Transmission Genetics BASIC

REVIEW OF DIFFERENT MODES OF INHERITANCE

 • any characteristic that can be
Trait passed from parent to offspring

• passing of traits from parent to

Heredity offspring

Genetics • study of heredity

 Alleles • two forms of a gene (dominant &
recessive)

• stronger of two genes expressed in

Dominant the hybrid; represented by a capital
letter (R)

• gene that shows up less often in a

Recessive cross; represented by a lowercase
letter (r)
 • gene combination for a
Genotype trait (e.g. RR, Rr, rr)

• the physical feature

Phenotype resulting from a genotype
(e.g. red, white)
 • gene combination involving 2 dominant
Homozygous or 2 recessive genes (e.g. RR or rr)
genotype • also called pure

• gene combination of one dominant &

Heterozygous one recessive allele (e.g. Rr)
genotype • also called hybrid
 6

Monohybrid cross
• cross involving a single trait
e.g. flower color
Dihybrid cross
• cross involving two traits
e.g. flower color & plant height
Monohybrid
Crosses
 P1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round r – Wrinkled
Cross: Round seeds x Wrinkled seeds
RR x rr
Genotype: Rr
r r
Phenotype: Round
R Rr Rr Genotypic
Ratio: All alike
R Rr Rr Phenotypic
Ratio: All alike
 P1 Monohybrid Cross Review
 Homozygous dominant x Homozygous
recessive
 Offspring all Heterozygous
(hybrids)
 Offspring called F1 generation
 Genotypic & Phenotypic ratio is ALL
ALIKE
 F1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round r – Wrinkled
Cross: Round seeds x Round seeds
Rr x Rr
Genotype: RR, Rr, rr
R r
Phenotype: Round &
RR Rr wrinkled
R
G.Ratio: 1:2:1
r Rr rr P.Ratio: 3:1
 F1 Monohybrid Cross Review
 Heterozygous x heterozygous
 Offspring:
25% Homozygous dominant RR
50% Heterozygous Rr
25% Homozygous Recessive rr
 Offspring called F2 generation
 Genotypic ratio is 1:2:1
 Phenotypic Ratio is 3:1
…And Now the Test Cross
Mendel then crossed a pure & a
hybrid from his F2 generation
This is known as an F2 or test
cross
There are two possible
testcrosses:
Homozygous dominant x Hybrid
Homozygous recessive x Hybrid
 F2 Monohybrid Cross (1 )
st

Trait: Seed Shape

Alleles: R – Round r – Wrinkled
Cross: Round seeds x Round seeds
RR x Rr
Genotype: RR, Rr
R r
Phenotype: Round
R RR Rr Genotypic
Ratio: 1:1
R RR Rr Phenotypic
Ratio: All alike
 F2 Monohybrid Cross (2nd)
Trait: Seed Shape
Alleles: R – Round r – Wrinkled
Cross: Wrinkled seeds x Round seeds
rr x Rr

R r Genotype: Rr, rr
Phenotype: Round &
r Rr rr Wrinkled
G. Ratio: 1:1
r Rr rr P.Ratio: 1:1
 F2 Monohybrid Cross Review
 Homozygous x heterozygous(hybrid)
 Offspring:
50% Homozygous RR or rr
50% Heterozygous Rr
 Phenotypic Ratio is 1:1
 Called Test Cross because the
offspring have SAME genotype as
parents
Mendel’s Laws
 Results of Monohybrid Crosses
Inheritable factors or genes are
responsible for all heritable
characteristics
Phenotype is based on Genotype
Each trait is based on two genes,
one from the mother and the
other from the father
True-breeding individuals are
homozygous ( both alleles) are the
same
 LAW OF DOMINANCE
In a cross of parents that are pure for
contrasting traits, only one form of the trait
will appear in the next generation.

All the offspring will be heterozygous and

express only the dominant trait.

RR x rr yields all Rr (round seeds)

 LAW OF SEGREGATION

During the formation of gametes (eggs or

sperm), the two alleles responsible for a
trait separate from each other.

Alleles for a trait are then "recombined"

at fertilization, producing the genotype
for the traits of the offspring.
Applying the Law of Segregation
LAW OF INDEPENDENT ASSORTMENT

Alleles for different traits are

distributed to sex cells (& offspring)
independently of one another.

