Lesson Proper for Week 7

THE CELL CYCLE

One “turn” or cycle of the cell cycle consists of two general phases: interphase, followed by mitosis and
cytokinesis. Interphase is the period of the cell cycle during which the cell is not dividing. The majority of cells
are in interphase most of the time. Mitosis is the division of genetic material, during which the cell nucleus
breaks down and two new, fully functional, nuclei are formed. Cytokinesis divides the cytoplasm into two
distinctive cells.

Interphase

Figure 1. Cell Cycle. The two major phases of the cell cycle include mitosis (cell division), and interphase, when
the cell grows and performs all of its normal functions. Interphase is further subdivided into G1, S, and G2
phases.

A cell grows and carries out all normal metabolic functions and processes in a period called G1 (Figure 1). G1
phase (gap 1 phase) is the first gap, or growth phase in the cell cycle. For cells that will divide again, G1 is
followed by replication of the DNA, during the S phase. The S phase (synthesis phase) is period during which a
cell replicates its DNA.

After the synthesis phase, the cell proceeds through the G2 phase. The G2 phase is a second gap phase, during
which the cell continues to grow and makes the necessary preparations for mitosis. Between G1, S, and G2
phases, cells will vary the most in their duration of the G1 phase. It is here that a cell might spend a couple of
hours, or many days. The S phase typically lasts between 8-10 hours and the G2 phase approximately 5 hours.
In contrast to these phases, the G0 phase is a resting phase of the cell cycle. Cells that have temporarily
stopped dividing and are resting (a common condition) and cells that have permanently ceased dividing (like
nerve cells) are said to be in G0.

THE STRUCTURE OF CHROMOSOMES

Billions of cells in the human body divide every day. During the synthesis phase (S, for DNA synthesis) of
interphase, the amount of DNA within the cell precisely doubles. Therefore, after DNA replication but before
cell division, each cell actually contains two copies of each chromosome. Each copy of the chromosome is
referred to as a sister chromatid and is physically bound to the other copy. The centromere is the structure
that attaches one sister chromatid to another. Because a human cell has 46 chromosomes, during this phase,
there are 92 chromatids (46 × 2) in the cell. Make sure not to confuse the concept of a pair of chromatids (one
chromosome and its exact copy attached during mitosis) and a homologous pair of chromosomes (two paired
chromosomes which were inherited separately, one from each parent) (Figure 2).

Figure 2. A Homologous Pair of Chromosomes with their Attached Sister Chromatids. The red and blue colors
correspond to a homologous pair of chromosomes. Each member of the pair was separately inherited from
one parent. Each chromosome in the homologous pair is also bound to an identical sister chromatid, which is
produced by DNA replication, and results in the familiar “X” shape.

MITOSIS AND CYTOKINESIS

The mitotic phase of the cell typically takes between 1 and 2 hours. During this phase, a cell undergoes two
major processes. First, it completes mitosis, during which the contents of the nucleus are equitably pulled apart
and distributed between its two halves. Cytokinesis then occurs, dividing the cytoplasm and cell body into two
new cells. Mitosis is divided into four major stages that take place after interphase (Figure 3) and in the
following order: prophase, metaphase, anaphase, and telophase. The process is then followed by cytokinesis.

1. Prophase is the first phase of mitosis, during which the loosely packed chromatin coils and condenses into
visible chromosomes. During prophase, each chromosome becomes visible with its identical partner attached,
forming the familiar X-shape of sister chromatids. The nucleolus disappears early during this phase, and the
nuclear envelope also disintegrates.
Figure 3. Cell Division: Mitosis Followed by Cytokinesis. The stages of cell division oversee the separation of
identical genetic material into two new nuclei, followed by the division of the cytoplasm.

A major occurrence during prophase concerns a very important structure that contains the origin site for
microtubule growth. Recall the cellular structures called centrioles that serve as origin points from which
microtubules extend. These tiny structures also play a very important role during mitosis. A centrosome is a
pair of centrioles together. The cell contains two centrosomes side-by-side, which begin to move apart during
prophase. As the centrosomes migrate to two different sides of the cell, microtubules begin to extend from
each like long fingers from two hands extending toward each other. The mitotic spindle is the structure
composed of the centrosomes and their emerging microtubules.

Near the end of prophase there is an invasion of the nuclear area by microtubules from the mitotic spindle. The
nuclear membrane has disintegrated, and the microtubules attach themselves to the centromeres that adjoin
pairs of sister chromatids. The kinetochore is a protein structure on the centromere that is the point of
attachment between the mitotic spindle and the sister chromatids. This stage is referred to as late prophase or
“prometaphase” to indicate the transition between prophase and metaphase.

2. Metaphase is the second stage of mitosis. During this stage, the sister chromatids, with their attached
microtubules, line up along a linear plane in the middle of the cell. A metaphase plate forms between the
centrosomes that are now located at either end of the cell. The metaphase plate is the name for the plane
through the center of the spindle on which the sister chromatids are positioned. The microtubules are now
poised to pull apart the sister chromatids and bring one from each pair to each side of the cell.

3. Anaphase is the third stage of mitosis. Anaphase takes place over a few minutes, when the pairs of sister
chromatids are separated from one another, forming individual chromosomes once again. These
chromosomes are pulled to opposite ends of the cell by their kinetochores, as the microtubules shorten. Each
end of the cell receives one partner from each pair of sister chromatids, ensuring that the two new daughter
cells will contain identical genetic material.

4. Telophase is the final stage of mitosis. Telophase is characterized by the formation of two new daughter
nuclei at either end of the dividing cell. These newly formed nuclei surround the genetic material, which uncoils
such that the chromosomes return to loosely packed chromatin. Nucleoli also reappear within the new nuclei,
and the mitotic spindle breaks apart, each new cell receiving its own complement of DNA, organelles,
membranes, and centrioles. At this point, the cell is already beginning to split in half as cytokinesis begins.

The cleavage furrow is a contractile band made up of microfilaments that forms around the midline of the cell
during cytokinesis. (Recall that microfilaments consist of actin.) This contractile band squeezes the two cells
apart until they finally separate. Two new cells are now formed. One of these cells (the “stem cell”) enters its
own cell cycle; able to grow and divide again at some future time. The other cell transforms into the functional
cell of the tissue, typically replacing an “old” cell there.

Imagine a cell that completed mitosis but never underwent cytokinesis. In some cases, a cell may divide its
genetic material and grow in size, but fail to undergo cytokinesis. This results in larger cells with more than one
nucleus. Usually this is an unwanted aberration and can be a sign of cancerous cells.

MEIOSIS

Meiosis is a type of cell division that reduces the number of chromosomes in the parent cell by half and
produces four gamete cells. This process is required to produce egg and sperm cells for sexual reproduction.
During reproduction, when the sperm and egg unite to form a single cell, the number of chromosomes is
restored in the offspring.

Meiosis begins with a parent cell that is diploid, meaning it has two copies of each chromosome. The parent cell
undergoes one round of DNA replication followed by two separate cycles of nuclear division. The process
results in four daughter cells that are haploid, which means they contain half the number of chromosomes of
the diploid parent cell.

Meiosis has both similarities to and differences from mitosis, which is a cell division process in which a parent
cell produces two identical daughter cells. Meiosis begins following one round of DNA replication in cells in the
male or female sex organs. The process is split into meiosis I and meiosis II, and both meiotic divisions have
multiple phases. Meiosis I is a type of cell division unique to germ cells, while meiosis II is similar to mitosis.
Meiosis I. In meiosis I, homologous chromosomes are separated into two cells such that there is one
chromosome (consisting of two chromatids) per chromosome pair in each daughter cell.

Prophase I. Prior to prophase, chromosomes replicate to form sister chromatids. There are initially four
chromatids (c) and two chromosomes (n) for each of the 23 chromosome pairs (4c, 2n). The nuclear envelope
disintegrates and the chromosomes begin to condense. Spindle fibres appear which will be important for
successful division of the chromosomes.

To further increase the genetic diversity, homologous chromosomes exchange parts of themselves such that
one chromosome contains both maternal and paternal DNA. This process is known as crossing over, and the
points at which this occurs on a chromosome are referred to as chiasmata.

Prometaphase I

Now the spindle fibres attach to the chromosomes at a points along the chromosomes called centromeres.
While this is happening the chromosomes continue to condense.

Metaphase I

Next, maternal and paternal versions of the same chromosome align along the equator of the cell. These are
the homologous chromosomes. A process called independent assortment occurs – this is when maternal and
paternal chromosomes line up randomly align themselves on either side of the equator. This is turn determines
to which gamete chromosomes are allocated to, which leads to genetic diversity among offspring.

Anaphase I

Here each of the homologous chromosomes get pulled towards opposite poles of the cell as the spindle fibres
retract to divide the DNA between the two cells which will be formed.
Telophase I and Cytokinesis I

During telophase I, the nuclear envelope reforms and spindle fibres disappear. In Cytokinesis I, the cytoplasm
and cell divides resulting in two cells that are technically haploid – there is one chromosome and two
chromatids f or each chromoso me (2c, n).

Telophase II

This is the same as Telophase I.

Cytokinesis II

Again, the cytoplasm and cell divides producing 2 nonidentical haploid daughter cells, but as this is happening
in both cells produced by meiosis I, the net product is 4 nonidentical haploid daughter cells, each comprising
one chromosome consisting of one chromatid (1c, 1n). These are gametes.
Images Adapted from work by Ali Zifan [CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0)], via
Wikimedia Commons

Mitosis vs. Meiosis

Eukaryotes are capable of two types of cell division: mitosis and meiosis Mitosis allows for cells to produce
identical copies of themselves, which means the genetic material is duplicated from parent to daughter cells.
Mitosis produces two daughter cells from one parent cell.

