3

Cell Division
and Inheritance

Humans have known for centuries that traits are inherited by offspring
from their parents. Through trial and error we have manipulated breeding
to achieve desired characteristics in our animals. We now understand more
about the molecules controlling inheritance and the positive and nega-
Chapter Outline tive effects of humans interacting with animal reproduction (see pages 55
and 56).
3.1 Eukaryotic Chromosomes
Sex Chromosomes and Autosomes
Number of Chromosomes
3.2 The Cell Cycle and Mitotic Cell Division
Reproduction is essential for life. Each organism exists solely because its ancestors
Interphase: Replicating the succeeded in producing progeny that could develop, survive, and reach repro-
Hereditary Material ductive age. At its most basic level, reproduction involves a single cell reproduc-
M-Phase: Mitosis
M-Phase: Cytokinesis
ing itself. For a unicellular organism, cellular reproduction also reproduces the
3.3 Meiosis: The Basis of Sexual organism. For multicellular organisms, cellular reproduction is involved in growth,
Reproduction repair, and the formation of sperm and egg cells that enable the organism to
The First Meiotic Division
The Second Meiotic Division
reproduce.
Spermatogenesis and Oogenesis At the molecular level, reproduction involves the cell’s unique capacity to
3.4 DNA: The Genetic Material manipulate large amounts of DNA, DNA’s ability to replicate, and DNA’s ability to
The Double Helix Model
DNA Replication in Eukaryotes
carry information that will determine the characteristics of cells in the next genera-
Genes in Action tion. Genetics (Gr. gennan, to produce) is the study of how biological informa-
Changes in DNA and Chromosomes tion is transmitted from one generation to the next. Modern molecular genetics
3.5 Inheritance Patterns in Animals
Segregation
provides biochemical explanations of how this information is expressed in an
Independent Assortment organism. It holds the key to understanding the basis for inheritance. Information
Other Inheritance Patterns carried in DNA is manifested in the kinds of proteins that exist in each individual.
The Molecular Basis of Inheritance
Patterns
Proteins contribute to observable traits, such as eye color and hair color, and they
function as enzymes that regulate the rates of chemical reactions in organisms.
Within certain environmental limits, animals are what they are by the proteins that
they synthesize.
At the level of the organism, reproduction involves passing DNA from indi-
viduals of one generation to the next generation. The classical approach to genet-
ics involves experimental manipulation of reproduction and observing patterns of
inheritance between generations. This work began with Gregor Mendel (1822–
1884), and it continues today.
Gregor Mendel began a genetics revolution that has had a tremendous effect
on biology and our society. Genetic mechanisms explain how traits are passed
between generations. They also help explain how species change over time. Genetic
and evolutionary themes are interdependent in biology, and biology without
either would be unrecognizable from its present form. Genetic technologies have
­tremendous potential to improve crop production and health care, but society must
deal with issues related to whole-organism cloning, the use of engineered organ-
isms in biological warfare, and the application of genetic technologies to humans.
This chapter introduces principles of cell division and genetics that are essential to
understand why animals function as they do, and it provides the background infor-
mation to help you understand the genetic basis of evolutionary change that will be
covered in chapters 4 and 5.
 Cell Division and Inheritance 37

3.1 E UKARYOTIC There are five different histone proteins. The amino
acid composition of these proteins creates positive charges
C HROMOSOMES that attract the negative charges of DNA’s phosphate groups.
Some of these proteins form a core particle. DNA wraps in
LEARNING OUTCOMES a coil around the proteins, a combination called a nucleo-
1. Compare structural levels of eukaryotic chromosomes. some (figure 3.1). The fifth histone, sometimes called the
2. Differentiate between sex chromosomes and autosomes linker protein, is not needed to form the nucleosome but may
in a diploid animal. help anchor the DNA to the core and promote the winding of
the chain of nucleosomes into a solenoid. Higher-order fold-
DNA is the genetic material, and it exists with protein in the form ing forms chromatin loops, rosettes, and the final chromo-
of chromosomes in eukaryotic cells. During most of the life of some. The details of this higher-order folding are still under
a cell, chromosomes are in a highly dispersed state called chro- investigation.
matin. During these times, units of inheritance called genes Not all chromatin is equally active. Some human genes,
(Gr. genos, race) may actively participate in the formation of for example, are active only after adolescence. In other cases,
protein. When a cell is dividing, however, chromosomes exist entire chromosomes may not function in particular cells.
in a highly folded and condensed state that allows them to be Inactive portions of chromosomes produce dark band-
distributed between new cells being produced. The structure ing patterns with certain staining procedures and thus are
of these chromosomes will be described in more detail in the called heterochromatic regions, whereas active portions of
discussion of cell division that follows. chromosomes are called euchromatic regions. Alterations
Chromatin consists of DNA and histone proteins. This of chromatin structure including the addition of chemical
association of DNA and protein helps with the complex jobs groups to histone proteins and DNA, removal or reposition-
of packing DNA into chromosomes (chromosome condensa- ing nucleosomes, and hypercondensation of chromatin can
tion) and regulating DNA activity. control chromatin activity.

Rosettes of
Chromosome Chromatin Loop Solenoid
Chromatin Loops

Scaffold protein Scaffold

protein

Chromatin loop

DNA Double Helix (duplex) Nucleosome

Histone core

DNA

FIGURE 3.1 
Organization of Eukaryotic Chromosomes.  Chromosomes consist of long DNA molecules that wrap histone proteins. The DNA and
histone complex is called a nucleosome, and the chain of nucleosomes is coiled into a solenoid. The solenoid is then looped into rosettes
around a scaffold protein. Further compaction results in the eukaryotic chromosome.
38 CHAPTER THREE

Sex Chromosomes and Autosomes to males in this insect species. Chromosomes that are rep-
resented differently in females than in males and function
In the early 1900s, attention turned to the cell to find a chromo- in sex determination are sex chromosomes. Chromosomes
somal explanation for the determination of maleness or female- that are alike and not involved in determining sex are auto-
ness. Some of the evidence for a chromosomal basis for sex somes (Gr. autos, self 1 soma, body).
determination came from work with the insect Protenor. One The system of sex determination described for Protenor is
darkly staining chromosome of Protenor, called the X chro- called the X-O system. It is the simplest system for determining
mosome, is represented differently in males and females. All sex because it involves only one kind of chromosome. Many
somatic (body) cells of males have one X chromosome (XO), other animals (e.g., humans and fruit flies) have an X-Y system
and all somatic cells of females have two X chromosomes of sex determination. In the X-Y system, males and females have
(XX). Similarly, half of all sperm contain a single X, and half an equal number of chromosomes, but the male is usually XY,
contain no X, whereas all female gametes contain a single X. and the female is XX. (In birds, the sex chromosomes are desig-
This pattern suggests that fertilization involving an X-bearing nated Z and W, and the female is ZW.) Even though the X and
sperm will result in a female offspring and that fertilization Y chromosomes are called “sex chromosomes,” they also help
involving a sperm with no X chromosome will result in a determine non-sex-related traits. This is especially true for the
male offspring. As figure 3.2 illustrates, this sex determina- X chromosome of most animals. It is very large and has genes
tion system explains the approximately 50:50 ratio of females that code for many traits. Similarly, autosomal chromosomes
frequently carry genes that influence sexual characteristics. This
mode of sex determination also results in approximately equal
numbers of male and female offspring:
Sperm
X Y
Egg X XX XY
1 female : 1 male

(a) Number of Chromosomes

Even though the number of chromosomes is constant within
Female XX Male XO a species, chromosome number varies greatly among species.
The chromosome number of animals usually varies between
Meiosis
10 and 50.
X X X Chromosomes are present in sets, with the number in a
X set being characteristic of each kind of animal and expressed
All eggs contain a X and no-X sperm as “N.” N identifies the number of different kinds of chro-
(b) single X chromosome
mosomes. Most animals have two sets, or 2N chromosomes.
This is the diploid (Gr. di, two 1 eoides, doubled) condi-
tion. Some animals have only one set, or N chromosomes
(like gametes) and are haploid (Gr. hapl, single) (e.g., male
X Fertilization ­honeybees and some rotifers).
X X Very few animals (e.g., brine shrimp, snout beetles, some
flatworms, and some sow bugs) have more than the diploid
number of chromosomes, a condition called polyploidy
(Gr. polys, more). The upset in numbers of sex chromosomes
XX X
apparently interferes with reproductive success. Asexual repro-
XX zygotes will XO zygotes will
duction often accompanies polyploidy.
(c) develop into females develop into males

SECTION REVIEW 3.1

FIGURE 3.2  In eukaryotic cells, DNA and protein associate in nucleo-
X-O System of Sex Determination for the Insect Protenor.  somes. Further condensation produces chromatin and even­-
(a) Protenor belfragei belongs to a family of plant bugs that feed tually chromosomes. In this condensed state, one can dis-
on plant juices of grasses and sedges. (b) In females, all cells except
gametes possess two X chromosomes. During meiosis, homologous tinguish chromosomes from each other. Sex chromosomes are
X chromosomes segregate, and all eggs contain one X chromosome. represented differently in opposite sexes and autosomes are
Males possess one X chromosome per cell. Meiosis results in half of all similar in members of both sexes.
sperm cells having one X, and half of all sperm cells having no X.
(c) Fertilization results in half of all offspring having one X chromosome Prokaryotic organisms (e.g., bacteria) have c­ hromatin
(males), and half of all offspring having two X chromosomes (females). that remains in a dispersed state throughout their
 Cell Division and Inheritance 39

life cycles. Prokaryotes lack histone proteins and The G1 (first growth or gap) phase represents the early
have much less DNA than do eukaryotes. Why do you growth phase of the cell. During the S (DNA synthesis) phase,
think that the chromatin of all eukaryotic organisms growth continues, but this phase also involves DNA replica-
undergoes condensation? tion. The G2 (second growth or gap) phase prepares the cell for
division. It includes replication of the mitochondria and other
organelles, synthesis of microtubules and protein that will
3.2 T HE C ELL C YCLE AND make up the mitotic spindle fibers, and chromosome conden-
M ITOTIC C ELL D IVISION sation. The M (mitotic) phase includes events associated
with partitioning chromosomes between two daughter cells
LEARNING OUTCOMES and the division of the cytoplasm (cytokinesis).

