Chapter 12: The Cell Cycle

• Cell division: reproduction of cells. 0. Overview: The Key Roles of Cell Division
• Cell cycle: the life of a cell from the 1. When a unicellular organism, such as an amoeba, divides and forms duplicate offspring, the division of one cell
time it is first formed from a dividing reproduces an entire organism.
parent cell until its own division into 2. Cell division also enables sexually reproducing organisms to develop from a single cell—the fertilized egg, or zygote.
two cells. 1. Cell Division Results in Genetically Identical Daughter Cells
• Genome: A cell’s endowment of 1. A typical human cell has about 2 m of DNA. The replication and distribution of so much DNA is manageable because
DNA. DNA molecules are packaged into chromosomes.
2. Every eukaryotic species has a characteristic number of chromosomes in each cell nucleus. The nuclei of human
somatic cells each contain 46 chromosomes. Human gametes have half as many chromosomes as somatic cells.
3. Eukaryotic chromosomes are made of chromatin, a complex of DNA and associated protein molecules.
4. Each duplicated chromosome has two sister chromatids, which are initially attached all along their lengths by adhesive
protein complexes called cohesions; this attachment is called sister chromatid cohesion. The duplicated chromosome
has a narrow “waist” at the centromere, a specialized region where the two chromatids are most closely attached.
5. Mitosis, the division of the nucleus, is usually followed immediately by cytokinesis, the division of the cytoplasm.
Gametes are produced by meiosis.
2. The Mitotic Phase alternates with interphase in the cell cycle
1. In 1882, a German anatomist named Walther Flemming developed dyes that allowed him observe, for the first time, the
behavior of chromosomes during mitosis and cytokinesis.
2. Phases of the Cell Cycle:
1. The mitotic (M) phase, which includes both mitosis and cytokinesis, is usually the shortest part of the cell cycle.
2. Interphase often accounts for about 90% of the cycle. Interphase can be divided into subphases: the G1 phase,
the S phase, and the G2 phase. A cell grows (G1), continues to grow as it copies its chromosomes (S), grows
more as it completes preparations from cell division (G2), and divides (M).
3. Mitosis is conventionally broken down into five stages: prophase, prometaphase, metaphase, anaphase, and
telophase.
4. Many of the events of mitosis depend on the mitotic spindle, which consists of fibers made of microtubules and
associated proteins.
1. In animals, the assembly of spindle microtubules starts at the centrosome, a subcellular region containing
material that functions throughout the cell cycle to organize the cell’s microtubules.
2. During interphase in animal cells, the single centrosome replicates, forming two centrosomes, which
remain together near the nucleus.
3. By the end of prometaphase, the two centrosomes, one at each pole of the spindle, are at opposite ends of
the cell. An aster, a radial array of short microtubules, extends from each centrosome.
4. Each of the two sister chromatids of a replicated chromosome has a kinetochore, a structure of proteins
associated with specific sections of chromosomal DNA at the centromere. During prometaphase, some of
the spindle microtubules attached to the kinetochores. When one of a chromosome’s kinetochores is
“captured” by microtubules, the chromosome begins to move toward the pole from which those
microtubules extend. However, this movement is checked as soon as microtubules from the opposite pole
attach to the other kinetochore. The chromosome finally settles midway between the two ends of the cell,
on an imaginary plane called the metaphase plate.
5. By metaphase, the microtubules of the asters have also grown are in contact with the plasma membrane.
6. Anaphase commences suddenly when the cohesins holding together the sister chromatids of each
chromosome are cleaved by enzymes. A clever experiment carried out in Gary Borisy’s lab at the
University of Wisconsin in 1987 suggested that motor proteins on the kinetochores “walk” chromosomes
along the microtubules, which depolymerize at their kinetochore ends after the motor proteins have passed.
However, other researchers, working with different cell types or cells from other species, have shown that
chromosomes are “reeled in” by motor proteins at the spindle poles and that the microtubules depolymerize
after they pass by these motor proteins.
7. The nonkinetochore microtubules are responsible for elongating the whole cell during anaphase.
8. At the end of anaphase, duplicate groups of chromosomes have arrived at opposite ends of the elongated
parent cell. Nuclei re-form during telophase. Cytokinesis generally begins during anaphase or telophase,
and the spindle eventually disassembles.
5. In animal cells, cytokinesis occurs by a process known as cleavage. The first sign of cleavage is the appearance
of a cleavage furrow, a shallow groove in the cell surface near the old metaphase plate. On the cytoplasmic side
of the furrow is a contractile ring of actin microfilaments associated with molecules of the protein myosin.
6. Cytokinesis in plant cells, which have cell walls, is markedly different. During telophase, vesicles derived from
the Golgi apparatus move along microtubules to the middle of the cell, where they coalesce, producing a cell
plate.
7. The asexual reproduction of single-celled eukaryotes includes mitosis and occurs by a type of cell division called
binary fission, meaning “division by half.” In E. coli, the process of cell division is initiated when the DNA of
bacterial chromosome begins to replicate at a specific place on the chromosome called the origin of replication,
producing two origins, which move to opposite sides of the cell.
3. The Evolution of Mitosis
1. In dinoflagellates, the chromosomes attach to the nuclear envelope, which remains intact during cell division.
Microtubules pass through the nucleus inside cytoplasmic tunnels, reinforcing the spatial orientation of the
nucleus, which then divides in a process reminiscent of bacterial binary fission.
2. In diatoms and yeasts, the nuclear envelope remains intact during cell division, and microtubules form a spindle
within the nucleus.
3. The eukaryotic cell cycle is regulated by a molecular control system.
1. The timing and rate of cell division in different parts of a plant or animal are crucial to normal growth, development,
and maintenance.
2. In the early 1970s, a variety of experiments suggests that the cell cycle is driven by specific signaling molecules present
in the cytoplasm.
3. The sequential events of the cell cycle are directed by a distinct cell cycle control system.
4. A checkpoint in the cell cycle is a control point where stop and go-ahead signals can regulate the cycle. Animal cells
generally have built-in stop signals that halt the cell cycle at checkpoints until overridden by go-ahead signals. Three