Single-celled eukaryotes, such as amoeba and yeast, use mitosis to reproduce asexually and increase their
population. Multicellular eukaryotes, like humans, use mitosis to grow or heal injured tissues.

Meiosis, on the other hand, is a specialized form of cell division that occurs in organisms that reproduce
sexually. As mentioned above, it produces reproductive cells, such as sperm cells, egg cells, and spores in
plants and fungi.

In humans, special cells called germ cells undergo meiosis and ultimately give rise to sperm or eggs. Germ cells
contain a complete set of 46 chromosomes (23 maternal chromosomes and 23 paternal chromosomes). By the
end of meiosis, the resulting reproductive cells, or gametes, each have 23 genetically unique chromosomes.

GAMETOGENESIS

Gametogenesis is the process of forming gametes (by definition haploid, n) from diploid cells of the germ line.
Spermatogenesis is the process of forming sperm cells by meiosis (in animals, by mitosis in plants) in
specialized organs known as gonads (in males these are termed testes). After division the cells undergo
differentiation to become sperm cells. Oogenesis is the process of forming an ovum (egg) by meiosis (in
animals, by mitosis in the gametophyte in plants) in specialized gonads known as ovaries. Whereas in
spermatogenesis all 4 meiotic products develop into gametes, oogenesis places most of the cytoplasm into the
large egg. The other cells, the polar bodies, do not develop. This all the cytoplasm and organelles go into the
egg. Human males produce 200,000,000 sperm per day, while the female produces one egg (usually) each
menstrual cycle.

Spermatogenesis

Sperm production begins at puberty at continues throughout life, with several hundred million sperm being
produced each day. Once sperm form they move into the epididymis, where they mature and are stored
Gametogenesis. Images from Purves et al., Life: The Science of Biology, 4th Edition, by Sinauer Associates
(www.sinauer.com) and WH Freeman (www.whfreeman.com), used with permission.

Oogenesis

The ovary contains many follicles composed of a developing egg surrounded by an outer layer of follicle cells.
Each egg begins oogenesis as a primary oocyte. At birth each female carries a lifetime supply of developing
oocytes, each of which is in Prophase I. A developing egg (secondary oocyte) is released each month from
puberty until menopause, a total of 400-500 eggs.

Oogenesis. The above image is from http://www.grad.ttuhsc.edu/courses/histo/notes/female.html

Lesson Proper for Week 8

MENDELIAN PATTERNS OF INHERITANCE
Gregor Mendel was an Austrian monk who formulated some of the fundamental principles
regarding the inheritance of traits. Between 1856 and 1863 he performed thousands of
experiments in which he cross-bred pea plants with dichotomous characteristics such as color
(e.g., yellow or green). Several conclusions were drawn from his studies:

 The hereditary determinants are finite factors called genes.

 Each parent has a gene pair in each cell for each trait studied. If one crosses two pure
lines, one which is homozygous for the dominant trait and one that is homozygous for
the recessive trait, the progeny will be heterozygous and have one dominant allele
and one recessive allele.
 One member of a given gene pair segregates into a gamete, and each gamete carries
only one allele for each gene.
 During fertilization, gametes unite randomly, independent other genes.

Alternatives to Dominance and Recessiveness

Mendel’s experiments with pea plants suggested that: (1) two “units” or alleles exist for every
gene; (2) alleles maintain their integrity in each generation (no blending); and (3) in the presence
of the dominant allele, the recessive allele is hidden and makes no contribution to the phenotype.
Therefore, recessive alleles can be “carried” and not expressed by individuals. Such
heterozygous individuals are sometimes referred to as “carriers.” Further genetic studies in
other plants and animals have shown that much more complexity exists, but that the fundamental
principles of Mendelian genetics still hold true.
Mendel’s results, that traits are inherited as dominant and recessive pairs, contradicted the view
at that time that offspring exhibited a blend of their parents’ traits. However, the heterozygote
phenotype occasionally does appear to be intermediate between the two parents. For example, in
the snapdragon, Antirrhinum majus, a cross between a homozygous parent with white flowers
(CWCW) and a homozygous parent with red flowers (CRCR) will produce offspring with pink
flowers (CRCW). This pattern of inheritance is described as incomplete dominance, denoting
the expression of two contrasting alleles such that the individual displays an intermediate
phenotype. The allele for red flowers is incompletely dominant over the allele for white flowers.
However, the results of a heterozygote self-cross can still be predicted, just as with Mendelian
dominant and recessive crosses. In this case, the genotypic ratio would be 1 CRCR:2 CRCW:1
CWCW, and the phenotypic ratio would be 1:2:1 for red:pink:white.
Example of incomplete dominance: These pink flowers of a heterozygote snapdragon result from
incomplete dominance.
A variation on incomplete dominance is codominance, in which both alleles for the same
characteristic are simultaneously expressed in the heterozygote. An example of codominance is
the MN blood groups of humans. The M and N alleles are expressed in the form of an M or N
antigen present on the surface of red blood cells. Homozygotes (LML M and LNL N) express
either the M or the N allele, and heterozygotes (LML N) express both alleles equally. In a self-
cross between heterozygotes expressing a codominant trait, the three possible offspring
genotypes are phenotypically distinct. However, the 1:2:1 genotypic ratio characteristic of a
Mendelian monohybrid cross still applies.
Mendel implied that only two alleles, one dominant and one recessive, could exist for a given
gene. We now know that this is an oversimplification. Although individual humans (and all
diploid organisms) can only have two alleles for a given gene, multiple alleles may exist at the
population level such that many combinations of two alleles are observed. Note that when many
alleles exist for the same gene, the convention is to denote the most common phenotype or
genotype among wild animals as the wild type (often abbreviated “+”); this is considered the
standard or norm. All other phenotypes or genotypes are considered variants of this standard,
meaning that they deviate from the wild type. The variant may be recessive or dominant to the
wild-type allele. An example of multiple alleles is coat color in rabbits. Here, four alleles exist
for the c gene. The wild-type version, C+C+ , is expressed as brown fur. The chinchilla
phenotype, cchc ch , is expressed as black-tipped white fur. The Himalayan phenotype, chc h ,
has black fur on the extremities and white fur elsewhere. Finally, the albino, or “colorless”
phenotype, cc, is expressed as white fur. In cases of multiple alleles, dominance hierarchies can
exist. In this case, the wild-type allele is dominant over all the others, chinchilla is incompletely
dominant over Himalayan and albino, and Himalayan is dominant over albino. This hierarchy, or
allelic series, was revealed by observing the phenotypes of each possible heterozygote offspring.
 Example of multiple alleles for rabbit coat color: Four different alleles exist for the rabbit coat
color (C) gene.
The complete dominance of a wild-type phenotype over all other mutants often occurs as an
effect of “dosage” of a specific gene product, such that the wild-type allele supplies the correct
amount of gene product whereas the mutant alleles cannot. For the allelic series in rabbits, the
wild-type allele may supply a given dosage of fur pigment, whereas the mutants supply a lesser
dosage or none at all. Alternatively, one mutant allele can be dominant over all other phenotypes,
including the wild type. This may occur when the mutant allele somehow interferes with the
genetic message so that even a heterozygote with one wild-type allele copy expresses the mutant
phenotype. One way in which the mutant allele can interfere is by enhancing the function of the
wild-type gene product or changing its distribution in the body. One example of this is the
Antennapedia mutation in Drosophila. In this case, the mutant allele expands the distribution of
the gene product; as a result, the Antennapedia heterozygote develops legs on its head where its
antennae should be.
 Example of a mutant allele interfering with the function of a wild-type gene: As seen in
comparing the wild-type Drosophila (left) and the Antennapedia mutant (right), the
Antennapedia mutant has legs on its head in place of antennae.

THE GENETICS OF HUMAN BLOOD

More is known about the genetics of the blood than about any other human tissue. One reason for
this is that blood samples can be easily secured and subjected to biochemical analysis without
harm or major discomfort to the person being tested. Perhaps a more cogent reason is that many
chemical properties of human blood display relatively simple patterns of inheritance.
Blood types
Certain chemical substances within the red blood cells (such as the ABO and MN substances
noted above) may serve as antigens. When cells that contain specific antigens are introduced
into the body of an experimental animal such as a rabbit, the animal responds by producing
antibodies in its own blood.
In addition to the ABO and MN systems, geneticists have identified about 14 blood-type gene
systems associated with other chromosomal locations. The best known of these is the Rh system.
The Rh antigens are of particular importance in human medicine. Curiously, however, their
existence was discovered in monkeys. When blood from the rhesus monkey (hence the
designation Rh) is injected into rabbits, the rabbits produce so-called Rh antibodies that will
agglutinate not only the red blood cells of the monkey but the cells of a large proportion of
human beings as well. Some people (Rh-negative individuals), however, lack the Rh antigen;
the proportion of such persons varies from one human population to another. Akin to data
concerning the ABO system, the evidence for Rh genes indicates that only a single chromosome
locus (called r) is involved and is located on chromosome 1. At least 35 Rh alleles are known for
the r location; basically the Rh-negative condition is recessive.
A medical problem may arise when a woman who is Rh-negative carries a fetus that is Rh-
positive. The first such child may have no difficulty, but later similar pregnancies may produce
severely anemic newborn infants. Exposure to the red blood cells of the first Rh-positive fetus
appears to immunize the Rh negative mother, that is, she develops antibodies that may
produce permanent (sometimes fatal) brain damage in any subsequent Rh-positive fetus. Damage
arises from the scarcity of oxygen reaching the fetal brain because of the severe destruction of
red blood cells. Measures are available for avoiding the severe effects of Rh incompatibility by
transfusions to the fetus within the uterus; however, genetic counselling before conception is
helpful so that the mother can receive Rh immunoglobulin immediately after her first and any
subsequent pregnancies involving an Rh-positive fetus. This immunoglobulin effectively
destroys the fetal red blood cells before the mother’s immune system is stimulated. The mother
thus avoids becoming actively immunized against the Rh antigen and will not produce antibodies
that could attack the red blood cells of a future Rh-positive fetus.