1. Contrast an embryonic cell and a mature bone cell as Interphase: Replicating

regards cell-cycle activities.
2. Explain why the events of mitotic cell division result in the Hereditary Material
daughter cells being identical to parental cells. Interphase typically occupies about 90% of the total cell cycle.
The life of a cell begins when a parent cell divides to pro- The first portion of interphase is gap phase 1 (G1). It is usually
duce the new cell. The new cell then goes through mainte- the longest interval of interphase and is a period of cell growth
nance and growth processes until it matures and ultimately and the metabolic activities characteristic of the particular cell
divides to produce another generation of two cells. The life type. G1 ends with the beginning of the S phase.
of a cell, from its beginning until it divides to produce the Before a cell divides, an exact copy of the DNA is made
new generation of cells, is called the cell cycle (figure 3.3). during the S (synthesis) phase. This process is called replication,
Mitosis (Gr. mitos, thread) is the distribution of chro- because the double-stranded DNA makes a replica, or dupli-
mosomes between two daughter cells, and cytokinesis cate, of itself. Replication is essential to ensure that each daugh-
(Gr.  kytos, hollow vessel 1 kinesis, motion) is the parti- ter cell receives identical genetic material to that present in the
tioning of the cytoplasm between the two daughter cells. parent cell. The result is a pair of identical sister ­chromatids
­Interphase (L. inter, between) is the time between the end (figure 3.4). A chromatid is a copy of a chromosome pro-
of cytokinesis and the beginning of the next mitotic division. duced by replication. Each chromatid attaches to its other
It is a time of cell growth, DNA synthesis, and preparation for
the next mitotic division. Homologous chromosomes Homologous chromosomes

M Phase

Metaphase
Prometaphase Anaphase Kinetochore

Prophase Telophase
Replication

G2
Centromere
Kinetochores
G1
S Interphase
G2
Mitosis
M Phase
Cytokinesis
S G1 Sister chromatids
Sister chromatids

FIGURE 3.4 
Chromosome Replication and Homologous Chromosomes. 
Chromosome replication occurs during interphase of the cell cycle.
Before replication (S phase of the cell cycle), chromosomes consist
of a single chromatid. Nonreplicated chromosomes are shown
FIGURE 3.3  diagrammatically in a condensed state for comparative purposes.
Life Cycle of a Eukaryotic Cell.  During the G1 phase, cell They would actually be in the form of uncondensed chromatin
components are synthesized and metabolism occurs, often resulting during replication. Following replication, chromosomes consist of two
in cell growth. During the S (synthesis) phase, the chromosomes identical chromatids held together at the centromere. Homologous
replicate, resulting in two identical copies called sister chromatids. chromosomes (described later in this chapter) are represented by red
During the G2 phase, metabolism and growth continue until the and blue colors. These chromosomes carry genes for the same traits;
mitotic phase is reached. This drawing is generalized, and the length one homolog was received from the maternal parent and the other
of different stages varies greatly from one cell to the next. from the paternal parent.
40 CHAPTER THREE

copy, or sister, at a point of constriction called a centromere. M-Phase: Mitosis

The centromere is a specific DNA sequence of about 220
nucleotides and has a specific location on any given chromo- Mitosis is divided into five phases: prophase, prometaphase,
some. Bound to each centromere is a disk of protein called a metaphase, anaphase, and telophase. In a dividing cell, how-
kinetochore, which eventually is an attachment site for the ever, the process is actually continuous, with each phase
microtubules of the mitotic spindle. smoothly flowing into the next (figure 3.5).
The final stage of interphase is gap phase 2 (G2). As the The first phase of mitosis, prophase (Gr. pro, before 1
cell cycle moves into the G2 phase, the chromosomes begin phase), begins when chromosomes become visible with the
condensation. During the G2 phase, the cell also begins to light microscope as threadlike structures. The nucleoli and
assemble the structures that it will later use to move the chro- nuclear envelope begin to break up, and the two centriole pairs
mosomes to opposite poles (ends) of the cell. For example, move apart. By the end of prophase, the centriole pairs are at
centrioles replicate, and there is extensive synthesis of the opposite poles of the cell. The centrioles radiate an array of
proteins that make up the microtubules. microtubules called asters (L. aster, little star), which brace each
The time spent by a cell in interphase varies greatly centriole against the plasma membrane. Between the centrioles,
depending on the cell. Rapidly dividing embryonic cells move the microtubules form a spindle of fibers that extends from pole
very quickly through G1 to S, and again quickly through G2 to to pole. The asters, spindle, centrioles, and microtubules are col-
M. The entire cell cycle may occur within a few minutes time. lectively called the mitotic spindle (or mitotic apparatus).
Rapidly dividing cells produce a many-celled embryo from a Prometaphase follows the break-up of the nuclear
single fertilized egg within hours. On the other hand, maturing envelope. A second group of microtubles attach at one end
cells spend relatively more time in G1 because they are grow- to the kinetochore of each chromatid and to one of the poles
ing and taking on functions of adult cells. Many adult cells are of the cell at the other end of the microtuble. This bipolar
not dividing. Mature bone, muscle, and nerve cells enter G1 attachment of spindle fibers to chromatids is critical to the
and pause. They may remain in this G0 phase indefinitely or movement of the chromatids of each chromosome to oppo-
until cell division is required, for example, to repair an injury. site poles of the cell in subsequent phases of mitosis.

Microtubule-organizing
centers Asters Chromosome

Interphase Early prophase Late prophase

Prometaphase

Late anaphase Early anaphase Metaphase

Cleavage furrow

Telophase
Late telophase Two daughter cells
and
cytokinesis

FIGURE 3.5 
Continuum of Mitosis and Cytokinesis.  Mitosis is a continuous process during which the nuclear parts of a cell divide into two
equal portions. Cytokinesis is the division of the cytoplasm of a cell.
 Cell Division and Inheritance 41

