Non-Mendelian Genetics

Incomplete Dominance
Codominance
Lethal genes
Multiple Alleles
Polygenic Traits
Sex-Linked Traits
Epistatis
Pleiotropy
Incomplete Dominance
 a third (new) phenotype
appears in the heterozygous
condition as a BLEND of the
dominant and recessive
phenotypes. Ex - Dominant Red (R) + Recessive White
(r) = Hybrid Pink (Rr)

RR = red rr = white Rr = pink

 Problem:
Incomplete Dominance
 Show the cross between a pink and a white flower.

GENOTYPES: R r
- RR (0%)
Rr (50%) r
rr (50%)
Rr rr
- ratio 1:1
r Rr rr
PHENOTYPES:
- pink (50%); white (50%)
- ratio 1:1
 Codominance
 In the heterozygous condition, both alleles are expressed equally
with NO blending! Represented by using two DIFFERENT capital
letters.
 Example: Dominant Black (B) + Dominant White (W) = Speckled
Black and White Phenotype (BW)

 Sickle Cell Anemia -

NN = SS = sickle cells NS = some of

normal cells each
 Codominance Example:
Speckled Chickens

BB = black feathers

WW = white feathers
BW = black & white speckled feathers

Notice –
NO GRAY!
NO BLEND!
Each feather is
either black or white
Codominance Example: Rhodedendron

 R = allele for red flowers

 W = allele for white flowers
 Cross a homozygous red flower
with a homozygous white flower.
 Codominance Example:
Appaloosa horses

 Gray horses (GG) are codominant to white horses

(WW). The heterozygous horse (GW) is an Appaloosa
(a white horse with gray spots).
 Cross a white horse with an appaloosa horse.

W W

G GW GW

W WW WW
 Problem:
Codominance

Show the cross between an individual with

sickle-cell anemia and another who is a carrier
but not sick.
GENOTYPES: N S
- NS (50%) S
SS (50%) NS SS
- ratio 1:1
PHENOTYPES: S NS SS
- carrier (50%)
sick (50%)
- ratio 1:1
 MULTIPLE ALLELES

Genes that have more than two

alleles
 Combinations
• Di-allelic genes can generate 3 genotypes
AA, Aa and aa
• Genes with 3 alleles can generate 6 genotypes
• Genes with 4 alleles can generate 10 genotypes
• Genes with 8 alleles can generate 36 genotypes.
• Genes with n alleles can generate n(n+1)/2
genotypes.
 Rabbit Fur Colors
 Fur colors (determined by 4 alleles):
full, chinchilla, himalayan, albino
 The ABO blood system
• Controlled by a tri-allelic gene
• 6 genotypes

• The alleles for antigens on the surface of the red blood

cells
• Two of the alleles are codominant to one another and
both are dominant over the third

• Allele IA produces antigen A

• Allele IB produces antigen B
• Allele i produces no antigen.
 The ABO blood system
Genotypes Phenotypes (Blood types)
IA IA A
IA IB AB
IA i A
IB IB B
IBi B
ii O

Note:
• Blood types A and B have two possible genotypes –
homozygous and heterozygous
• Blood types AB and O only have one genotype each.
 Multiple Alleles:
Blood Types (A, B, AB, O)
 Allele Can Can
(antigen) Donate Receive
Possible on RBC Blood Blood
Phenotype Genotype(s) surface To From
IA i
A I A IA A A, AB A, O
I Bi
B IB IB B B, AB B, O
A, B,
AB IAIB AB AB AB, O
A, B,
O ii O AB, O O
 Problem:
Multiple Alleles
Show the cross between a mother who has type
O blood and a father who has type AB blood.
GENOTYPES:
- Ai (50%) i i
Bi (50%) A
- ratio 1:1 Ai Ai
PHENOTYPES: B
- type A (50%) Bi Bi
type B (50%)
- ratio 1:1
 Problem:
Multiple Alleles
 Show the cross between a mother who is heterozygous for type
B blood and a father who is heterozygous for type A blood.

