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2

CYTOLOGICAL BASES OF HEREDITY

MODULE OVERVIEW

Figure 1: Chromosomes: EM image by Andrew Syred/ Figure 2: Chromosomes: 3D image

Science Source : [Link] Credit: iStock: [Link]

This module reviews the structure of the simplest unit of a living organism- the cell, including its parts
and functions. It focuses on the nucleus where the chromosomes are located. The physical features of the
chromosomes are also discussed here.
Boveri and Sutton's chromosome theory of inheritance states that genes are found at specific
locations on chromosomes, and that the behavior of chromosomes during meiosis can explain Mendel’s laws
of inheritance.

MODULE LEARNING OBJECTIVES

1. Recall the concept of Cell and cell theories

2. Compare and contrast the events happening in every stages of mitosis and meiosis and

3. Analyze the importance of meiosis in the inheritance of characteristics from parents to offspring

3. Enumerate types and describe morphology of chromosomes

LEARNING CONTENTS (The Cell)

All living things are made up of a living material, the protoplasm, which, in most cases, has a protective
and absorptive membrane boundary between itself and its environment. The protoplasm and the boundary
are organized to form a unit, the cell, which had some important similarities in all organisms. Unicellular and
multicellular organisms have cell structure which usually consists of two distinct areas: the cytoplasm, the
major portion of the protoplasmic substance contained in the cell membrane, and the nucleus, a dark-staining
body within the cytoplasm.

There are two kinds of organisms according to the presence or absence of certain structures in the
cell. The prokaryotes, consisting of bacteria and blue-green algae, have no nuclear membrane that separates
the contents of the cytoplasm from the nucleus. The eukaryotes on the other hand, which consists of the
majority of living species and multicellular organisms, have nucleus membrane that separates the genetic
material from the cytoplasm. Viruses are neither of the two groups. They are organisms that must utilize the
cellular activity of their host and which does not have the cell membrane nor the nuclear membrane that are
present in eukaryotes. The only membrane present in viruses is the vital envelope enclosing primarily the viral
genetic material.

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Within the cytoplasm is a number of organelles with active cell function. Their size and presence vary
between different organisms and between tissues. The most important chemical constituent of living
organisms are proteins, and various aspects of their function, structure, synthesis are important to consider.
The nucleus, the main focus for identifying the genetic material, is the primary director of cellular activity and
inheritance. Under the light microscope, staining by various chemical dyes the nucleus consist of dark
network, called chromatin, which, during the process of cellular division, becomes organized as distinct bodies
called chromosomes.

NATURE OF CHROMOSOME

Chromosomes vary in size, shape, nature of banding, and the number among different species. It
may be as short as ¼ micron (1 micron = 1 micrometer = .001 millimeter) in fungi and birds, or as long as 30
microns in Trillium plants. Most metaphase chromosomes range from 3.5 microns in Drosophila, 5 microns in
man, and 8 to 10 microns in corn. The fibers that constitute the chromosome range in thickness from 100
angstroms (1 angstrom = .0001 micron =. 0000001 millimeter ) to about 500 angstroms depending upon the
treatment to which they have been subjected. Most often the main fibrous element observed is about 250
angstroms in diameter.

Chromosomes undergoing mitosis are usually rod-like bodies, each with a constriction at the
centromere, called the primary constriction. Further constrictions can be found in some chromosomes which
results from pinching off a small chromosomal section called a satellite. They are often associated with
regions where the nucleolus is formed or attached and are thus called nuclear organizers. Along the length of
a chromosome are knoblike regions, chromo meres, which show distinct sizes and occupy specific positions,
giving non homologous chromosomes their distinct morphological appearance.

Fig. 2.1 A generalized mitotic chromosome with structures often describe under the light microscope. Each
thin chromosome strand (chromonema) is believed to undergo extensive coiling in certain areas to produce
the densely visible chromosome. (After Strickberger)

Chromosome may be classified on the basis of the location of their centromere as:

(1) Metacentric, centromere central arms of equal or essentially equal length,

(2) Sub metacentric, centromere sub median, giving one longer and one shorter arm,
(3) Acrocentric, centromere very near one end and arms very unequal in length,
(4) Telocentric, centromere terminal with only one arm.

