Human Heredity Principles and Issues 11th

Edition Cummings 1305251059 9781305251052

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5
THE INHERITANCE OF COMPLEX TRAITS
CHAPTER OUTLINE
ALL THE KING’S MEN
POLYGENIC TRAITS ARE CONTROLLED
BY TWO OR MORE GENES
Phenotypes can be discontinuous or
continuous.
How are complex traits defined?
COMPLEX TRAITS AND VARIATION IN
PHENOTYPE
Assessing interaction of genes,
environment, and phenotype can be
difficult.
THE ADDITIVE MODEL FOR COMPLEX
TRAITS
One way of looking at polygenic traits
is to assume each gene contributes
additively.
Environment can influence the final
phenotype.
Human eye color is a polygenic trait.
Averaging out the phenotype is called
regression to the mean.
MULTIFACTORIAL TRAITS: MULTIPLE
GENES AND ENVIRONMENTAL
EFFECTS
Several methods are used to study
multifactorial traits.

Chapter Five
 The interaction between genotype and
environment can be estimated.
THE GENETIC REVOLUTION:
DISSECTING GENES AND
ENVIRONMENT IN SPINA BIFIDA
HERITABILITY MEASURES THE
GENETIC CONTRIBUTION TO
PHENOTYPIC VARIATION
Heritability estimates are based on
known levels of genetic relatedness.
Fingerprints can be used to estimate
heritability.
TWIN STUDIES AND COMPLEX TRAITS
The biology of twins includes
monozygotic and dizygotic twins.
Concordance rates in twins.
We can study multifactorial traits such
as obesity with twins and families.
What are some genetic clues to
obesity?
GENETICS OF HEIGHT: A CLOSER LOOK
Height is a multifactorial trait.
Genome Wide Association Studies
(GWAS) are used to identify SNPs
associated with phenotypic variations.
SKIN COLOR AND IQ ARE COMPLEX
TRAITS
Skin color is a multifactorial trait.
Intelligence and intelligence quotient
(IQ): Are they related?
IQ values are heritable.
What is the controversy about IQ and
race?
Scientists are searching for genes that
control intelligence.

CHAPTER SUMMARY
This chapter considers the inheritance of traits that are controlled by more than one gene. Traits
selected for consideration in previous chapters are examples of monogenic inheritance and
show discontinuous phenotypes. Other traits, such as height in humans, show continuous
variation. These traits are usually controlled by two or more gene pairs and are examples of
polygenic inheritance.

The apparent problem posed by the existence of continuous variation generated a debate over
the universality of the principles discovered by Mendel. The development of the appropriate
statistical tools and further research on inheritance of such traits resolved this problem in the
1930s. In the case of polygenic inheritance, traits are determined by a number of alleles; each of
which contributes to the phenotype and generates a continuous distribution of phenotypes in
the offspring. One of the distinguishing characteristics of polygenic inheritance is the
phenomenon of regression to the mean, and an example based on the opening vignette is
presented in detail.

Polygenic inheritance is also characterized by interaction between the genotype and the
environment, resulting in variation in phenotype. Traits are described as complex if the relative
contribution of genotype and environment is unknown. Polygenic traits that have a strong
interaction with the environment are said to be multifactorial. Threshold effects are explained in

The Inheritance of Complex Traits

traits for which there is a continuous normal distribution of genotypes, but only those above a
certain level of genetic liability produce the phenotype. The difficulty of determining a genetic
component to such complex traits is explored in a Genetic Journeys section on autism.

Heritability of a trait is the estimate of the total phenotype variation for that trait in a population
that is caused by genetic variance. As a parameter of populations, it is not possible to compare
one population with another or to assign values to individuals within the population. The
experimental approaches for measuring heritability are explained. Twin studies in particular
are a valuable tool in estimating the heritability for many traits. As an example of how such
studies can be used to estimate heritability, the heritability of obesity in twin studies is
documented and some recent studies on the genetic control of body weight are described.