As the dividing cell moves into metaphase (Gr. meta, Sexual reproduction requires a genetic contribution from
after 1 phase), the chromatids (replicated chromosomes) two different sex cells. Egg and sperm cells are specialized
begin to align in the center of the cell, along the spindle equa- sex cells called gametes (Gr. gamete, wife; gametes,
tor. Toward the end of metaphase, the centromeres divide and ­husband). In animals, a male gamete (sperm) unites with
detach the two sister chromatids from each other, although a female gamete (egg) during fertilization to form a single
the chromatids remain aligned next to each other. After the cell called a zygote (Gr. zygotos, yoked together). The
centromeres divide, the sister chromatids are considered full- zygote is the first cell of the new animal. The fusion of
fledged chromosomes (called daughter chromosomes). nuclei within the zygote brings together genetic informa-
During anaphase (Gr. ana, back again 1 phase), the tion from the two parents, and each parent contributes
shortening of the microtubules in the mitotic spindle, and half of the genetic information to the zygote.
perhaps the activity of motor proteins of the kinetochore,
­ To maintain a constant number of chromosomes in the
pulls each daughter chromosome apart from its copy and next generation, animals that reproduce sexually must pro-
moves it toward its respective pole. Anaphase ends when duce gametes with half the chromosome number of their ordi-
all the daughter chromosomes have moved to the poles nary body cells (called somatic cells). All of the cells in the
of the cell. Each pole now has a complete, identical set of bodies of most animals, except for the egg and sperm cells,
chromosomes. have the diploid (2N) number of chromosomes. Gametes are
Telophase (Gr. telos, end 1 phase) begins once the produced by cells set aside for that purpose early in develop-
daughter chromosomes arrive at the opposite poles of the ment. These cells are called germ-line cells and eventually
cell. During telophase, the mitotic spindle disassembles. A undergo a type of cell division called meiosis (Gr. meiosis,
nuclear envelope re-forms around each set of chromosomes, diminution). Meiosis occurs in germ-line cells of the ovaries
which begin to uncoil for gene expression, and the nucleolus and testes and reduces the number of chromosomes to the
is resynthesized. The cell also begins to haploid (1N) number. The nuclei of the two gametes com-
Animation
pinch in the middle. Mitosis is over, but cell Mitotic Cell bine during fertilization and restore the diploid number.
division is not. Division Meiosis begins after the G2 phase in the cell cycle—
after DNA replication. Two successive nuclear divisions, des-
ignated meiosis I and meiosis II, take place. The two nuclear
M-Phase: Cytokinesis divisions of meiosis result in four daughter cells, each with
The final phase of cell division is cytokinesis, in which the half the number of chromosomes of the parent cell. More-
cytoplasm divides. Cytokinesis usually starts sometime dur- over, these daughter cells are not genetically identical. Like
ing late anaphase or early telophase. A contracting belt of mitosis, meiosis is a continuous process, and biologists divide
microfilaments called the contractile ring pinches the plasma it into the phases that follow only for convenience.
membrane to form the cleavage furrow. The furrow deepens,
and two new, genetically identical, daughter cells form.
The First Meiotic Division
In prophase I, chromatin folds and chromosomes become
SECTION REVIEW 3.2 visible under a light microscope (figure 3.6a). Because a cell
Mitotic cell division is the means by which animal cells repro- has a copy of each type of chromosome from each origi-
duce themselves during embryonic development, growth, nal parent cell, it contains the diploid number of chromo-
and repair. Mitotic (nuclear) and cytoplasmic divisions of a somes. Homologous chromosomes (homologues) carry
parent cell produce two daughter cells that are genetically genes for the same traits, are the same length, and have a
identical to the parental cells. similar staining pattern, making them identifiable as matching
pairs (see figure 3.4). During prophase I, homologous chro-
Why is mitotic cell division of a diploid cell useful for
mosomes line up side-by-side in a process called ­synapsis
growth and repair processes but not useful in the pro-
(Gr.  ­synapsis, conjunction), forming a tetrad of chromatids
duction of egg and sperm cells?
(also called a bivalent). The tetrad thus contains the two
homologous chromosomes, one is maternal in origin and
one is paternal in origin (figure 3.7). An elaborate network of
3.3 M EIOSIS: T HE B ASIS protein is laid down between the two homologous chromo-
somes. This network holds the homologous chromosomes in
OF S EXUAL R EPRODUCTION a precise union so that corresponding genetic regions of the
homologous chromosomes are exactly aligned.
LEARNING OUTCOMES Synapsis also initiates a series of events called crossing-
1. Contrast the importance of meiotic cell division and over, whereby the nonsister chromatids of the two homolo-
mitotic cell division in animals. gous chromosomes in a tetrad exchange DNA segments (figure
2. Explain why meiotic cell division produces haploid cells 3.7). This process effectively redistributes genetic information
­after the first and second divisions. among the paired homologous chromosomes and produces
42 CHAPTER THREE

Homologous
chromosomes
pairing

Centriole Centromere

Spindle
Sister microtubule
chromatids

Prophase I Metaphase I Anaphase I

Nuclear
envelope

Telophase I Daughter cells

(a) Meiosis I

Centromere
Centriole

Chromatid
Spindle
microtubule

Prophase II Metaphase II Anaphase II

Chromosome

Telophase II Sex cells

and cytokinesis (gametes)
(b) The first-division daughter cell on the right is followed through the second meiotic division.

FIGURE 3.6 
Meiosis and Cytokinesis. (a) Stages in the first meiotic division. Chromosomes of maternal origin are shown in red. Chromosomes of
paternal origin are shown in blue. Homologous pairs of chromosomes are indicated by differences in size. (b) Stages in the second meiotic
division. One of the two daughter cells from the first division is followed through the second division.

new combinations of genes on the various chromatids in each pair of homologues lines up in the center of the cell,
homologous pairs. Thus, each chromatid ends up with new with centromeres on each side of the spindle equator.
combinations of instructions for a variety of traits. Crossing- Anaphase I begins when homologous chromosomes sep-
over is a form of genetic recombination and is a major arate and begin to move toward each pole. Because the orien-
source of genetic variation in a population of a given species. tation of each pair of homologous chromosomes in the center
In metaphase I, the microtubules form a spindle appa- of the cell is random, the specific chromosomes that each pole
ratus just as in mitosis (see figures 3.4 and 3.5). However, receives from each pair of homologues are also random. This
unlike mitosis, where homologous chromosomes do not pair, random distribution of members of each homologous pair to
 Cell Division and Inheritance 43

Site of crossing-over meiotic and cytoplasmic divisions during which homologous

pairs of chromosomes undergo synapsis, including crossing-
over, followed by the separation of members of each pair into
gametes that have one-half the number of chromosomes of
the parental cells. Fertilization restores the diploid (2N) chro-
mosome number in the zygote.
Why are the events of the first meiotic division so very
FIGURE 3.7 
important in the outcome of the entire meiotic cell divi-
Synapsis and Crossing-Over.  Synapsis is the very tight gene-to- sion process?
gene pairing of homologous chromosomes during prophase I of
meiosis. Molecular interactions between homologous chromosomes
result in the snipping and rejoining of nonsister chromatids and the
exchange of regions of nonsister arms. This exchange of chromatid
arms is called crossing-over. 3.4  DNA: T HE G ENETIC
M ATERIAL
the poles of the cell, along with the genetic recombina-
tion between homologous chromosomes that occurs during LEARNING OUTCOME
­crossing-over (prophase I), means that no two daughter cells
1. Explain the features of DNA that allow it to perform all
produced by meiotic cell division will be identical.
of the four functions required of the genetic molecule.
Meiotic telophase I is similar to mitotic
Animation
telophase. The transition to the second nuclear Crossing-Over Twentieth-century biologists realized that a molecule that
division is called interkinesis. Cells proceed- serves as the genetic material must have certain characteristics
ing through interkinesis do not replicate their Animation to explain the properties of life: First, the genetic material must
DNA. After a varying time period, meiosis II Meiosis I
be able to code for the sequence of amino acids in proteins
occurs. and control protein synthesis. Second, it must be able to repli-
cate itself prior to cell division. Third, the genetic material must
The Second Meiotic Division be in the nuclei of eukaryotic cells. Fourth, it must be able
to change over time to account for evolutionary change. Only
The second meiotic division (meiosis II) resembles an ordi-
one molecule, DNA (deoxyribonucleic acid), fulfills all of these
nary mitotic division (see figure 3.6b), except that the number
requirements.
of chromosomes has been reduced by half. The phases are
prophase II, metaphase II, anaphase II, and
telophase II. At the end of telophase II and Animation
Meiosis II
The Double Helix Model
cytokinesis, the final products of these two
Two kinds of molecules participate in protein synthesis. Both
divisions of meiosis are four new “division Animation are based on a similar building block, the nucleotide, giv-
products.” In most animals, each of these Comparison
of Meiosis and ing them their name—nucleic acids. One of these molecules,
“division products” is haploid and may Mitosis deoxyribonucleic acid or DNA, is the genetic material,
function directly as a gamete (sex cell).
and the other, ribonucleic acid or RNA, is produced in the
nucleus and moves to the cytoplasm, where it participates in
Spermatogenesis and Oogenesis protein synthesis. The study of how the information stored in
The result of meiosis in most animals is the formation of sperm DNA codes for RNA and protein is molecular genetics.
and egg cells. Spermatogenesis produces mature sperm DNA and RNA are large molecules made up of sub-
cells and follows the sequence previously described. All four units called nucleotides (figure 3.8). A nucleotide consists of
products of meiosis often acquire a flagellum for locomotion a nitrogen-­containing organic base in the form of either a
and a caplike structure that aids in the penetration of the egg. ­double ring ­(purine) or a single ring (pyrimidine). Nucleo-
Oogenesis produces a mature ovum or egg. It differs from tides also contain a pentose (five-carbon) sugar and a phos-
spermatogenesis in that only one of the four meiotic products phate (2PO4) group. DNA and RNA molecules, however,
develops into the functional gamete. The other products of mei- differ in several ways. Both DNA and RNA contain the purine
osis are called polar bodies and eventually disintegrate. In some bases adenine and guanine, and the pyrimidine base cytosine.
animals the mature egg is the product of the first ­meiotic divi- The second pyrimidine in DNA, however, is thymine, whereas
sion and only completes meiosis if it is fertilized by a sperm cell. in RNA it is uracil. A second difference between DNA and
RNA involves the sugar present in the nucleotides. The pen-
tose of DNA is deoxyribose, and in RNA it is ribose. A third
SECTION REVIEW 3.3 important difference between DNA and RNA is that DNA is a
Meiotic cell division is the process that results in the forma- double-stranded molecule and RNA is single stranded,
tion of haploid (1N) gametes. Gamete formation involves two although it may fold back on itself and coil.
44 CHAPTER THREE

NH2 O DNA molecule is said to be antiparallel (Gr. anti, against 1

6 7
5 para, beside 1 allelon, of one another). The entire molecule
N N N
1N N HN is twisted into a right-handed helix, with
8
2
one complete spiral every 10 base pairs Animation
4 N9 N N DNA Structure
N N H2N N (figure 3.9b).
3 H H H

Purine Adenine
Guanine
NH2 O O
DNA Replication in Eukaryotes
4
CH3
During DNA replication, each DNA strand is a template for a
3N 5 N HN HN new strand. The pairing requirements between purine and
6
pyrimidine bases dictate the positioning of nucleotides in a new
2
N O N O N O N strand (figure 3.10). Thus, each new DNA molecule contains
1 H H H one strand from the old DNA molecule and one newly synthe-
Pyrimidine Cytosine Uracil Thymine sized strand. Because half of the old mole-
(a) Animation
cule is conserved in the new molecule, DNA
DNA Replication
NH2 replication is said to be semiconservative.