This law can be illustrated using

dihybrid crosses.
 Dihybrid Cross
A breeding experiment that tracks the
inheritance of two traits.
Mendel’s “Law of Independent
Assortment”
a. Each pair of alleles segregates
independently during gamete formation
b. Formula: 2n (n = # of heterozygotes)
 Question:
How many gametes will be produced
for the following allele arrangements?

Remember: 2n (n = # of heterozygotes)

1. RrYy

2. AaBbCCDd

3. MmNnOoPPQQRrssTtQq
 Answer:
1. RrYy: 2n = 22 = 4 gametes
RY Ry rY ry

2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD

3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64
gametes
 Dihybrid Cross
Traits: Seed shape & Seed color
Alleles: R round
r wrinkled
Y yellow
y green

RrYy x RrYy

RY Ry rY ry RY Ry rY ry

All possible gamete combinations

 Dihybrid Cross
RY Ry rY ry

RY

Ry

rY

ry
 Dihybrid Cross
RY Ry rY ry

RY RRYY Round/Yellow: 9
RRYy RrYY RrYy

Ry RRYy Round/green: 3
RRyy RrYy Rryy

wrinkled/Yellow: 3
rY RrYY RrYy rrYY rrYy
wrinkled/green: 1
ry RrYy Rryy rrYy rryy 9:3:3:1 phenotypic
ratio
 Test Cross
A mating between an individual of unknown
genotype and a homozygous recessive
individual.
Example: bbC__ x bbcc

BB = brown eyes
Bb = brown eyes
bb = blue eyes bC b___

bc
CC = curly hair
Cc = curly hair
cc = straight hair
 Test Cross
Possible results:

bC b___
C bC b___
c

bc bbCc bbCc or bc bbCc bbcc

 Summary of Mendel’s laws
LAW PARENT CROSS OFFSPRING

DOMINANCE TT x tt 100% Tt
tall x short tall

Tt x Tt 75% tall
SEGREGATION
tall x tall 25% short

INDEPENDENT RrGg x RrGg 9/16 round seeds & green pods

3/16 round seeds & yellow pods
ASSORTMENT round & green x 3/16 wrinkled seeds & green pods
round & green 1/16 wrinkled seeds & yellow pods
 MODIFICATIONS TO
MENDEL’S CLASSIC RATIOS
Wild-type allele

Allele that occurs most

frequently in a population

One that is arbitrarily

designated as normal

Usually dominant in diploid

• Mendelian
• Upper- and lowercase letters to symbolize
alleles
• Drosophila genetics
• Initial letter, or a combination of several
letters of the name of the mutant trait is
selected
• Drosophila genetics (cont.)
• Recessive – the lowercase form of the
initial letter is used
• Contrasting wild-type is denoted by the
same letter, but with a  as a
superscript
Example: Drosophila melanogaster

• Ebony - recessive body color mutation (e)

• Gray – normal wild type body color (e+)
• Diploid fly: 3 possible genotypes
• e+/e+ gray homozygote (wild type)
• e+/e gray heterozygote (wild type)
• e/e ebony homozygote (mutant)
• Slash indicates that the two allele designations
represent the same locus on two homologous
chromosomes
NON-MENDELIAN GENETICS
WHAT COLOR OFFSPRING WOULD YOU GET WHEN
YOU CROSS A PURE (HOMOZYGOUS) RED
SNAPDRAGON WITH A PURE WHITE SNAPDRAGON?

?
ODDLY ENOUGH, NEITHER RED NOR WHITE

Snapdragon Flower
Color is controlled
by Incomplete
Dominance and a
new 3rd phenotype
is seen.
HOW DOES INCOMPLETE DOMINANCE WORK?
INCOMPLETE DOMINANCE IS A BLENDING
Like Paint, the
RED Pigment
“MIXES” with the
WHITE to create
PINK-FLOWERED
offspring
INCOMPLETE DOMINANCE CAN BE SEEN IN:

Horses ( Chestnut x Cremello

 Palomino)

Snapdragons

Japanese Four O’ Clocks

Many flowers exhibit

incomplete dominance
Fruit color in eggplant is
inherited as an incompletely
dominant trait
ALLELE NOTATION
HOW DO YOU WRITE OUT THE
GENOTYPE WHEN BOTH ALLELES
ARE DOMINANT?
YOU MUST USE DIFFERENT LETTERS

Choose different letters to represent each form (In this

case we’ll use “W” for the white allele and “R” for the
Red allele).

