Concepts of Genetics 2nd Edition Brooker

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Chapter 8: Variation in Chromosome Structure and Number

Student Learning Objectives

Upon completion of this chapter the student should be able to:

1. Describe the structural features used to classify and identify chromosomes.

2. Differentiate between the four types of change in chromosome structure: deletion,
duplication, inversion, and translocation.
3. Describe the mechanisms and phenotypic outcomes of deletions and duplications.
4. Describe the mechanisms and phenotypic outcomes of inversions and translocations.
5. Understand and differentiate between euploidy, polyploidy, and aneuploidy.
6. Understand phenotypic outcomes of aneuploidy, and give examples of human
aneuploid diseases.
7. Understand variations in euploidy such as endopolyploidy, polytene chromosomes,
and the use of polyploidy in agriculture.

Key Terms
Acentric fragment Dicentric Dicentric
Acrocentric bridge Duplication
Allelic variation Endopolyploidy
Allodiploid Euploid
Alloploid G bands
Alloploidy Gene duplication
Allopolyploid Gene family
Allotetraploid
Aneuploidy
Autopolyploid
Balanced translocations
Chromocenter
Complete nondisjunction
Copy number variation (CNV)
Cytogeneticist
Deficiency
Deletion
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Genetic
variation
Haplodiploid
Homologous
Interstitial
deletion
Inversion
Inversion
heterozygote
Inversion loop
Karyotype
Meiotic nondisjunction
Metacentric
Mitotic nondisjunction
Monosomic
Mosaicism
Nonallelic
homologous
recombination
Nondisjunction
Paracentric
inversion Paralogs
Pericentric inversion
Polyploid
Polytene
chromosome Position
effect Reciprocal
translocation
Repetitive sequences
Robertsonian translocation

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 Segmental duplication Tetraploid
Semisterility Translocation
Simple translocation Translocation cross
Submetacentric Triploid
Telocentric Trisomic
Telomeres Unbalanced translocation
Terminal deletion

Chapter Outline

Introduction

1. Genetic variation refers to genetic differences between members of the same

species. Allelic variation refers to variation within a specific gene

8.1 Microscopic Examination of Eukaryotic Chromosomes

1. A cytogeneticist studies variations in chromosome structure and number.

2. The chromosomes for a given species vary in both size and shape (Figure 8.1).
3. Chromosomes are named according to the location of their centromere (Figure
8.1b). Based on the location of the centromere, the chromosome is either called
metacentric, submetacentric, acrocentric, or telocentric.
a. The long arm of the chromosome is called q.
b. The short arm of the chromosome is called p.
4. A karyotype is a micrograph that arranges the chromosomes with the short arm at the
top, and then in descending order by size (Figure 8.1d).
5. Cytogeneticists may use stains to further identify the chromosomes. The use of
Giemsa stain produces a G banding pattern (Figure 8.1c), which is used as a standard
identification pattern for chromosomes.
a. Banding patterns may also be used to identify changes in chromosome structure.

8.2 Changes in Chromosome Structure: An Overview

1. Changes in chromosome structure may either change the total amount of genetic
material within the chromosome (increase or decrease) or rearrange the genetic
material within a chromosome or between two chromosomes.
2. Examples of changes to chromosome structure include (Figure 8.2):
a. Deletion. This decreases the total genetic content of the chromosome, due to a
missing region.
b. Duplication. This increases the total genetic content of the chromosome, due to a
duplicated region.
c. Inversion. This changes the arrangement of the chromosome.
d. Translocation. These may be either simple translocations or reciprocal
translocations. These typically change both the arrangement of the chromosome
and the total genetic content.

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8.3 Deletions and Duplications

The Loss of Genetic Material in a Deletion Tends to Be Detrimental to an Organism

1. Chromosomal deletions are the result of a break in a chromosome. After the break,
the piece without the centromere will be lost. This is called a terminal deletion
(Figure 8.3a).
2. If the chromosome breaks at two locations, and the end pieces rejoin, it is called an
interstitial deletion (Figure 8.3b).
3. Aberrant recombination may also produce deletions.
4. The effect of a deletion depends upon the size of the deletion and whether it includes
genes or portions of genes.
a. Cri-du-chat syndrome in humans is caused by a deletion in the short arm of
chromosome 5 (Figure 8.4).

Duplications Tend to Be Less Harmful Than Deletions

1. A duplication creates extra genetic material (Figure 8.5). Duplications are usually the
result of incorrect crossing over events.
a. These are usually rare, spontaneous events during the evolution of the species.
b. They are often the result of repetitive DNA sequences within chromosomes, and
are called nonallelic homologous recombination.
2. The effects of a duplication on the phenotype are associated with the size of the
duplication and number of genes that are duplicated.
a. Usually, duplications are less detrimental than deletions.
3. An example of a duplication in humans is Charcot-Marie-Tooth disease.