N
N
Genes in Action
N N A gene can be defined as a sequence of bases in DNA that
O
59 codes for the synthesis of one polypeptide, and genes must
–
O P O CH2
somehow transmit their information from the nucleus to
– O
O the cytoplasm, where protein synthesis occurs. The synthe-
49 19
sis of an RNA molecule from DNA is called transcription
39 29
(L. trans, across 1 scriba, to write), and the formation of
OH H a protein from RNA at the ribosome is called translation
(b) Deoxyadenosine-59- (L. trans, across 1 latere, to remain hidden).
monophosphate (dAMP)

FIGURE 3.8  Three Major Kinds of RNA

Components of Nucleic Acids. (a) The nitrogenous bases Each of the three major kinds of RNA has a specific role
in DNA and RNA. (b) Nucleotides form by attaching a nitrogenous in ­protein synthesis and is produced in the nucleus from
base to the 19 carbon of a pentose sugar and attaching a DNA. Messenger RNA (mRNA) is a linear strand that car-
phosphoric acid to the 59 carbon of the sugar. (Carbons of
the sugar are numbered with primes to distinguish them from ries a set of genetic instructions for synthesizing proteins
the carbons of the nitrogenous base.) The sugar in DNA is to the cytoplasm. Transfer RNA (tRNA) picks up amino
deoxyribose, and the sugar in RNA is ribose. In ribose, acids in the cytoplasm, carries them to ribosomes, and
a hydroxyl group (2OH) would replace the hydrogen helps position them for incorporation into a polypeptide.
shaded purple. Ribosomal RNA (rRNA), along with proteins, makes up
ribosomes.
The key to understanding the function of DNA is know-
ing how nucleotides link into a three-dimensional structure. The Genetic Code
The DNA molecule is ladderlike, with the rails of the ladder DNA must code for the 20 different amino acids found in
consisting of alternating sugar-phosphate groups (figure 3.9a). all organisms. The information-carrying capabilities of DNA
The phosphate of a nucleotide attaches at the fifth (59) carbon reside in the sequence of nitrogenous bases. The genetic
of deoxyribose. Adjacent nucleotides attach to one another code is a sequence of three bases—a triplet code. Figure 3.11
by a covalent bond between the phosphate of one nucleo- shows the genetic code as reflected in the mRNA that will
tide and the third (39) carbon of deoxyribose. The pairing be produced from DNA. Each three-base combination is a
of nitrogenous bases between strands holds the two strands codon. More than one codon can specify the same amino
together. Adenine (a purine) is hydrogen bonded to its com- acid because there are 64 possible codons, but only 20
plement, thymine (a pyrimidine), and guanine (a purine) is amino acids. This characteristic of the code is referred to as
hydrogen bonded to its complement, cytosine (a pyrimidine) degeneracy. Note that not all codons code for an amino
(figure 3.9a). Each strand of DNA is oriented such that the acid. The base sequences UAA, UAG, and UGA are all stop
39 carbons of deoxyribose in one strand are oriented in the signals that indicate where polypeptide synthesis should end.
opposite directions from the 39 carbons in the other strand. The base sequence AUG codes for the amino acid methio-
Thus, the two strands of DNA have opposite polarity and the nine, which is a start signal.
 Cell Division and Inheritance 45

2 nm (20 Å)

59 39
Key:
59 O 39
5 Guanine
O
5 Cytosine
0.34 nm
(3.4 Å)
5 Adenine O
O
5 Thymine

O
O
Phosphate
3.4 nm
O (34 Å)
Deoxyribose
O

O
O

O
O

O
39 O 59

(a) (b) 39 59

FIGURE 3.9 
Structure of DNA. (a) Nucleotides of one strand of nucleic acid join by linking the phosphate of one nucleotide to the 39 carbon of an
adjacent nucleotide. Dashed lines between the nitrogenous bases indicate hydrogen bonds. Three hydrogen bonds are between cytosine
and guanine, and two are between thymine and adenine. The antiparallel orientation of the two strands is indicated by using the 39 and 59
carbons at the ends of each strand. (b) Three-dimensional representation of DNA. The antiparallel nature of the strands is indicated by the
curved arrows.

Transcription protein synthesis. Some base sequences in newly transcribed

mRNA do not code for proteins. RNA splicing involves cut-
The genetic information in DNA is not translated directly into
ting out noncoding regions so that the
proteins, but is first transcribed into mRNA. Transcription Animation
mRNA coding region can be read continu-
involves numerous enzymes that unwind a region of a DNA Transcription
ously at the ribosome.
molecule, initiate and end mRNA synthesis, and modify the
mRNA after transcription is complete. Unlike DNA replica-
tion, only one or a few genes are exposed, and only one of Translation
the two DNA strands is transcribed (figure 3.12). Translation is protein synthesis at the ribosomes in the cyto-
One of the important enzymes of this process is RNA plasm, based on the genetic information in the transcribed
polymerase. After a section of DNA is unwound, RNA poly- mRNA. Another type of RNA, called transfer RNA (tRNA), is
merase recognizes a specific sequence of DNA nucleotides. important in the translation process (figure 3.13). It brings
RNA polymerase attaches and begins joining ribose nucleo- the different amino acids coded for by the mRNA into align-
tides, which are complementary to the 39 end of the DNA ment so that a polypeptide can be made. Complementary
strand. In RNA, the same complementary bases in DNA are pairing of bases across the molecule maintains tRNA’s con-
paired, except that in RNA, the base uracil replaces the base figuration. The presence of some unusual bases (i.e., other
thymine as a complement to adenine. than adenine, cytosine, guanine, or uracil) disrupts the nor-
Newly transcribed mRNA, called the primary transcript, mal base pairing and forms loops in the molecule. The center
must be modified before leaving the nucleus to carry out loop (the “anticodon loop”) has a sequence of three unpaired
46 CHAPTER THREE

Second position
U C A G
A T
UUU UCU UAU UGU U
T A Phe Tyr Cys
G C UUC UCC UAC UGC C
C G U Ser
UUA UCA UAA UGA STOP A
1. Original double helix.
Leu STOP
A T
UUG UCG UAG UGG Trp G
A T
T A
CUU CCU CAU CGU U
G C
His
C G
CUC CCC CAC CGC C
Template T A Template Leu Pro Arg
C
2. Strands separate. G C CUA CCA CAA CGA A

Third position
First position
A T Gin
A T
3. Complementary CUG CCG CAG CGG G
T A T A
bases align opposite
templates. C G C G AUU ACU AAU AGU U
G C G C Asn Ser
AUC Ile ACC AAC AGC C
A Thr
G C G C
AUA ACA AAA AGA A
T A T A Lys Arg
4. Enzymes link AUG Met ACG AAG AGG G
T A T A
sugar-phosphate
elements of aligned CG Daughter CG
nucleotides into a GUU GCU GAU GGU U
G C
helices G C
continuous new strand. Asp
G C G C GUC GCC GAC GGC C
C G C G G Val Ala Gly
GUA GCA GAA GGA A
A T A T
Glu
GUG GCG GAG GGG G