Remember to always use CAPITAL letters. This is

incomplete DOMINANCE.
SO…THE CROSS BETWEEN PURE SNAPDRAGONS
LOOKS LIKE THIS
R R

W RW RW

W RW RW
YOU’VE SEEN A CROSS BETWEEN PURE
SNAPDRAGONS, NOW DO THE PUNNET SQUARE FOR A
CROSS BETWEEN TWO HYBRIDS (HETEROZYGOTES).

What are the alleles of a heterozygous snapdragon?

• RW

What is the genotypic ratio?

• 1 RR : 2 RW : 1 WW

What is the phenotypic ratio?

• 1 Red : 2 Pink : 1 White
WHAT KIND OF GENETICS DO THESE
ORGANISMS EXHIBIT?
 A cross between 2 tabbies (the
CODOMINANCE heterozygotes) results in
1 black : 2 tabbies : 1 tan cat

The same ratios as

Incomplete Dominance
occur:
A ratio of 1:2:1 for both
genotype and phenotypes
of a monohybrid cross

Different Phenotype:
The two original
phenotypes are combined
to give a SPOTTED or
MULTICOLORED
phenotype.
NOTATION FOR CODOMINANCE

1. Choose a letter to represent the gene.

2. Choose different letters to represent each of
the alleles.
3. Take the letters representing the alleles and
turn them into superscripts.
4. Combine the two. Remember to use capital
letters.
WRITING OUT THE GENOTYPE
1. We’re going to use C to represent Coat Color of a
shorthorn cow.
2. Roan coat color is a combination of Red and White hair
so we’ll use “R” to represent Red and “W” to represent
white.
3. R  R and W  W

4. C + R  CR and C + W  CW
5. So a Red Cow would be CRCR , a white cow would be
CWCW, and a roan cow would be CRCW
CODOMINANCE OCCURS IN:

Shorthorn Cow (White + Red)

Blue Roosters (White + Black)

Human Blood Typing (AB)

Tabby Cats (Black and Tan Fur)

LET’S PRACTICE
Tabby cats exhibit codominance between tan and black
fur.
1. Can Tan Cat be heterozygous? Why or Why not?
2. If you mate a tabby with a black cat, what is the
phenotypic ratio of their offspring?
3. If the offspring of two cats are composed of 36
tabbies and 40 black cats, what are the parental
phenotypes and genotypes?
BLOOD TYPING

Human blood typing is an

example of both CODOMINANCE
and MULTIPLE ALLELES

What does Multiple Alleles Mean?

THE ALLELES

A and B blood types are coded for by the alleles:

IA and IB respectively. These two alleles are
CODOMINANT.

Blood type O is coded for by the allele i and is

recessive to both IA and IB (notice the lower case
letter).
ALLELES
AND
THEIR
BLOOD
TYPES
LET’S PRACTICE
Could a man with AB blood have an AB child with a
woman with type O blood?
If a child has type B blood, what are all the possible
blood types for his/her parents?
A paternity test is being performed. The child has
type A blood. The mother is type A. Potential Dad #1
has type B blood. Potential Dad #2 has type O blood.
Who is the father?
Challenge: What two parents could produce the most
diverse children as far as blood type is concerned?
PUNNETT SQUARE – BLOOD GROUPS:
Show a cross between a person who has
heterozygous A type blood & a person who has
homozygous B type blood.

Genotypes:

Phenotypes:
58
Rh COMPATIBILITY
Landsteiner (blood typing pioneer)

Antisera against monkey (Rhesus macacca)

Rh-factor
• Rh+ = RR or Rr
• Rh- = rr

Rh- mother and Rh+ father

Erythroblastosis fetalis
• Serious anemia or breakdown of RBC among newly born fetuses
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Rh COMPATIBILITY

An Rh negative person is born without the antigen and does not form
antibodies unless he or she is specifically sensitized to it.

Sensitization can occur with RBC transfusions from an Rh positive person or

exposure during pregnancy and birth.

An Rh positive person can receive an RBC transfusion from an Rh negative

donor.

Rh negative people MUST NEVER receive Rh positive blood.

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61
Rh COMPATIBILITY

62
 PREVENTION
It is important to immunize Rh-negative
mothers after their first pregnancy to
guard against future Rh incompatibility
reactions.