The last section of the chapter considers some multifactorial traits that are of clinical
significance as well as two that have been the subject of social controversy, skin color and
intelligence. The controversy about intelligence, IQ, and race is explained in detail.

TEACHING/LEARNING OBJECTIVES
At the completion of this chapter, the student should be able to:

5-1 All the King’s Men

5-1-1: Debate the ethical issues surrounding specific trait selection.
5-1-2: Identify the limitations of genetic technology in determining genetic risk for complex
traits in human embryos.
5-2 Polygenic Traits Are Controlled by Two or More Genes
5-2-1: Differentiate between discontinuous and continuous phenotypic variation and
identify the genetic conditions under which each occurs.
5-2-2: Distinguish among complex traits, polygenic traits, and multifactorial traits, and
describe factors that complicate their analysis.
5-3 Complex Traits and Variation in Phenotype
5-3-1: List the distinguishing characteristics of complex traits.
5-3-2: Identify several polygenic and multifactorial complex traits in humans.
5-3-3: Explain how the number of genes controlling a trait affects the number of phenotypic
classes for that trait.
5-4 The Additive Model for Complex Traits
5-4-1: Demonstrate how the additive model predicts the effects of individual genes on
complex traits.
5-4-2: Describe the concept of regression to the mean and apply it to phenotypic
implications in a polygenic system.
5-5 Multifactorial Traits: Multiple Genes and Environmental Effects

40 Chapter Five
 5-5-1: Apply basic genetic concepts to the interaction between multiple genes and
environmental factors in multifactorial traits.
5-5-2: Explain how epigenetics contributes to changes in gene expression patterns and in
turn, varied phenotypes of multifactorial traits.
5-5-3: Explain how the threshold model and recurrence risk are used to predict phenotypic
distributions of complex traits.
5-5-4: List the characteristics of spina bifida and examine the genetic and environmental
factors that contribute to the variable phenotypes of this disorder.
5-6 Heritability Measures the Genetic Contribution to Phenotypic Variation
5-6-1: Define genetic and environmental variance, and explain how heritability, as measured
by the correlation coefficient, is used to quantify the contribution of each to phenotypic
variations of complex traits.
5-7 Twin Studies and Complex Traits
5-7-1: Explain how twin and adoption studies are used to measure environmental and
genetic contributions to phenotypic variations of complex traits.
5-7-2: Illustrate the biology of monozygotic and dizygotic twins, and list the assumptions
scientists make when conducting research on twins.
5-7-3: Apply the concept of concordance to the study of heritability of complex traits.
5-7-4: Describe how geneticists are using twin studies, animal models, and human genome
scanning techniques to study the complex trait of obesity.
5-8 Genetics of Height: A Closer Look
5-8-1: Explain how single nucleotide polymorphisms (SNPs) and haplotypes are used to
reveal genetic contributions to complex traits such as height.
5-8-2: Summarize the conclusions of GWAS studies that aimed to identify genes associated
with human height.
5-9 Skin Color and IQ Are Complex Traits
5-9-1: Demonstrate the relationships of melanin and global latitude distributions to human
skin color.
5-9-2: Explain how the study of black-white marriages in the early 1900s determined that
human skin color is a complex trait.
5-9-3: Examine how theories about human intelligence have changed from the late
eighteenth to the early twenty-first century.
5-9-4: Debate the controversial issues surrounding IQ and race.
5-9-5: Explain why heritability and environmental factors cannot be accurately quantified in
the study of human intelligence.

TERMS DEFINED IN THIS CHAPTER

• Discontinuous variation: Phenotypes that fall into two or more distinct, nonoverlapping
classes.
• Continuous variation: A distribution of phenotypic characters that is distributed from
one extreme to another in overlapping, or continuous, fashion.