Ala = Alanine Leu = Leucine

Templates Arg = Arginine Lys = Lysine
Asn = Aparagine Met = Methionine
New strands Asp = Aspartic acid Phe = Phenylalanine
Cys = Cysteine Pro = Proline
FIGURE 3.10  Gin = Glutamine Ser = Serine
Glu = Glutamic acid Thr = Threonine
DNA Replication. (1) Replication begins simultaneously at many Gly = Glycine Trp = Tryptophan
initiation sites along the length of a chromosome, and replication His = Histidine Tyr = Tyrosine
proceeds in both directions from the initiation site. Only one Ile = Isoleucine Val = Valine
direction is shown here for simplicity. (2) An enzyme causes the
double helix to unwind and the two strands to separate. Each FIGURE 3.11 
original strand serves as a template for the synthesis of a new
Genetic Code.  Sixty-four mRNA codons are shown here. The
strand. (3) Other enzymes help align nucleotides with exposed,
first base of the triplet is on the left side of the figure, the second
unpaired bases on the unwound portions of the original DNA and
base is at the top, and the third base is on the right side. The
(4) link nucleotides into continuous new strands.
abbreviations for amino acids are also shown. In addition to coding
for the amino acid methionine, the AUG codon is the initiator
codon. Three codons—UAA, UAG, and UGA—do not code for an
bases called the anticodon. During translation, pairing of amino acid but act as a signal to stop protein synthesis.
the mRNA codon with its complementary anticodon of tRNA
appropriately positions the amino acid that tRNA carries. acids are now side-by-side in the P and A sites (figure 3.14).
Ribosomes, the sites of protein synthesis, consist of large This step requires enzyme aid and energy, in the form of gua-
and small subunits that organize the pairing between the codon nine triphosphate (GTP). An enzyme (peptidyl ­ transferase),
and the anticodon. Several sites on the ribosome are binding which is actually a part of the larger ribosomal subunit,
sites for mRNA and tRNA. At the initiation of translation, mRNA breaks the bond between the amino acid and tRNA in the P
binds to a small, separate ribosomal subunit. Attachment of site, and catalyzes the formation of a peptide bond between
the mRNA requires that the initiation codon (AUG) of mRNA that amino acid and the amino acid in the A site.
be aligned with the P (peptidyl) site of the ribosome. A tRNA The mRNA strand then moves along the ribosome a dis-
with a complementary anticodon for methionine binds to the tance of one codon. The tRNA with two amino acids attached
mRNA, and a large subunit joins, forming a complete ribosome. to it that was in the A site is now in the P site. A third tRNA
Polypeptide formation can now begin. Another site, can now enter the exposed A site. This process continues
the A (aminoacyl) site, is next to the P site. A second tRNA, until the entire mRNA has been translated, and a polypeptide
whose anticodon is complementary to the codon in the A site, chain has been synthesized. Translation ends when a termi-
is positioned. Two tRNA molecules with their attached amino nation codon (e.g., UAA) is encountered.
 Cell Division and Inheritance 47

Protein synthesis often occurs on ribosomes on the sur- moved to the Golgi apparatus for packaging Animation
face of the rough endoplasmic reticulum. The positioning into a secretory vesicle or into a lysosome. Translation

of ribosomes on the ER allows proteins to move into the ER

as the protein is being synthesized. The protein can then be
Changes in DNA and
Chromosomes
39
The genetic material of a cell can change, and these changes
increase genetic variability and help increase the likelihood
G C
59 of survival in changing environments. These changes include
A T
alterations in the base sequence of DNA and changes that
T A
alter the structure or number of chromosomes.
C G

T A
Point Mutations
G C Genetic material must account for evolutionary change. Point
A T mutations are changes in nucleotide sequences and may
C G RNA result from the replacement, addition, or deletion of nucleo-
polymerase tides. Mutations are always random events. They may occur
A T
spontaneously as a result of base-pairing errors during rep-
G 39 C
lication, which result in a substitution of one base pair for
C C G
another. Although certain environmental factors (e.g., electro-
T U A
magnetic radiation and many chemical mutagens) may change
G G C
mutation rates, predicting what genes will be affected or what
A A T
Template the nature of the change will be is impossible.
Nontemplate C C G
DNA
DNA strand T U A strand
(not transcribed) G G C (transcribed)
G G C

A A T Asn
Amino acid
C C G A
T U A
C 39 end
C
.. A
G G C
59 end G . C
A A T
G ..
. C
C C ..
. G
..
U G . C
A A .. U
A T ..
U A
..
C G C G . C U U A
A U U A GGCC
G C G CGAG G

..
...
...
...
...
59 D loop U C CG G
T A C
...
...
..
..
.

RNA G
A GC UC C
G ..
G C
C . GAG T loop
U .. A
..
A T C . G
..
C . G
T A ..
59 C . G
C
U
Unusual
U
bases
U A
39 U
Anticodon
Translation (in cytoplasm) loop

DNA replication
Transcription (in nucleus)
FIGURE 3.13 
Structure of Transfer RNA.  Diagrammatic representation of the
secondary structure of transfer RNA (tRNA). An amino acid attaches
FIGURE 3.12  to the 39 end of the molecule. The anticodon is the sequence of
Transcription.  Transcription involves the production of an mRNA three bases that pairs with the codon in mRNA, thus positioning
molecule from the DNA segment. Note that transcription is similar the amino acid that tRNA carries. Other aspects of tRNA structure
to DNA replication in that the molecule is synthesized in the position the tRNA at the ribosome and in the enzyme that attaches
59 to 39 direction. the correct amino acid to the tRNA.
48 CHAPTER THREE

P site
Ribosome

A site
mRNA
mRNA
A U G G G A U G U A A G C G A A
A U G G G A U G U A A G C G A A

C C U A C A
U A C
U

tRNA Glycine
C C

Cysteine
(a) Methionine
ci ne
Gly
(d) Methionine

A U G G G A U G U A A G C G A A
mRNA
U A C C C U A U G G G A U G U A A G C G A A

A C A U U C
U
C
C
Glycine
Methionine
(b) Amino acid chain Cysteine Lysine
cine
Gly
(e) Methionine

mRNA
A U G G G A U G U A A G C G A A

C C U
C
A
U
A
C
A

Glycine
e

e
ionin
in

(c) Meth
te
ys
C

FIGURE 3.14 
Events of Translation. (a) Translation begins when a methionine tRNA associates with the P site of the smaller ribosomal subunit and
the initiation codon of mRNA associated with that subunit. The larger ribosomal subunit attaches to the small subunit/tRNA complex.
(b) A second tRNA carrying the next amino acid enters the A site. A peptide bond forms between the two amino acids, freeing the first tRNA
in the P site. (c) The mRNA, along with the second tRNA and its attached dipeptide, moves the distance of one codon. The first tRNA is
discharged, leaving its amino acid behind. The second tRNA is now in the P site, and the A site is exposed and ready Animation
to receive another tRNA-amino acid. (d) A second peptide bond forms. (e) This process continues until an mRNA stop Translation of
mRNA
signal is encountered.
 Cell Division and Inheritance 49

2N cell with
homologous chromosomes

Meiosis I

Nondisjunction

Meiosis II
Nondisjunction Normal
disjunction

N 1 1 gametes N 2 1 gametes N 1 1 gametes N 2 1 gametes Normal N gametes

(a) Nondisjunction in Meiosis I (b) Nondisjunction in Meiosis II

FIGURE 3.15 
Results of Primary and Secondary Nondisjunction in Gamete Formation. (a) Primary nondisjunction occurs in meiosis I and results
from the failure of homologous pairs to separate normally. Both members of the homologous pair of chromosomes end up in one cell. A
normal second meiotic division results in half of all gametes having both members of the homologous pair of chromosomes (N 1 1). The
other half of all gametes lacks members of this pair of homologous chromosomes (N 2 1). (b) Secondary nondisjunction occurs after a normal
first meiotic division. The failure of chromatids of one chromosome to separate in the second division means that a fourth of the gametes will
be missing a member of one homologous pair (N 2 1), and a fourth of the gametes will have an extra member of that homologous pair
(N 1 1). This illustration assumes that the second cell that resulted from meiosis I undergoes a normal second meiotic division.

Chapters 4 and 5 describe mutations as the fuel for the the normal 2N chromosome number (2N 1 1) is a trisomy
evolution of populations because they are the only source for (Gr. tri, three 1 ME some, a group of), and the deletion of
new genetic variations. Point mutations and crossing-over are a chromosome from the normal 2N chromosome number
two sources of genetic variations covered thus far in this (2N 2 1) is a monosomy (Gr. monos, single).
­chapter. Mutations are the only source of new genetic mate- Errors during meiosis usually cause aneuploidy. Non-
rial. For individuals, mutations can be a source of great suf- disjunction occurs when a homologous pair fails to segre-
fering because mutations in genes that disturb the structure of gate during meiosis I or when chromatids fail to separate at
proteins that are the products of millions of years of evolu- meiosis II (figure 3.15). Gametes produced either lack one
tion are usually negative and cause many of our genetic dis- chromosome or have an extra chromosome. If one of these
eases. The majority of mutations arise in body cells. These gametes is involved in fertilization with a normal gamete, the
often remain hidden and cause no problems for the individ- monosomic or trisomic condition results. Aneuploid varia-
ual because either they are within a gene that is not being tions usually result in severe consequences involving mental
expressed in the cell or they may be altering the structure of retardation and sterility.
DNA that is not coding for a protein. We all harbor hundreds
of millions of these somatic mutations. The only mutations Variation in Chromosome Structure
that affect future generations are those
Animation Some changes may involve breaks in chromosomes. After
that arise in germ cells of the testes or Addition and Deletion
breaking, pieces of chromosomes may be lost, or they may
ovaries. Mutations
reattach, but not necessarily in their original position. The
result is a chromosome that may have a different sequence
Variation in Chromosome Number of genes, multiple copies of genes, or missing genes. All of
Changes in chromosome number may involve entire sets these changes can occur spontaneously. Various environ-
of chromosomes, as in polyploidy, which was discussed mental agents, such as ionizing radiation and certain chemi-
earlier. Aneuploidy (Gr. a, without), on the other hand, cals, can also induce these changes. The effects of changes in
involves the addition or deletion of one or more chromo- chromosome structure may be mild or severe, depending on
somes, not entire sets. The addition of one chromosome to the amount of genetic material duplicated or lost.
50 CHAPTER THREE

SECTION REVIEW 3.4 (Sex comb)

DNA is the genetic material. It is a double-stranded mol-

ecule in which nucleotides are joined to form each strand
and the two strands are held together by hydrogen bonds
between complementary bases. In DNA replication, each
strand serves as a template for the synthesis of a new
strand. DNA can code for protein because one strand has
a sequence of bases that codes for a sequence of amino
acids. Changes in base sequence, or in the number or struc-
ture of chromosomes, create new variations that fuel evo-
lutionary change.
One strand of DNA has the base sequence 39AGTGCATTC59.
Write the sequence of bases in the second strand. U
­ sing (a) (b)
the strand provided here as a template, show the mRNA FIGURE 3.16 
produced in transcription and the sequence of amino
Distinguishing Sexes and Phenotypes of Drosophila
acids ­produced in translation. melanogaster. (a) Male with wild-type wings and wild-type eyes.
(b) Female with vestigial wings and sepia eyes. In contrast to the
female, the posterior aspect of the male’s abdomen has a wide,
3.5 I NHERITANCE P ATTERNS dark band and a rounded tip.