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Fig. 2.2 Digrammatic representation of three types of chromosome based on centromere position: (a)
metacentric; (b) acrocentric; (c) telocentric. (After Strickberger )

Fig. 2.3 Diagrammatic comparison of normal human male karyotype as observed with Q-, G-, and R-
banding techniques. The centromere is represented as observed in Q-banding only. (After Bums)

In interphase and early prophase, chromosomes are in the form of chromatin can be observed:
heterochromatin, tightly coiled or condensed and euchromatin, no condensed. The first is often in close

contact with the nucleolar organizer of a specific chromosome. During nuclear division heterochromatin may
occur in the region of the centromeres, at the ends of the arms or in other intercalary positions. They are
known to contain genetically active regions which include repetitive DNA, nucleolar organizers, and genes for
some of the RNA molecules.

Chromosome Banding. Positive identification of chromosomes was a breakthrough in1968 and 1969. It
was found that many dyes that have an affinity for DNA fluoresce under ultraviolet light. Chromosomes, after
suitable treatment with dyes, show bright and dark zones, or bands, which are specific in location and extent
for that chromosome. These bands are best seen in metaphasic chromosomes. Dyes such as quinacrine
mustard and giemsa stain produced Q-bands and G-bands respectively on the chromosomes. Cells are also
treated with alkali which leads to dense, bright staining in the centrometric region. This produces the C-
banding which is specific for heterochromatin.

Chromosome number. There are two kinds of cells, somatic and germ cells that are present in sexually
reproducing organisms. Somatic or body cells contain diploid number of chromosomes in contrast to matured
germ cells which are haploid, containing only half the number of chromosomes are somatic cells. Somatic
chromosomes of diploid organisms are found in pairs (homologous pair), the members of each pair being

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alike in size, in position of spindle attachment, and in bearing genes relating to the same hereditary
characters. One member of a pair of homologous chromosomes is paternal, the other is maternal.

The number of chromosomes found in various species of animals and plants varies. The lowest
diploid number in the cell of any organism I s2, which is found in certain round worms; the largest number,
300 or more, is found in some protozoa. Man has 46.

Table 2.1
Chromosome Numbers of Different Species of Animals and Plants

Animals Diploid number. Plants Diploid number

Man 46 yeast 18
Rhesus monkey 42 green algae 20
Cattle 60 barley 16
Dog 78 rice 14
Horse 64 spider wort 24
Cat 38 wheat 24
Donkey 62 corn 20
House mouse 40 snapdragon 16
Rat 42 squash 40
Golden hamster 44 upland cotton 52
Guinea pig 64 tomato 24
Rabbit 44 tobacco 48
Pigeon 80 evening primrose 14
Chicken 78 kidney bean 22
Alligator 32 white oak 24
Toad 22 pine 24
Frog 26 garden pea 14
Carp 104 potato 48
starfish 36 white clover 32
silkworm 56 broad bean 12
rod ant 48 fruit fly 8
house fly 12 slime mold haploid number 7
mosquito 6 mold 7
cockroach 23 male 24 female pink bread mold 8
grasshopper 24 penicillin mold 4
honeybee 32 freshwater hydra 32
flatworm 16
nematode 1 male 12 female

Both male and female in most diploid organisms possess the full diploid number of
chromosomes. In some organisms as bees, the sexes differ in the number of sets of chromosomes, the
females being diploid and the males haploid.

LEARNING CONTENTS (title of the subsection)

CELL DIVISION
Cell division is an important activity of all kinds of cells. Unicellular organisms divide in order to
reproduce. In multicellular organisms, cell division results to growth and development. Adult form is attained
by increase in the number of cells, size, and differentiation from zygote to maturity.
There are two integrated activities in the division of nucleated cells, nuclear division or karyokinesis
and cytoplasmic division or cytokinesis. Plants and animal cells exhibit two types of nuclear division, mitosis
but only reproductive cells undergo meiosis.

A. MITOSIS
The process of mitosis is divided for convenience into four stages or phases: prophase, metaphase,
anaphase, and telophase. Each stage merges into the next without sharp lines of transition. The sequence of
events transpiring from the close of one nuclear division to the beginning of the next one is the interphase
stage. Genetically, the DNA content of the nucleus is the important constituent that is duplicated between
divisions. Thus, when the cell begins mitosis, it has a double set of chromosomes.

