Gene Interaction

Color Variants In Chicken

1902, Bateson Dominant white color in
chicken
Is determined by gene I,
___________________________________
___________________ to wild type allele I
Third allele Smoky gives a grayish
phenotype, recessive to Dominant white

Modifications of Dihybrid Cross

Gene interaction
Production of a new ___________________
Epistasis, stand above one gene
_______________________ the effect of
another gene (epistatic vs hypostatic)
Two gene pairs can complement one another
at least one _______________________ at
each locus is required to express a particular
phenotype

Gene Interaction
Production of new phenotypes

Comb Shape In Chicken

P: rose x single
F1: rose pea
F2:
P: rose x pea
F1: walnut
F2:

pea x single

Fruit Shape in Squash

P: long x long
F1: long

P: sphere x sphere
F1: disk
F2:

Parental genotypes for the sphere cross:

Epistasis
Interaction between two or more
genes to control a single phenotype.
One gene can mask the phenotypic
expression of another
_____________________________

Mechanisms of Epistasis
aa masks B ____________________
A- masks B- - ___________________
A gene that masks epistatic
A gene that is masked - hypostatic

Recessive Epistasis
A-bb and aabb have the
__________________
F2 ratio: ______________________

Coat Color In Rodents

wild type agouti (hair in fur have
alternating bands of black and yellow)
albino white mice
agouti > black> albino

Coat Color In Rodents

P: agouti x albino
AACC x aacc
F1: agouti
AaCc
F2: 9 agouti: 3 black: 4 albino
Presence of cc will always result in ________

 A cross between two black mice that are

heterozygous (BbCc) will follow the law of
independent assortment.
However, unlike the
9:3:3:1 offspring ratio
of an normal Mendelian
experiment, the ratio is
nine black, three brown,
and four white.

Fig.14.11
Copyright2002PearsonEducation,Inc.,publishingasBenjaminCummings

Coat color in mice:

A- - agouti; aa non-agouti
B- - black, bb brown
non-Mendelian 9:3:4 ratio of phenotypes.
Recessive
AB Ab aB ab
epistasis
AB
Ab
aB
ab

Coat Color In Rodents

Actually, three genes:
C allows pigment formation
cc prevent pigment formation
A agouti
aa non-agouti
B black pigment
bb brown pigment
Previous cross: _____________________

Coat color in mice: biochemical

basis
Gene B
Precursor

Gene A
black pigment

B-

agouti
A-

Coat Color In Labradors

B black pigment
bb brown pigment
E allows color (___________________)
ee does not allow color ( ______________)
yellow
B-E- black
bbE- brown
-- ee yellow (B-ee dark nose and lips)

Coat Color In Labradors

P: BBEE x bbee
F1:
F2: 9 black : 3 brown : 4 yellow

Coat Color In Mammals

The A gene agouti, band of yellow on the hair
shaft; (AY, At black and tan); aa solid
The B gene

B agouti with A;
with aa solid black.
A-bb cinnamon or brown;
aaB- - solid black;
aabb solid brown

The C gene C allele ___________; cc prevents

color epistatic to other color genes

Coat Color In Mammals

The D gene modifier gene; controls the
intensity of pigment specified by other color
genes
D- permits full color
Dd dilute color to milky appearance

The S gene presence and absence of spots

S- - no spots; ss - spots

Dominant Epistasis
A-B- and A-bb have the same phenotype
F2 ratio is _____________________

Fruit Color Of Summer Squash

White, yellow, green
P: White x yellow

white x green

F1: white
white
White > yellow > green
W- white (W-Y-; W-yy)
ww allow color
Y-ww _______________
yyww - ________________

yellow x green

yellow

Epistasis Involving Duplicate Genes

Sweat pea
Purple x white purple- 3:1 purple:white
White x whitewhite
White x white all purple ________________
C allows color
cc _______________
P purple
pp ________________
Duplicate recessive epistasis or complementary gene action

9:7 Ratio (Complementary Gene Action)

Example: Flower color in sweet pea
Enzyme Pathway

Precursor

Gene C

Gene P

Enzyme C

Enzyme P
Intermediate

Anthocyanin

The Cross And The Results

Parental Cross Colored flowers (CCPP) x White flowers (ccpp)

F1

Colored Flowers

F2

9 Colored Flowers:7 Flowers

The Genotypes And Their Respective

Phenotypes

Genoty Flower color

Enzyme activities
pe
9 C_P_ Flowers colored; anthocyanin functional enzymes from
produced
both genes
3 C_pp Flowers white; no anthocyanin p enzyme non-functional
produced
3 ccP_ Flowers white; no anthocyanin c enzyme non-functional
produced
1 ccpp Flowers white; no anthocyanin c and p enzymes nonproduced
functional
Because both genes are required for the correct phenotype, this epistatic
interaction is called complementary gene action.