Immediately after childbirth, anti-Rh

antibody (RhoGAM) is injected in the
mother (also known as antibody D).

Immunization must be repeated after

each pregnancy, including ectopic
pregnancies and miscarriages.

63
MULTIPLE ALLELES:
DUCK FEATHER PATTERNS
Three alleles determine the type of plumage
in mallard ducks:

MR (Restricted) > M (Mallard) > md (Dusky)

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 MULTIPLE ALLELES:
COAT COLOUR IN RABBITS
Four phenotypes and four alleles:

Allelic series is C > cch > ch > c (which is most dominant)

Coat Color Phenotype Genotype

Full Color CC, Ccch, Cch, Cc
Chinchilla cchcch, cchch, cchc
Himalayan chch, chc
Albino cc

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 LETHAL GENES:

Some genes are lethal when present in the homozygous

condition (dominant or recessive)
• Ex. In chickens, when an embryo contains two copies of the recessive
gene known as creeper, the embryo dies inside the eggshell.
• Chicks that are heterozygous for the gene survive
• Ex. In mice, yellow coat colour is dominant to grey
• Mice that have YY (pure yellow) coat colour do not survive

66
EXAMPLE WITH MOUSE COAT COLOUR
Yellow is dominant to grey
Cross hybrid yellow mice Yy x Yy

Resulting offspring:
2 yellow to 1 grey
One genotype is missing

Somehow the YY genotype is lethal

The 2:1 ratio is the typical ratio for a lethal gene.
67
 ANSWERS TO SAMPLES:

A •child’s phenotype is O, the genotype must be ii

(recessive)
•father (A) and mother (B) must both carry the
recessive allele
B •Father’s genotype IAi and mother’s genotype IBi

C Chance of having
an AB type baby is
25%
68
a) The offspring occur in three types, classified as long, round and oval
(intermediate), suggesting incomplete dominance
• Long (L) Round (L’) Oval (LL’) - heterozygous

Test this idea…. LL’ x LL’ Gives a ratio of 1 long to 2 oval to 1

round radishes.
b) (LL x LL), all the offspring will be
long.
c) (L’L’ x L’L’), all the offspring will be
round.

69
A) Since ¼ of the eggs don’t hatch – lethal gene
Crested (C) and non-crested (c) then both parents would have to be
Cc ( eg. Cc x Cc)
All the eggs with CC genotype would
not hatch
Viable offspring would hatch in a ratio
of 2 crested to 1 non-crested

B) Cc x cc

Ratio: 1Cc to 1 cc
1 crested to 1 non 70
A)
Bull’s genotype RR, Cow’s genotype R’R’
B)
RR’ x R’R’

All of the offspring have RR’

genotype and will be roan Ratio of 2 roan to 2 white calves 71
 Red-green colourblindness

Hemophilia

Duchenne muscular dystrophy

SEX DETERMINATION & SEX-

LINKED TRAITS
72
WHAT IS THE DIFFERENCE BETWEEN AN
AUTOSOME AND A SEX-CHROMOSOME?

Autosomes are the first 22

homologous pairs of human
chromosomes that do not
influence the sex of an individual.

Sex Chromosomes are the 23rd

pair of chromosomes that
determine the sex of an individual

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SEX CHROMOSOMES:

Which is male?… female?

What is the genotype of each sex?
Which parent determines the sex of the offspring?
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SEX DETERMINATION:
How many chromosomes do humans have?

How many of these are “sex” chromosomes?

Which parent determines the sex of an offspring?

Are there any traits/conditions that are more common in one

sex than the other?
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Sex linked • The gene (pair) that determines a
character (e.g. hemophilia) is located on
trait the sex chromosomes

X-linked • A sex-linked trait is where the gene or

allele for the trait is found on the X
trait chromosome

Y-linked • A sex-linked trait where the gene or

allele for the trait is found on the Y-
trait chromosome

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SEX-LINKED TRAITS

Traits (genes) located on the sex chromosomes

Sex chromosomes are X and Y

XX genotype for females

XY genotype for males

Many sex-linked traits carried on X chromosome

77
SEX-LINKED TRAITS
Example: Eye color in fruit flies
Sex Chromosomes

fruit fly
eye color

XX chromosome - female Xy chromosome - male

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SEX-LINKED TRAIT PROBLEM
Example: Eye color in fruit flies
(red-eyed male) x (white-eyed female)
X RY x X r Xr

