Chapter 3

Chromosomal Basis Of Inheritance, Sex

Determination And Sex Linkage

1
 Introduction
 Chromosomes are thread-like molecules that carry
hereditary information for everything.

They are made of protein and one molecule of DNA,

which contains an organism’s genetic instructions,
passed down from parents.

• In Eukaryotic cells, most

chromosomes are arranged in
pairs within the nucleus of a cell.

2
• Genes are physically located within chromosomes.

• Biochemically, each chromosome contains a very long

segment of DNA, which is the genetic material, and
proteins, which are bound to the DNA and provide it with
an organized structure.

•In eukaryotic cells, this complex between DNA and

proteins is called chromatin.

3
 3.1 Chromosomes-features, morphology,
number & nomenclature
• When the term was first suggested, no one had any
idea as to what a gene might look like.
• The term was used simply to convey the idea that
traits are transmitted from one generation to the next
in certain discrete units.
• The term "chromosome" was first suggested in 1888
by the German anatomist Heinrich Waldeyer (1836–
1921).
• He used the term to describe certain structures that
form during process of cell division (reproduction).
4
 The word chromosome comes from the Greek
words; chroma - color and soma - body due to their
property of being very strongly stained by particular
dyes.

 Chromosomes contain DNA-bound proteins, which

serve to package the DNA and control its functions.

 Number and size of chromosomes vary widely

between different organisms.

 Each species has a characteristic set of

chromosomes.
5
• Within a species, the number of chromosomes is
almost always an even multiple of a basic number.
• In humans, for example, the basic number is 23;
mature eggs and sperm have this number of
chromosomes.

• Most other types of human cells have twice as many

(46), although a few kinds, such as some liver cells,
have four times (92) the basic number.
• The haploid, or basic, chromosome number (n)
defines a set of chromosomes called the haploid
genome.
6
• Most somatic cells contain two of each of the chromosomes in
this set and are therefore diploid (2n).

• Cells with four of each chromosome are tetraploid (4n),

those with eight of each are octoploid (8n), and so on.

• The basic number of chromosomes varies among

species.

• Chromosome number is unrelated to the size or biological

complexity of an organism, with most species containing
between 10 and 40 chromosomes in their genomes.

• The muntjac, a tiny Asian deer, has only three chromosomes in

its genome, whereas some species of ferns have many hundreds.
7
 Chromosome number of some organisms
Haploid
Chromosome
Organism: Number:

Baker’s yeast (Saccharomyces cerevisiae) 16

Maize (Zea mays) 10
Tomato (Lycopersicon esculentum) 12
Fruit fly (Drosophila melanogaster) 4
Mosquito (Anopheles culicifacies) 3
Human (Homo sapiens) 23
Chimpanzee (Pan troglodytes) 24
Cat (Felis domesticus) 36
Chicken (Gallus domesticus) 39

 C-value is the amount of DNA that comprises the haploid

genome for a given species. 8
 The DNA molecule may be circular or linear, and can be
composed of 10,000 to 1,000,000,000 nucleotides in a long
chain.
 Today, we know that a chromosome contains a single
molecule of DNA along with several kinds of proteins.

 A molecule of DNA, in turn, consists of thousands and

thousands of subunits, known as nucleotides, joined to each
other in very long chains.

 A single molecule of DNA within a chromosome may be

as long as 8.5 centimeters (3.3 inches).

 To fit within a chromosome, the DNA molecule has to be

twisted and folded into a very complex shape.
9
• After the discovery of Chromosomes, subsequent
investigations with many different organisms
established that chromosomes are characteristic of the
nuclei of all cells.

• They are best seen by applying dyes to dividing cells;

during division, the material in a chromosome is
packed into a small volume, giving it the appearance
of a tightly organized cylinder.

• During the interphase between cell divisions,

chromosomes are not so easily seen, even with the
best of dyes.
10
• Interphase chromosomes are loosely coiled, forming
thin threads that are distributed throughout the
nucleus.
• Consequently, when dyes are applied, the whole nucleus is
stained and individual chromosomes cannot be identified.

• This diffuse network of threads is called chromatin.