The Inheritance of Complex Traits

 • Complex traits: Traits controlled by multiple genes, the interaction of genes with each
other, and with environmental factors where the contributions of genes and
environment are undefined.
• Polygenic traits: Traits controlled by two or more genes.
• Multifactorial traits: Traits that result from the interaction of one or more
environmental factors and two or more genes.
• Complex traits: Traits controlled by multiple genes and the interaction of environmental
factors where the contribution of genes and environment are undefined.
• Regression to the mean: In a polygenic system, the tendency of offspring of parents
with one of the extreme phenotypes to exhibit phenotypes that are closer to the
population average.
• Epigenetics: Reversible chemical modifications of chromosomal DNA (such as
methylation of bases) and/or associated histone proteins that change the pattern of gene
expression without affecting the nucleotide sequence of the DNA.
• Genetic variance: The phenotypic variance of a trait in a population that is attributed to
genotypic differences.
• Environmental variance: The phenotypic variance of a trait in a population that is
attributed to differences in the environment.
• Heritability: An expression of how much of the observed variation in a phenotype is
due to differences in genotype.
• Correlation coefficients: Measures of the degree to interdependence of two or more
variables.
• Monozygotic (MZ) twins: Twins derived from a single fertilization event involving one
egg and one sperm; such twins are genetically identical.
• Dizygotic (DZ) twins: Twins derived from two separate and nearly simultaneous
fertilization events, each involving one egg and one sperm. Such twins share, on
average, 50 percent of their genes.
• Concordance: Agreement between traits exhibited by both twins.
• Leptin: A hormone produced by fat cells that signals the brain and ovary. As fat levels
become depleted, secretion of leptin slows and eventually stops.
• Intelligence quotient (IQ): A score derived from standardized tests that is calculated by
dividing the individual's mental age (determined by the test) by his or her chronologic
age, and multiplying the quotient by 100.
• General cognitive ability: Characteristics that include verbal and spatial abilities,
memory, speed of perception, and reasoning.

42 Chapter Five
TEACHING HINTS
Early in the chapter, in the section “Human eye color is polygenic,” the author uses the term
dominant to describe an allele A that makes the eye darker, whereas its recessive allele a does
not. This means that AA individuals have darker eyes than equivalent Aa individuals. This
seems to be incomplete dominance, not dominance. Make sure your students are aware of this.
The author’s choice of the word “dominant” reflects one way of looking at the alleles’ effects as
“adding pigment” or “not adding pigment” and shows, again that use of the terms dominant
and recessive often depends on what aspect of phenotype is being examined.

Many students have seen those TV shows where two identical twins, separated at birth, are
reunited, only to find that they both love football and cheer for the NY Jets, both own golden
Labrador retrievers named Sam, and both wear high top Adidas sneakers. Does this mean we
have genes for sports team choices, pet naming, and sneaker preference? What does it mean?
What is often not discussed on these shows? (The differences between the twins!) We have
found that students enjoy puzzling over this issue.

Stephen J. Gould in The Mismeasure of Man described some of the craniometric “experiments”
referred to by author Cummings and used this to show how science can be subtly subverted by
unconscious or conscious biases. If you and your students are ready for a good discussion that
can be very sensitive and politically charged, you might ask why there has continued to be such
attention to the matter of intelligence differences among ethnic groups. This may bring you
back to some of the social attitudes revealed in the eugenics movement discussed earlier in the
text.

VIDEOS AND WEBSITES

VIDEOS
Learn Genetics — Identical Twins: Pinpointing Environmental Impact on the Epigenome
Short video and article on topic of epigenetics and twin studies. Includes references.
http://learn.genetics.utah.edu/content/epigenetics/twins/

WEBSITES
Myths of Human Genetics
Website with information aimed at dispelling common myths about single gene inheritance.
http://udel.edu/~mcdonald/mythintro.html

Nature Genetics — Genetic Discussion of Complex Traits: Guidelines for Interpreting and
Reporting Linkage Results
Scientific article on interpreting linkage results from genome scans. Subscription required.
http://www.nature.com/ng/journal/v11/n3/abs/ng1195-241.html

The Inheritance of Complex Traits

Wellcome Trust Sanger Institute — Genetics of Complex Traits in Humans
Article with links to research and publications on complex traits.
http://www.sanger.ac.uk/research/projects/complextraits/

Exceptions to Simple Inheritance

Twelve exceptions to simple Mendelian inheritance. Includes practice quiz.
http://anthro.palomar.edu/mendel/mendel_3.htm

Michigan’s Genetics Resource Center — Multifactorial Traits

Activities on multifactorial traits.
http://migrc.org/TeachersAndStudents/MultifactorialTraits.html

Public Library of Science — What Controls Variation in Human Skin Color?

