairs
(X and Y)!!
Sex determination
in vertebrates can
also be
temperature
dependent!
27!
28!
Sexual development may initially depend
on chromosomal differences in humans,
grasshoppers, chickens and flies.

In other species, sex depends on specific,
external environmental cues.

Position in Crepidula fornicata!
!
Definitions: autosomes, sex chromosomes,
homozygous, heterozygous, hemizygous.!
test cross, chi square analysis!
!
Know: Thomas Hunt Morgans experiments!
Sex linkage means genes on the X or Z chromosome,
therefore associated with sex determination.!
Chromosomal sex determination in humans and
Drosophila,- nomenclature!
Environmental sex determination.!
!
29!
33. Recessive s allele causes small wings in Drosophila and this

gene is X linked.
(XsY)
Parental generation: Small winged males are crossed to a
homozygous, wild type females.
( Xs+ Xs+ )
Predict the F1 and F2 expected phenotypes, genotypes and
their frequencies,
33. Recessive s allele causes small wings in Drosophila.

It is X linked. Small winged male parentals are crossed to
homozygous wild type females in a typical monohybrid cross.
F1
Female
Xs+ Xs+
Male
Xs Y
Xs
Xs+ XsXs+ Xs+ Y
Males and female offspring wild type,

normal wings
30!
33. Recessive s allele causes small wings in Drosophila.

It is X linked. A small winged male is crossed to a homozygous
wild type female.
F1
Female
Xs+ Xs+
Male
Xs Y
Xs
31!
Xs+ XsXs+ Xs+ Y
Males and female offspring wild type,

normal wings
Xs+
F2
Xs
XsXs+ XsY
Xs+
Xs+Xs+ Xs+Y
Females all wild type

0.5 Males small winged
0.5 Males wild type
A dominant b+ causes wild type body color in Drosophila,

homozygous recessive b is black. A testcross of a wildtype
female gave 52 black and 56 wildtype offspring. If this
female was crossed to a black bodied male, what are the
expected progeny ratios ?!
32!
Sex, eye color phenotype, genotype ?

!
Xw Xw
Xw Y
Xw+ Xw+
Xw+ Xw
Xw+ Y
= female, white eyes; homozygous

= male, white eyes; hemizygous
= female, red eyes; homozygous
= female, red eyes; heterozygous
= male, red eyes; hemizygous

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Drosophila melanogaster!

In a classical monohybrid cross, which of the

Segregation ratios and sex determination.!

(round phenotype Rr) " " (round hybrid phenotype Rr)"

Classical ratios are probability

alleles into eggs"

Purple flowers" White flowers"

Testing the genotype of a dominant phenotype using a breeding

Deducing the nature of an unknown genotype of individuals

Punnett Square Models!

Deducing the genotype of the parent with at least 1 dominant

(50%)! White phenotype!

(50%)! Purple phenotype!

Testing Observed ratios - the Chi-square test!

(1) How many categories!

315 purple and 85 white .!

Classical Expectations? 3 purple

= [(85 100) 2 /100] + [(315 300) 2 /300]

Testing Observed ratios - the Chi-square test!

2 = (observed exp ected)2 / exp ected

= #$(85 100)2 /100%& + #$(315 300)2 / 300%&

2 = (observed exp ected)2 / exp ected

Pp57 genetic analysis is to dissect a biological property (character

Chromosomal Theory of Inheritance!

Model Organism Drosophila!

Males have 1 X chromosome and a Y,

To investigate the inheritance of white eyes Morgan:!

? Sex, eye color phenotype, genotype ?

1a. all red eyed

F2: All red

2b. red males

The first exception, Monohybrid crosses for genes that are on

Cross a homozygous white eyed female with a

Key indicators of sex linked traits.

In birds (moths and butterflies) the females have

Grasshoppers have an XO determination system,

Females of other insect species have no homologue (Z0) "

Position in Crepidula fornicata!

33. Recessive s allele causes small wings in Drosophila and this

33. Recessive s allele causes small wings in Drosophila.

Xs+ XsXs+ Xs+ Y

Males and female offspring wild type,

33. Recessive s allele causes small wings in Drosophila.

Xs+ XsXs+ Xs+ Y

Males and female offspring wild type,

Females all wild type

A dominant b+ causes wild type body color in Drosophila,

Sex, eye color phenotype, genotype ?

= female, white eyes; homozygous

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