• Some regions of the chromatin stain more darkly
than others, suggesting an underlying difference in
organization.
• The light regions are called the euchromatin (from the
Greek word for “true”), and the dark regions are called the
heterochromatin (from the Greek word for “different”).
11
 Structure of chromosomes

Eukaryotes and Prokaryotes Chromosomes difference

PROKARYOTES
single chromosome plus
plasmids
circular chromosome
made only of DNA
found in cytoplasm
copies its chromosome and
divides immediately afterwards through mitosis to organise chromosomes in two12
EUKARYOTES
many chromosomes
linear chromosomes
made of chromatin, a nucleoprotein (DNA coiled
around histone proteins)
found in a nucleus
copies chromosomes, then the cell grows, then goes
equal groups
Molecular structure of chromosomes:
• The nuclear chromosomes of eukaryotes are complexes of DNA,
histone proteins, non-histone chromosomal proteins and RNA
and are collectively called chromatin.
• By weight, eukaryotic chromosomes contain approximately
twice as much protein as DNA.

• The large amount of DNA present in eukaryotic chromosomes is

compacted by association with histones, forming structures
called nucleosomes.

• Nucleosomes fold further into chromatin fibers.

• Each chromosome contains a large number of looped domains of

30-nm chromatin fibers attached to a protein scaffold.
13
 Histones:
• Small basic proteins which exist in constant amount in cells
• 5 main types: H1, H2A, H2B, H3 & H4
• H2A, H2B, H3 & H4 are highly conserved among distinct
species but H1 varies in cells
• Histone proteins are among the most conserved proteins

 Non-histone proteins :
• All DNA chromosomal proteins other than histones
• They are structural proteins or enzymes i.e. DNA replication
enzymes, regulatory proteins, transcription factors…
• Unlike histone proteins, differ in number and type in different
cell types

14
Package of DNA into Eukaryotic chromosomes
 In eukaryotes, DNA is tightly bound to an equal mass of
histones, which serve to form a repeating array of DNA-
protein particles, called nucleosomes.

 If it was stretched out, the DNA double-helix in each human

chromosome would span the nucleus thousands of time.

 Histones play a crucial role in packing this very long DNA

molecule in an orderly way (i.e., nucleosome) into nucleus
only a few micrometres in diameter.

 Each nucleosome is a disc-shaped particle with a diameter of

about 11 nm and 5.7 nm in height containing 2 copies of each
4 nucleosome histones–H2A, H2B, H3 and H4.

15
 Each nucleosome bead is separated from the next by a region,
which is called linker DNA, and is generally 54 base pair long and
contains single H1 histone protein molecule.

 Histones carry a positive charge and DNA carries a negative

charge, so they are held together by electrostatic attraction.
16
 Nucleosomes connected together by linker DNA and H1 histone
to produce the “beads-on-a-string” extended form of
chromatin.

 After this, this nucleosomes are further packaged into

a 30nm chromatin fiber.

17
Super coiling of chromosomes
18
Morphological Features of Eukaryotic chromosomes
Eukaryotes possess multiple large linear
chromosomes contained in the cell's nucleus.
Each chromosome has one centromere, with one or
two arms projecting from the centromere.
The centromere (a term much preferred by the
geneticists) lies within a thinner segment of
chromosome also called the primary constriction.

Centromeres are found to contain specific DNA

sequences with special proteins bound to them,
forming a disc-shaped structure, called kinetochore.
19
 The chromosomes of most organisms contain only
one centromere and are known as monocentric
chromosomes.

 Some species have diffuse centromeres, with microtubules

attached along the length of the chromosome, which are called
holocentric chromosomes.

 In some chromosomal abnormality, chromosomes may break

and fuse with other, producing chromosomes:
- without centromere (acentric chromosomes) or
- with two centromeres (dicentric chromosomes).

 The centromere divides the chromosomes into two parts and

each part is called chromosome arm.
20
 The position of centromere varies form chromosome to
chromosome and it provides different shapes.
Based on the position of the centromere, chromosomes are
grouped into four types:

1. Metacentric chromosomes 2.Submetacentric

chromosomes
3. Acrocentric chromosomes 4. Telocentric
chromosomeas

Fig. The four types of chromosomes according to the position of

centromere.
21
1. Telocentric chromosomeas:- the
CENTROMERE
centromere is present at the end of
the chromosomes.
 they are rod-like chromosomes
which have the centromere on
the proximal end. LONG ARM

SHORT ARM 2.Acrocentric chromosomes:- the

CENTROMERE centromere is almost terminal.
• have one large & another very small arm.
• also rod-like in shape but these have the
centromere at one end and thus giving a very
LONG ARM
short arm and an exceptionally long arm.