IN A NIMALS
LEARNING OUTCOMES homologous chromosomes move toward opposite poles of
the cell, and the resulting gametes have only one member of
1. Solve genetics problems by applying the principles of each chromosome pair. Genes carried on one member of a
segregation and independent assortment. pair of homologous chromosomes end up in one gamete, and
2. Predict the results of crosses involving incompletely dom- genes carried on the other member are segregated into a differ-
inant and codominant alleles. ent gamete. The principle of segregation states that pairs of
genes are distributed between gametes during gamete forma-
Classical genetics began with the work of Gregor Mendel tion. Fertilization results in the random combination of gametes
and ­ remains an important basis for understanding gene and brings homologous chromosomes together again.
transfer between generations of animals. Understanding A cross of wild-type fruit flies with flies having ves-
these genetics principles helps us predict how traits will tigial wings illustrates the principle of segregation. (The
be expressed in offspring before these offspring are pro- flies come from stocks that have been inbred for genera-
duced, something that has had profound implications in tions to ensure that they breed true for wild-type wings or
agriculture and medicine. One of the challenges of mod- vestigial wings.) The offspring (progeny) of this cross have
ern genetics is to understand the molecular basis for these wild-type wings and are the first generation of offspring,
inheritance patterns. or the first filial (F1) generation (figure 3.17). If these flies
The fruit fly, Drosophila melanogaster, is a classic are allowed to mate with each other, their progeny are
tool for studying inheritance patterns. Its utility stems from the second filial (F2) generation. Approximately a fourth
its ease of handling, short life cycle, and easily recognized of these F2 generation of flies have vestigial wings, and
characteristics. three-fourths have wild-type wings (figure 3.17). Note that
Studies of any fruit-fly trait always make comparisons the vestigial characteristic, although present in the parental
to a wild-type fly. If a fly has a characteristic similar to that generation, disappears in the F1 generation and reappears
found in wild flies, it is said to have the wild-type expression in the F2 generation. In addition, the ratio of wild-type flies
of that trait. (In the examples that follow, wild-type wings lay to vestigial-winged flies in the F2 generation is approxi-
over the back at rest and extend past the posterior tip of the mately 3:1. Reciprocal crosses, which involve the same
body, and wild-type eyes are red.) Numerous mutations from characteristics but a reversal of the sexes of the individu-
the wild-type body form, such as vestigial wings (reduced, als introducing a particular expression of the trait into the
shriveled wings) and sepia (dark brown) eyes, have been cross, yield similar results.
described (figure 3.16). Genes that determine the expression of a particular
trait can exist in alternative forms called alleles (Gr. allelos,
each other). In the fruit-fly cross, the vestigial allele is pres-
Segregation ent in the F1 generation, and even though it is masked by
During gamete formation, genes in each parent are incorpo- the wild-type allele for wing shape, it retains its uniqueness
rated into separate gametes. During anaphase I of meiosis, because it is expressed again in some members of the F2
 Cell Division and Inheritance 51

description of the dominant allele commonly is used. In fruit

flies, and other organisms where all mutants are compared
P with a wild-type, the symbol is taken from the allele that was
vg1 vg1 vg vg
derived by a mutation from the wild condition. A superscript “1”
next to the symbol represents the wild-type allele. A capi-
tal letter means that the mutant allele being represented is
dominant, and a lowercase letter means that the mutant allele
being represented is recessive.
F1 Geneticists use the Punnett square to help predict the
results of crosses. Figure 3.18 illustrates the use of a Punnett
square to predict the results of the cross of two F1 flies. The

vg1 vg

F2

Parents:

or vg 1 vg vg 1 vg
vg1 vg vg1 vg1 vg vg

Gametes:
FIGURE 3.17 
Cross Involving a Single Trait.  Cross between parental flies (P)
with wild-type (vg1) wings and vestigial (vg) wings, carried through
two generations (F1 and F2). vg 1 vg vg 1 vg

Offspring: Female gametes

generation. Dominant alleles hide the expression of another vg1 vg
allele; recessive alleles are those whose expression can
1 1 1
vg vg vg vg1 vg
be masked. In the fruit-fly example, the wild-type allele is Male
dominant because it can mask the expression of the vestigial gametes
vg vg1 vg vg vg
allele, which is therefore recessive.
The visual expression of alleles may not always indicate
the underlying genetic makeup of an organism. This visual 3 wild-type 1 vestigial
expression is the phenotype, and the genetic makeup is the
genotype. In the example, the flies of the F1 generation have
the same phenotype as one of the parents, but they differ geno-
typically because they carry both a dominant and recessive
allele. They are hybrids, and because this cross concerns only
one pair of genes and a single trait, it is a monohybrid cross
(Gr. monos, one 1 L. hybrida, offspring of two kinds of parents).
An organism is homozygous (L. homo, same 1 Gr.
zygon, paired) if it carries two identical genes for a given trait
and ­heterozygous (Gr. heteros, other) if the genes are dif-
ferent (alleles of each other). Thus, in the example, all mem- FIGURE 3.18 
bers of the parental generation are homozygous because only Use of a Punnett Square.  A Punnett square helps predict the
truebreeding flies are crossed. All members of the F1 genera- results of a cross. The kinds of gametes that each member of a cross
produces are determined and placed along the axes of a square.
tion are heterozygous. Combining gametes in the interior of the square shows the results of
Crosses are often diagrammed using a letter or let- mating: a phenotypic ratio of three flies with wild-type wings (vg1)
ters descriptive of the trait in question. The first letter of the to one fly with vestigial wings (vg).
52 CHAPTER THREE