Blood Groups
For blood groups, the alleles are A, B and O. The A allele is dominant over the O allele. So, a
person with one A allele and one O allele (AO) has blood group A. Blood group A is said to
have a dominant inheritance pattern over blood group O.
If a mother has the alleles A and O (AO), her blood group will be A because the A allele is
dominant. If the father has two O alleles (OO), he has the blood group O. For each child that
couple has, each parent will pass on one or the other of those two alleles. This is shown in figure
1. This means that each one of their children has a 50 per cent chance of having blood group A
(AO) and a 50 per cent chance of having blood group O (OO), depending on which alleles they
inherit.
Table 1 - Father’s blood group (OO, group O)

The combination of alleles that you have is called your genotype (e.g. AO). The observable
trait that you have – in this case blood group A – is your phenotype.

RECESSIVE GENETIC CONDITIONS

If a person has one changed (q) and one unchanged (Q) copy of a gene, and they do not have the
condition associated with that gene change, they are said to be a carrier of that condition. The
condition is said to have a recessive inheritance pattern – it is not expressed if there is a
functioning copy of the gene present.
If two people are carriers (Qq) of the same recessive genetic condition, there is a 25 per cent (or
one in four) chance that they may both pass the changed copy of the gene on to their child (qq,
see figure 2.) As the child then does not have an unchanged, fully functioning copy of the gene,
they will develop the condition.
There is also a 25 per cent chance that each child of the same parents may be unaffected, and a
50 per cent chance that they may be carriers of the condition.
Figure 2 - Father (carrier)
Recessive genetic conditions are more likely to arise if two parents are related, although they are
still quite rare. Examples of autosomal recessive genetic conditions include cystic
fibrosis and phenylketonuria (PKU).

Co-dominant genes
Not all genes are either dominant or recessive. Sometimes, each allele in the gene pair carries
equal weight and will show up as a combined physical characteristic. For example, with blood
groups, the A allele is as ‘strong’ as the B allele. The A and B alleles are said to be co-
dominant. Someone with one copy of A and one copy of B has the blood group AB.
The inheritance pattern of children from parents with blood groups B (BO) and A (AO) is given
in table 3.
Each one of their children has a 25 per cent chance of having blood group AB (AB), A (AO), B
(BO) or O (OO), depending on which alleles they inherit.
Table 3 - Father’s blood group - (group B)

For some conditions, family members with the same mutation may not have the same symptoms.
For other conditions, individuals with different mutations can have similar characteristics. This is
because gene expression is influenced by genes, as well as by the environment.
Diseases caused by mutations in a single gene are usually inherited in a simple pattern,
depending on the location of the gene and whether one or two normal copies of the gene are
needed. This is often referred to as Mendelian inheritance because Gregor Mendel first
observed these patterns in garden pea plants. Most single gene disorders are rare; but, in total,
they affect millions of people in the United States.
Several basic modes of inheritance exist for single-gene disorders: autosomal dominant,
autosomal recessive, X-linked dominant, and X-linked recessive. However, not all genetic
conditions will follow these patterns, and other rare forms of inheritance such as mitochondrial
inheritance exist.
Dominant mutations are expressed when only one copy of that mutation is present. Therefore,
anyone who inherits one dominant disease mutation such as the mutation for Huntington’s
disease will have that disease. Dominantly inherited genetic diseases tend to occur in every
generation of a family. Each affected person usually has one affected parent. However, dominant
mutations can also happen in an individual for the first time, with no family history of the
condition (spontaneous mutation).
Recessive mutations require two mutated copies for disease to develop. Recessive genetic
diseases are typically not seen in every generation of an affected family. The parents of an
affected person are generally carriers: unaffected people who have a copy of a mutated gene. If
both parents are carriers of the same mutated gene and both pass it to the child, the child will be
affected.

 Inheritance patterns differ for genes on sex chromosomes (chromosomes X and Y)

compared to genes located on autosomes, non-sex chromosomes (chromosomes
numbers 1-22). This is due to the fact that, in general, females carry two X
chromosomes (XX), while males carry one X and one Y chromosome (XY).
Therefore, females carry two copies of each X-linked gene, but males carry only one
copy each of X-linked and Y-linked genes. Females carry no copies of Y-linked
genes.

 Diseases caused by mutated genes located on the X chromosome can be inherited in

either a dominant or recessive manner. Since males only have one X chromosome,
any mutated gene on the X chromosome, dominant or recessive, will result in disease.
Because females have two copies of X-linked genes, they will not be affected by
 inheriting of a single recessive mutation on an X-linked gene. For X-linked recessive
diseases to occur in females, both copies of the gene must be mutated. Families with
an X-linked recessive disorder often have affected males, but rarely affected
females, in each generation.

 For X-linked dominant diseases, however, a mutation in one copy of an X-linked

gene will result in disease for both males and females. Families with an X-linked
dominant disorder often have both affected males and affected females in each
generation. 

 A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked

traits to their sons; fathers only pass X chromosomes to their daughters and Y
chromosomes to their sons. In contrast, mothers pass X-linked genes to both sons and
daughters.

Lesson Proper for Week 8

MENDELIAN PATTERNS OF INHERITANCE

Gregor Mendel was an Austrian monk who formulated some of the fundamental principles regarding the
inheritance of traits. Between 1856 and 1863 he performed thousands of experiments in which he cross-bred
pea plants with dichotomous characteristics such as color (e.g., yellow or green). Several conclusions were
drawn from his studies:

 The hereditary determinants are finite factors called genes.

 Each parent has a gene pair in each cell for each trait studied. If one crosses two pure lines, one
which is homozygous for the dominant trait and one that is homozygous for the recessive trait, the
progeny will be heterozygous and have one dominant allele and one recessive allele.
 One member of a given gene pair segregates into a gamete, and each gamete carries only one
allele for each gene.
 During fertilization, gametes unite randomly, independent other genes.

Alternatives to Dominance and Recessiveness

Mendel’s experiments with pea plants suggested that: (1) two “units” or alleles exist for every gene; (2) alleles
maintain their integrity in each generation (no blending); and (3) in the presence of the dominant allele, the
recessive allele is hidden and makes no contribution to the phenotype. Therefore, recessive alleles can be
“carried” and not expressed by individuals. Such heterozygous individuals are sometimes referred to as
“carriers.” Further genetic studies in other plants and animals have shown that much more complexity exists,
but that the fundamental principles of Mendelian genetics still hold true.

Mendel’s results, that traits are inherited as dominant and recessive pairs, contradicted the view at that time
that offspring exhibited a blend of their parents’ traits. However, the heterozygote phenotype occasionally does
appear to be intermediate between the two parents. For example, in the snapdragon, Antirrhinum majus, a
cross between a homozygous parent with white flowers (CWCW) and a homozygous parent with red flowers
(CRCR) will produce offspring with pink flowers (CRCW). This pattern of inheritance is described as incomplete
dominance, denoting the expression of two contrasting alleles such that the individual displays an
intermediate phenotype. The allele for red flowers is incompletely dominant over the allele for white flowers.
However, the results of a heterozygote self-cross can still be predicted, just as with Mendelian dominant and
recessive crosses. In this case, the genotypic ratio would be 1 CRCR:2 CRCW:1 CWCW, and the phenotypic ratio
would be 1:2:1 for red:pink:white.

Example of incomplete dominance: These pink flowers of a heterozygote snapdragon result from incomplete
dominance.

A variation on incomplete dominance is codominance, in which both alleles for the same characteristic are
simultaneously expressed in the heterozygote. An example of codominance is the MN blood groups of humans.
The M and N alleles are expressed in the form of an M or N antigen present on the surface of red blood cells.
Homozygotes (LML M and LNL N) express either the M or the N allele, and heterozygotes (LML N) express both
alleles equally. In a self-cross between heterozygotes expressing a codominant trait, the three possible
offspring genotypes are phenotypically distinct. However, the 1:2:1 genotypic ratio characteristic of a Mendelian
monohybrid cross still applies.

Mendel implied that only two alleles, one dominant and one recessive, could exist for a given gene. We now
know that this is an oversimplification. Although individual humans (and all diploid organisms) can only have
two alleles for a given gene, multiple alleles may exist at the population level such that many combinations of
two alleles are observed. Note that when many alleles exist for the same gene, the convention is to denote the
most common phenotype or genotype among wild animals as the wild type (often abbreviated “+”); this is
considered the standard or norm. All other phenotypes or genotypes are considered variants of this standard,
meaning that they deviate from the wild type. The variant may be recessive or dominant to the wild-type allele.
An example of multiple alleles is coat color in rabbits. Here, four alleles exist for the c gene. The wild-type
version, C+C+ , is expressed as brown fur. The chinchilla phenotype, cchc ch , is expressed as black-tipped white
fur. The Himalayan phenotype, chc h , has black fur on the extremities and white fur elsewhere. Finally, the
albino, or “colorless” phenotype, cc, is expressed as white fur. In cases of multiple alleles, dominance
hierarchies can exist. In this case, the wild-type allele is dominant over all the others, chinchilla is incompletely
dominant over Himalayan and albino, and Himalayan is dominant over albino. This hierarchy, or allelic series,
was revealed by observing the phenotypes of each possible heterozygote offspring.
 Example of multiple alleles for rabbit coat color: Four different alleles exist for the rabbit coat color (C) gene.