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Interphase. Interphase or intermitotic period consists of processes associated with growth and
preparation for mitosis. The duration of interphase (3 hours to 174 hours) is many times longer compared to
the period of entire mitosis, which may range from about ten minutes to a few hours. In humans, interphase
occupies some 18 to 24 hours. It is divided for convenience into the following stages.
G1. The first growth or gap stage of interphase is the stage in which nucleus and cytoplasm are
enlarging toward mature size. Active synthesis of ribonucleic acid (RNA) and protein takes place during this
stage.
S. the synthesis stage is the stage whereby replication of DNA and synthesis of histones occur.
G2. The second growth or gap period is the period in which new DNA is rapidly complexed with
chromosomal proteins, and in which synthesis of RNA and proteins continues.

Fig.2.4 The eukaryotic cell cycle

Prophase. In prophase, the first stage of mitosis, the preparations for cell division new chromosomes
are now synthesized in those cases where they have not been formed in the interphase. Coiling of
chromosomes and their condensation make them visible as threadlike structures. Each of the mitotic
prophase chromosomes appears longitudinally split into two duplicates called chromatids. The two sister
chromatids of each chromosome are held together by strands in a specialized region, the centromere. Further
movement of each half to opposite sides of the nucleus, and the beginning of the breakdown of the nuclear
membrane.
As prophase progresses, the mitotic apparatus, consisting of the spindle and associated structures, begins
to form. They are slender microtubules that often very nearly from one “end” of the cell to the other. They are
classified as (1) continuous fibers, continuous from pole to pole of the mitotic apparatus, (2) chromosomal
fibers, extend from one pole to each chromosome, and (3) interzonal fibers, run between the centromeres of
the separating daughter later on in anaphase.
The close of prophase is marked by the movement of the longitudinally double chromosomes to the
midplane or equator, a period called prometaphase or metakinesis.

Metaphase. This stage is characterized by the alignment of the chromosomes at the equatorial
plane. The chromosomes are shortest and thickest during this stage. The sister chromatids are still held
together by connecting chromatin fibers at the centromere region.

Anaphase. During this stage, the sister chromatids separate and move as daughter chromosomes to
the spindle poles. Whereas in metaphase each chromosome is made up of two chromatids; in anaphase,
each daughter chromosome is no longer made up of chromatids. Anaphase accomplishes the quantitatively
equal distribution of chromosomal material to two developing daughter nuclei.

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Fig.2.5 Various stages of mitosis in a somatic cell.

Telophase. The beginning of telophase is marked by the arrival of the daughter chromosomes at the
spindle poles; the end is marked by the reorganization of two new nuclei and their entry to the interphase
stage. Generally, telophase events are the reversed of prophase. New nuclei membranes are constructed,
mitotic apparatus gradually disappears nuclei are performed and chromosome resume their long, slender,
extended form as their coils relax.

Although initiated in anaphase, cytokinesis division of the cytoplasm occurs during telophase this
process is accomplished by formation of a cell plate in plant cells and by a cleavage furrow in animal cells.

Significance of Mitosis. Mitosis accomplishes equal distribution of chromosomes to the resulting daughter
cells. Since genes are located in the chromosomes each daughter nucleus produce in the mitosis would be
equal to the parent nucleus in quality and in quantity of its genes.

B. MEIOSIS
The exact replication and splitting of each chromosome into two identical parts and their subsequent
separation into two cells would not ordinarily lead to any change in chromosome number between the parent
and daughter cells. The mitotic division of four chromosomes for example, could only be expected to give rise
to daughter cells with the similar number. In organism whose cells are always formed by asexual means, the
number of chromosomes should therefore remain constant between generations. In sexually reproducing
organism, however, where zygote is formed by fertilization between male and female gametes, the embryonic
cells would have doubled the chromosomes of each parent if no reduction in number occurred during sex cell
formation.

Sexually reproducing organisms have evolved a mechanism that enabled them to regularly reduce
the number of chromosomes in each gamete to half the usual number. If, for example, four were the regular
diploid chromosome number (2n) in somatic cells then the reduced or haploid number in the sex cells would

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be two. Meiosis comes from a Greek word meaning “to diminish” is simply the process by which the
chromosomes are separated during the formation of the sex cells and their number reduced from the diploid
to the haploid condition. Fertilization then marks the event in which two haploid nuclei join to reform a diploid
cell. Most organisms are composed of diploid except for their gametes.

2n n
meiosis
2n
meiosis n fertilization

2n
Some organisms are haploid for most of their life cycle but then, through fertilization of two haploid
sex cells; produce a diploid zygote that undergoes meiosis to form again a haploid stage. The number, as well
as the size and shape of the chromosomes of a species, is usually constant and is called its karyotype.

