POLYGENIC INHERITANCE

INTERACTIONS BETWEEN GENES

 Polygenic inheritance

• When single genes affect on a character 

discontinous variation (categories)
• Most characters such as height or mass and
even eye colour, show continuous variation
• May be due to an environmental influence
such as diet
OR it may be due to the interaction of several
genes.
Polygenic inheritance occurs when one characteristic is
controlled by two or more genes. Often the genes are large in
quantity but small in effect.
Examples of human polygenic inheritance are height, skin color,
eye color and weight.
Polygenes exist in other organisms, as well. Drosophila, for
instance, display polygeny with traits such as wing morphology,
bristle count and many others.
A "polygene” or "multiple gene inheritance" is a member of a
group of non-epistatic genes that interact additively to influence
a phenotypic trait. The term polygene was introduced by Mather
in 1941.
Advances in statistical methodology and high throughput
sequencing are, however, allowing researchers to locate
candidate genes for the trait. In the case that such a gene is
identified, it is referred to as a quantitative trait locus (QTL).
The genes that contribute to type 2 diabetes are thought to be
mostly polygenes. In July 2016, scientists reported identifying a
set of 355 genes from the last universal common ancestor
(LUCA) of all organisms living on Earth.
Main properties may be summarized as follows:
• Most metric and meristic traits are controlled by a number of genetic loci.
• Main mode of non-allelic genes interaction in corresponding gene series is
addition of mainly small particular allele contributions.
• The effects of allelic substitution at each of the segregating genes are usually
relatively small and interchangeable which results that identical phenotype may
be displayed by a great variety of genotypes.
• The phenotypic expression of the polygenic characters is undergoing
considerable modification by environmental influence.
• Polygenic characters show a continuous rather than discontinuous distribution.
• Balanced systems of polygenic inheritance in a population contain a great deal
of potential genetic variability in the heterozygous condition and released by
small increments through genetic recombination between linked polygenes.
• The statistical analysis of polygenic variation is based on
means, variances and co-variances, whereas the discontinuous
variation is analysed with the help of frequencies and ratios.
Thus, polygenic characters are studied in quantitative genetics
and oligogenic characters in mendelian genetics.
• Polygenic traits are highly sensitive to environmental changes,
whereas oligogenic characters are little influenced by
environmental variation.
• Generally the expression of polygenic characters is governed by
additive gene action, but now cases are known where polygenic
characters are governed by dominance and epistatic gene action.
Polygenic inheritance has been reported for various characters
both in plants and animals. The most common examples
include kernel colour in wheat, corolla length in tobacco, skin
colour in man and ear size.
Kernel Colour in Wheat
Kernel colours were observed in the ratio of 1 : 4 : 6 : 4 : 1. This
suggested that the seed colour in wheat is controlled by genes which
show lack of dominance and have small cumulative effects.
Skin Colour Inheritance in Man
A cross between negro and white gives birth to a child with medium skin colour
called mullatoes (F1). In F2 generation, four distinct shades of black colour were
observed besides one white. Thus, the phenotypic ratio of 1 : 4 : 6 : 4 : 1 was
observed. The individuals having 4, 3, 2, 1 and 0 effective alleles had black (negro)
dark, medium, light and white colour, respectively.
 The
interaction of
two genes
 Comb shape in chickens
• These can come in four shapes which are
controlled by two non-linked genes P and R
• Each gene has two alleles, one dominant (P
and R) and one recessive (p and r)
• Crossing Pure breeding Rose type (ppRR) with
Peas (PPrr) type gives Walnut (PpRr) as the F1
 Comb shape in chickens

An incestuous cross of the Walnut F1 produces

all four types of comb in the F2

PR Pr pR pr
PR Walnut Walnut Walnut Walnut
Pr Walnut Pea Walnut Pea
pR Walnut Walnut Rose Rose
pr Walnut Pea Rose Single
 Coat colour in mice
Crossing two mice AaCc what ratio of offspring are
produced?
Do the Mendelian rations of 9:3:3:1 result?
AC Ac aC ac
AC
Ac
aC
ac
The interaction of three or more genes
More genes interacting
= more variety in the offspring

