Certificate No.

AJA19-0226

MODULE 8. INHERITANCE OF COMPLEX TRAITS

7.1. Introduction
“Every book is a quotation; and every house is a quotation out of all forests, and mines, and
stone quarries; and every man is a quotation from all his ancestors”
- Ralph Waldo Emerson

Many traits, such as disease susceptibility, body size, and various aspects of
behavior, do not show simple patterns of inheritance. Nonetheless, we know that genes
influence these types of traits. One indication is that genetically related individuals resemble
one another. You can see these resemblances between your siblings, between your parents
and offspring, and sometimes between your more distant relatives. Can you think of some
traits common among you and your relatives? It seemed to be a lot. The extreme case is
monozygotic twins—twins that have developed from a single fertilized egg. Such twins are
often strikingly similar, in behavior as well as in appearance. Another indication for a genetic
influence is that these types of traits respond to selective breeding. In agriculture, crops and
livestock have been shaped by propagating individuals with desirable features—greater
protein content, reduced body fat, greater productivity, resistance to disease, and so forth.
This section will discuss more of these things and how complex inheritance be considered
among individuals. Don`t forget to be in mood before reading the next pages. Smile and
continue learning!

7.2. Learning Outcomes

At the end of the module, you will be able to:
1. Summarize the effects of mutation.
2. Describe the different types of muatation.
3. Site example of some genetic mutations.

7.3. Quantifying Complex Traits

Many complex traits vary continuously in a population. One phenotype seems to
blend imperceptibly into the next. Examples are body size, height, weight, enzyme activity,
blood pressure, and reproductive ability. The phenotypic variation in these types of traits can
be quantified by measuring the trait in a sample of individuals from the population. We might,
for example, capture mice in a barn and weigh each of them, or we might collect corncobs
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from a field and count the number of kernels on each. With such a quantitative approach, the
phenotype of every individual in the sample is reduced to a number. These numbers can be
analyzed with a variety of statistical techniques, enabling us to study the trait and, ultimately,
to investigate its genetic basis. Traits that are amenable to this kind of treatment are called
quantitative traits. Their essential characteristic is that they can be measured.

7.4. Genetic and Environmental Factors Influence Quantitative Traits

The Danish biologist Wilhelm Johannsen was one of the first people to show that
variation in a quantitative trait is due to a combination of genetic and environmental factors.
Johannsen studied the weight of seeds from the broad bean, Phaseolus vulgaris. Among the
plants available to him, seed weight varied from 150 mg to 900 mg. Johannsen established
lines from individual seeds across this range and maintained each line by self-fertilization for
several generations. The seeds from each of these “pure” lines tended to resemble the seed
from which they were founded. This ability to establish lines of beans with characteristically
different seed weights indicated that some variation in this trait is due to genetic differences.
However, Johannsen observed that seed weight also varied within each of the pure lines.
This residual variation was not likely to be due to genetic differences because each line had
been systematically inbred to make it homozygous for its genes. Rather, it must have been
due to variation in uncontrolled factors in the environment. Johannsen’s work, published in
1903 and 1909, therefore led to the realization that phenotypic variation in a quantitative trait
has two components—one genetic, the other environmental.

