12.

2 Modifications and Additions to Mendel’s Principles

• Further research revealed many variations on Mendel’s basic

principles of dominant and recessive inheritance:
• Incomplete dominance
• Codominance
• Multiple alleles
• Epistasis
• Polygenic Inheritance
• Pleiotropy
Incomplete Dominance

• When one allele of a gene is not completely dominant over

another allele of the same gene, it shows incomplete
dominance

• The phenotype of the heterozygote is intermediate between

the phenotypes of the dominant and recessive homozygotes

• In a monohybrid cross, the phenotypes of F2 individuals are

seen in a 1:2:1 ratio

• Example: Flower color in snapdragons

Experimental Research: Incomplete Dominance of a Trait

1. P generation

The red-flowered
snapdragon is
The white-flowered
homozygous for
snapdragon is
CR allele Homozygous Homozygous
R R White CW CW white parent homozygous for CW
red parent Red C C
allele

2. F1 generation
Fusion of CR gametes from the red-flowered plant
and CW gametes from the white-flowered plant
produces CR CW heterozygotes in the F1 These plants
have pink flowers, an intermediate phenotype
between red and white. This phenotype is not that
expected if one of the alleles shows complete
F1 offspring dominance to the other allele. This phenotype is,
all pink Pink CR CW however, consistent with incomplete dominance.

Fig. 12-13a
Experimental Research: Incomplete Dominance of a Trait

3. F1 x F1 cross

F1 pink-flowered plants are crossed

to produce the F2 generation
Pink CR CW Pink CR CW

4. F2 generation
Gametes from one CR CW F1 pink-flowered plant
CR CW

CR
Gametes from Each parent plant produces two types of
CR CR CR CW gametes, CR and CW. Random fusion of the
another CR CW F1
pink-flowered plant gametes from the two parents produces
the F2 generation.
CW
CR CW CW CW

Fig. 12-13b
Codominance

• Codominance occurs when the effects of two alleles of a gene

are equally detectable in heterozygotes

• Example: Human MN blood group

• If the genotype is LMLM, the blood type is M
• If the genotype is LNLN, the blood type is N
• In heterozygotes – genotype LMLN – two glycoprotein types
are present, producing the blood type MN
Multiple Alleles

• Although an individual can have only two alleles for a gene,

multiple alleles (more than two different alleles of a gene)
may be present in the population as a whole

• Example: Gene B may have several altered alleles (b1, b2, b3,
etc.), any two of which may be found in an individual

• Multiple alleles of a gene each contain differences at one or

more points in their DNA sequences
Multiple Alleles

Fig. 12-14
ABO Blood Group

• The human ABO blood group is an example of multiple alleles,

dominance, and codominance

• Red blood cells from one blood type are agglutinated

(clumped) by an antibodies in the serum of another type,
sometimes causing fatal transfusion reactions

• Example: People with type A blood have antigen A on their

red blood cells, and anti-B antibodies in their blood – if they
receive a type B transfusion, the blood will clump
Blood Types of ABO Blood Group
ABO Blood Group (cont.)

• The four blood types – A, B, AB, and O – are produced by

different combinations of multiple (three) alleles of a single
gene I designated IA, IB, and i

• IA and IB are codominant alleles that are each dominant to the

recessive i allele
Inheritance of Blood Types

Possible alleles in gametes from father:

IA or IB or i

A A A
IA B
I A IA IAIB IAi
Possible alleles or
in gamete from B
A B B
mother: I B
IAIB IBIB IBi
or
A B O
i
IAi IBi i
i
Fig. 12-15
Epistasis

• In epistasis, two genes interact – alleles of a gene at one locus

inhibit or mask the effects of alleles of a different gene at a
different locus

• The result of epistasis is that some expected phenotypes do

not appear among offspring

• Epistasis is an important factor in determining an individual’s

susceptibility to common diseases such as insulin resistance
Epistasis in Labrador Retrievers

• The dominant B allele produces black fur color in BB or Bb

Labs – the recessive b allele produces brown fur in bb Labs

• The dominant allele E of a second gene permits pigment

deposition – pigment deposition is blocked in homozygous
recessive ee individuals

• Epistasis by the E gene eliminates some of the expected

classes from crosses among Labs – BB ee, Bb ee, bB ee, and bb
ee genotypes all have yellow fur
Epistasis in Labrador Retrievers

A. Black labrador B. Chocolate brown labrador C. Yellow labrador

Fig. 12-16a-c
D. Black × yellow labrador cross Black Yellow

Homozygous parents:
BB EE bb ee

Black
F1 puppies:

Bb Ee

F2 offspring from cross of Gametes from one

Bb Ee F1 dog:
two F1 Bb Ee dogs:
BE Be bE be

BE
BB EE BB Ee Bb ee Bb Ee

Gametes from Be F2 phenotypic ratio

another Bb Ee BB Ee BB ee Bb Ee Bb ee is 9 black : 3
F1 dog: chocolate : 4 yellow
bE
Bb EE Bb Ee bb EE bb Ee

be
Bb Ee Bb ee bb Ee bb ee
Fig. 12-16d
Polygenic Inheritance

• A continuous distribution of phenotypes (such as height)

typically results from polygenic inheritance, in which several
to many different genes contribute to the same character

• These characters are known as quantitative traits –individual

genes that contribute to a quantitative trait are known as
quantitative trait loci or QTLs

• When numbers of individuals in a series of defined classes are

plotted as a graph, polygenic inheritance produces a bell-
shaped curve
Continuous Variation
Actual Variation
Ideal Bell-Shaped Curve
Polygenic Inheritance and the Environment

• Polygenic inheritance is often modified by the environment

• Example: Height in humans is not the result of genetics alone

• Poor nutrition during infancy and childhood limits growth
• Good nutrition promotes growth
Pleiotropy

• In pleiotropy, a single gene affects more than one character

of an organism

• Example: Sickle-cell anemia is caused by a recessive allele of a

single gene that alters hemoglobin – wide-ranging pleiotropic
effects damage many tissues and organs in the body and
affect many body functions
Pleiotropy in Sickle-Cell Anemia Homozygous recessive individual

Abnormal hemoglobin

Sickling of red blood cells

Rapid destruction of Clumping of cells and

sickle cells leads to anemia interference with blood
circulation leads to local failures
in blood supply
Impaired
mental
function

Pneumonia

Heart failure Heart failure

Kidney failure
Weakness Abdominal
and fatigue pain

Paralysis

Fig. 12-18
STUDY BREAK 12.2

1. Palomino horses have a golden coat color with a white

mane and tail. Palominos do not breed true. Instead, there
is a 50% chance that a foal with two Palomino parents will
be a Palomino. What is the explanation?

2. A true-breeding rabbit with agouti fur crossed with a true-

breeding rabbit with chinchilla fur produces all agouti
offspring. A true-breeding chinchilla rabbit crossed with a
true-breeding Himalayan rabbit produces all chinchilla
offspring. A true-breeding Himalayan rabbit crossed with a
true-breeding albino rabbit produces all Himalayan
offspring. Explain the inheritance patterns.