Duplications Provide Additional Material for Gene Evolution, Sometimes Leading to the
Formation of Gene Families
1. Duplications may be responsible for the creation of gene families. A gene family is
two or more genes that are similar to one another. These genes gradually diverge
from one another by accumulating mutations (Figure 8.6).
a. Genes that are derived from a single ancestral gene are called homologous.
b. Homologous genes in a single species are called paralogs.
2. An example is the globin gene family in humans (Figure 8.7).

Copy Number Variation Is Relatively Common Among Members of the Same Species
1. Copy number variation (CNV) refers to a type of structural variation in which a
segment of DNA that is 1000 bp or more in length exhibits copy number differences
among members of the same species (Figure 8.8).
2. When a chromosome has more than one copy of a DNA segment, it is said to have
undergone a segmental duplication.
3. There are often no phenotypic consequences of CNV. However, CNV has been
linked to certain human diseases.

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8.4 Inversions and Translocations

Inversions Often Occur Without Phenotypic Consequences

1. A rearrangement of the genetic material that includes a segment that has been flipped
to the opposite orientation is called an inversion.
a. The total amount of genetic material remains the same.
2. An inversion that contains the centromere is called a pericentric inversion. An
inversion that does not include the centromere is called a paracentric inversion
(Figure 8.9).
3. Inversions may not have phenotypic consequences, unless it disrupts the function of a
vital gene.
a. An example is hemophilia (type A) which is due to an inversion on the X
chromosome.
b. In other cases, an inversion may reposition a gene which in turn alters its
expression. This is called position effect.
c. Approximately 2% of the human population carry inversions.

Inversion Heterozygotes May Produce Abnormal Chromosomes Due to Crossing Over

1. An individual who carries one copy of an inverted chromosome is called an inversion
heterozygote.
a. These individuals are phenotypically normal, but produce abnormal gametes.
2. During meiosis, the homologous chromosomes form an inversion loop (Figure 8.10).
a. If it is a pericentric inversion, the result is two complete chromosomes and two
abnormal chromosomes. Both abnormal chromosomes carry a duplication and a
deletion (Figure 8.10a).
b. If it is a paracentric inversion, the result is two complete chromosomes and two
abnormal chromosomes. One is a dicentric chromosome, the other an acentric
fragment. The dicentric chromosome is temporary, and breaks during anaphase,
ending up with a deletion (Figure 8.10b).

Translocations Involve Exchanges Between Different Chromosomes

1. The ends of normal chromosomes have telomeres, which contain specialized
repetitive DNA.
a. Telomeres identify, and protect, the ends of the chromosomes.
b. If the telomeres are removed, the ends of the chromosome become reactive. DNA
repair mechanisms may then join the ends of reactive chromosomes together,
producing a translocation (Figure 8.11a).
2. Nonhomologous crossover may also produce a translocation (Figure 8.11b).
a. This is often called a reciprocal, or balanced, translocation. It does not result in a
change in the total amount of genetic information in the cell.
3. If a piece of one chromosome is attached to another, it is called an unbalanced
translocation.
a. These usually produce phenotypic abnormalities or lethality.
4. A translocation in which the centromeric regions of two nonhomologous acrocentric
chromosomes become fused is called a Robertsonian translocation (Figure 8.12).

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Individuals with Reciprocal Translocations May Produce Abnormal Gametes Due to the
Pairing and Segregation of Chromosomes
1. During meiosis, homologous chromosomes attempt to synapse with each other, but
due to a balanced translocation produce a translocation cross (Figure 8.13). The
consequences of this are based on how the chromosomes segregate.
a. In alternate segregation (Figure 8.13a), the end result is two normal gametes, and
two gametes with balanced translocations.
b. In adjacent-1 segregation (Figure 8.13b), the end result is four unbalanced
gametes.
c. In adjacent-2 segregation (Figure 8.13c), the end result is four unbalanced
gametes.
2. An individual who does not produce 100% normal gametes is said to exhibit
semisterility.

8.5 Changes in Chromosome Number: An Overview

1. Variation in chromosome number may be the result of a change in the number of

sets of chromosomes, or variation in the number of chromosomes within a set
(Figure 8.14).
2. Organisms that are euploid have a chromosome number that is an exact multiple of
the chromosome set (Figure 8.14b).
a. The term triploid indicates an organism with three multiples of the chromosome
set.
b. The term polyploid indicates an organism with three or more sets of
chromosomes.
3. Aneuploidy refers to the change in the number of a specific chromosome
(Figure 8.14c and Figure 8.15).
a. Trisomic (2n + 1) indicates an extra copy of one chromosome.
b. Monosomic (2n - 1) indicates a missing copy of one chromosome.

8.6 Variation in the Number of Chromosomes Within a Set: Aneuploidy

Aneuploidy Causes an Imbalance in Gene Expression That Is Often Detrimental to the

Phenotype of the Individual
1. Aneuploidy commonly causes an abnormal phenotype. This is usually due to the
change in the production of gene product.
a. Gene expression is changed in hundreds or thousands of genes, leading to
detrimental effects.