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 Chapter 12: The Cell Cycle

major checkpoints are found in the G1, G2, and M phases. If a cell receives a go-ahead signal at the G1 checkpoint, it will
usually complete the G1, S, G2, and M phases and divide. If it does not receive a go-ahead signal at the point, it will exit
the cycle, switching into a nondividing state called the G0 phase.
5. Proteins kinases are enzymes that activate or inactivate other proteins by phosphorylating them. Particular protein
kinases give the go-ahead signals at the G1 and G2 checkpoints. Many of the kinases that drive the cell cycle are actually
present at a constant concentration in the growing cell, but much of the time they are in an inactive form. To be active,
such a kinase must be attached to a cyclin. Because of this requirement, these kinases are called cyclin-dependent
kinases, or Cdks.
1. MPF (maturation-promoting factor) was the cyclin-Cdk complex that was discovered first. MPF causes
phosphorylation of various proteins of the nuclear lamina, promoting fragmentation of the nuclear envelope.
2. Animal cells appeared to have at least three Cdk proteins and several different cyclins that operate at the G1
checkpoint.
3. For the M checkpoint, the appropriate regulatory protein becomes activated only when all the kinetochores of all
the chromosomes are attached to the spindle.
• Growth factor: a protein released by
4. Cells fail to divide if an essential nutrient is lacking in the culture medium. Most types of mammalian cells divide
certain cells that simulates other cells
in culture only if the growth medium includes specific growth factors.
to divide.
5. Recent studies have revealed that the binding of a cell-surface protein to its counterpart on an adjoining cell sends
• Density-dependent inhibition: a a growth-inhibiting signal to both cells.
phenomenon in which crowded cells
stop dividing.
6. Most animal cells also exhibit anchorage dependence. To divide, they must be attached to a substratum.
6. Loss of Cell Cycle Controls in Cancer Cells
1. Cancer cells do not heed the normal signals that regulate the cell cycle. They divide excessively and invade other
tissues. In addition to their lack of density-dependent inhibition and anchorage dependence, cancer cells do not
stop dividing when growth factors are depleted. They may make a required growth factor themselves, or they may
have an abnormality in the signaling pathway that conveys the growth factor’s signal to the cell cycle control
system even in the absence of that factor. Another possibility is an abnormal cell cycle control system.
2. If and when they stop dividing, cancer cells do so at random points in the cycle. Cancer cells can go on dividing
indefinitely in culture if they are given a continual supply of nutrients; in essence, they are “immortal”. Nearly all
normal mammalian cells growing in culture divide only about 20-50 times before they stop dividing, age, and die.
3. The abnormal behavior of cancer cells can be catastrophic when it occurs in the body. The problem begins when
a single cell in a tissue undergoes transformation, the process that converts a normal cell to a cancer cell.
4. If the abnormal cells remain at the original site, the lump is called a benign tumor. In contrast, a malignant
tumor becomes invasive enough to impair the functions of one or more organs.
5. The cells of malignant tumors are abnormal in many ways besides their excessive proliferation. They may have
unusual numbers of chromosomes. Their metabolism may be disabled, and they may cease to function in any
constructive way. Abnormal changes on the cell surface cause cancer cells to lose attachments to neighboring
cells and the extracellular matrix, which allows them to spread into nearby tissues. The spread of cancer cells to
locations distant from their original site is called metastasis.
6. To treat known or suspected metastatic tumors, chemotherapy is used, in which drugs that are toxic to actively
dividing cells are administered through the circulatory system.