The complete dominance of a wild-type phenotype over all other mutants often occurs as an effect of
“dosage” of a specific gene product, such that the wild-type allele supplies the correct amount of gene product
whereas the mutant alleles cannot. For the allelic series in rabbits, the wild-type allele may supply a given
dosage of fur pigment, whereas the mutants supply a lesser dosage or none at all. Alternatively, one mutant
allele can be dominant over all other phenotypes, including the wild type. This may occur when the mutant
allele somehow interferes with the genetic message so that even a heterozygote with one wild-type allele copy
expresses the mutant phenotype. One way in which the mutant allele can interfere is by enhancing the function
of the wild-type gene product or changing its distribution in the body. One example of this is the Antennapedia
mutation in Drosophila. In this case, the mutant allele expands the distribution of the gene product; as a result,
the Antennapedia heterozygote develops legs on its head where its antennae should be.

Example of a mutant allele interfering with the function of a wild-type gene: As seen in comparing the
wild-type Drosophila (left) and the Antennapedia mutant (right), the Antennapedia mutant has legs on its head
in place of antennae.
 THE GENETICS OF HUMAN BLOOD

More is known about the genetics of the blood than about any other human tissue. One reason for this is that
blood samples can be easily secured and subjected to biochemical analysis without harm or major discomfort
to the person being tested. Perhaps a more cogent reason is that many chemical properties of human blood
display relatively simple patterns of inheritance.

Blood types

Certain chemical substances within the red blood cells (such as the ABO and MN substances noted above) may
serve as antigens. When cells that contain specific antigens are introduced into the body of an experimental
animal such as a rabbit, the animal responds by producing antibodies in its own blood.

In addition to the ABO and MN systems, geneticists have identified about 14 blood-type gene systems
associated with other chromosomal locations. The best known of these is the Rh system. The Rh antigens are
of particular importance in human medicine. Curiously, however, their existence was discovered in monkeys.
When blood from the rhesus monkey (hence the designation Rh) is injected into rabbits, the rabbits produce
so-called Rh antibodies that will agglutinate not only the red blood cells of the monkey but the cells of a large
proportion of human beings as well. Some people (Rh-negative individuals), however, lack the Rh antigen; the
proportion of such persons varies from one human population to another. Akin to data concerning the ABO
system, the evidence for Rh genes indicates that only a single chromosome locus (called r) is involved and is
located on chromosome 1. At least 35 Rh alleles are known for the r location; basically the Rh-negative
condition is recessive.

A medical problem may arise when a woman who is Rh-negative carries a fetus that is Rh-positive. The first
such child may have no difficulty, but later similar pregnancies may produce severely anemic newborn infants.
Exposure to the red blood cells of the first Rh-positive fetus appears to immunize the Rh negative mother,
that is, she develops antibodies that may produce permanent (sometimes fatal) brain damage in any
subsequent Rh-positive fetus. Damage arises from the scarcity of oxygen reaching the fetal brain because of
the severe destruction of red blood cells. Measures are available for avoiding the severe effects of Rh
incompatibility by transfusions to the fetus within the uterus; however, genetic counselling before conception
is helpful so that the mother can receive Rh immunoglobulin immediately after her first and any subsequent
pregnancies involving an Rh-positive fetus. This immunoglobulin effectively destroys the fetal red blood cells
before the mother’s immune system is stimulated. The mother thus avoids becoming actively immunized
against the Rh antigen and will not produce antibodies that could attack the red blood cells of a future Rh-
positive fetus.

Blood Groups

For blood groups, the alleles are A, B and O. The A allele is dominant over the O allele. So, a person with one A
allele and one O allele (AO) has blood group A. Blood group A is said to have a dominant inheritance pattern
over blood group O.

If a mother has the alleles A and O (AO), her blood group will be A because the A allele is dominant. If the father
has two O alleles (OO), he has the blood group O. For each child that couple has, each parent will pass on one
or the other of those two alleles. This is shown in figure 1. This means that each one of their children has a 50
per cent chance of having blood group A (AO) and a 50 per cent chance of having blood group O (OO),
depending on which alleles they inherit.

Table 1 - Father’s blood group (OO, group O)

The combination of alleles that you have is called your genotype (e.g. AO). The observable trait that you
have – in this case blood group A – is your phenotype.

RECESSIVE GENETIC CONDITIONS

If a person has one changed (q) and one unchanged (Q) copy of a gene, and they do not have the condition
associated with that gene change, they are said to be a carrier of that condition. The condition is said to have
a recessive inheritance pattern – it is not expressed if there is a functioning copy of the gene present.

If two people are carriers (Qq) of the same recessive genetic condition, there is a 25 per cent (or one in four)
chance that they may both pass the changed copy of the gene on to their child (qq, see figure 2.) As the child
then does not have an unchanged, fully functioning copy of the gene, they will develop the condition.

There is also a 25 per cent chance that each child of the same parents may be unaffected, and a 50 per cent
chance that they may be carriers of the condition.

Figure 2 - Father (carrier)

Recessive genetic conditions are more likely to arise if two parents are related, although they are still quite rare.
Examples of autosomal recessive genetic conditions include cystic fibrosis and phenylketonuria (PKU).

Co-dominant genes

Not all genes are either dominant or recessive. Sometimes, each allele in the gene pair carries equal weight and
will show up as a combined physical characteristic. For example, with blood groups, the A allele is as ‘strong’ as
the B allele. The A and B alleles are said to be co-dominant. Someone with one copy of A and one copy of B has
the blood group AB.

The inheritance pattern of children from parents with blood groups B (BO) and A (AO) is given in table 3.

Each one of their children has a 25 per cent chance of having blood group AB (AB), A (AO), B (BO) or O (OO),
depending on which alleles they inherit.

Table 3 - Father’s blood group - (group B)

For some conditions, family members with the same mutation may not have the same symptoms. For other
conditions, individuals with different mutations can have similar characteristics. This is because gene
expression is influenced by genes, as well as by the environment.

Diseases caused by mutations in a single gene are usually inherited in a simple pattern, depending on the
location of the gene and whether one or two normal copies of the gene are needed. This is often referred to
as Mendelian inheritance because Gregor Mendel first observed these patterns in garden pea plants. Most
single gene disorders are rare; but, in total, they affect millions of people in the United States.

Several basic modes of inheritance exist for single-gene disorders: autosomal dominant, autosomal recessive,
X-linked dominant, and X-linked recessive. However, not all genetic conditions will follow these patterns, and
other rare forms of inheritance such as mitochondrial inheritance exist.

Dominant mutations are expressed when only one copy of that mutation is present. Therefore, anyone who
inherits one dominant disease mutation such as the mutation for Huntington’s disease will have that disease.
Dominantly inherited genetic diseases tend to occur in every generation of a family. Each affected person
usually has one affected parent. However, dominant mutations can also happen in an individual for the first
time, with no family history of the condition (spontaneous mutation).

Recessive mutations require two mutated copies for disease to develop. Recessive genetic diseases are
typically not seen in every generation of an affected family. The parents of an affected person are generally
carriers: unaffected people who have a copy of a mutated gene. If both parents are carriers of the same
mutated gene and both pass it to the child, the child will be affected.

 Inheritance patterns differ for genes on sex chromosomes (chromosomes X and Y) compared to
genes located on autosomes, non-sex chromosomes (chromosomes numbers 1-22). This is due to
the fact that, in general, females carry two X chromosomes (XX), while males carry one X and one
Y chromosome (XY). Therefore, females carry two copies of each X-linked gene, but males carry
only one copy each of X-linked and Y-linked genes. Females carry no copies of Y-linked genes.

 Diseases caused by mutated genes located on the X chromosome can be inherited in either a
dominant or recessive manner. Since males only have one X chromosome, any mutated gene on
the X chromosome, dominant or recessive, will result in disease. Because females have two copies
of X-linked genes, they will not be affected by inheriting of a single recessive mutation on an X-
linked gene. For X-linked recessive diseases to occur in females, both copies of the gene must be
mutated. Families with an X-linked recessive disorder often have affected males, but rarely
affected females, in each generation.

 For X-linked dominant diseases, however, a mutation in one copy of an X-linked gene will result in
disease for both males and females. Families with an X-linked dominant disorder often have both
affected males and affected females in each generation. 

 A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their
sons; fathers only pass X chromosomes to their daughters and Y chromosomes to their sons. In
contrast, mothers pass X-linked genes to both sons and daughters.

Lesson Proper for Week 9

BIOTECHNOLOGY
Transgenic organisms are genetically engineered to carry transgenes—genes from a different
species—as part of their genome. The transgene may either be a different version of one of the
organism’s genes or a gene that does not exist in their genome. Transgenes are usually generated
by recombinant DNA and DNA cloning techniques. Transgenic bacteria, plants, and animals
allow scientists to address biological queries and design practical solutions.

