Chromosome Variation

similarly, N2 and T2 have homologous centromeres (between

segments N and O). Normally, homologous centromeres separate and move toward opposite poles in anaphase I of meiosis. With a reciprocal translocation, the chromosomes may
segregate in three different ways. In alternate segregation
(Figure 8.16c), N1 and N2 move toward one pole and T1 and T2
move toward the opposite pole. In adjacent-1 segregation, N1
and T2 move toward one pole and T1 and N2 move toward the
other pole. In both alternate and adjacent-1 segregation, homologous centromeres segregate toward opposite poles. Adjacent-2 segregation, in which N1 and T1 move toward one pole
and T2 and N2 move toward the other, is rare because the two
homologous chromosmes usually separate in meiosis.
The products of the three segregation patterns are illustrated in Figure 8.16d. As you can see, the gametes produced
by alternate segregation possess one complete set of the chromosome segments. These gametes are therefore functional
and can produce viable progeny. In contrast, gametes produced by adjacent-1 and adjacent-2 segregation are not viable, because some chromosome segments are present in
two copies, whereas others are missing. Because adjacent-2
segregation is rare, most gametes are produced by alternate
or adjacent-1 segregation. Therefore, approximately half of
the gametes from an individual heterozygous for a reciprocal
translocation are expected to be functional.

Human chromosome 2

THE IMPORTANCE OF TRANSLOCATIONS IN EVOLUTION

Chromosomes of cells grown in culture sometimes develop

constrictions or gaps at particular locations called fragile
sites (Figure 8.18) because they are prone to breakage under
certain conditions. More than 100 fragile sites have been
identified on human chromosomes.
Fragile sites fall into two groups. Common fragile sites
are present in all humans and are a normal feature of chromosomes. Common fragile sites are often the location of
chromosome breakage and rearrangements in cancer cells,
leading to chromosome deletions, translocations, and other
chromosome rearrangements. Rare fragile sites are found in
few people and are inherited as a Mendelian trait. Rare fragile
sites are often associated with genetic
disorders, such as intellectual disability. Most of them consist of expanding
nucleotide repeats, in which the number of repeats of a set of nucleotides is
increased (see Chapter 18).
One of the most intensively studied rare fragile sites is located on the
human X chromosome and is associated with fragile-X syndrome,
a disorder that includes intellectual

Translocations frequently play an important role in the evolution of karyotypes. Chimpanzees, gorillas, and orangutans
all have 48 chromosomes, whereas humans have 46. Human
chromosome 2 is a large, metacentric chromosome with Gbanding patterns that match those found on two different
acrocentric chromosomes of the apes (Figure 8.17). Apparently, a Robertsonian translocation took place in a human
ancestor, creating a large metacentric chromosome from the
two long arms of the ancestral acrocentric chromosomes,
and a small chromosome consisting of the two short arms.
The small chromosome was subsequently lost, leading to the
reduced chromosome number in humans relative to that of
the other apes. TRY PROBLEM 28
CONCEPTS
In translocations, parts of chromosomes move to other nonhomologous chromosomes or to other regions of the same
chromosome. Translocations can affect the phenotype by
causing genes to move to new locations, where they come
under the inuence of new regulatory sequences, or by
breaking genes and disrupting their function.

Chimpanzee chromosomes

Note that bands on chromosomes

of different species are homologous.

Gorilla chromosomes

Orangutan chromosomes

8.17 Human chromosome 2 contains a Robertsonian

translocation that is not present in chimpanzees, gorillas, or
orangutans. G-banding reveals that a Robertsonian translocation
in a human ancestor switched the long and short arms of the two
acrocentric chromosomes that are still found in the other three
primates. This translocation created the large metacentric human
chromosome 2. Gray connecting lines highlight some, but not all,
regions of homology between the chromosomes.

Fragile Sites

CONCEPT CHECK 4
What is the outcome of a Robertsonian translocation?
a. Two acrocentric chromosomes
b. One large metacentric chromosome and one very small chromosome with two very short arms
c. One large metacentric and one large acrocentric chromosome
d. Two large metacentric chromosomes

8.18 Fragile sites are chromosomal

regions susceptible to breakage under
certain conditions. Shown here is a fragile
site on human chromosome X. [Courtesy of
Dr. Christine Harrison.]

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