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 Chapter 13: Meiosis and Sexual Life Cycles

• Heredity: The transmission of traits
 Offspring acquire genes from parents by inheriting chromosomes
from one generation to the next. 1. Parents endow their offspring with coded information in the form of hereditary units called genes.
• Along with inherited similarity, there 2. In animals and plants, reproductive cells called gametes are the vehicles that transmit genes from one generation to the
is also variation. next.
• Genetics: the scientific study of 3. Except for small amounts of DNA in mitochondria and chloroplast, the DNA of a eukaryotic cell is packaged into
heredity and hereditary variation. chromosomes within the nucleus.
• Locus: A gene’s specific location 4. In asexual reproduction, a single individual is the sole parent and passes copies of all its genes to its offspring. An
along the length of a chromosome.
individual that reproduces asexually gives rise to a clone.
5. In sexual reproduction, two parents give rise to offspring that have unique combinations of genes inherited from the
two parents.
• Life Cycle: the generation-to-
 Fertilization and meiosis alternate in sexual life cycles
generation sequence of stages in the 1. In humans, each somatic cell—any cell other than those involved in gamete formation—has 46 chromosomes.
reproductive history of an organism. 2. Karyotype: images of the chromosomes are in arranged in pairs, starting with the longest chromosomes. The two
chromosomes composing a pair have the same length, centromere position, and staining pattern: These are called
homologous chromosomes.
3. The two distinct chromosomes referred to as X and Y are an important exception to the general pattern of homologous
• Fertilization: The union of gametes, chromosomes in human somatic cells. Because they determine an individual’s sex, the X and Y chromosomes are called
culminating in fusion of their nuclei. sex chromosomes. The other chromosomes are called autosomes.
• Zygote: the resulting fertilized egg. It 4. Any cell with two chromosome sets is called a diploid cell and has a diploid number of chromosomes, abbreviated 2n.
is diploid. 5. Gametes (sperm and eggs) contain a single chromosome set. Such cells are called haploid cells, and each has a haploid
• Meiosis: a type of cell division that number of chromosomes (n).
produces haploid cells. 6. Although the alteration of meiosis and fertilization is common to all organisms that reproduce sexually, the timing of
these two events in the life cycle varies, depending on the species.
1. In humans and most other animals, gametes are the only haploid cells.
2. Plants and some species of algae exhibit a second type of life cycle called alteration of generations. Both diploid
and haploid stages are multicellular. The multicellular diploid stage is called the sporophyte. Meiosis in the
sporophyte produces haploid cells called spores, which divide, forming a multicellular haploid stage called the
gametophyte.
3. A third type of life cycle occurs in most fungi and some protists, including some algae. After gametes fuse and
form a diploid zygote, meiosis occurs without a multicellular diploid offspring developing.
 Meiosis reduces the number of chromosome sets from diploid to haploid
1. Meiosis, like mitosis, is preceded by the replication of chromosomes. However, this single replication is followed by not
one but two consecutive cell divisions, called meiosis I and meiosis II.
2. Three events unique to meiosis occur during meiosis I.
• Chiasma: the physical manifestation
1. Synapsis and crossing over: During prophase I, replicated homologs pair up and become physically connected
of crossing over due to the fact that along their lengths by a zipper-like protein structure, the synaptonemal complex (synapsis). Genetic
sister chromatid cohesion still holds rearrangement between nonsister chromatids (crossing over) occurs. Following diassembly of the synaptonemal
the two original sister chromatid complex in late prophase, the two homologs pull apart slightly but remain connected by at least chiasma.
together. 2. Homologs on the metaphase plate: At metaphase I of meiosis, chromosomes are positioned on the metaphase
plate as pairs of homologs.
• Independent assortment: Because
each homologous pair of 3. Separation of homologs: At anaphase I of meiosis, the replicated chromosomes of each homologous pair move
chromosomes is positioned toward opposite poles, but the sister chromatids of each replicated chromosome remain attached. At anaphase I,
independently of the other pairs at cohesions are cleaved along the arms, allowing homologs to separate. At anaphase II, cohesions are cleaved at the
metaphase I, the first meiotic division centromeres, allowing chromatids to separate. A protein named shugoshin protects cohesins from cleavage at the
results in each pair sorting its centromere during meiosis I.
maternal and paternal homologs into 4. Meiosis I is called the reductional division because it halves the number of chromosomes sets per cell. During
daughter cells independently of every meiosis II (equational division) the sister chromatids separate, producing haploid daughter cells.
other pair.  Genetic variation produced in sexual life cycles contributes to evolution
1. One aspect of sexual reproduction that generates genetic variation is the random orientation of homologous pairs of
chromosomes at metaphase of meiosis I. The number of possible combinations when chromosomes sort independently
during meiosis is 2n.
2. Crossing over produces recombinant chromosomes, individual chromosomes that carry genes derived from two
different parents. Crossing over begins very early in prophase I, as homologous chromosomes pair loosely along their
lenghts. A chiasma forms as the result of a crossover occurring while sister chromatid cohesion is present along the
arms. Chiasmata hold homologs together as the spindle forms for the first meiotic division.
3. At metaphase II, chromosomes that contain one or more recombinant chromatids can be oriented in two alternative,
nonequivalent ways with respect to the other chromosomes.