CREATING A TRANSGENIC ORGANISM

Scientists begin the process of transgenesis—introducing a transgene into an organism’s
genome—by selecting an appropriate technique. There are several biological, chemical, and
physical methods of transgenesis. A common biological method involves the virus-mediated
introduction of foreign DNA into a host cell genome, called transduction. A popular chemical
method uses calcium phosphate (Ca3(PO4)2). The method is based on the formation of a
Ca3(PO4)2/DNA precipitate to facilitate DNA binding to and entering cells. Physical methods
such as microinjection—a technique that uses a thin, glass needle to manually insert genetic
material into cells—artificially introduce DNA by force.
Once inside the cell, a transgene can either integrate randomly or at a specific site in the genome
with the help of DNA repair enzymes (i.e., recombination). These transgenic cells then multiply
and replicate the transgene as part of their genome, stably expressing the researcher’s gene of
interest. A transgene may not integrate into the genome, and hence induce only transient
expression of the researcher’s gene of interest. Usually, a selectable marker (e.g., antibiotic
resistance gene) or a reporter gene (e.g., GFP) are included along with the gene of interest, so
that cells with successful transgene integration can be identified.

Transgenes Introduced into Animals and Plants

In animals, the transgene is typically inserted into an early-stage, fertilized egg by
microinjection. The hope is that the transgene will integrate into the germ cells—reproductive
precursor cells that become gametes (i.e., egg or sperm)—so that it will express in all of the
developing organism’s cells. Furthermore, germline integration is heritable, meaning the
transgene can be passed down through generations by breeding. The transgenic animals are
backcrossed—the offspring are mated with the parent—to create lines of animals that are
homozygous for the transgene.
Plant transgenesis routinely uses a biological method, such as bacterial vector delivery, to
introduce foreign DNA into cells. Rhizobium radiobacter (formerly known as Agrobacterium
tumefaciens) is a soil-dwelling, pathogenic bacterium that can infect plants and integrate its
plasmid DNA into the plant’s genome. Scientists have modified R. radiobacter so that the
plasmid DNA can carry a transgene. Plant tissue samples are cultured with R. radiobacter to
allow for infection and the integration of the transgene. These tissues are further cultured on
selective media that induce shoot and root growth until the nascent plant can be transferred to
soil. These transgenic plants are backcrossed to create lines of high yield, transgenic plants.

Practical Uses of Transgenic Organisms

Transgenic organisms have many applications in agriculture, science, industry, and medicine.
For example, transgenic plants have been produced that are insect-resistant to increase yield and
reduce the use of pesticides (e.g., Bt corn); bacteria have been engineered for use in biomedical
research and to produce biofuels; and transgenic animals have been used to manufacture
medicines—such as human proteins—and to create models of human disease. Scientists leverage
the power of transgenic plants, bacteria, and animals to research gene expression, create desired
gene products, or promote valuable traits.

GENETICALLY MODIFIED ORGANISM

Genetically modified organism (GMO), organism whose genome has been engineered in the
laboratory in order to favour the expression of desired physiological traits or the generation of
desired biological products. In conventional livestock production, crop farming, and even pet
breeding, it has long been the practice to breed select individuals of a species in order to produce
offspring that have desirable traits. In genetic modification, however, recombinant genetic
technologies are employed to produce organisms whose genomes have been precisely altered at
the molecular level, usually by the inclusion of genes from unrelated species of organisms that
code for traits that would not be obtained easily through conventional selective breeding.

Genetically Modified Barley. Genetically modified (GM) barley grown by researchers on a site
belonging to Giessen University (Justus-Liebig-Universität) in Germany. The GM barley was
investigated for its effects on soil quality. Ralph Orlowski/Getty Images
Genetically modified organisms (GMOs) are produced using scientific methods that include
recombinant DNA technology and reproductive cloning. In reproductive cloning, a nucleus is
extracted from a cell of the individual to be cloned and is inserted into the enucleated cytoplasm
of a host egg (an enucleated egg is an egg cell that has had its own nucleus removed). The
process results in the generation of an offspring that is genetically identical to the donor
individual. The first animal produced by means of this cloning technique with a nucleus from an
adult donor cell (as opposed to a donor embryo) was a sheep named Dolly, born in 1996. Since
then a number of other animals, including pigs, horses, and dogs, have been generated by
reproductive cloning technology. Recombinant DNA technology, on the other hand, involves the
insertion of one or more individual genes from an organism of one species into the DNA
(deoxyribonucleic acid) of another. Whole-genome replacement, involving the transplantation of
one bacterial genome into the “cell body,” or cytoplasm, of another microorganism, has been
reported, although this technology is still limited to basic scientific applications.
Genetically Modified Organisms. Genetically modified organisms are produced using scientific
methods that include recombinant DNA technology. Encyclopædia Britannica, Inc.
GMOs produced through genetic technologies have become a part of everyday life, entering into
society through agriculture, medicine, research, and environmental management. However, while
GMOs have benefited human society in many ways, some disadvantages exist; therefore, the
production of GMOs remains a highly controversial topic in many parts of the world.

GMOs in Agriculture
Genetically modified (GM) foods were first approved for human consumption in the United
States in 1994, and by 2014–15 about 90 percent of the corn, cotton, and soybeans planted in the
United States were GM. By the end of 2014, GM crops covered nearly 1.8 million square
kilometers (695,000 square miles) of land in more than two dozen countries worldwide. The
majority of GM crops were grown in the Americas.
 Genetically Modified Corn (maize). Genetically modified corn (maize).©
S74/Shutterstock.com
Engineered crops can dramatically increase per area crop yields and, in some cases, reduce the
use of chemical insecticides. For example, the application of wide-spectrum insecticides declined
in many areas growing plants, such as potatoes, cotton, and corn, that were endowed with a gene
from the bacterium Bacillus thuringiensis, which produces a natural insecticide called Bt toxin.
Field studies conducted in India in which Bt cotton was compared with non-Bt cotton
demonstrated a 30–80 percent increase in yield from the GM crop. This increase was attributed
to marked improvement in the GM plants’ ability to overcome bollworm infestation, which was
otherwise common. Studies of Bt cotton production in Arizona, U.S., demonstrated only small
gains in yield—about 5 percent—with an estimated cost reduction of $25–$65 (USD) per acre
owing to decreased pesticide applications. In China, where farmers first gained access to Bt
cotton in 1997, the GM crop was initially successful. Farmers who had planted Bt cotton reduced
their pesticide use by 50–80 percent and increased their earnings by as much as 36 percent. By
2004, however, farmers who had been growing Bt cotton for several years found that the benefits
of the crop eroded as populations of secondary insect pests, such as mirids, increased. Farmers
once again were forced to spray broad-spectrum pesticides throughout the growing season, such
that the average revenue for Bt growers was 8 percent lower than that of farmers who grew
conventional cotton. Meanwhile, Bt resistance had also evolved in field populations of major
cotton pests, including both the cotton bollworm (Helicoverpa armigera) and the pink bollworm
(Pectinophora gossypiella).
Other GM plants were engineered for resistance to a specific chemical herbicide, rather than
resistance to a natural predator or pest. Herbicide-resistant crops (HRC) have been available
since the mid1980s; these crops enable effective chemical control of weeds, since only the HRC
plants can survive in fields treated with the corresponding herbicide. Many HRCs are resistant to
glyphosate (Roundup), enabling liberal application of the chemical, which is highly effective
against weeds. Such crops have been especially valuable for no-till farming, which helps prevent
soil erosion. However, because HRCs encourage increased application of chemicals to the soil,
rather than decreased application, they remain controversial with regard to their environmental
impact. In addition, in order to reduce the risk of selecting for herbicide-resistant weeds, farmers
must use multiple diverse weed-management strategies.
Another example of a GM crop is “golden” rice, which originally was intended for Asia and
was genetically modified to produce almost 20 times the beta-carotene of previous varieties.
Golden rice was created by modifying the rice genome to include a gene from the daffodil
Narcissus pseudonarcissus that produces an enzyme known as phyotene synthase and a gene
from the bacterium Erwinia uredovora that produces an enzyme called phyotene desaturase. The
introduction of these genes enabled beta-carotene, which is converted to vitamin A in the human
liver, to accumulate in the rice endosperm—the edible part of the rice plant—thereby increasing
the amount of beta-carotene available for vitamin A synthesis in the body. In 2004 the same
researchers who developed the original golden rice plant improved upon the model, generating
golden rice 2, which showed a 23-fold increase in carotenoid production.
Another form of modified rice was generated to help combat iron deficiency, which impacts
close to 30 percent of the world population. This GM crop was engineered by introducing into
the rice genome a ferritin gene from the common bean, Phaseolus vulgaris, that produces a
protein capable of binding iron, as well as a gene from the fungus Aspergillus fumigatus that
produces an enzyme capable of digesting compounds that increase iron bioavailability via
digestion of phytate (an inhibitor of iron absorption). The iron fortified GM rice was engineered
to overexpress an existing rice gene that produces a cysteine-rich metallothionein like (metal-
binding) protein that enhances iron absorption.
A variety of other crops modified to endure the weather extremes common in other parts of the
globe are also in production.