Aneuploidy in Humans Causes Abnormal Phenotypes

1. Approximately 5-10% of fertilized human eggs have an abnormal chromosome
number, and almost 50% of spontaneous abortions are due to aneuploidy.
2. Aneuploid conditions in humans are listed in Table 8.1.
3. Most of the known trisomies of autosomes involve chromosomes that are relatively
small and carry fewer genes (the other trisomies are lethal).
4. Changes in the number of X chromosomes are usually nonlethal, due to the formation

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 of inactive Barr bodies. There may be phenotypic consequences due to the expression
of genes early in embryonic development (prior to X inactivation) or from genes in
pseudoautosomal regions.
5. The age of the parents influences the likelihood of aneuploidy (Figure 8.16).
a. An example is Down syndrome, in which the chromosomes do not separate
correctly during anaphase (called nondisjunction). This may be due to the age of
the oocyte, but other factors may also contribute.

8.7 Variation in the Number of Sets of Chromosomes

Variations in Euploidy Occur Naturally in a Few Animal Species

1. Most animals are diploid, and changes in the number of chromosome sets are not
tolerated. Exceptions are:
a. In bees, males are monoploid and females are diploid, a system known as
haplodiploidy.
b. Some vertebrate animals, such as amphibians and reptiles, are polyploid (Figure
8.17).

Variations in Euploidy Can Occur in Certain Tissues Within an Animal

1. Tissues of the body may have normal variations in the number of chromosome sets.
2. Liver cells in humans are triploid, tetraploid, or octoploid. This is called
endopolyploidy.
3. Polytene chromosomes in the salivary glands of Drosophila consist of bundled
replications of chromosomes that lie together in a parallel fashion (Figure 8.18).
a. The central location where replicated chromosome aggregate is called the
chromocenter.

Variations in Euploidy Are Common in Plants

1. Unlike animals, plants commonly exhibit polyploidy.
a. Polyploid plants often have outstanding agricultural characteristics, or produce
large flowers (Figure 8.19).
2. Polyploids with an odd number of chromosome sets are usually sterile, due to the
production of aneuploid gametes (Figure 8.20).
a. Sterility is often selected for in modern agriculture.

8.8 Mechanisms That Produce Variation in Chromosome Number

1. Variations in chromosome number are due to nondisjunction of the chromosomes.

2. Meiotic nondisjunction produces haploid cells with too many or too few
chromosomes.
3. Mitotic nondisjunction produces patches of tissue that have an altered chromosome
number.
4. Interspecies crosses can create alloploids.

Meiotic Nondisjunction Can Produce Aneuploidy or Polyploidy

1. The consequences of meiotic nondisjunction are illustrated in Figure 8.21.

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2. Nondisjunction can occur in meiosis I or II, producing gametes that are either missing
chromosomes, or have extra copies of chromosomes.
3. Complete nondisjunction occurs when all of the chromosomes undergo
nondisjunction.

Mitotic Nondisjunction or Chromosome Loss Can Produce a Patch of Tissue with an

Altered Chromosome Number
1. This form of nondisjunction occurs after fertilization in somatic cells during mitosis
(Figure 8.22). The result is an organism whose contains a group of cells that are
genetically different from one another. This is called mosaicism.
a. The size and location of the mosaic region depend on when and where the event
occurred.

Changes in Euploidy Can Occur by Autopolyploidy, Alloploidy, and Allopolyploidy

1. An autopolyploid refers to an increase in the number of chromosome sets in a single
species (Figure 8.23a).
2. Alloploidy is the result of an interspecies cross (Figure 8.23b).
a. Allodiploids have one set of chromosomes from each parent.
3. Allopolyploid (Figure 8.23c) contains a combination of both alloploidy and
autopolyploidy.
a. An allotetraploid has two complete sets of chromosomes from two species, for a
total of four sets.

Experimental Treatments Can Promote Polyploidy

1. Due to the importance of polyploid and alloploid plants in agriculture, several
mechanisms have been developed to generate these chromosome combinations.
a. The drug colchicine binds to tubulin and interferes with normal chromosome
segregation, thus promoting nondisjunction (Figure 8.24).

List of Key Investigators

Avery, Amos – applied colchicine to plant tissue and, at high doses, were able to cause
complete mitotic nondisjunction and produce polyploidy in plant cells

Balbiani, E.G. – first observed polytene chromosomes in Drosophila

Blakeslee, Alfred - applied colchicine to plant tissue and, at high doses, were able to
cause complete mitotic nondisjunction and produce polyploidy in plant cells

Down, John Langdon – first described the condition known today as Down syndrome

Giemsa, Gustav – invented the dye Giemsa which is used to stain chromosomal regions

Lejeune, Jérôme – identified the chromosomal basis of Down syndrome

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Painter, Theophilus – recognized that the size and morphology of polytene chromosomes
provided geneticists with unique opportunities to study chromosome structure and
gene organization

Penrose, L.S. – discovered an association between maternal age and Down syndrome

Robertson, William – first described the type of fusion in grasshoppers that give rise to
Robertsonian translocations

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