Chapter 14: Mendle and the gene idea

0. Overview: Drawing from the Deck of Genes

1. The explanation of heredity most widely in favor during the 1800s was the “blending” hypothesis, the idea that genetic
material contributed by the two parents mixes in a manner analogous to the way blue and yellow paints blend to make
green.
2. An alternative to the blending model is a “particulate” hypothesis of inheritance: the gene idea.
1. Mendel Used the Scientific Approach to Identify Two Laws of Inheritance.
1. Mendel grew up on his parents’ small farm, received agricultural training in school along with his basic education, and
overcame financial hardship and illness to excel in high school and, later, at the Olmutz Philosophical Institute.
2. In 1843, the then 21-year-old Mendel entered a monastery.
3. After failing the exam necessary to become a teacher, Mendel left the monastery and studied physics and chemistry at
the University of Vienna for two years. Two professors affected him greatly:
• Character: a heritable feature that 1. Christian Doppler encouraged his students to learn science through experimentation and trained Mendel to use
varies among individuals, such as mathematics to help explain natural phenomena.
flower color. 2. Franz Unger aroused Mendel’s interest in the causes of variation in plants.
• Trait: Each variant for a character. 4. Afterwards, Mendel returned to the monastery and was assigned to teach at a local school. Around 1857, Mendel began
breeding garden peas in the abbey garden to study inheritance.