• In the coat colour of mice the are several

genes interacting to produce a range of
different coat colours
• Three of these genes are A, B and C.
Human height
 Heritability
1. Heritability is the proportion of a population’s
phenotypic variation attributable to genetic
factors.
2. Continuous traits are often determined by
multiple genes and by environmental factors.
To assess heritability, we must:
a. Measure the variation in the trait.
b. Partition the variance into components attributable
to different causes.
.
 Inheritance of Ear Length in Corn
1. Emerson and East (1913) experimented with two pure-breeding strains of corn.
a. Each strain shows little variation in ear length.
i. The Black Mexican sweet corn variety has short ears (mean length 6.63 cm)
with a standard deviation (s) of 0.816.
ii. Tom Thumb popcorn has long ears (mean length 16.80 cm), and s = 1.887.
b. The two strains were crossed, and the F1 plants interbred.
i. The mean ear length in the F1 is 12.12 cm, approximately intermediate, and s =
1.519.
ii. Since both parents were true-breeding, all F1 plants should have the same
heterozygous genotype, and any variation in length would be due to
environmental factors.
iii. The mean ear length of the F2 is 12.89 cm, very similar to the F1, but in the F2,
s = 2.252, reflecting its greater variability.
iv. It is expected that the environment would have the same effect on the F2 that it
had on the P and F1 plants, but it would not be expected to have more effect.
v. The increased variability in the F2 most likely results from its greater genetic
variation.
Inheritance of ear length in corn
 Components of the Phenotypic Variance
1. Phenotypic variance (VP) is the measure of all variability observed for a
trait.
a. The portion of phenotypic variance caused by genetic factors is the genetic
variance (VG).
b. Nongenetic sources of variation (e.g., temperature, nutrition, parental care)
constitute environmental variance (VE).
c. The relationship is VP = VG + VE.
2. The partitioning of phenotypic variance is complex, and VG and VE may
covary, so that their sum is not the same as VP, and another term, COVG,E,
is needed.
a. For example, milk production in cows is influenced by both genetics and
nutrition.
b. If a farmer provides progeny of good milking cows with less food than
progeny of poor milking cows, a covariance between genes and environment is
produced.
c. In that case, the variance in milk production increases beyond that expected if
genes and environment were Chapter
acting23independently.
slide 19
3. Knowledge that there is a genetic component to a trait does
not allow accurate predictions about offspring. Another
analysis method for phenotypic variance, genotype-by-
environment (G X E) interaction, is needed.
a. G X E variance exists when the relative effects of the genotypes
differ among environments
b. An example is temperature affecting plant height:
i. In a cold environment, height of genotype AA plants averages
40 cm, while those with genotype Aa are 35 cm.
ii. In a warm climate, genotype AA is 50 cm tall, while genotype
Aa is now 60 cm.
iii. Both genotypes grow taller in warm temperatures (an
environmental effect). There is also a genetic effect, but it
depends on the environment. Genetic-environmental interaction
is represented by VGx E.
4. Phenotypic variance is represented by the equation:
VP = VG + VE + 2COVG,E + VG x E
a. Phenotypic variation arises from:
i. Genetic variation (VG).
ii. Environmental variation (VE).
iii. Genetic-environmental covariation (COVG,E).
iv. Genetic-environmental interaction (VG x E).
b. Relative contributions of each factor depend on the genetic
composition of the population, specifics of the environment and
the manner in which the genes interact with the environment.
 Broad-Sense and Narrow-Sense Heritability
1. The amount of variation among individuals resulting from genetic
variance (VG) is the broad-sense heritability of a phenotype.
a. Broad-sense heritability = h2B= VG /VP (h2 is heritability, and B
designates “broad-sense”).
b. Heritability ranges from 0–1, with 0 meaning no variation from genetic
differences, and 1 meaning that all variation is genetically based.
c. Broad-based heritability:
i. Includes all types of genes and gene actions.
ii. Does not distinguish between additive, dominance and interactive
genetic variance.
iii. Assumes that interaction between genotype and environment (VG x E)
is not important.
iv. Is therefore of questionable usefulness.
2. Additive genetic effects are more often used, because this component
allows prediction of the average phenotype of the offspring when
phenotypes of the parents are known.
a. For example, in a cross for a trait involving a single locus:
i. One parent might be 10 cm tall, with the genotype A1A1, and the
other parent 20 cm tall, with the genotype A2A2.
ii. If the alleles are additive, the F1 (A1A2) will be 15 cm tall, while if
one allele is dominant, the F1 will resemble one of the parents.
b. In the same way, epistatic genes will not always contribute to the
resemblance between parents and offspring.
3. Narrow-sense heritability is the proportion of the variance
resulting from additive genetic variance.
a. Narrow-sense heritability = h2N= VA /VP (h2 is heritability, and N
designates “narrow-sense”).
b. VA determines resemblance across generations, and responds to
selection in a predictable way.
 How Heritability Is Calculated
1. Many of the methods used compare related and unrelated individuals, or
compare individuals with different degrees of relatedness. When
environmental conditions are identical:
a. Closely related individuals have similar phenotypes when the trait is
genetically determined.
b. Related individuals are no more similar in phenotype than unrelated
ones when the trait is environmentally determined.
2. In humans, environmental conditions are complex in structure, and
extended parental care means that it is difficult to separate the effects
of genetics from those of nurture and culture. Methods of calculating
heritability in humans include:
a. Comparison of parents and offspring.
b. Comparison of full and half siblings.
c. Comparison of identical and nonidentical twins.
3. Heritability from parent-offspring regression is calculated
by correlation and regression of data measuring the
phenotypes of parents and offspring in a series of
families.
a. The mean phenotype of the parents (mid-parent value) and
mean phenotype of offspring are plotted with each point on
the graph representing one family.
b. Slope of the parent-offspring regression line reflects the
magnitude of heritability.
i. If the slope is 0, narrow-sense heritability (h2N) is also
0.
ii. If the slope is 1, offspring have a phenotype exactly
intermediate between the two parents, and additive gene
effects account for the entire phenotype.
iii. If the slope is between 0 and 1, both additive genes
and nonadditive factors (dominant and epistatic genes,
environment) affect the phenotype.
 HERITABILITY

 The heritability (h2) of a trait is a measure of the degree

of resemblance between relatives.

h2 =

additive genetic variance (VA)/ phenotypic variance (VP)

Heritability ranges from 0 to 1

(Traits with no genetic variation have a heritability of 0)

 HERITABILITY

h2 = VA / VP = VA / (VG + VE)

 Since heritability is a function of the environment (VE),

it is a context dependent measure.

It is influenced by both,

 The environment that organisms are raised in, and

 The environment that they are measured in.

A quantitative trait locus (QTL) is a locus (section of DNA) that
correlates with variation of a quantitative trait in the phenotype of a
population of organisms. QTLs are mapped by identifying which
molecular markers (such as SNPs or AFLPs) correlate with an
observed trait. This is often an early step in identifying and
sequencing the actual genes that cause the trait variation.
QTLs are mapped by identifying which molecular markers (such
as SNPs or AFLPs) correlate with an observed trait. This is often an
early step in identifying and sequencing the actual genes that cause
the trait variation.