Remember: the Y chromosome in males

does not carry traits. Xr Xr
RR = red eyed
Rr = red eyed XR
rr = white eyed
XY = male Y
XX = female 79
SEX-LINKED TRAIT PROBLEM
Example: Eye color in fruit flies
(red-eyed male) x (white-eyed female)
X RY x XrXr

Remember: the Y chromosome in males

does not carry traits. Xr Xr
RR = red eyed
Rr = red eyed XR
rr = white eyed
XY = male Y
XX = female
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SEX-LINKED TRAIT SOLUTION:

Xr Xr
50% red eyed
XR XR Xr XR Xr
female
50% white eyed
Y Xr Y Xr Y male

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FEMALE CARRIERS

82
QUESTION: IS IT POSSIBLE FOR A
FEMALE CARRIER OF HEMOPHILIA
TO HAVE A DAUGHTER WITH
HEMOPHILIA?
XH Xh
Xh XH Xh XhXh

Y XH Y Xh Y

83
Color blindness
• An X-linked recessive trait where a affected individual could not
distinguish red from green color (red green color blindness)

Hemophilia
• An X-linked recessive trait where an affected individual suffers from
delayed blood clotting during injuries because of the absence of
certain blood clotting factors

Hypertrichosis pinnae auris

• A Y-linked trait where affected males have hair growing from their
external ears
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85
COLOURBLINDNESS SELF TEST:
Can you see the hidden numbers?

NUMBERS: 5 | 8 | 9 | 5 | 3 | 5 | 9 | 10 | 86
HIDDEN SHAPES:

SHAPES:
Plate 1 - Circle and arch
Plate 2 - Circle, star and square 87
SEX-LINKED TRAITS:
•Some genes are found on the sex chromosomes
•Some are found on the X sex chromosome but not the Y
Ex – the colour vision gene is on the X chromosome
- NOT FOUND ON THE “Y”

Sex-linked traits are RECESSIVE (mostly) traits

that are found on the ‘x’ sex chromosome
88
A human pedigree of the X-linked color-blindness trait.

The photograph is of an Ishihara color-blindness chart, which tests for red–green color blindness.

Red–green color-blind individuals see a 3 rather than the 8 visualized by those with normal color
vision.
89
HYPERTRICHOSIS – HUMAN WEREWOLF SYNDROME:
Congenital generalized
hypertrichosis (CGH)
Rare, X-linked dominant trait
Found in a single multigenerational
Mexican family

90
Red-green colorblindness is a recessive sex-linked trait, found on the X chromosome, not the Y.

Males only have one X chromosome, they have a much greater chance of having red-green colorblindness.

Females would have to be homozygous recessive in order to have red-green colorblindness.

91
Calico cat

92
HUMAN X-LINKED TRAITS

93
WRITING SEX-LINKED GENOTYPES:
MORE PRACTICE:
 Inhumans the gene from normal blood
clotting, H, is dominate to the gene for
hemophilia, h. This is a sex-linked trait found
on the X chromosome. Serena with normal
blood clotting has four children. They are a
normal son, a hemophiliac son, and two normal
daughters. The father, Simon has normal blood
clotting. What is the probable genotype for
each member of the family?
95
ANOTHER ONE….
John Lloyd with normal vision
marries Bea who is a carrier for color
blindness. What are the possible
genotypes and phenotypes of their
children.

96
JUST ONE MORE….

A hemophiliac man, Rudy marries

Lenny who is a carrier for the
disease. What are the possible
genotypes and phenotypes of their
children? Should they even
consider having children?
97
OTHER SEX-RELATED TRAITS

98
Sex influenced characteristics
•are determined by autosomal
genes and are inherited according
to Mendel’s principles, but they are
expressed differently in males and
females
99
100
PATTERN BALDNESS IS A SEX-INFLUENCED TRAIT

This trait is seen in three generations of the Adams family: a) John Adams, 2nd President
of USA, was father to b) John Quincy Adams, who was father to c) Charles Francis Adams

Pattern baldness reults from an autosomal gene that is thought to be dominant in males
and recessive in females 101
PATTERN BALDNESS

102
Sex- Limited Characteristics
•extreme form of sex-influenced
inheritance, a sex limited characteristic
is encoded by autosomal genes that are
expressed in only one sex—the trait
has zero penetrance in the other sex