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 Chapter 14: Mendel and the Gene Idea

• Punnett square: a handy 5. Mendel made sure that he started his experiments with varieties that, over many generations of self-pollination, hard
diagrammatic device for predicting produced on the same variety as the parent plant. Such plants are said to be true-breeding.
the allele composition of offspring 6. Hybridization: The mating, or crossing, of two true-breeding barieties.
from a cross between individuals of 1. P generation: the true-breeding parents.
known genetic makeup. 2. F1 generation: The first generation of hybrid offspring.
• Homozygous: identical alleles 3. Allowing the F1 generation to self-pollinate produces an F2 generation.
7. Mendel’s Model
• Heterozygous: two different alleles. 1. Alternative versions of genes account for variations in inherited characters. These alternative versions of a gene
• Phenotype: observable traits. Can are called alleles.
refer to a specific character or the 2. For each character, an organism inherits two alleles, one from each parent.
organism in its entirety. 3. If the two alleles at a locus differ, then one, the dominant allele, determines the organism’s appearance; the other,
• Genotype: genetic makeup. Can the recessive allele, has no noticeable effect on the organism’s appearance.
refer to a specific gene or the 4. Law of Segregation: The two alleles for a heritable character segregate (separate) during gamete formation and
organism’s entire genome. end up in different gametes.
• Monohybrids: heterozygous for one 8. Breeding an organism of unknown genotype with a recessive homozygote is called a testcross because it can reveal the
character. genotype of that organism.
9. The results of Mendel’s dihybrid experiments are the basis for the law of independent assortment: each pair of alleles
• Dihybrids: individuals heterozygous
segregates independently of each other pair of alleles during gamete formation. Strictly speaking, this law applies only
for two characters. to genes located on different chromosomes.
2. The Laws of Probability Govern Mendelian Inheritance.
1. Mendel’s laws of segregation and independent assortment reflect the same rules of probability that apply to tossing
coins, rolling dice, and drawing cards from a deck.
2. The multiplication rule states that to determine the probability of two events both happening, we multiply the
probability of one event by the probability of the other event.
3. Addition rule: the probability that any one of two or more mutually exclusive events will occur is calculated by adding
their individual probabilities.
3. Inheritance Patterns are Often More Complex than Predicted by Simple Mendelian Genetics.
1. Complete dominance: the phenotypes of the heterozygote and the dominant homozygote are indistinguishable.
2. Incomplete dominance: Neither allele is completely dominant, and the F1 hybrids have a phenotype somewhere
between those of the two parental varieties.
3. Codominance: the two alleles both affect the phenotype in separate, distinguishable ways.
4. For any character, the observed dominate/recessive relationship of alleles depends on the level at which we examine
phenotype. Ex: Tay-Sachs disease, an inherited lack of a certain enzyme that metabolizes certain lipids. As these lipids
accumulate in brain cells, the victim begins to suffer seizures, blindness, and degeneration of motor and mental
performance and dies within a few years.
1. Only children who are homozygous recessive have the disease. Thus, at the organismal level, the Tay-Sachs allele
qualifies as recessive.
2. The activity level of the lipid-metabolizing enzyme in heterozygotes is intermediate between that in individuals
homozygous for the normal allele and that in individuals with Tay-Sachs disease. At the biochemical level, Tay-
Sachs allele displays incomplete dominance.
3. Heterozygous individuals produce equal numbers of normal and dysfunctional enzyme molecules. At the
molecular level, the moral allele and the Tay-Sachs allele are codominant.