7.5. Multiple Genes Influence Quantitative Traits

Another Scandinavian, Herman Nilsson-Ehle, provided evidence that the genetic
component of this variation could involve the contributions of several different genes.
Nilsson-Ehle studied color variation in wheat grains. When he crossed a white-grained
variety with a dark red-grained variety, he obtained an F1 with an intermediate red
phenotype ( Figure 8.1). Self-fertilization of the F1 produced an F2 with seven distinct
classes, ranging from white to dark red. The number of F2 classes and the phenotypic ratio
that Nilsson-Ehle observed suggested that three independently assorting genes were
involved in the determination of grain color. Nilsson-Ehle hypothesized that each gene had
two alleles, one causing red grain color and the other white grain color, and that the alleles
for red grain color contributed to pigment intensity in an additive fashion. Based on this
hypothesis, the genotype of the white-grained parent could be represented as aa bb cc, and
the genotype of the red-grained parent could be represented as AA BB CC. The F1
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genotype would be Aa Bb Cc, and the F2 would contain an array of genotypes that would
differ in the number of pigment-contributing alleles present. Each phenotypic class in the F2
would carry a different number of these pigment contributing alleles. The white class, for
example, would carry none, the intermediate
red class would carry three, and the dark
red class would carry six. Nilsson-Ehle’s
work, published in 1909, showed that a
complex inheritance pattern could be
explained by the segregation and
assortment of multiple genes.
The American geneticist Edward M. East
extended Nilsson-Ehle’s studies to a trait
that did not show simple Mendelian ratios in
the F2. East studied the length of the corolla
in tobacco flowers. In one pure line, the
corolla length averaged 41 mm; in another,
it averaged 93 mm. Within each pure line,
East observed some phenotypic variation—
presumably the result of environmental
influences. By crossing the two lines, East
obtained an F1 that had intermediate corolla
length and approximately the same amount
of variation that he had seen within each of
the parental strains. When East intercrossed
the F1 plants, he obtained an F2 with about
the same corolla length, on average, that he saw in the F1; however, the F2 plants were
much more variable than the F1. This variability was due to two sources: (1) the segregation
and independent assortment of different pairs of alleles controlling corolla length, and (2)
environmental factors. East inbred some of the F2 plants to produce an F3 and observed
less variation within the different F3 lines than in the F2. The reduced amount of variation
within the F3 lines was presumably due to the segregation of fewer allelic differences. Thus,
the complex inheritance pattern that East observed with corolla length could be explained by
a combination of genetic segregation and environmental influences.

7.6. Threshold Traits

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In humans, the evidence that threshold traits are influenced by genetic factors comes
from comparisons between relatives, especially twins. Occasionally a fertilized human egg
splits and forms two genetically identical zygotes. The individuals who develop from these
zygotes are referred to as one-egg, or monozygotic (MZ), twins; they share 100 percent of
their genes. More frequently, two independently fertilized eggs develop at the same time in
the mother’s womb. These two-egg, or dizygotic (DZ), twins are as closely related as
ordinary siblings; thus, they share 50 percent of their genes. Because of their genetic
identity, we would expect MZ twins to be phenotypically more similar than DZ twins.
Similarity with respect to a threshold trait is assessed by determining the
concordance rate—the fraction of twin pairs in which both twins show the trait among pairs in
which at least one of them does. For cleft lip, a congenital condition due to an error in
embryological development, the concordance rate has been estimated to be about 40
percent for MZ twins and about 4 percent for DZ twins. The much greater concordance rate
for MZ twins strongly suggests that genetic factors influence an individual’s likelihood of
being born with cleft lip. Mental illnesses such as schizophrenia and bipolar disorder can
also be regarded as threshold traits. For schizophrenia, the concordance rate ranges from
30 to 60 percent for MZ twins and from 6 to 18 percent for DZ twins; for bipolar disorder, the
concordance rate is 70–80 percent for MZ twins and about 20 percent for DZ twins. Thus,
twin studies suggest that both of these mental illnesses are influenced by genetic factors.

7.7. Multiple Factor Hypothesis

The key idea in quantitative genetics is that traits are controlled by many different
factors in the environment and in the genotype. This Multiple Factor Hypothesis emerged in
the second decade of the twentieth century through the experimental investigations of E. M.
East, W. Johannsen, H. Nilsson-Ehle, and others. However, it was a theoretician, R. A.
Fisher, who crystallized the Multiple Factor Hypothesis into its modern form. Fisher did this
work during World War I while he was teaching school in Great Britain. His theoretical
analysis was published in 1918, the year the war ended.
Fisher hypothesized that a particular value of a quantitative trait, T, is the result of the
combined influence of genetic and environmental factors. He represented the effects of
these factors as deviations from the overall population mean:
T= μ + g + e
In this equation, the Greek letter μ represents the population mean, g represents the
deviation from the mean that is due to genetic factors, and e represents the deviation from
the mean that is due to environmental factors. In Fisher’s scheme, the position of a particular
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value of the trait, T, in the population depends on the genetic and environmental factors that
have affected it (Figure 8.2). Some factors produce large values of T, and some produce
small values of T. For each individual, these factors are different. Furthermore, Fisher
emphasized that a multitude of factors are involved. He hypothesized that many genes
contribute to a quantitative trait, and he assumed that many aspects of the environment also
make contributions. Today we say that a trait that is controlled by many genes is polygenic.

Figure 8. 2. Quantitative phenotypes

and the deviations of individual
measurements from the population
mean. Each individual’s deviation is
hypothesized to consist of a
deviation due to its genotype (g) and
a deviation due to its environment
(e).