Peer-reviewed article on the genetics of skin color.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC212702/

Philosophical Transactions of the Royal Society — Genetics of Obesity

Article examining the genetics of obesity.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1642700/

Journal of Nutrition — Obesity: The Integrated Roles of Environment and Genetics

Article examing the environmental and genetic factors of obesity.
http://jn.nutrition.org/content/134/8/2090S.full

Human Intelligence
Historical influences, controversies, and resources on human intelligence.
http://www.intelltheory.com/

Cancer Research UK — What Causes Cancer

Website on multifactorial basis of cancer.
http://cancerhelp.cancerresearchuk.org/about-cancer/causes-symptoms/causes/what-causes-
cancer

RESPONSES TO CASE STUDY QUESTIONS

1. Answers to this question should focus on the relative percentages of cleft lip with no family
history versus the percentage with a family history (from Tim).

2. Yes, generally.

3. Answers will vary slightly, but should emphasize the relative contributions of different risk
factors, such as a woman who smokes or a father with a cleft lip.

44 Chapter Five
ANSWERS TO TEXT QUESTIONS
1. Continuous variation is due to polygenic inheritance. As organisms have become
evolutionarily more advanced, complex phenotypes have developed that are controlled by
multiple genes rather than a single gene. Human traits such as height, weight, skin color,
and intelligence may be controlled by polygenes.

2. a. Height in pea plants is determined by a single pair of genes with dominant and
recessive alleles. Height in humans is determined by polygenes.
b. For traits determined by polygenes, the offspring of matings between extreme
phenotypes show a tendency to regress toward the mean phenotype in the population.

3. Differences in height may have reflected differences in the level of nutrition rather than
differences in the genetic makeup of individuals. If this was the case, many of the crosses
ordered by Frederick William would have amounted to little more than random breeding in
the population, which would not increase the genetic components for height in the
offspring.

4. Yes. Within some of the families it is likely that greater height was determined by genetic
differences rather than by better nutrition. In these cases, brother-sister marriages would
effectively cause the alleles for greater height in the offspring and subsequent generations to
become homozygous, leading eventually to taller individuals.

5. a. F1 genotype = A'AB'B, phenotype = height of 6 ft

b. A'AB'B X A'AB'B

Genotypes Phenotypes
A'A'B'B' 7 ft
A'A'B'B 6 ft 6 in
A'A'BB 6 ft
A'AB'B' 6 ft 6 in
A'AB'B 6 ft
A'ABB 5 ft 6 in
AAB'B' 6 ft
AAB'B 5 ft 6 in
AABB 5 ft

6. In the case of polygenes, the expression of the trait depends on the interactions of many
genes, each of which contributes a small effect to the expression of the trait. Thus, the
differences between genotypes often are not clearly distinguishable. In the case of
monogenic determination of a trait, the alleles of a single locus have major effects on the
expression of the trait, and the differences between genotypes are usually easily discerned.

The Inheritance of Complex Traits

7. a. 3 genes
b. ~1.67cm
c. 15cm

8. Liability is caused by a number of genes acting in an additive fashion to produce the defect.
If exposed to certain environmental conditions, the person above the threshold will most
likely develop the disorder. The person below the threshold is not predisposed to the
disorder and will most likely remain normal.

9. Genetic variance is the variation in phenotype exhibited by a population that is due to

differences in the genotypes of the individuals of the population.

10. Environmental variance is any variation that occurs between individuals of the same
genotype in a population.

11. Heritability is a measure of the proportion of variability in a population that is caused by

genetic variance.

12. Relatives are used because the proportion of genes held in common by relatives is known.

13. Heritability (H) would be zero.

14. No. Dizygotic twins arise from two separate fertilized eggs. Only monozygotic twins can be
conjoined, since they originate from the same fertilized egg and are genetically identical.