first step is to determine the kinds of gametes that each par- meiosis, maternal and paternal chromosomes are distributed
ent produces. One of the two axes of a square is designated randomly among cells.
for each parent, and the different kinds of gametes each par- This independent assortment of maternal and paternal
ent produces are listed along the appropriate axis. Combin- chromosomes is the third source of genetic variation covered
ing gametes in the interior of the square shows the results in this chapter. Independent assortment as well as crossing-
of random fertilization. As figure 3.18 indicates, the F1 flies over and point mutations provide the genetic variation upon
are heterozygous, with one wild-type allele and one vestigial which evolutionary processes act (see chapters 4 and 5).
allele. The two phenotypes of the F2 generation are shown
inside the Punnett square and are in a 3:1 ratio.
The phenotypic ratio expresses the results of a cross Other Inheritance Patterns
according to the relative numbers of progeny in each visu- The traits considered thus far have been determined by two
ally distinct class (e.g., 3 wild-type:1 vestigial). The Pun- genes, where one allele is dominant to a second. In this sec-
nett square has thus explained in another way the F2 tion, you learn that there are often many alleles in a popula-
results in figure 3.17. It also shows that F2 individuals may tion and that not all traits are determined by an interaction
have one of three different genotypes. The genotypic between a single pair of dominant or recessive genes.
ratio expresses the results of a cross according to the rela-
tive numbers of progeny in each genotypic category (e.g.,
1 vg1vg1:2 vg1vg:1 vgvg). Multiple Alleles
Two genes, one carried on each chromosome of a homolo-
gous pair, determine traits in one individual. A population,
Independent Assortment on the other hand, may have many different alleles with the
It is also possible to make crosses using flies with two pairs potential to contribute to the phenotype of any member of
of characteristics: flies with vestigial wings and sepia eyes, the population. These are called multiple alleles.
and flies that are wild for these characteristics. Sepia eyes are Genes for a particular trait are at the same position on
dark brown, and wild-type eyes are red. Figure 3.19 shows a chromosome. The gene’s position on the chromosome is
the results of crosses carried through two generations. called its locus (L. loca, place). Numerous human loci have
Note that flies in the parental generation are homozy- multiple alleles. Three alleles, symbolized I A, I B, and i, deter-
gous for the traits in question and that each parent produces mine the familiar ABO blood types. Table 3.1 shows the
only one kind of gamete. Gametes have one allele for each combinations of alleles that determine a person’s phenotype.
trait. Because each parent produces only one kind of gamete, Note that i is recessive to I A and to I B. I A and I B, however, are
fertilization results in offspring heterozygous for both traits. neither dominant nor recessive to each other. When I A and I B
The F1 flies have the wild-type phenotype; thus, wild-type are present together, both are expressed.
eyes are dominant to sepia eyes. The F1 flies are hybrids, and
because the cross involves two pairs of genes and two traits, Incomplete Dominance and Codominance
it is a dihybrid cross (Gr. di, two 1 L. hybrida, offspring of Incomplete dominance is an interaction between two alleles
two kinds of parents). that are expressed more or less equally, and the heterozygote
The 9:3:3:1 ratio is typical of a dihybrid cross. Dur- is different from either homozygote. For example, in cattle,
ing gamete formation, the distribution of genes determining the alleles for red coat color and for white coat color interact
one trait does not influence how genes determining the to produce an intermediate coat color called roan. Because
other trait are distributed. In the example, this means that neither the red nor the white allele is dominant, uppercase
an F1 gamete with a vg1 gene for wing condition may also letters and a prime or a superscript are used to represent
have either the se gene or the se1 gene for eye color, as the genes. Thus, red cattle are symbolized RR, white cattle are
F1 gametes of figure 3.19 show. Note that all combinations symbolized R9R9, and roan cattle are symbolized RR9.
of the eye color and wing condition genes are present, and Codominance occurs when the heterozygote expresses
that all combinations are equally likely. This illustrates the the phenotypes of both homozygotes. Thus, in the ABO
principle of independent assortment, which states that, blood types, the I AI B heterozygote expresses both alleles.
during gamete formation, pairs of factors segregate inde-
pendently of one another.
The events of meiosis explain the principle of inde- The Molecular Basis
pendent assortment (see figure 3.6). Cells produced during
meiosis have one member of each homologous pair of chro-
of Inheritance Patterns
mosomes. Independent assortment simply means that when Just as the principles of segregation and independent
homologous chromosomes line up at metaphase I and then assortment can be explained based on our knowledge of
segregate, the behavior of one pair of chromosomes does not the events of meiosis, concepts related to dominance can
influence the behavior of any other pair (figure 3.20). After be explained in molecular terms. When we say that one
 Cell Division and Inheritance 53

Parental
generation:

vg 1 vg 1 vg vg

se 1 se 1 se se

vg 1 se 1 vg se

Gametes

F 1 generation:

vg 1 vg

Dihybrid F 1 mating se 1 se
(brother-sister)

Male gametes Female gametes

vg 1 se 1 vg 1 se vg se 1 vg se vg 1 se 1 vg 1 se vg se 1 vg se

Female gametes
vg 1 ; se 1 vg 1 ; se vg ; se 1 vg ; se
F 2 generation:
vg 1 vg1; vg 1 vg1; vg 1 vg; vg 1 vg;
vg 1 ; se 1 se 1 se 1 se 1 se se 1 se 1 se 1 se
vg 1 vg1; vg 1 vg1; vg 1 vg; vg 1 vg;
vg 1 ; se se se 1 se se se se 1 se se
Male
gametes vg 1 vg; vg vg1; vg vg; vg vg;
vg ; se 1 se 1 se 1 se 1 se se 1 se 1 se 1 se
vg 1vg; vg vg1; vg vg; vg vg;
vg ; se se se 1 se se se se 1 se se

Phenotypic ratio
9 wild-type wing (vg 1 ); wild-type eye (se 1 )
3 wild-type wing; sepia eye (se)
3 vestigial wing (vg); wild-type eye
1 vestigial wing; sepia eye

FIGURE 3.19 
Constructing a Punnett Square for a Cross Involving Two Characteristics.  Note that every gamete has one allele for each trait and
that all combinations of alleles for each trait are represented.
54 CHAPTER THREE

allele is dominant to another, we do not mean that the

recessive allele is somehow “turned off ” when the domi-
Diploid Cell (2N 5 4) nant allele is present. Instead, the product of a gene’s func-
tion is the result of a sequence of metabolic steps mediated
by enzymes, which are encoded by the gene(s) in ques-
(a) tion. A functional enzyme is usually encoded by a domi-
nant gene, and when that enzyme is present a particular
product is produced. A recessive allele usually arises by a
mutation of the dominant gene, and the enzyme necessary
Prophase I: Synapsis of for the production of the product is altered and does not
homologous chromosomes function. In the homozygous dominant state, both domi-
nant genes code for the enzyme that produces the product
(b) (figure 3.21a). In the heterozygous state, the activity of
the single dominant ­allele is sufficient to produce enough
enzyme to form the product and the dominant phenotype
(figure 3.21b). In the homozygous recessive state, no prod-
uct can be formed and the r­ecessive phenotype results
(figure 3.21c).
In the same way, one can explain incomplete domi-
nance and codominance. In these cases both alleles of
(c) a heterozygous individual produce approximately equal
Possible combinations of chromosomes in haploid cells after seg-
regation of homologous chromosomes during meiosis I. All possible
combinations of one member of each pair are represented.

Homozygous Dominant

A
Enzyme a
Substrate Product 5 Dominant
phenotype
A
(d) (a)
Meiosis II results in separation of chromatids but no
further reduction in chromosome number.

FIGURE 3.20  Heterozygous

Independent Assortment of Chromosomes during
A
Meiosis.  Color distinguishes maternal and paternal chromosomes. Enzyme a
Similar size and shape indicate homologous chromosomes. (a) This Substrate Product 5 Dominant
cell has a diploid (2N) chromosome number of four. (b) During phenotype
the first meiotic division, one homologous pair of chromosomes No enzyme a
(and hence, the genes this pair carries) is segregated without Substrate No product
a
regard to the movements of any other homologous pair. (c) Thus,
all combinations of large and small chromosomes in the cells are (b)
possible at the end of meiosis I. (d) Meiosis II simply results in the
separation of chromatids without further reduction in chromosome
number. Most organisms have more than two pairs of homologous Homozygous Recessive
chromosomes in each cell. As the number of homologous pairs
increases, the number of different kinds of gametes also increases. a
No enzyme a
Substrate No product 5 Recessive
TABLE 3.1 a phenotype
GENOTYPES AND PHENOTYPES IN THE ABO BLOOD GROUPS
(c)
GENOTYPE(S) PHENOTYPE
FIGURE 3.21 
The Molecular Basis of Dominance. (a) In a homozygous
IAIA, IAi A dominant individual, both dominant genes code for enzymes
IBIB, IBi B that produce the product and the dominant phenotype. (b) In
the heterozygous state, the single dominant allele is sufficient to
IAIB A and B produce enough enzyme to form the product and the dominant
ii O phenotype. (c) In the homozygous recessive state, no product can
be formed and the recessive phenotype results.
 Cell Division and Inheritance 55

How Do We Know—Inbreeding for

Speed Hurts

C alifornia Chrome, North-

ern Dancer, Seattle Slew,
Secretariat, and all the
other horses in the Thorough-
bred breed have been bred for
of one another—a potentially dan-
gerous situation.
Breeding for speed is not breed-
ing for health. Large powerful mus-
cles acting on slim legs and small
breed and possibly a greater sus-
ceptibility to disease as compared to
other breeds of horses. Apparently
breeding for speed is not breeding
for durability.
speed. They all trace their genetic hooves create legs that are more There has been an explosion
makeup back to three stallions in likely to break when hooves strike of genetic research searching for
England in the early 1700s. They the track (Barbaro, 2006 Preak- the genetic basis of traits that have
are fast, they command stud fees ness Stakes and Eight Belles, 2008 accumulated over centuries of
that have soared up to $1 million, Kentucky Derby) and leg bones inbreeding. The horse genome has
and their foals sell for as much as that chip at the joints. The lungs of been sequenced, and gene chips
$13 million. Inbreeding for speed Thoroughbreds bleed and wheeze are being developed to screen
may be killing the breed. Recent in an effort to get adequate air into horses for genetic defects. It is yet to
genetic analysis has revealed that the lungs. Inbreeding is also sus- be seen whether this information will
­Thoroughbreds are so genetically pected as the cause of a higher rate be used to breed for health or faster
similar that they are almost clones of infertility and miscarriage in this finishes.

quantities of two enzymes and products, and the pheno- the distribution of genes determining one trait does not influ-
type that results would either be i­ntermediate or show the ence how genes for a second trait are distributed. These
products of both alleles. principles permit us to predict the results of genetic crosses.
The presence of multiple alleles, incomplete dominance, and
codominance influences how one interprets the results of
SECTION REVIEW 3.5 genetic crosses, but the cellular events involved with the seg-
regation and independent assortment still govern how these
Classical genetics involves studying the transfer of genes
traits are inherited.
between generations of animals. The principle of segregation
describes the separation of two genes coding for the same What events of meiotic cell division are reflected
trait into separate gametes. The principle of independent in the principles of segregation and independent
assortment describes the fact that during gamete formation, assortment?