103
Example: Cock feathering in
chickens, an autosomal recessive
trait that is limited to males

104
GENE INTERACTION
105
When more than one gene is studied simultaneously

Discontinuous variation
• When discrete phenotypic categories are produced that vary
from one another in a qualitative way

Continuous variation
• Phenotypic categories vary in a quantitative way
106
107
genes at two loci interact to
produce a single characteristic

Fruit color in the pepper

Capsicum annuum

108
a dominant allele R at the first locus produces a
red pigment;

the recessive allele r at this locus produces no

red pigment

A dominant allele C at the second locus causes

decomposition of the green pigment chlorophyll;

the recessive allele c allows chlorophyll to

persist
109
A CHICKEN’S COMB IS DETERMINED BY
GENE INTERACTION BETWEEN TWO LOCI

WALNUT (R_P_) • dominant allele at each of the two loci

ROSE (R_pp) • dominant allele only at the first locus

PEA (rrP_) • dominant allele only at the second locus

SINGLE (rrpp) • only recessive alleles at both loci

110
111
NEW PROBLEM:

Cross these two parents below and give me the

phenotypic ratios of their F1's.
RrPP x Rrpp

112
Epistasis is a form of gene interaction in which one gene masks
the phenotypic expression of another gene at a different locus.

similar to dominance, except that dominance entails the

masking of genes at the same locus (allelic genes)

There are no new phenotypes produced by this type of gene

interaction.

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EPISTATIC VERSUS HYPOSTATIC

epistatic •alleles that are masking

alleles the effect

hypostatic •alleles whose effect is

alleles being masked

114
HOW DO WE SOLVE EPISTATIC PROBLEMS?

We are dealing with polygenic traits as in the previous

section, however we now have one pair of alleles
masking the other.

This means we will still be using dihybrid crosses!

115
RECESSIVE OR DOMINANT?

Epistasis can be described as either

recessive epistasis or dominant epistasis.

Let’s look at an example of recessive

epistasis….

116
LABRADOR RETRIEVERS

Fur color in Labrador Retrievers is controlled by two

separate genes.
 Fur color is a polygenic trait!

Gene 1: Represented by B
: Controls color

Gene 2: Represented by E
: Controls expression of B

117
LABRADOR RETRIEVERS
If a Labrador retriever has
a dominant B allele, they
will have black fur.

If they have two recessive

alleles (bb) they will have
brown fur.
118
LABRADOR RETRIEVERS
If a retriever receives at least one dominant “E”
allele, they will remain the color that the “B” allele
coded for.
• Either black of brown

However, if a dog receives a pair of homozygous

recessive “e” alleles, they will be golden regardless
of their “B” alleles!
119
LABRADOR RETRIEVERS

BBEE/BbEe •Black retrievers

bbEE/bbEe •Brown retrievers

Bbee/Bbee/bbee •Golden retrievers

120
121
TRY THIS CROSS…
You have decided to cross your golden retriever (bbee) with the
neighbor’s chocolate retriever (bbEe). What color pups will they have?

122
bbee X bbEe
FOIL: be
FOIL: bE or be

Genotypes of F1 generation:
bbEe and bbee

Pups phenotypes:
Brown and golden 123
Cross these parents below and give me the phenotypic
ratios of their F1s.
Problem 1. EeBb x eebb
Problem 2. eeBb x Eebb

Answers
Prob 1. pr is 1/4 black:1/4 choclate:2/4 yellow
Prob 2. pr is 1/4 black:1/4 choclate:2/4 yellow
124
Squash fruit color is controlled by two genes.

Gene 1 is represented by a W

Gene 2 is represented by a G

Allele W is epistatic to G and g—it suppresses the expression of these

pigment-producing genes.

W is a dominant epistatic allele because, in contrast with e in Labrador

retriever coat color, a single copy of the allele is sufficient to inhibit pigment
production 125
SQUASH FRUIT COLOR
Genotypes and Phenotypes:

W_/G_ • white

W_/gg • white

ww/G_ • green

ww/gg • yellow
126
SQUASH FRUIT COLOR
Which allele is epistatic in squash color?

The dominant W allele is epistasis

How do you know?

Because every time a dominant W allele

shows up in a squash genotype, the squash
fruit color is white.

127
TRY THIS CROSS….
Cross a green squash (wwGg) with a white squash (Wwgg).

What color are the offspring?