Meiosis involves two nuclear divisions, termed meiosis I first meiotic division) and meiosis II (second
meiotic division). The phases are given the same names as in mitosis although there are important
differences especially meiosis I. the first division represents a reduction in which members of homologous
chromosomes are separated into daughter cells without duplication.

Meiosis I
In multicellular organisms, meiosis occurs only in relatively few, specialized cells in reproductive
organs. Meiosis begins in these cells with the replication of the chromosomes. As in mitosis, the sister
chromatids of each chromosome are attached to one another at the centromere. From this point, meiosis I
differs tremendously from mitosis.

Prophase I. The first meiotic prophase often persists for a very long time, and may be measured in
weeks or months or even longer. In the human female it persists in each primary oocyte from a fetal age of 12
to 16 weeks until ovulation, generally once each 28 days, after sexual maturity. Some human oocyte,
therefore, persist in arrested prophase I until the end of the reproductive cycle, at menopause. This may be
some 45 years more or less.

The first meiotic prophase is subdivided into the following five stages: leptotene, zygotene, pachytene,
diplotene, and diakinesis (fig. 2.6). In leptotene stage, the chromosomes appear as long slender threads with
many beadlike structures (chromosomes) along their length. Studies show that replication has occurred in the
synthesis stage of the preceding interphase. During the zygotene stage homologous chromosomes appear to
attract each other and enter into a very close zipper like pairing, termed synapsis. This pairing is highly exact
and specific, taking place between all homologous chromosomes. A structure called the synaptonemal
complex can be observed between synapsed chromosomes through electron microscopy. It appears as a
ribbon like group of three longitudinal components organized in two dense lateral elements and a thin central
elements composed primarily of proteins. The synaptonemal complex may function to pull chromosomes
together helping them to pair more precisely and efficiently.

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Figure 2.6 stages of meiosis

The synaptonemal complex is completed at the next stage of the prophase I (pachytene), during
which the synapsed homologous now are clearly seen to be composed of two chromatids each. This group of
four chromatids is known as a bivalent or tetrad, and a series of exchanges of genetic material can occur only
or has already occurred between non-sister homologous chromatids (fig. 2.7). Such exchanges can be
detected by special means and signify the genetic mechanism of crossing over, or recombination. The point at
which exchange of material occurs between non-sister chromatids is evidenced by more or less X-shaped
configurations, the chiasmata. The longer the chromosome pair, the greater the likelihood of more than one
chiasmata, although one chiasmata appears to interfere with the formation of another in a closely adjacent
region of the chromosomes of the same side of the centromere.

In diplotene stage separation of homologous (except at points where chiasmata occur) is initiated.
Chromosomes continue to contract and the nucleolus begins to disappear.

Finally, in the last stage of prophase I, diakinesis, chromosomes reach maximum contraction. The
bivalents usually migrate close to the nuclear membrane and become evenly distributed. The nucleolus either
disappears or detaches from its associated chromosome. During the latter part of this stage, or the early part
of metaphase, the nuclear membrane dissolves and the bivalents attach themselves by their centromeres to
the rapidly forming spindle.

Metaphase I. In metaphase I the chromosomes reach their most condensed state and appear
relatively smooth in outline. The chiasmata that had first appeared during diplotene have now moved toward
the ends of each chromosomes, leaving only the single terminal attachment between the formerly paired arms
of homologous chromosomes. These remaining chiasmata prevent the separation of the homologous
chromosomes which now lie on each side of the equatorial plate of the spindle stretched by their respective
centromeres toward opposite poles.

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[Link]

Figure 2.7 Pairing between homologous metacentric chromosomes, and subsequent exchange of
chromosome material in each arm leading to the formation of a bivalent with two chiasmata.

Anaphase I. Although previously duplicated along its entire length, each chromosome still maintains
only a single functional centromere for both of its sister chromatids. The separation, or disjunction of one
homologous chromosome from one another in anaphase toward opposite poles therefore results in this single
centromere (which may be structurally split) dragging both chromatids (dyad) along with it. The chiasmata slip
off the ends of the chromosomes as they are pulled apart, and the poleward chromatids are now bound
together at only one point, the centromere. Since two chromatids compose each dyad, their appearance
depends on the position of the centromere: a double V if the chromosome is either a metacentric or
acrocentric, and a single V if telocentric.