5. The dominant allele for a particular character may be less common in a population that the recessive allele.
• Epistasis: a gene at one locus alters 6. Most genes exist in more than two allelic forms.
the phenotypic expression of a gene 7. Pleiotropy: When genes have multiple phenotypic effects. Most genes display pleiotropy.
at a second locus. 8. For many characters, an either-or classification is impossible because the characters vary in population along a
continuum. (Quantitative characters). This usually indicates polygenic inheritance, where two or more genes affect a
• Norm of reaction: the phenotypic
single phenotypic character.
range for a genotype.
9. Environment contributes to the quantitative nature of some characters. These characters are multifactorial.
4. Many Human Traits Follow Mendelian Patterns of Inheritance
1. Pedigree: contains information describing the traits of parents and children across the generations arranged into a
family tree.
2. Although phenotypically normal with regard to the disorder, heterozygous may transmit the recessive allele to their
offspring and thus are called carriers.
3. In general, genetic disorders are not evenly distributed among all groups of people. This uneven distribution results
from the different genetic histories of the world’s peoples during less technological times, when populations were more
geographically (and hence genetically) isolated. When a disease-causing recessive allele is rare, it is relatively unlikely
that two carriers of the same harmful allele will meet and mate. However, if the man and woman are close relatives, the
probability of passing on recessive traits increases greatly.
4. The most common lethal genetic disease in the United States is cystic fibrosis, which strikes one out of every 2,500
people of European descent, though it is much rarer in other groups. The disorder is caused by a defect or absence of a
chloride ion channel.
5. The most common inherited disorder of among people of African descent is sickle-cell disease, which affects one out of
400 African-Americans. Heterozygotes, said to have sickle-cell trait, are usually healthy, but they may suffer some
sickle-cell symptoms during prolonged periods of reduced blood oxygen content.
6. Although many harmful alleles are recessive, a number of human discovers are due to dominate alleles. One example is
• Amniocentesis: a physician inserts a
achondroplasia, a form of dwarfism that occurs in one of every 25,000 people.
needle into the uterus and extracts 7. A lethal dominate allele can escape elimination if it causes death only after an individual who carries the allele has
about 10 mL of amniotic fluid. reached a relatively advanced age. For example, Huntington’s disease, a degenerative disease of the nervous system, is
• Chorionic villus sampling: a caused by a lethal dominate allele that has no obvious phenotypic effect until the individual is about 35-45 years old.
physician inserts a narrow tube 8. The hereditary diseases we have discussed so far are sometimes described as simple Mendelian disorders because they
through the cervix into the uterus and result from abnormality of one or both alleles at a single genetic locus. Many more people are susceptible to diseases
suctions out a time sample of tissue that have a multifactorial basis—a genetic component plus a significant environmental influence. In many cases, the
from the placenta. hereditary component is polygenic.
• Ultrasound: sound waves are used to 9. A preventive approach to simple Mendelian disorders is possible when the risk of a particular genetic disorder can be
produce an image of the fetus. assessed before a child is conceived or during the early stages of the pregnancy.
• Fetoscopy: a needle-thin tube 10. For an increasing number of heritable disorders, tests are available that can distinguish individuals of the normal
containing a viewing scope and fiber phenotype who are dominate homozygotes from those who are heterozygotes.
optics is inserted into the uterus. 11. Some genetic disorders can be detected at birth by simple tests that are now routinely performed in most hospitals in the
United States.