128
wwGg X Wwgg

FOIL: Wg or wg
FOIL: wG or wg

F1 generation genotypes:

Phenotypes:

129
130
WITH ALBINISM REGARDLESS OF WHAT KIND OF SKIN COLOR
YOU SHOULD HAVE, IF YOU HAVE THE EPISTATIC ALLELES
FOR ALBINISM THEN YOU WILL BE AN ALBINO.

131
PIGMNENT is produced in a two-step pathway in snails.

132
MODIFIED DIHYBRID MENDELIAN RATIOS

133
SUMMER SQUASH EXHIBITING VARIOUS
FRUIT-SHAPE PHENOTYPES

134
MODIFIED DIHYBRID MENDELIAN RATIOS

1. Duplicate Recessive (9:7)

•Recesssive at one either locus masks the expression of
the dominant phenotype at the other locus.

2. Single Recessive (9:3:4)

•Recessive Trait at one locus masks the effect of the
second locus.
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MODIFIED DIHYBRID MENDELIAN RATIOS
3. Duplicate Dominant (15:1)
• The dominant trait at either locus will expression one phenotype, the other phenotype is
homozygous at both loci.

4. Single Dominant (12:3:1)

• Dominant trait at one locus masks the expression of the second locus.

5. Dominant ´ Recessive (9:6:1)

• Duplicate effects from the two loci.
• The phenotypes are:
• Two dominant
• One dominant
• None dominant.
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137
ADDITIONAL PATTERNS OF INHERITANCE THAT DEVIATE
FROM A MENDELIAN PATTERN INCLUDE:

Maternal effect and epigenetic inheritance

•Involve genes in the nucleus

Extranuclear inheritance
•Involves genes in organelles other than the nucleus
•Mitochondria
•Chloroplasts
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MATERNAL EFFECT

Maternal effect refers to an inheritance pattern for certain nuclear genes in which
the genotype of the mother directly determines the phenotype of her offspring
• Surprisingly, the genotypes of the father and offspring themselves do not affect the phenotype of
the offspring

This phenomenon is due to the accumulation of gene products that the mother
provides to her developing eggs

The phenotype of the progeny is determined by the mother’s genotype NOT

phenotype
• The genotypes of the father and offspring do not affect the phenotype of the offspring

139
MATERNAL INHERITANCE IN THE FOUR-
O’CLOCK PLANT
Carl Correns discovered that pigmentation in Mirabilis jalapa (the four
o’clock plant) shows a non-Mendelian pattern of inheritance

Leaves could be green, white or variegated (with both green and white
sectors)

Correns determined that the pigmentation of the offspring depended solely

on the maternal parent and not at all on the paternal parent

This is termed maternal inheritance

140
141
Crosses for leaf type
in four o’clock
illustrate cytoplasmic
inheritance

142
the phenotype of the offspring is determined by the
genotype of the mother

the genes are inherited from both parents, but the

offspring’s phenotype is determined not by its own
genotype but by the genotype of its mother

143
In genetic maternal effect, the genotype of the
maternal parent determines the phenotype of
the offspring.

Shell coiling in snails is a trait that exhibits

genetic maternal effect.
144
SEX INFLUENCES
ON HEREDITY

145
 GENETIC BACKGROUND AND
THE ENVIRONMENT MAY ALTER
PHENOTYPIC EXPRESSION
146
 PENETRANCE AND EXPRESSIVITY
penetrance
• percentage of individuals that show at least some degree of expression of a
mutant genotype
• Ex. If 15 percent of flies with a given mutant genotype show the wild-type
appearance, the mutant gene is said to have a penetrance of 85 percent.

expressivity
• reflects the range of expression of the mutant genotype.
• Ex. Flies homozygous for the recessive mutant gene eyeless exhibit phenotypes
that range from the presence of normal eyes to a partial reduction in size to the
complete absence of one or both eyes
147
Variable expressivity as shown
in flies homozygous for the
eyeless mutation in Drosophila.

Gradations in phenotype range

from wild type to partial
reduction to eyeless.

148
GENETIC BACKGROUND: POSITION
EFFECTS

POSITION EFFECT
• the physical location of a gene in relation to other
genetic material may influence its expression
• Ex. if a region of a chromosome is relocated or
rearranged (called a translocation or inversion
event), normal expression of genes in that
chromosomal region may be modified
149
Position effect, as illustrated in the eye
phenotype in two female Drosophila
heterozygous for the gene white.