GMOs in Medicine and Research

GMOs have emerged as one of the mainstays of biomedical research since the 1980s. For
example, GM animal models of human genetic diseases enabled researchers to test novel
therapies and to explore the roles of candidate risk factors and modifiers of disease outcome. GM
microbes, plants, and animals also revolutionized the production of complex pharmaceuticals by
enabling the generation of safer and cheaper vaccines and
therapeutics. Pharmaceutical products range from recombinant hepatitis B vaccine produced
by GM baker’s yeast to injectable insulin (for diabetics) produced in GM Escherichia coli
bacteria and to factor VIII (for hemophiliacs) and tissue plasminogen activator (tPA, for heart
attack or stroke patients), both of which are produced in GM mammalian cells grown in
laboratory culture. Furthermore, GM plants that produce “edible vaccines” are under
development. An edible vaccine is an antigenic protein that is produced in the consumable parts
of a plant (e.g., fruit) and absorbed into the bloodstream when the parts are eaten. Once absorbed
into the body, the protein stimulates the immune system to produce antibodies against the
pathogen from which the antigen was derived. Such vaccines could offer a safe, inexpensive, and
painless way to provide vaccines, particularly in less-developed regions of the world, where the
limited availability of refrigeration and sterile needles has been problematic for some traditional
vaccines. Novel DNA vaccines may be useful in the struggle to prevent diseases that have
proved resistant to traditional vaccination approaches, including HIV/AIDS, tuberculosis, and
cancer.
Genetic modification of insects has become an important area of research, especially in the
struggle to prevent parasitic diseases. For example, GM mosquitoes have been developed that
express a small protein called SM1, which blocks entry of the malaria parasite, Plasmodium, into
the mosquito’s gut. This results in the disruption of the parasite’s life cycle and renders the
mosquito malaria-resistant. Introduction of these GM mosquitoes into the wild could help reduce
transmission of the malaria parasite. In another example, male Aedes aegypti mosquitoes
engineered with a method known as the sterile insect technique transmit a gene to their offspring
that causes the offspring to die before becoming sexually mature. In field trials in a Brazil
suburb, A. aegypti populations declined by 95 percent following the sustained release of sterile
GM males. Finally, genetic modification of humans via gene therapy is becoming a treatment
option for diseases ranging from rare metabolic disorders to cancer. Coupling stem cell
technology with recombinant DNA methods allows stem cells derived from a patient to be
modified in the laboratory to introduce a desired gene. For example, a normal beta-globin gene
may be introduced into the DNA of bone marrow-derived hematopoietic stem cells from a
patient with sickle cell anemia; introduction of these GM cells into the patient could cure the
disease without the need for a matched donor.

CLONING
Cloning, the process of generating a genetically identical copy of a cell or an organism. Cloning
happens often in nature—for example, when a cell replicates itself asexually without any genetic
alteration or recombination. Prokaryotic organisms (organisms lacking a cell nucleus) such as
bacteria create genetically identical duplicates of themselves using binary fission or budding. In
eukaryotic organisms (organisms possessing a cell nucleus) such as humans, all the cells that
undergo mitosis, such as skin cells and cells lining the gastrointestinal tract, are clones; the only
exceptions are gametes (eggs and sperm), which undergo meiosis and genetic recombination.

Dolly the Sheep. Dolly the sheep, the first clone of an adult mammal, at the Roslin Institute,
near Edinburgh.© John Chadwick—AP/REX/Shutterstock.com
Hwang Woo Suk and Gerald Schatten. South Korean cloning and stem cell researcher Hwang
Woo Suk (left) and Gerald Schatten of the University of Pittsburgh School of Medicine with
Snuppy, the first successfully cloned dog, August 3, 2005.AP

In biomedical research, cloning is broadly defined to mean the duplication of any kind of
biological material for scientific study, such as a piece of DNA or an individual cell. For
example, segments of DNA are replicated exponentially by a process known as polymerase chain
reaction, or PCR, a technique that is used widely in basic biological research. The type of
cloning that is the focus of much ethical controversy involves the generation of cloned embryos,
particularly those of humans, which are genetically identical to the organisms from which they
are derived, and the subsequent use of these embryos for research, therapeutic, or reproductive
purposes.

Reproductive Cloning
Reproductive cloning involves the implantation of a cloned embryo into a real or an artificial
uterus. The embryo develops into a fetus that is then carried to term. Reproductive cloning
experiments were performed for more than 40 years through the process of embryo splitting, in
which a single early-stage twocell embryo is manually divided into two individual cells and then
grows as two identical embryos. Reproductive cloning techniques underwent significant change
in the 1990s, following the birth of Dolly, who was generated through the process of SCNT. This
process entails the removal of the entire nucleus from a somatic (body) cell of an organism,
followed by insertion of the nucleus into an egg cell that has had its own nucleus removed
(enucleation). Once the somatic nucleus is inside the egg, the egg is stimulated with a mild
electrical current and begins dividing. Thus, a cloned embryo, essentially an embryo of an
identical twin of the original organism, is created. The SCNT process has undergone significant
refinement since the 1990s, and procedures have been developed to prevent damage to eggs
during nuclear extraction and somatic cell nuclear insertion. For example, the use of polarized
light to visualize an egg cell’s nucleus facilitates the extraction of the nucleus from the egg,
resulting in a healthy, viable egg and thereby increasing the success rate of SCNT.
Dolly the sheep and her cloning. Dolly the sheep was cloned using the process of somatic cell
nuclear transfer (SCNT). While SCNT is used for cloning animals, it can also be used to generate
embryonic stem cells. Prior to implantation of the fertilized egg into the uterus of the surrogate
mother, the inner cell mass of the egg can be removed, and the cells can be grown in culture to
form an embryonic stem cell line (generations of cells originating from the same group of parent
cells).Encyclopædia Britannica, Inc.
Reproductive cloning using SCNT is considered very harmful since the fetuses of embryos
cloned through SCNT rarely survive gestation and usually are born with birth defects. Wilmut’s
team of scientists needed 277 tries to create Dolly. Likewise, attempts to produce a macaque
monkey clone in 2007 involved 100 cloned embryos, implanted into 50 female macaque
monkeys, none of which gave rise to a viable pregnancy. In January 2008, scientists at
Stemagen, a stem cell research and development company in California, announced that they had
cloned five human embryos by means of SCNT and that the embryos had matured to the stage at
which they could have been implanted in a womb. However, the scientists destroyed the embryos
after five days, in the interest of performing molecular analyses on them.

Therapeutic Cloning
Therapeutic cloning is intended to use cloned embryos for the purpose of extracting stem cells
from them, without ever implanting the embryos in a womb. Therapeutic cloning enables the
cultivation of stem cells that are genetically identical to a patient. The stem cells could be
stimulated to differentiate into any of the more than 200 cell types in the human body. The
differentiated cells then could be transplanted into the patient to replace diseased or damaged
cells without the risk of rejection by the immune system. These cells could be used to treat a
variety of conditions, including Alzheimer disease, Parkinson disease, diabetes mellitus, stroke,
and spinal cord injury. In addition, stem cells could be used for in vitro (laboratory) studies of
normal and abnormal embryo development or for testing drugs to see if they are toxic or cause
birth defects.
Progress in research on therapeutic cloning in humans has been slow relative to the advances
made in reproductive cloning in animals. This is primarily because of the technical challenges
and ethical controversy arising from the procuring of human eggs solely for research purposes.
In addition, the development of induced pluripotent stem cells, which are derived from somatic
cells that have been reprogrammed to an embryonic state through the introduction of specific
genetic factors into the cell nuclei, has challenged the use of cloning methods and of human
eggs.

Lesson Proper for Week 10

ANIMAL STRUCTURE AND FUNCTION

Animals can look unique. They can also do unique things. Animals can sense the world around them. Most
animals have sensory organs. As an animal, you are able to hear. You can also smell, touch, and taste. Animals
can also move around. Movement allows animals to search for food. All of them are illustrated in Figure below.

Most animals share these characteristics: sensory organs, movement, and internal digestion.
Body Symmetry

At a very basic level of classification, true animals can be largely divided into three groups based on the type of
symmetry of their body plan: radially symmetrical, bilaterally symmetrical, and asymmetrical. Only a few animal
groups display radial symmetry, while asymmetry is a unique feature of phyla Porifera (sponges). All types of
symmetry are well suited to meet the unique demands of a particular animal’s lifestyle.

1. Radial Symmetry

Radial symmetry is the arrangement of body parts around a central axis, like rays on a sun or pieces in a pie.
Radially symmetrical animals have top and bottom surfaces, but no left and right sides, or front and back. The
two halves of a radially symmetrical animal may be described as the side with a mouth (“oral side”) and the side
without a mouth (“aboral side”).

Radial symmetry: Some organisms, like sea anemones (phylum Cnidaria), have radial symmetry.

2. Bilateral Symmetry

Bilateral symmetry involves the division of the animal through a sagittal plane, resulting in two mirror-image,
right and left halves, such as those of a butterfly, crab, or human body. Animals with bilateral symmetry have a
“head” and “tail” (anterior vs. posterior), front and back (dorsal vs. ventral), and right and left sides. All true
animals, except those with radial symmetry, are bilaterally symmetrical. The evolution of bilateral symmetry
and, therefore, the formation of anterior and posterior (head and tail) ends promoted a phenomenon
called cephalization, which refers to the collection of an organized nervous system at the animal’s anterior
end. In contrast to radial symmetry, which is best suited for stationary or limited-motion lifestyles, bilateral
symmetry allows for streamlined and directional motion. In evolutionary terms, this simple form of symmetry
promoted active mobility and increased sophistication of resource-seeking and predator-prey relationships.
Bilateral symmetry: This monarch butterfly demonstrates bilateral symmetry down the sagittal plane, with the
line of symmetry running from ventral to dorsal and dividing the body into two left and right halves.