Duplicate Dominant Epistasis

Shepherd purse plant fruit shape
Heart shaped and narrow
Heart x heart heart
Narrow x narrow narrow
Heart x narrow heart 15 heart: 1 narrow
________________________ - heart
Aabb - narrow

Modified Dihybrid Mendelian Ratios

Produced By Gene Interaction

How do genes interact?

Most often genes are part of complex
biological pathways that rely on multiple
enzymatic steps.
Each enzyme is encoded by a separate gene,
so the final output is dependent on the
entire collection.

Epistasis
When a _____________ is controlled by more
than one gene epistasis may result
Understanding biochemical pathways helps us
understand epistasis

A
C

1
2

B
D

Epistasis
1
2
A
B
C

Imagine that this pathway produces a red pigment,

C, in flowers and that A is a colorless precursor
and B is a yellow intermediate

X
1

If the gene for enzyme 1 was knocked out, the

flower would be colorless

Epistasis
1
2
A
B
C

Imagine that this pathway produces a red pigment,

C, in flowers and that A is a colorless precursor
and B is a yellow intermediate

X
2

If the gene for enzyme 1 was knocked out, the

flower would be colorless
If the gene for enzyme 2 was knocked out, the
flowers would be yellow

Epistasis
1
2
A
B
C

If both genes were knocked out, the flowers would

be colorless

X
1

X
2

Because enzymes can catalyze many reactions in a short

period of time, the presence of just one copy of a gene is
typically enough to mask the absence of a bad copy
Thus an individual heterozygous for enzyme 1 could still
produce intermediate product B

Gene Interaction
Eye color in Drosophila one character,
eye color, 9:3:3:1 ratio
P: brown x scarlet; F1 red (wild type); F2:
b+c+

b+c

bc+

bc

b+c+

wild

wild

wild

wild

b+c

wild

scarlet wild

bc+

wild

wild

bc

wild

scarlet brown white

scarlet

brown brown

Eye color in Drosophila

biochemical basis
Pigments drosopterin (red) and
xanthommatin (brown)
Brown eye bb - drosopterin pathway is
interrupted
Scarlet eye cc xanthommatin pathway is
interrupted
Double recessive bbcc -?

Key Points
___________________ may influence a trait
Allele is epistatic to allele of another gene if it has
an overriding effect _____________________
A gene is pleiotropic if it can influence many
____________________________________
The ratio of dihybrid cross may change, but total
number of classes _________, can be explained by
Mendel rules

Other factors Influencing

Phenotypes
Environmental factors, expressivity,
penetrance

Temperature effects
Mutations that are effected by temperature are
called
________________________________________
_____________________ ( restrictive/permissive
temperatures)
Heat-shock genes only activated under elevated
temperatures, responsible for producing a group of
proteins with protective function

Nutritional Effects
Nutritional mutations
Microorganisms:
Prototrophs
Auxotrophs

Humans:
Phenylketonuria, lactose intolerance,
galactosemia

Phenylketonuria
PKU is determined by a mutant allele that
produce nonfunctional enzyme inability to
utilize amino acid phenylalanine
Children with mutation die in early age
Can be easily detected by the presence of
abnormal enzyme
Diet will allow to grow and function
normally

 The product of a genotype is generally not a

rigidly defined phenotype, but a range of
phenotypic possibilities, the
________________, that are determined by the
environment.
In some cases the norm of reaction has no breadth
(for example, blood type).

Norms of reactions are broadest for polygenic

characters.
For these multifactorial
characters, environment
contributes to their
quantitative nature.
Copyright2002PearsonEducation,Inc.,publishingasBenjaminCummings

Penetrance and Expressivity

Penetrance
______________________________ that
show at least some degree of a mutant
phenotype
Expressivity _____________________
Genetic background presence of supressor
genes; position effect

PENETRANCE
the proportion of individuals with a specific
genotype who manifest that genotype at the
phenotypic level.