15. B

16. In this particular case, the individuals are genetically identical, so any differences in the
expression of a trait must be due to differences in their environments.

17. This suggests that environmental factors play a major role in the expression of the trait.
However, since there is a significant concordance difference between MZ and DZ twins, this
trait is also shown to be genetic.

18. It suggests the heritability value H = 1.

19. a. The study included only men who were able to pass a physical exam, which eliminated
markedly obese individuals, and so the conclusions cannot be generalized beyond the
group of men inducted into the armed forces.
b. To design a better study, include MZ and DZ twin men and women, and maybe even
children. Include a cross section of various populations (ethnic groups, socioeconomic
groups, weight classifications, etc.). Control the diet so that it remains a constant.

46 Chapter Five
 Another approach is to study MZ and DZ twins who were reared apart (and
presumably in different environments), or adopted and natural children who were
raised in the same household (same environment). There are other possible answers.

20. The ob gene was first identified in mice, and encodes a weight-controlling hormone called
leptin. Leptin may be involved in controlling an appetite-suppressing hormone, GLP-1.
This control system may regulate how food is turned into fat. A human ob gene has been
found.

21. In this case, it is likely that the similarities in the expression of a trait between adopted and
natural children are due to the sharing of a similar environment.

22. a. Yes, this is possible. Individuals of moderate height may have alleles that contribute no
units to height: combination of these alleles would yield shorter offspring. Alternatively,
these individuals may have alleles that contribute 1 (partial) or 2 units of height:
combination of these alleles would yield taller offspring. However, it is unlikely that the
height difference would be extreme.
b. No; someone of minimal height has no alleles contributing additively to height.
Therefore, all alleles for height must come from the parent of intermediate height. There
is no allele combination here that would yield an offspring with more additive alleles
than the intermediate height parent already has.

23. Hypertension and atherosclerosis have well-established genetic components; however,

there are also environmental contributions. Familial hypercholesterolemia is an autosomal
dominant disease with a clear genetic basis. The gene associated with this condition maps
to chromosome 19, and encodes an LDL receptor. Diet and other environmental factors do
play a role in this disease as well.

24. First, intelligence is difficult to measure. Also, for such a complex trait, there are likely to be
many genes involved and a large environmental component.

25. Mental age: 11

Chronological age: 9
11/9 = 1.2 X 100 = 120

26. The heritability difference observed between the racial groups for this trait cannot be
compared because heritability measures variation within one population at the time of the
study. Heritability cannot be used to estimate genetic variation between populations.

DISCUSSION OR SHORT ANSWER QUESTIONS

1. How would you go about determining whether a trait was controlled by a single gene or
by polygenes? Would pedigree analysis be of use in answering this question?

The Inheritance of Complex Traits

2. Davenport and Davenport estimated that two genes control skin color in humans, while,
according to others, as many as four different genes are involved. Why has there been so
much difficulty in determining the number of genes controlling this trait?

3. The heritability of IQ is about 0.70. This is interpreted by some to mean that IQ is 70

percent genetic and 30 percent environmental. Is this correct? What exactly does a
heritability value of 0.70 mean?

4. A movie title has suggested that “white men can’t jump.” Does this mean that white men
are genetically inferior to black men in jumping ability? Could this be determined
scientifically? If so, how? Not so sure this is an appropriate question.

5. Name five human traits that could be described as multifactorial from twin studies and
concordance rates.

6. Provide evidence that argues for a substantial role for the environment in determining IQ.

7. If equal opportunity in education is given to children of all races, what effect would this
have on the heritability value for IQ?

8. How have twins been useful in studies of multifactorial traits?

9. Give two different genotypes for individuals with intermediate skin color and show the
different types of gametes that they could produce.

10. Discuss the factors responsible for regression to the mean.

11. Why are fingerprint patterns a useful trait for measuring heritability?

12. Discuss the misuse and misinterpretation of heritability and represent the term
mathematically.

48 Chapter Five