3. Asymmetry

Only members of the phylum Porifera (sponges) have no body plan symmetry. There are some fish species,
such as flounder, that lack symmetry as adults. However, the larval fish are bilaterally symmetrical.

Major Animalia Phylums

1. Phylum Porifera

 Sponges, Very primitive, considered barely animals.

 Don’t have true organs or nerve or muscle cells

2. Phylum Annelida

 Earthworms, leeches, and other segmented worms live in water or damp soil
 A cluster of nerve cells at the anterior end serves as a simple brain.
 Reproduction occurs by splitting or by mutual fertilization

3. Mollusks (Mollusca)

 Includes snails, clams, slugs, squid, and their relatives.

 Mollusks have soft bodies with 3 parts
 A mass that contains most of the organs
 A muscular “foot” that is used in movement

4. Arthropods (Arthropoda)

 The largest animal phylum, and have jointed external skeletons.

 1 million species, crabs, shrimp, spiders, scorpions and insects make up this phylum
 Arthropods molt, have heads with many sensory organs.

5. Echinoderms (Echinodermata)
  Sea stars and sea urchins.
 Reproduce sexually. Sperm and eggs are released in water, where they meet and join.
 Movement by seawater into and out of a system of internal tubes .

6. Chordates (Chordata)

 Vertebrates-fish, amphibians, reptiles, birds, and mammals.

 The central nervous system (brain and spinal cord) is tubular
 They have a tail; in humans it’s the tailbone, or coccyx, which curls internally.

MUSCULAR SYSTEM

The muscular system is a set of tissues in the body with the ability to change shape. Muscle cells connect
together and eventually to elements of the skeletal system. When the muscle cells contract, force is created as
the muscles pull against the skeleton.

Muscular System Function

1. Movement

The most obvious function of the muscular system is movement. Organisms have adopted a variety of methods
to use the contractile function of the muscular system to move through the environment. The most basic
movements of fish include contracting muscles on opposite sides of the body in succession. This action propels
them through the water.

2. Circulation

The second and less obvious function of the muscular system is to assist with circulation. Visceral and cardiac
muscle tissues surround the blood vessels and lymph vessels that carry crucial nutrients and oxygen to the cells
of the body. Cardiac muscle makes up the heart and supplies the main force for blood traveling through the
body.

3. Digestion

Much like its ability to move fluids through vessels in the circulatory system, the muscular system also aids in
moving food through the digestive system. Most digestive organs are surrounded by smooth muscle tissue.
Although the tissue cannot be voluntarily contracted like skeletal muscles, it is controlled
subconsciously. When food needs to be moved through the gut, the muscles contract in a synchronized
fashion in a wave through the digestive system. These wave-like muscular contractions are called peristalsis.

Structure of Skeletal Muscle

A whole skeletal muscle is considered an organ of the muscular system. Each organ or muscle consists of
skeletal muscle tissue, connective tissue, nerve tissue, and blood or vascular tissue.

Skeletal muscles vary considerably in size, shape, and arrangement of fibers. They range from extremely tiny
strands such as the stapedium muscle of the middle ear to large masses such as the muscles of the thigh.
Some skeletal muscles are broad in shape and some narrow. In some muscles the fibers are parallel to the long
axis of the muscle; in some they converge to a narrow attachment; and in some they are oblique.
Each skeletal muscle fiber is a single cylindrical muscle cell. An individual skeletal muscle may be made up of
hundreds, or even thousands, of muscle fibers bundled together and wrapped in a connective tissue covering.
Each muscle is surrounded by a connective tissue sheath called the epimysium. Fascia, connective tissue
outside the epimysium, surrounds and separates the muscles. Portions of the epimysium project inward to
divide the muscle into compartments. Each compartment contains a bundle of muscle fibers. Each bundle of
muscle fiber is called a fasciculus and is surrounded by a layer of connective tissue called the perimysium.
Within the fasciculus, each individual muscle cell, called a muscle fiber, is surrounded by connective tissue
called the endomysium.

Muscle Types

In the body, there are three types of muscle: skeletal (striated), smooth, and cardiac.

1. Skeletal Muscle

Skeletal muscle, attached to bones, is responsible for skeletal movements. The peripheral portion of the central
nervous system (CNS) controls the skeletal muscles. Thus, these muscles are under conscious, or voluntary,
control. The basic unit is the muscle fiber with many nuclei. These muscle fibers are striated (having
transverse streaks) and each acts independently of neighboring muscle fibers.

2. Smooth Muscle

Smooth muscle, found in the walls of the hollow internal organs such as blood vessels, the gastrointestinal
tract, bladder, and uterus, is under control of the autonomic nervous system. Smooth muscle cannot be
controlled consciously and thus acts involuntarily. The non-striated (smooth) muscle cell is spindle-shaped
and has one central nucleus. Smooth muscle contracts slowly and rhythmically.

3. Cardiac Muscle

Cardiac muscle, found in the walls of the heart, is also under control of the autonomic nervous system. The
cardiac muscle cell has one central nucleus, like smooth muscle, but it also is striated, like skeletal muscle. The
cardiac muscle cell is rectangular in shape. The contraction of cardiac muscle is involuntary, strong, and
rhythmical.
Smooth and cardiac muscle will be discussed in detail with respect to their appropriate systems. This unit
mainly covers the skeletal muscular system.

SKELETAL SYSTEM

Humans are vertebrates, animals having a vertebral column or backbone. They rely on a sturdy internal frame
that is centered on a prominent spine. The human skeletal system consists of bones, cartilage, ligaments and
tendons and accounts for about 20 percent of the body weight.

The living bones in our bodies use oxygen and give off waste products in metabolism. They contain active
tissues that consume nutrients, require a blood supply and change shape or remodel in response to variations
in mechanical stress.

Bone Development and Growth

The terms osteogenesis and ossification are often used synonymously to indicate the process of bone
formation. Parts of the skeleton form during the first few weeks after conception. By the end of the eighth week
after conception, the skeletal pattern is formed in cartilage and connective tissue membranes and ossification
begins.

Bone development continues throughout adulthood. Even after adult stature is attained, bone development
continues for repair of fractures and for remodeling to meet changing lifestyles. Osteoblasts, osteocytes and
osteoclasts are the three cell types involved in the development, growth and remodeling of bones. Osteoblasts
are bone-forming cells, osteocytes are mature bone cells and osteoclasts break down and reabsorb bone.

Classification of Bones

1. Long Bones
The bones of the body come in a variety of sizes and shapes. The four principal types of bones are long, short,
flat and irregular. Bones that are longer than they are wide are called long bones. They consist of a long shaft
with two bulky ends or extremities. They are primarily compact bone but may have a large amount of spongy
bone at the ends or extremities. Long bones include bones of the thigh, leg, arm, and forearm.

2. Short Bones

Short bones are roughly cube shaped with vertical and horizontal dimensions approximately equal. They
consist primarily of spongy bone, which is covered by a thin layer of compact bone. Short bones include the
bones of the wrist and ankle.

3. Flat Bones

Flat bones are thin, flattened, and usually curved. Most of the bones of the cranium are flat bones.

4. Irregular Bones

Bones that are not in any of the above three categories are classified as irregular bones. They are primarily
spongy bone that is covered with a thin layer of compact bone. The vertebrae and some of the bones in the
skull are irregular bones.

All bones have surface markings and characteristics that make a specific bone unique. There are holes,
depressions, smooth facets, lines, projections and other markings. These usually represent passageways for
vessels and nerves, points of articulation with other bones or points of attachment for tendons and ligaments.

Lesson Proper for Week 11

CARDIOVASCULAR SYSTEM
The heart is a complex muscle that pumps blood through the three divisions of the circulatory
system: the coronary (vessels that serve the heart), pulmonary (heart and lungs),
and systemic (systems of the body), as shown in Figure. Coronary circulation intrinsic to the
heart takes blood directly from the main artery (aorta) coming from the heart. For pulmonary and
systemic circulation, the heart has to pump blood to the lungs or the rest of the body,
respectively. In vertebrates, the lungs are relatively close to the heart in the thoracic cavity. The
shorter distance to pump means that the muscle wall on the right side of the heart is not as thick
as the left side which must have enough pressure to pump blood all the way to your big toe.

The mammalian circulatory system is divided into three circuits: the systemic circuit, the
pulmonary circuit, and the coronary circuit.

 Blood is pumped from veins of the systemic circuit into the right atrium of the heart,
then into the right ventricle.
 Blood then enters the pulmonary circuit, and is oxygenated by the lungs. From the
pulmonary circuit, blood re-enters the heart through the left atrium. From the left
ventricle, blood re-enters the systemic circuit through the aorta and is distributed to
the rest of the body.
 The coronary circuit, which provides blood to the heart, is not shown.