22
 3. Sub-metacentric chromosomes:- here the centromere is not at
the middle position of the chromosomes.
• So the arms are unequal and it is ‘J or L-Shaped’ in appearance.

SHORT ARM

CENTROMERE TWO EQUAL ARMS

LONG ARM

CENTROMERE

4. Metacentric chromosomes:- the centromere is at the middle

position.
• So the arms are equal and it is ‘V-Shaped’ in appearance.
23
• The chromosomes besides having the primary
constriction or the centromere possess secondary
constriction at any point of the chromosome.

• Constant in their position and extent, these

constrictions are useful in identifying particular
chromosomes in a set.

• Secondary constrictions can be distinguished from

primary constriction or centromere, because
chromosome bends (or exhibits angular deviation) only
at the position of centromere during anaphase.

24
 Each edge of the chromosome has a polarity and
therefore, it prevents other chromosomal segments to be
fused with it.
 The chromosomal ends are known as the telomeres.
 If a chromosome breaks, the broken ends can fuse with
each other due to lack of telomeres.
 Telomeres are needed for chromosome stability.
The chromatin material of the
eukaryotic chromosomes
according to its percentage of
DNA, RNA & proteins &
consequently due to its, staining
property has been classified as
euchromatin & 25
 The euchromatin is the extended form of chromatin and it
forms the major portion of chromosomes.

 The euchromatin is less condensed and is genetically active

because its component DNA molecule synthesizes RNA
molecules only in the extended form of chromatin.

 The heterochromatin is a condensed intercoiled state of

chromatin, containing two to three times more DNA than
euchromatin.

 However, it is genetically inert as it does not direct synthesize

RNA (i.e., transcription) and protein and is often replicated at
a different time from the rest of the DNA.
26
• Recent molecular biological studies have identified three kinds
of heterochromatin's; namely constitutive, facultative and
condensed heterochromatin.

 The constitutive heterochromatin is present at all times and

in the nuclei of virtually all the cells of an organism.

 The facultative heterochromatin reflects the existence of a

regulatory device designed to adjust the "dosages" of certain
genes in the nucleus.

 The condensed heterochromatin is deeply staining tightly

coiled chromatin which does not resemble with two other
kinds of chromatin, has some specific role in gene regulation
and is found in many interphase nuclei.
27
 3.2 Cell Division and Cell cycle
• Cell Division is the process by which two daughter
cells are produced from one parent cell.

– A cell can divide into two cells, each of which can

also divide into two, and so on through time, to
create a population of cells called a clone.

• Excluding errors, all the cells within a clone are

genetically identical.

• Cell division is an integral part of the growth of multi-

cellular organisms, and it is also the basis of
reproduction. 28
 • Binary fission in prokaryotes, mitosis & meiosis in eukaryotes
are examples of cell divisions.

Cell division is very crucial for:

 Continuity of life = reproduction!
 Reproduction for unicellular organisms
 Growth
 Repair & renew of body

• A cell that is about to divide is called a mother cell, and the

products of division are called daughter cells.

•When prokaryotic cells divide, the contents of the mother cell

are more or less equally apportioned between the two daughter
cells. This process is called fission.

29
• The mother cell’s chromosome is duplicated prior to fission,
and copies of it are bequeathed to each of the daughter cells.

– Under optimal conditions, a prokaryote such as the intestinal

bacterium Escherichia coli divides every 20 to 30 minutes.

– At this rate, a single E. coli cell could form a clone of

approximately 250 cells—more than a quadrillion—in just
one day.

– In reality, of course, E. coli cells do not sustain this high rate

of division.

– As cells accumulate, the rate of division declines because

nutrients are exhausted and waste products pile up.
30
• The division of eukaryotic cells is a more elaborate
process than the division of prokaryotic cells.

• Typically many chromosomes must be duplicated,

and the duplicates must be distributed equally and
exactly to the daughter cells.

• Organelles-mitochondria, chloroplasts, endoplasmic

reticulum, Golgi complex, and so on—must also be
distributed to the daughter cells.