Telophase I. These stages vary considerably between organisms. In most cases the dyads reach
one of the spindle poles, a nuclear membrane is forms around them, and the chromosome s pass into a short
interphase before the second meiotic division begins. In the plant Trillium the anaphase group of dyads enter
immediately into the second meiotic division, skipping telophase and interphase. Usually the sequence of
events is so rapid that the interphase chromosomes are not physically extended as in mitosis, nor is there
sufficient time to form a single large nucleolus. Cytokinesis may occur during this stage or may be postponed
until simultaneous formation of four daughter cells at the end of the second meiotic division.

Meiosis II
The chromosomes enter the prophase of the second meiotic division (prophase II) as dyads or two
sister chromatids connected together in their centromere region. Metaphase II is marked by completion of
spindle apparatus and migration of the chromosomes to the equator of the cell. As soon as the connected
centromeres divide, each chromatid (monad) separates from its sister and moves to the opposite pole in
anaphase II. Telophase II and cytokinesis follow rapidly, giving rise to four haploid cells from each initial
diploid cell that entered meiosis.

In a cell which consists of a diploid number of two chromosomes, or one pair of homologous, the
meiotic events leading to reduction in chromosome number can be summarized as follows:
Meiosis I:
Metaphase I; one bivalent or tetrad (two chromosomes of four chromatids on the metaphase spindle)
Anaphase I; one dyad (one chromosome or two chromatids) pass to each pole.

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Meiosis II:
Metaphase II; one dyad on the spindle in each daughter cell
Anaphase II; one monad (one chromatid) pass to each pole.

Significance of Meiosis
The basic significance of meiosis is the formation of four monoploid (haploid) nuclei from a single
diploid nucleus in two successive divisions, thereby preventing the doubling of chromosome number that
result from fertilization. The first meiotic division reduces the chromosome number from diploid to haploid,
whereas the second is similar to mitosis in distributing equal numbers of chromosomes to the resulting
daughter cells. The cellular products of meiosis directly become gametes and/or polar bodies in higher
animals, but in vascular plants the meiotic products are meiospores which give rise to reduced gamete-
bearing plants.

Genetic variability is generated by meiosis in two ways: (1) random assortment of paternal and
maternal chromosomes and (2) crossing- over. This occurs during prophase of the first meiotic division when
homologous chromosomes pair, synapse and cross- over resulting to exchange in genetic materials. Each
gamete therefore has a unique combination of genes which is different from any other gamete.

Fig.2.8 Mitosis & meiosis compared

[Link] /mitosis+vs+[Link]

Gametogenesis in Mammals
In mammals, the somatic cells are diploid, while the mature gametes are haploid. Meiosis immediately
precedes the formation of gametes. The diploid condition is restored in fertilization. The following steps are
involved. In the male: (a) Development of diploid primary spermatocytes, (b) Meiosis. The two haploid
products of the first meiotic division are called secondary spermatocytes. The four cells resulting from the
second meiotic division are called spermatids, and (c) Maturation of spermatids into sperm. In the female: (a)
Development of diploid primary oocytes, (b) Meiosis.
The first division produces two unequal cells, a smaller first polar body and a larger secondary oocyte.
The second division produces two second polar bodies from the first polar body and, from the secondary

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oocyte, a third second polar body and a lager ootid, and (c) Maturation of one egg from the ootid;
degeneration of the three second polar bodies.

[Link]
Fig. 2.9 Gametogenesis in higher animals. (After Strickberger)

SUMMARY

Cells also contain the body's hereditary material and can make copies of themselves. Cells have many
parts, each with a different function. Some of these parts, called organelles, are specialized structures that
perform certain tasks within the cell.
Chromosomes vary in size, shape and number among species. It may be as short as ¼ micron, or as
long as 3.5 microns.
Under the light microscope, staining by various chemical dyes, the nucleus consist of a dark network
called chromatin in which during the process of cell division- becomes organized as distinct bodies called
CHROMOSOMES.
Chromosomes undergoing mitosis are usually rod-like bodies, each with a constriction at the
centromere. They are linear end to end arrangement of genes and DNA (some proteins and RNA).
Chromosomes are classified
Cell division is the production of two new and identical cells from one single cell. In both prokaryotes
and eukaryotes, DNA replication must occur before cell division. In prokaryotes, cell division occurs by binary
fission

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Mitosis produces two diploid (2n) somatic cells that are genetically identical to each other and the
original parent cell, whereas meiosis produces four haploid (n) gametes that are genetically unique from each
other and the original parent (germ) cell. Gametogenesis is the process in which the diploid cells change into
mature gametes.

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