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 Chapter 15: The Chromosomal Basis of Inheritance.

0. Overview: Locating Genes Along Chromosomes.

1. Gregor Mendel’s “hereditary factors” were purely an abstract concept when he proposed their existence in 1860. At that
time, no cellular structures were know that could house these imaginary units.
2. Today, we can show that genes—Mendel’s “factors”--are located along chromosomes.
1. Mendelian inheritance has its physical basis in the behavior of chromosomes.
1. Using improved techniques of microscopy, cytologists worked out the process of mitosis in 1875 and meiosis in the
1890s.
2. Around 1902, Walter S. Sutton, Theodor Boveri, and others independently noted the parallels between the behavior of
chromosomes and the behavior of Mendel’s proposed hereditary factors. The chromosome theory of inheritance
began to take form. According to this theory Mendelian genes have specific loci (positions) along chromosomes, and it
is the chromosomes that undergo segregation and independent assortment.
• Wild type: the phenotype for a 3. Thomas Hunt Morgan:
character most commonly observed 1. He first mated fruit flies until he got a single male fruit fly with white eyes instead of the normal red eyes.
in natural populations.
2. He then mated the white-eyed fly with a normal red-eyed fly. All the offspring had red eyes.
• Mutant phenotype: Traits that are
3. When these offspring mated, the new offspring had the ratio of 3-red-eyed: 1-white-eyed, Morgan noticed that all
alternatives to the wild type.
the white-eyed flies produced were male.
4. He concluded that a fly’s eye color was linked to its sex.
2. Sex-linked genes exhibit unique patterns of inheritance.
1. In humans and other mammals, there are two varieties of sex chromosomes, designated X and Y. A person who inherits
two X chromosomes usually develops as a female. An XY person develops into a male.
2. Researchers have sequenced the human Y chromosome and have identified 78 genes, which code for about 25 proteins.
About half of these genes are expressed only in the testis, and some are required for normal testicular function.
• Sex-linked gene: a gene located on 3. If a sex-linked trait is due to a recessive allele, a female will express the phenotype only if she is a homozygote.
either sex chromosome. Because males have only one locus, the terms homozygous and heterozygous lack meaning for describing their sex-
linked genes; the term hemizygous is used in such cases.
4. A number of of human sex-linked disorders are much more serious that color blindness. An example is Duchenne
muscular dystrophy. The disease is characterized by a progressive weakening of the muscles and loss of coordination.
Researchers have traced the disorder to the absence of a key muscle protein called dystrophin and have mapped the gene
for this protein to specific locus on the X chromosome.
5. Hemophilia: a sex-linked recessive disorder defined by the absence of one or more of the proteins required for blood
clotting.
6. X-inactivation in Female Mammals
1. One X chromosome in each cell in females becomes almost completely inactivated during embryonic
development. The inactive X in each cell of a female condenses into a compact object called a Barr body, which
lies along the inside of the nuclear envelope.
2. British geneticist Mary Lyon demonstrated that the selection of which X chromosome will form the Barr body
occurs randomly and independently in each embryonic cell present at the time of X inactivation. As a
consequence, females consist of a mosaic of two types of cells: those with the active X derived from the father
and those with the active X derived from the mother.
3. Inactivation of an X chromosome involves modification to the DNA, including attachment of methyl groups to
one of the nitrogenous bases of DAN nucleotides. Researchers also have discovered an X chromosome gene
called XIST that is active only on the Barr-body chromosome. Multiple copies of the RNA product of this gene
apparently attach to the X chromosome on which they are made, eventually almost covering it.
3. Linked genes tend to be inherited together because they are located near each other on the
same chromosome.
• Linked genes: Genes located on the 1. When 50% of all offspring are recombinants, genetics say that there is a 50% frequency of recombination. A 50%
same chromosome that tend to be frequency of recombination is observed for any two genes that are located on different chromosomes and are thus
inherited together in genetic crosses. unlinked.
• Genetic recombination: the 2. Crossing over accounts for the recombination of linked genes. In crossing over, which occurs while the replicated
production of offspring with homologous chromosomes are paired during prophase of meiosis I, a set of proteins orchestrates an exchange of
combinations of traits that differ from corresponding segments of one maternal and one paternal chromatid.
those found in either parent. 3. Genetic map: an ordered list of the genetic loci along a particular chromosome.
• Parental types: have phenotypes that 4. Alfred H. Sturtevant predicted that the farther apart two genes are, the higher the probability that a crossover will
matches one of the parental occur between them and therefore the higher the recombination frequency.
phenotypes. 5. Linkage map: A genetic map based on recombination frequencies. Sturtevant expressed the distances between genes in
• Recombinant types map units (centimorgans), defining one map unit as equivalent to a 1% recombination frequency.
(recombinants): have phenotypes 6. Other methods enable geneticists to construct cytogenetic maps of chromosomes, which locate genes with respect to
that differ from the parental chromosomal features.
phenotypes. 4. Alterations of chromosome number or structure cause some genetic disorders
1. The phenotype of an organism can be affected by small-scale changes involving individual genes. Random mutations
• Nondisjunction: the members of a are the source of all new alleles, which can lead to new phenotypic traits.
pair of homologous chromosomes do 2. Large-scale chromosomal changes can also affect an organism’s phenotype. They often lead to spontaneous abortion
not move apart properly during (miscarriage) of a fetus.
meiosis I or sister chromatids fail to 3. Aneuploidy: a condition in which a zygote has an abnormal number of chromosomes. Monosomic: the zygote only has
separate during meiosis II. one copy of a chromosome. Trisomic: the zygote has three copies of a chromosome.
4. Polyploidy: More than two complete chromosome sets in all somatic cells. It is fairly common in the plant kingdom.
Many of the plant species we eat are polyploid. In the animal kingdom, polyploid species are much less common,
although they are known to occur among fishes and amphibians. In general, polyploids are more nearly normal in
appearance than aneuploids.
5. Errors in meiosis or damaging agents such as radiation can cause breakage of a chromosome, which can lead to four
types of of changes in chromosome structure.
1. Deletion: a chromosomal fragment is lost.
2. Duplication: a “deleted” fragment becomes attached as an extra segment to a sister chromatid.
3. Inversion: the fragment reattaches to the original chromosome but in reverse orientation.

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