GENOTYPES: A i
-AB (25%); Bi (25%);
Ai (25%); ii (25%) B AB Bi
- ratio 1:1:1:1

PHENOTYPES: i Ai ii
-type AB (25%); type B (25%)
type A (25%); type O (25%)
- ratio 1:1:1:1
Polygenic Traits
traits produced by
multiple genes
example: skin color
Polygenic inheritance of eye colour
 TWO TYPES OF TRAITS

Discrete or discontinuous traits: traits occur in distinct

Categories: Trait is there or it is not
(examples: albinism, cystic fibrosis, Huntington’s disease)
Mendelian inheritance, single genes, dominance,
recessiveness

Continuous traits: Distribution of phenotypes in the

population varies along a continuum. Individuals differ by
small degrees. i.e. Vary in amount (quantitative)
(examples: height, blood pressure, learning ability)
Polygenic quantitative or multifactorial inheritance.
Genes act additively.
• Humans have 23 pairs
of chromosomes.

• One pair of
chromosomes is
related to the sex of
an individual , these
chromosomes are
called sex
chromosomes
• The other 22 pairs of chromosomes are
called autosomes (1-22)
• In humans, the sex of an individual
depends on the presence or absence of
the Y chromosome
 
A normal human female is XX
A normal human male is XY
• Genes that are located on the X
chromosome are called sex-linked genes.
• Traits determined by sex-linked genes are
called sex-linked traits
 (c = colorblind, C = normal)

Ex. Color blindness

female Xc Xc
male Xc Y
• Sex linked traits are recessive, this means both x
chromosomes must have the gene in order for the
trait to be expressed.

• If only one x chromosome is present (in males) and has

the sex linked gene, then the trait will be expressed .

• In males, there is no second X chromosome to “mask” a

recessive gene. If they get an X with the disorder,
they have it. Girls must inherit defective X’s from
both parents.
• A carrier is a person that has the trait
on only one chromosome and does not
express the trait. Carriers of sex
linked traits are always women.
(C= normal, c= colorblind)

Ex. Color blind carrier XC Xc

• Hemophilia is
characterized by
uncontrolled bleeding
• It is a sex linked
disorder caused by
errors in the DNA that
codes for the proteins
involved in clotting
Sex-Linked Traits: Color blindness
A: 29, B: 45, C: --, D: 26
 Normal vision

A: 70, B: --, C: 5, D: --
 Red-green color blind

A: 70, B: --, C: 5, D: 6
 Red color blind

A: 70, B: --, C: 5, D: 2
 Green color blind
 Problem
• A colorblind male marries a normal female.
What are the offspring genotypes and
phenotypes?
(C = normal, c = colorblind)

Xc Y
XC
XC
 Problem

• A normal male (not colorblind) marries a

carrier. What are the offspring genotypes
and phenotypes?
XC Y
XC
Xc
 Lethal Alleles
Example: Manx cat
ML = tailless, lethal in homozygote
m = tail

Tailless male x Tailless female

 Gene interaction
Two types of gene interactions:
• Intra-allelic or Allelic interactions

• Inter-allelic or non-allelic interactions

1. Multiple genes control the same trait and by

their interactions produce a new phenotype.
(NON-EPISTATIC)

2. One or more genes suppress or mask the

expression of other genes and alter the
phenotype. (EPISTATIC)
 Non-Epistatic Interactions
• Supplementary interaction
- One gene modify the character determined by other gene.
e.g., Comb shape in chickens.