7.8. Partitioning the Phenotypic Variance

With these simple ideas, Fisher was able to develop a procedure to analyze the
variability of a quantitative trait in terms of the contributing genetic and environmental
factors. To measure the variability of the trait, he focused on the statistic we have called the
variance. Specifically, he discovered how to split the overall variance of the trait into two
component variances, one measuring the effects of genetic differences among individuals
and the other measuring the effects of environmental differences. Thus, in Fisher’s analysis,
the variance of a quantitative trait, symbolized V T, is equal to the sum of a genetic variance,
symbolized Vg, and an environmental variance, symbolized Ve :
V T = Vg + Ve
In this variance equation, the variance of the quantitative trait,VT, is often referred to
as the total phenotypic variance. A discussion of Fisher’s method of splitting the total
phenotypic variance into its genetic and environmental components is beyond the scope of
this module. However, this method has since been used in many different contexts and has
given rise to a general statistical technique called analysis of variance.

7.9. Broad-Sense Heritability

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Often it is informative to calculate the proportion of the total phenotypic variance that
is due to genetic differences among individuals in a population. This proportion is called the
broad-sense heritability, symbolized H2 . In terms of Fisher’s variance components,

H2 = Vg/ VT
= Vg/ (Vg + Ve)
The symbol for the broad-sense heritability, H 2, is written with the exponent 2 to
remind us that this statistic is calculated from variances, which are squared quantities.
Because of the way it is calculated, the broad-sense heritability must lie between 0 and 1. If
it is close to 0, little of the observed variability in the population is attributable to genetic
differences among individuals. If it is close to 1, most of the observed variability is
attributable to genetic differences. The broad-sense heritability therefore summarizes the
relative contributions of genetic and environmental factors to the observed variability in a
population. However, it is important to note that this statistic is population-specific. For a
given trait, different populations may have different values of the broad-sense heritability.
Thus, the broad-sense heritability of one population cannot automatically be assumed to
represent the broad-sense heritability of another population.

7.10. Narrow-Sense Heritability

The ability to make predictions in quantitative genetics depends on the amount of
genetic variation that is due to the effects of individual alleles. Genetic variation that is due to
the effects of dominance and epistasis has little predictive power.
Quantitative geneticists distinguish between genetic variance that is due to alleles
that act additively and genetic variance that is due to dominance. These different variance
components are symbolized as:
Va = additive genetic variance
Vd = dominance variance
In addition, geneticists define a third variance component that measures variation
due to epistatic interactions between alleles of different genes:
Vi = epistatic variance
Epistatic interactions, like dominance, are of little help in predicting phenotypes.
Altogether, these three variance components constitute the total genetic variance:
Vg = V a + V d + V i
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If we recall that VT = Vg + Ve , we can express the total phenotypic variance as the

sum of four components:
VT = Va+ Vd+ Vi+ Ve
Of these four variance components, only the additive genetic variance, V a, is useful in
predicting the phenotypes of offspring from the phenotypes of their parents. This variance,
as a fraction of the total phenotypic variance, is called the narrow-sense heritability,
symbolized h2 . Thus,
h2 = Va/ VT
Like the broad-sense heritability, h2 lies between 0 and 1. The closer it is to one, the
greater is the proportion of the total phenotypic variance that is additive genetic variance,
and the greater is our ability to predict an offspring’s phenotype. Table 8.1 gives some
estimates for the narrow-sense heritability for several traits. Human stature is highly
heritable, but litter size in pigs is not. Thus, if we knew the parental phenotypes, we would be
better able to predict the height of a human’s offspring than the litter size of a pig’s offspring.

Table 8.1. Estimates for Narrow-Sense Heritability for quantitative traits.

1.12. Self-Assessment
1. List at least 3 effects of mutation to an organism.
2. Differentiate a germ-line mutation from a somatic cell mutation.
3. Is mutation very important for evolution? Explain.

1.13. References
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Snustad, D.P. & Simmons, M.J.2012. Principles of Genetics (6th Edition).New Jersey: John
Wiley & Sons, Inc

Brooker, R.J. 2012. Concept of Genetics. New York: The McGraw-Hill Companies, Inc.

Campbell, N.A., Reece, J.B., Urry, L.A., Cain, M.L., Wasserman, S.A., Minorsky, P.V., &
Jackson, R.B. 2008. Biology (8th Edition). California: Pearson Education, Inc.