Penetrance = 1.0 (100%) when all homozygous recessive individuals express

the recessive form of the allele, and all homozygous dominant individuals and
heterozygous individuals express the alternate form of the allele.
Penetrance < 1.0 if *not* all homozygous recessive individuals express the
recessive allele.
EXAMPLES:
Brachydactyly (short digits) in humans
Neurofibromatosis in humans (disease causes tumor-like growths to appear all
over the surface of the body, if it is fully expressed).

EXPRESSIVITY
is _____________ to which a particular
genotype is expressed in the phenotype of a
particular individual.
EXAMPLES:
Polydactyly
Piebald spotting in beagles: dogs who have the
same genotype for the piebald locus often
express various patterns and total coverage of
white fur patches

Heritability
Proportion of total phenotypic variation in a
population due to genetic factors
VP genotypic variation
VE environmental variance
Broad sense heritability H2= VG/VP
Heritability values range from 0 to 1.

Polygenic Inheritance

Polygenic Inheritance
Continuous variation vs discontinuous
variation
Quantitative traits
Multiple factor or multiple gene hypothesis
_____________, each individually
behaving in Mendelian fashion, contribute
to the phenotype in a cumulative or
quantitative way ( additive alleles)

 A cross between two AaBbCc individuals

(intermediate skin shade) would produce
offspring covering a wide range of shades.
Individuals with
intermediate skin shades
would be the most likely
offspring, but very light
and very dark individuals
are possible as well.
The range of phenotypes
forms a normal
distribution.

Copyright2002PearsonEducation,Inc.,publishingasBenjaminCummings

Polygenic Inheritance
The formula that predicts the number of genotypes
from the number of genes is 3n (n is the number of
genes.)
The following is the number of genotypes for a selected
number (n) of genes which control an arbitrary trait.
# of Genes # of Genotypes
1
3
2

243

10

59,049

Dogs Height Explained

Everything you know is wrong
The researchers analyzed Portuguese water
dog DNA and found a single gene what
is called a master regulator that seems to
account for a big part of the size difference.
Small Portuguese water dogs had one
haplotype, while larger Portuguese water
dogs had different haplotype.
The other small breeds had the same
variant of the gene (haplotype), while big
dogs had different variants (SNPs).

Definition of a Haplotype
Haplotype is a set of single nucleotide
polymorphisms (SNPs) on a single chromosome
that are statistically associated.
It is thought that these associations, and the
identification of a few alleles of a haplotype block,
can unambiguously identify all other polymorphic
sites in its region.
Such information is very valuable for investigating
the genetics behind common diseases, and is
collected by the International HapMap Project

Human Height
Scientists have identified a gene that is partly responsible
for determining how tall a person is.
The slightest change in the DNA of the gene can determine
if a person will be taller or shorter. Hundreds of other
genes found in the body are likely to contribute to a
person's height, or lack there of.
In finding the gene, researchers studied more than 5000
people's DNA, most of which from a European descent.
They located the gene, referred to as HMGA2 as well as
the fact that the slightest change in the make up of the gene
can make the difference of a centimeter of height

HMGA2
HMGA2 - high mobility group AT-hook 2
Function: architectural factor, non histone,
preferential binding to AT rich sequences in the
minor groove of DNA helix; the precise function
remains to be elucidated; probable role in
regulation of cell proliferation
Deletion of HMGIC in mutant mice or transgenic '
knock out' mice for the first two exons of HMGIC
have the "pigmy" phenotype: low birth weight,
craniofacial defects, adipocyte hypoplasia, adult
body weight about 40% of normal

Human Height
Height is a typical 'polygenic' trait. Finding one gene not
explain why one person will be 6ft 5ins and another only
4ft 10ins. This is just the first of many possibly as many
as several hundred that will be found. Even though
improved nutrition means that each generation is getting
successively taller, variation in height within a population
is almost entirely influenced by our genes."
An association between height and an increased risk of
developing certain diseases was also found.
There are associations between shortness and slightly
increased risks of conditions such as heart disease.
Similarly, tall people are more at risk from certain cancers
and possibly osteoporosis."

Eye Color Explained

There is no single gene for an eye color but the
biggest effect is OCA2 gene
This gene controls the amount of melanin produced
accounts for about 74% of total variation
OCA2 is influenced by other genetic components
expression of OCA2 is linked to three single
nucleotide polymorphisms (SNPs)
If it is TGT in all three locations, 62% of people are
blue- eyed; one TGT 21%, no TGT 7.5%