(a) Normal dominant phenotype

showing brick-red eye color.

(b) Variegated color of an eye caused by

translocation of the white gene to
another location in the genome.

150
ENVIRONMENTAL INFLUENCES ON
GENE EXPRESSION
External environmental factors play an important role in modifying the
phenotype coded by genes, both in embryonic development and in later life.

GENOTYPE

• Provides an organisms with its genetic potential- a possible phenotype.

ENVIRONMENTAL FACTORS
• Act on organism as it grows to produce an individual with a unique phenotype.

NOTE: Even identical twins have minor differences in their appearance due to
factors such as diet.
151
ENVIRONMENTAL FACTORS INCLUDE
SUCH VARIABLES AS:
WIND EXPOSURE

WATER AVAILABILITY

ACIDITY

TEMPERATURE

SOIL TYPE

LIGHT

PREDATION
152
153
TEMPERATURE EFFECTS ON PHENOTYPE

Chemical activity depends on the kinetic

energy of the reacting substances, which in
turn depends on the surrounding
temperature.

Example: Evening primrose

produces red flowers when grown at 23°C and
white flowers when grown at 18°C

154
SEX DETERMINATION
The sex of some animals is determined by the temperature at which they
were incubated during embryonic development

EXAMPLE: crocodiles, American alligators, and turtles

In some species:

• - high incubation temperature produce males

• - low incubation temperatures produce females
• - in some species the opposite is true

155
 COLOR POINTING
Some breeds of cat and rabbit have
distinctive darker fur on the extremities
(called pointing)

Pigment production is controlled by a

temperature sensitive enzyme and only
the extremities are cool enough to allow
the enzyme to dunction

EXAMPLE: Siamese cats,

Himalayan rabbits
156
 ALTITUDE EFFECTS ON PHENOTYPE

Plants of the same species produce a smaller or

stunted phenotype with higher altitude.

Such patterns are observable in vegetation

growing on mountainsides.

This may be due to the combined effects of:

•1. Wind exposure

•2. Cooler temperatures
•3. Water availability
•4. Rarified atmosphere (low oxygen)
157
 EFFECTS OF OTHER ORGANISMS ON
PHENOTYPES

PREDATION

• The activity orpresence

of predators may cause
a permanent change in
the phenotype of prey.
• EXAMPLE: Body shapes
in Daphnia

158
 EFFECTS OF OTHER ORGANISMS ON
PHENOTYPES
SEX DETERMINATION

The presence of other members of the same species may

control the determination of sex in other individuals of the
group.

EXAMPLE: Sandaggers wrasse (parrotfish)

•1. These fish live in groups comprising females and juveniles with a
single male.
•2. In the presence of the male, all juvenile fish of this species grow
into females.
•3. When the male dies, the dominant female will change her sex to
become a male for the group.
159
NUTRITIONAL EFFECTS

Auxotroph
• In microorganisms, mutations that prevent synthesis of nutrient
molecules are quite common, such as when an enzyme essential
to a biosynthetic pathway becomes inactive

EXAMPLE: bread mold Neurospora

• If can no longer synthesize the amino acid leucine, proteins
cannot be synthesized
• If leucine is present in the growth medium, the detrimental effect
is overcome. 160
NUTRITIONAL EFFECTS
phenylketonuria • Cannot metabolize the amino acid phenylalanine

galactosemia • Cannot metabolize galactos

lactose intolerance • Cannot metabolize lactose

If the dietary intake of the involved molecule is drastically reduced or

eliminated, the associated phenotype may be ameliorated
161
LIGHT EFFECTS

1. Plants of the same species will adopt different

growing behaviors when the light varies.

2. Most plants will grow abnormally long stems and

lack pigmentation if grown in low light levels.

3. Human skin will tan (become browner) when

exposed to direct sunlight over a period of time.

162
 ACIDITY EFFECTS

The color of some flowers is

determined by the pH of the soil
they grow in.

EXAMPLE: Flower color in

hydrangeas

• Acid soil – pink flowers

• Alkaline soil – blue flowers
163
CHEMICAL EFFECTS

The tragic instances of babies born

with deformities caused by women
taking drugs during pregnancy.

EXAMPLE: thalidomide
• The sedative drug caused improper
development of the fetus leading to
abnormally stunted limbs.

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165