WILDLIFE ALERT
Preserving Genetic Diversity
One of the ways in which scientists evaluate the environmental of the species. Near-extinction events, in which many individu-
health of a region is to assess the variety of organisms present in als die, eradicate many alleles from populations (see figure 5.2).
an area. Environments that have a great variety or diversity in spe- Lowered numbers of individuals result in inbreeding, which also
cies are usually considered healthier than environments with less reduces genetic diversity. The result is that populations that survive
diversity. Diversity can be reduced through habitat loss, the exploi- near-extinction events tend to be genetically uniform. The effect
tation of animals or plants through hunting or harvesting, and the of genetic uniformity on populations is nearly always detrimental
introduction of foreign species. because when environmental conditions change, entire popula-
Another criterion used to evaluate environmental health is tions can be adversely affected. For example, if one individual in
genetic diversity. Genetic diversity is the variety of alleles within a genetically uniform population is susceptible to a particular dis-
a species. When a species on the brink of extinction is preserved, ease, all individuals will be susceptible, and the disease will spread
reduced genetic diversity within the species threatens the health very quickly. High genetic diversity improves the likelihood that
(Continued)
56 CHAPTER THREE

WILDLIFE ALERT Continued

some individuals will survive the disease outbreak, and the species
will be less likely to face extinction. Since mutation is the ultimate
source of new variation within species, lost genetic diversity can
only be replaced over evolutionary timescales. For all practical pur-
poses, when genetic diversity is lost, it is gone forever.
Conservation geneticists evaluate the genetic health of popu-
lations of organisms and try to preserve the genetic variation that
exists within species. These efforts involve the use of virtually every
genetic tool available to modern science, including the molecu-
lar techniques for studying DNA and the proteins of endangered
organisms. Conservation geneticists search native populations for
individuals that could be used to enhance the genetic makeup of
endangered organisms. They recommend breeding programs to
preserve alleles that could easily be lost. Many zoos throughout the
world cooperate in breeding programs that exchange threatened
animals, or gametes from threatened animals, to preserve alleles.
One example of a conservation program attempting to pre-
serve an endangered species is focused on the snow leopard
(Panthera uncia). There are between 4,000 and 6,500 snow
leopards distributed throughout the mountains of central Asia,
where they live at altitudes between 2,000 and 5,000 meters.
Poaching the snow leopard to supply its coat for black-market
trade and bones and other body parts for use in traditional
Asian medicine are serious threats to the cats that remain.
Hunting wild prey and habitat destruction for farming and
grazing livestock also threaten these cats (box figure 3.1).
Unfortunately, when the blue sheep (Pseudois nayaur) and
ibex (Capra sibirica) prey become scarce snow leopards prey
on livestock, which often results in retribution killing of snow
leopards by farmers. Because of these threats to the snow leop-
ards, many of those living do not have a reasonable chance
at successfully reproducing. The effective population size of
snow leopards takes into account the likelihood of successful
reproduction and is probably closer to 2,500 individuals. The
American Zoo and Aquarium Association is coordinating an
effort to maintain genetic diversity among the snow leopards
in captivity in North America. At the same time, conservation BOX FIGURE 3.1    Snow leopard (Panthera uncia).
organizations are helping farmers and herders understand how
to live with these cats by securing barns and livestock holding Conference on Range-wide Conservation Planning for Snow
areas from these cats and reimbursing farmers for livestock lost Leopards formulated a National Action Plan for preserving this
to predation by the snow leopard. In 2008, the International majestic cat species.

S UMMARY 3.2 The Cell Cycle and Mitotic Cell Division

The replication of DNA and its subsequent allocation to daugh-
3.1 Eukaryotic Chromosomes ter cells during mitotic cell division involves a number of phases
Eukaryotic chromosomes are complexly coiled associations of collectively called the cell cycle. The cell cycle is that period
DNA and histone proteins. from the time a cell is produced until it completes mitosis.
The presence or absence of certain chromosomes that are Mitosis maintains the parental number of chromosome sets
represented differently in males and females determines the in each daughter nucleus. It separates the sister chromatids
sex of an animal. The X-Y system of sex determination is of each (replicated) chromosome for distribution to daughter
most common. nuclei.
 Cell Division and Inheritance 57

Interphase represents about 90% of the total cell cycle. It to the phenotype. Codominance is an interaction between
includes periods of cell growth and normal cell function. It two alleles in which both alleles are expressed in the
also includes the time when DNA is replicated. heterozygote.
Mitosis is divided into five phases. During prophase, the Patterns of inheritance observed at an organismal level are
mitotic spindle forms and the nuclear envelope disintegrates. ­explained at a molecular level by the presence or absence
During prometaphase the microtubules attach at one end to of ­functional enzymes. A dominant allele usually encodes a
the kinetochore of a chromatid and at the opposite end to ­functional enzyme, and a recessive allele usually encodes a
one pole of the cell. During metaphase, the replicated chro- nonfunctional enzyme.
mosomes align along the spindle equator. During anaphase,
the centromeres joining sister chromatids divide and microtu-
bules pull sister chromatids to opposite poles of the cell. Dur- C ONCEPT R EVIEW Q UESTIONS
ing telophase, the mitotic spindle disassembles, the nuclear
envelope re-forms, and chromosomes unfold. 1. These are represented differently in males and females of the
same species.
Cytokinesis, the division of the cytoplasm, begins in late ana-
phase and is completed in telophase. a. Autosomes
3.3 Meiosis: The Basis of Sexual Reproduction b. Nucleosomes
Meiosis is a special form of nuclear division during gamete c. Sex chromosomes
formation. It consists of a single replication of the chromo- d. Histones
somes and two nuclear divisions that result in four daughter 2. Which of the following would be more nearly identical?
cells, each with half the original number of chromosomes. a. Homologous chromosomes
In the life cycle of most animals, germ-line cells undergo b. Nonhomologous chromosomes
gametogenesis to form haploid gametes (sperm in males and c. Sister chromatids before meiotic prophase I
eggs in females). Fusion of a sperm and an egg nucleus at
d. Sister chromatids after meiotic prophase I
fertilization produces a new diploid cell (zygote).
e. Chromosomes at metaphase II
3.4 DNA: The Genetic Material
3. Chromatids move toward opposite poles of the cell during
Deoxyribonucleic acid (DNA) is the hereditary material of
the cell. Ribonucleic acid (RNA) participates in protein a. prophase I of meiosis.
synthesis. b. metaphase of mitosis.
Nucleotides are nucleic acid building blocks. Nucleotides c. anaphase of mitosis.
consist of a nitrogenous (purine or pyrimidine) base, a phos- d. anaphase I of meiosis.
phate, and a pentose sugar. e. anaphase II of meiosis.
DNA replication is semiconservative. During replication, the f. Both c and d are correct.
DNA strands separate, and each strand is a template for a
g. Both c and e are correct.
new strand.
4. A student carried out a cross between two fruit flies. One fly
Protein synthesis is a result of two processes. Transcription
is heterozygous for the vestigial-wing trait and one is homo-
occurs in the nucleus and involves the production of a mes-
zygous for the vestigial-wing trait. The offspring expected
senger RNA (mRNA) molecule from a DNA molecule. Trans-
from this cross would
lation involves the movement of mRNA to the cytoplasm,
where transfer RNA and ribosomes link amino acids in a a. all be vestigial winged.
proper sequence to produce a polypeptide. b. all be wild winged.
Changes in DNA and chromosomes include point mutations, c. include flies with vestigial wings and wild wings in a ratio
which alter the bases in DNA, and changes in chromosome of 3:1.
number and structure. These changes are usually deleterious d. include flies with vestigial wings and wild wings in a ratio
for the organism. of 1:1.
3.5 Inheritance Patterns in Animals 5. A student carried out a cross between two fruit flies. One
The principle of segregation states that pairs of genes are fly was homozygous for vestigial wings and also homozy-
distributed between gametes during gamete formation when gous for sepia eyes. The second fly was heterozygous for
homologous chromosomes are distributed to different gam- vestigial wings and ­homozygous for wild eyes. The offspring
etes during meiosis. expected from this cross would
The principle of independent assortment states that, during gam- a. all be vestigial winged, but one-half of the flies would have
ete formation, pairs of genes segregate independently of one sepia eyes and one-half would have wild eyes.
another. This is a result of meiotic processes in which members b. all have wild eyes, but one-half of the flies would have ves-
of one homologous pair of chromosomes are not influenced by tigial wings and one-half would have wild wings.
the movements of any other pair of chromosomes. c. show the following phenotypes in equal numbers: wild
Populations may have many alternative expressions of a gene wings, wild eyes; wild wings, sepia eyes; vestigial wings,
at any locus. Human traits, like the ABO blood group, are wild eyes; and vestigial wings, sepia eyes.
traits determined by multiple alleles. d. show the following phenotypes in a 9:3:3:1 ratio: wild
Incomplete dominance is an interaction between two wings, wild eyes; wild wings, sepia eyes; vestigial wings,
alleles in which the alleles contribute more or less equally wild eyes; and vestigial wings, sepia eyes.