• Complementary interaction
– Both alleles when present together, complement each other and
produce new phenotypes.
e.g., Colored flowers in sweet pea
 Supplementary gene interactions

• Interaction of two dominant alleles (R & P), produces a third phenotype

(walnut),

• Multiple genes involved, and interaction of two dominant alleles (R & P)

produce factors that modify comb shape from a simple (rose/pea) to more
complex form (walnut).
Rose-comb R-/pp
Pea-comb rr/P-
Walnut-comb R-/P-
Single-comb rr/pp
Complementary gene interactions
 EPISTASIS

• Epistasis is a form of gene interaction in

which one gene masks the phenotypic
expression of another.

• There are no new phenotypes produced

by this type of gene interaction.
 Epistatic Vs Hypostatic

• The alleles that are masking the effect

are called epistatic alleles

• The alleles whose effect is being masked

are called the hypostatic alleles.
 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!
 Recessive or Dominant?
• Epistasis can be described as either recessive
epistasis or dominant epistasis.

– Dominant epistasis, A masks the effect of

B.

– Recessive epistasis, caused by recessive

alleles, aa masks the effect of B at another
locus.
Recessive Epistasis: 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
 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.
 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!
 Labrador Retrievers

• BBEE and BbEe --> Black retrievers

• bbEE and bbEe --> Brown retrievers
• BBee, Bbee, or bbee --> Golden retrievers
 Try this cross…
• You have decided to cross your golden
retriever (bbee) with the neighbor’s brown
retriever (bbEe). What color pups will they
have?
bbee x bbEe
 Dominant Epistasis

• Let’s have a look at dominant epistasis…

• Squash fruit color is controlled by two genes.

• Gene 1 is represented by a W

• Gene 2 is represented by a G
 Squash Fruit Color

• Genotypes and
Phenotypes:

• W-/G- white

• W-/gg white

• ww/G- green

• ww/gg yellow
 Squash Fruit Color
• Which allele is epistatic in squash color?

The dominant W allele is epistatic

• How do you know?

Because every time a dominant W allele

shows up in a squash genotype, the squash
fruit color is white.
 Try this cross….
• Cross a green squash (wwGg) with a white
squash (Wwgg).

• What color are the offspring?

 Pleiotropic Effects
• The ability of a gene to affect more than one
unrelated phenotypic traits.

Several characteristics are affected

B by the single gene

C
 Sickle cell
disease

Allele S S’
Gene Product Hemoglobin A Hemoglobin S
Cell Shape Round Sickled under
low O2 tension
Response to Susceptible Resistant in SS’
Malaria genotype
 PKU (phenylketonuria)
• The PKU gene codes for the enzyme phenylalanine
hydroxylase.
• This enzyme converts the phenylalanine to tyrosine.
Both are amino acids.
• Mutations to the gene result in:
– Mental retardation
– Reduced hair and skin pigmentation
– Damage to body parts from toxic levels of phenylalanine
 Fruit fly and vestigial wing
• The vestigial gene plays a critical role in wing
development.
• vv will develop short wings
• The affects are:
– Cannot fly
– Number of egg strings in a fly's ovaries changes
– Position of bristles on a fly's scutellum alters,
– Length of a fly's life decreases
 Pigmentation and deafness in cats

• About 40% of cats with white fur and blue

eyes are deaf
• The gene affects pigmentation as well as
ability to hear
• Pigmentation may play a role in maintaining
fluid in ear canals
 Environmental Effects
Phenotype is dependent upon the presence
of a specific environment.

The temperature-sensitive product of the himalayan allele

is inactivated at high temperatures.
 Additional Genetic Patterns
Mendel’s peas Other Patterns
Complete Dominance Incomplete Dominance
Co-dominance
Lethal Alleles
Two alleles per gene Multiple Alleles
One gene affects one trait …Many traits (Pleiotropy)
Two (or more) genes affect one trait (Gene
Interactions and Polygenic Traits)

Could not observe gender- Sex-influenced traits, Sex-limited traits

specific traits
Equal contributions from both Cytoplasmic Inheritance, Genetic Maternal
parents Effect, Genomic Imprinting
No environmental influence Environmental Effects