Structure of the Heart

The heart muscle is asymmetrical as a result of the distance blood must travel in the pulmonary
and systemic circuits. Since the right side of the heart sends blood to the pulmonary circuit it is
smaller than the left side which must send blood out to the whole body in the systemic circuit, as
shown in Figure. In humans, the heart is about the size of a clenched fist; it is divided into four
chambers: two atria and two ventricles. There is one atrium and one ventricle on the right side
and one atrium and one ventricle on the left side. The atria are the chambers that receive blood,
and the ventricles are the chambers that pump blood. The right atrium receives deoxygenated
blood from the superior vena cava, which drains blood from the jugular vein that comes from
the brain and from the veins that come from the arms, as well as from the inferior vena
cava which drains blood from the veins that come from the lower organs and the legs. In
addition, the right atrium receives blood from the coronary sinus which drains deoxygenated
blood from the heart itself. This deoxygenated blood then passes to the right ventricle through
the atrioventricular valve or the tricuspid valve, a flap of connective tissue that opens in only
one direction to prevent the backflow of blood. The valve separating the chambers on the left
side of the heart valve is called the biscuspid or mitral valve. After it is filled, the right ventricle
pumps the blood through the pulmonary arteries, by-passing the semilunar valve (or pulmonic
valve) to the lungs for re-oxygenation. After blood passes through the pulmonary arteries, the
right semilunar valves close preventing the blood from flowing backwards into the right
ventricle. The left atrium then receives the oxygen-rich blood from the lungs via the pulmonary
veins. This blood passes through the bicuspid valve or mitral valve (the atrioventricular valve on
the left side of the heart) to the left ventricle where the blood is pumped out through aorta, the
major artery of the body, taking oxygenated blood to the organs and muscles of the body. Once
blood is pumped out of the left ventricle and into the aorta, the aortic semilunar valve (or aortic
valve) closes preventing blood from flowing backward into the left ventricle. This pattern of
pumping is referred to as double circulation and is found in all mammals.

The heart is composed of three layers; the epicardium, the myocardium, and
the endocardium, illustrated in Figure.
The inner wall of the heart has a lining called the endocardium.
The myocardium consists of the heart muscle cells that make up the middle layer and the bulk
of the heart wall.
The outer layer of cells is called the epicardium, of which the second layer is a membranous
layered structure called the pericardium that surrounds and protects the heart; it allows enough
room for vigorous pumping but also keeps the heart in place to reduce friction between the heart
and other structures.
The heart has its own blood vessels that supply the heart muscle with blood. The coronary
arteries branch from the aorta and surround the outer surface of the heart like a crown. They
diverge into capillaries where the heart muscle is supplied with oxygen before converging again
into the coronary veins to take the deoxygenated blood back to the right atrium where the blood
will be re-oxygenated through the pulmonary circuit. The heart muscle will die without a steady
supply of blood. Atherosclerosis is the blockage of an artery by the buildup of fatty plaques.
Because of the size (narrow) of the coronary arteries and their function in serving the heart itself,
atherosclerosis can be deadly in these arteries. The slowdown of blood flow and subsequent
oxygen deprivation that results from atherosclerosis causes severe pain, known as angina, and
complete blockage of the arteries will cause myocardial infarction: the death of cardiac muscle
tissue, commonly known as a heart attack.
(a) The heart is primarily made of a thick muscle layer, called the myocardium, surrounded by
membranes. One-way valves separate the four chambers. (b) Blood vessels of the coronary
system, including the coronary arteries and veins, keep the heart musculature oxygenated.
The heart is composed of three layers; the epicardium, the myocardium, and the endocardium,
illustrated in Figure. The inner wall of the heart has a lining called the endocardium.
The myocardium consists of the heart muscle cells that make up the middle layer and the bulk
of the heart wall. The outer layer of cells is called the epicardium, of which the second layer is a
membranous layered structure called the pericardium that surrounds and protects the heart; it
allows enough room for vigorous pumping but also keeps the heart in place to reduce friction
between the heart and other structures.
The heart has its own blood vessels that supply the heart muscle with blood. The coronary
arteries branch from the aorta and surround the outer surface of the heart like a crown. They
diverge into capillaries where the heart muscle is supplied with oxygen before converging again
into the coronary veins to take the deoxygenated blood back to the right atrium where the blood
will be re-oxygenated through the pulmonary circuit. The heart muscle will die without a steady
supply of blood.

The Cardiac Cycle

The main purpose of the heart is to pump blood through the body; it does so in a repeating
sequence called the cardiac cycle. The cardiac cycle is the coordination of the filling and
emptying of the heart of blood by electrical signals that cause the heart muscles to contract and
relax. The human heart beats over 100,000 times per day. In each cardiac cycle, the heart
contracts (systole), pushing out the blood and pumping it through the body; this is followed by a
relaxation phase (diastole), where the heart fills with blood, as illustrated in Figure. The atria
contract at the same time, forcing blood through the atrioventricular valves into the ventricles.
Closing of the atrioventricular valves produces a monosyllabic “lup” sound. Following a brief
delay, the ventricles contract at the same time forcing blood through the semilunar valves into
the aorta and the artery transporting blood to the lungs (via the pulmonary artery). Closing of the
semilunar valves produces a monosyllabic “dup” sound.
RESPIRATORY SYSTEM

This chart of the Respiratory System shows how we breathe. Breathing is the process that
brings oxygen in the air into your lungs and moves oxygen and through your body. Our lungs
remove the oxygen and pass it through our bloodstream, where it's carried off to the tissues and
organs that allow us to walk, talk, and move. Our lungs also take carbon dioxide from our blood
and release it into the air when we breathe out.
The Sinuses are hollow spaces in the bones of your head. Small openings connect them to the
nasal cavity. The sinuses help to regulate the temperature and humidity of the air you breathe in,
as well as to lighten the bone structure of the head and to give tone to your voice. The Nasal
Cavity (nose) is the best entrance for outside air into your respiratory system. The hairs that line
the inside wall are part of the aircleansing system. Air can also enters through your Oral
Cavity (mouth), especially if you have a mouthbreathing habit or your nasal passages may be
temporarily blocked.
The Adenoids are overgrown lymph tissues at the top of the throat. When your adenoids
interfere with your breathing, they are sometimes removed. The lymph system, consisting of
nodes (knots of cells) and connecting vessels, carries fluid throughout the body. This system
helps your body resist infection by filtering out foreign matter, including germs, and producing
cells (lymphocytes) to fight them. The Tonsils are lymph nodes in the wall of your pharynx.
Tonsils are not an important part of the germ-fighting system of the body. If they become
infected, they are sometimes removed.
The Pharynx (throat) collects incoming air from your nose and passes it downward to your
trachea (windpipe). The Epiglottis is a flap of tissue that guards the entrance to your trachea. It
closes when anything is swallowed that should go into the esophagus and stomach.
The Larynx (voice box) contains your vocal cords. When moving air is breathed in and out, it
creates voice sounds.
The Esophagus is the passage leading from your mouth and throat to your stomach.
The Trachea (windpipe) is the passage leading from your pharynx to the lungs. The Ribs are
bones supporting and protecting your chest cavity. They move a small amount and help the lungs
to expand and contract. The trachea divides into the two main Bronchi (tubes), one for each
lung. The bronchi, in turn, subdivide further into bronchioles. The Right Lung is divided into
three Lobes, or sections. The left lung is divided into two Lobes. The Pleura are the two
membranes that surround each lobe of your lungs and separate the lungs from your chest wall.
The bronchial tubes are lined with Cilia (like very small hairs) that have a wave-like motion.
This motion carries Mucus (sticky phlegm or liquid) upward and out into the throat, where it is
either coughed up or swallowed. The mucus catches and holds much of the dust, germs, and
other unwanted matter that has invaded your lungs. Your lungs get rid of the mucus through
coughing.
The Diaphragm is the strong wall of muscle that separates your chest cavity from your
abdominal cavity. By moving downward, it creates suction to draw in air and expand the lungs.
The smallest section of the bronchi are called Bronchioles, at the end of which are the alveoli
(plural of alveolus). The Alveoli are the very small air sacs that are the destination of air that you
breathe in. The Capillaries are blood vessels that are imbedded in the walls of the alveoli. Blood
passes through the capillaries, brought to them by the Pulmonary Artery and taken away by
the Pulmonary Vein. While in the capillaries, the blood moves carbon dioxide into the alveoli
and takes up oxygen from the air in the alveoli.

Mechanics of Breathing
Boyle's Law describes the relationship between the pressure (P) and the volume (V) of a gas.
The law states that if the volume increases, then the pressure must decrease (or vice versa). This
relationship is often written algebraically as PV = constant, or P 1V 1 = P 2V 2. Both equations
state that the product of the pressure and volume remains the same. (Boyle's Law applies only
when the temperature does not change.)
Breathing occurs when the contraction or relaxation of muscles around the lungs changes the
total volume of air within the air passages (bronchi, bronchioles) inside the lungs. When the
volume of the lungs changes, the pressure of the air in the lungs changes in accordance with
Boyle's Law. If the pressure is greater in the lungs than outside the lungs, then air rushes
out. If the opposite occurs, then air rushes in. Here is a summary of the process:
1. Inspiration occurs when the inspiratory muscles—that is, the diaphragm and the external
intercostal muscles—contract. Contraction of the diaphragm (the skeletal muscle below the
lungs) causes an increase in the size of the thoracic cavity, while contraction of the external
intercostal muscles elevates the ribs and sternum. Thus, both muscles cause the lungs to expand,
increasing the volume of their internal air passages. In response, the air pressure inside the lungs
decreases below that of air outside the body. Because gases move from regions of high pressure
to low pressure, air rushes into the lungs.
2. Expiration occurs when the diaphragm and external intercostal muscles relax. In response, the
elastic fibers in lung tissue cause the lungs to recoil to their original volume. The pressure of the
air inside the lungs then increases above the air pressure outside the body, and air rushes out.
During high rates of ventilation, expiration is facilitated by contraction of the expiratory muscles
(the intercostal muscles and the abdominal muscles).
Lung compliance is a measure of the ability of the lungs and thoracic cavity to expand. Due to
the elasticity of lung tissue and the low surface tension of the moisture in the lungs (from the
surfactant), the lungs normally have high compliance.