• Each time a eukaryotic cell divides, it goes through a

series of phases that collectively form the cell cycle.
31
 3.2.1. Cell Cycle
• Cell has a “life cycle”.

• The life of a cell begins with its formation by cell division

of its mother cell & formation of a daughter cell.

• Cell cycle is the cycle of cell growth, replication of the

genetic material, and nuclear and cytoplasmic division.

• Cell cycle is life of a cell from origin to division into 2

daughter cells.

 Three periods:
1. Preparation for initiation of chromosome replication,
2. Chromosome replication &
3. Cell division
32
 Actively dividing eukaryote cells pass through a series
of stages collectively known as the cell cycle which
includes:

1. G1 phase: Metabolic changes prepare the cell for division.

At a certain point - the restriction point - the cell is
committed to division and moves into the S phase.

2. S phase: DNA synthesis replicates the genetic material.

Each chromosome now consists of two sister chromatids.

3. G2 phase: Metabolic changes assemble the cytoplasmic

materials necessary for mitosis and cytokinesis.

4. M phase: A nuclear division (mitosis) followed by a cell

division (cytokinesis).
33
• The period between mitotic divisions (i.e. G1, S and
G2) is known as interphase.

fig. Cell cycle

• Variation in doubling times is usually a function of the

time spent in G1.
•When a cell differentiates, it leaves the cycle & enters a
phase G0.
34
 Cell cycle- Eukaryotic
M
√ Eukaryotic Cell cycle is complex b/c of the size Mitosis
& complex organization G2
√ Two major phases based on cellular activities: Gap 2
G1
Interphase & M phase (Mitosis) Gap 1

cell is formed from G0

S Resting
a mitotic division Synthesis

cell grows & matures cell grows & matures

to divide again to never divide again

G1, S, G2, M liver cells G0

body cells, brain nerve cells

blood cells,
stem cells 35
 3.2.2. Mitosis:
 Mitosis is one form of eukaryotic cell division that produces
two daughter cells with the same genetic component as the
parent cell. The second type of cell division in eukaryotes is
Meiosis.

 Chromosomes replicated during the S phase are divided in

such a way as to ensure that each daughter cell receives a copy
of every chromosome.

 In actively dividing animal cells, the whole process takes

about one hour.

 Mitosis, although a continuous process, is conventionally

divided into four stages.
36
 The four stages of Mitosis are:
1. Prophase,
2. Metaphas,
3. Anaphase and
4. Telophase

 The time spent in each

interval of one complete cell
cycle of a human cell in culture Overview of Mitosis
(Times vary according to cell
types and conditions). 37
1. Prophase
The chromatin condenses into chromosomes by dehydrating
and coiling and become visible under light microscope.

Identical sister chromatids, joined together by a centromere.

The nucleolus and nuclear envelope disappear, and the

centriole (animal cells only) divides into two centrosomes,
which move apart, creating the spindle.

This eventually fills the whole of the cell and is made of the
protein tubulin which forms spindle fibres a form of
microtubule.
2. Metaphase
 Centromeres attach to the spindle fibres.
 Chromosomes move to the equator of the cell.
38
3. Anaphase
 Centromeres of each chromosome divide & are pulled apart
by the contraction of the spindle fibres,
 Chromosomes move to opposite poles of the cell.

4. Telophase
 Chromosomes reach the poles,
 The spindle disappears
 The chromosomes return to their functional chromatin state by
rehydrating and uncoiling.

Then, a new nuclear envelope begins to form around the

chromosomes at each end of the cell, each with its own
nucleolus.

With mitosis now over, cytokinesis can begin.

39
• Cytokinesis: following mitosis, cytokinesis completes the
process of cell division.
• It is rather different in animal and plant cells:
1. Plant cells: In a plant cell, a 2. Animal cells: cytoplasm
new cell wall begins to form divides by the pinching of
across the centre of the cell, along the cell in the middle.
the line of the cell plate (or middle
lamella), which is made of pectin.

- A new cell wall is then laid down on both side of this, and new cell membranes
form inside that, leaving gaps through which the cytoplasm of one cell links to
that of its sister.  These gaps are known as plasmodesma.
40
 Significance of Mitosis:
• It maintain consistancey of the diploid number of
chromosomes of species.
• Mitosis results in the growth and development of
the organism.
• Repair and replacement of dead cells is ensured by
mitosis.
• It plays important role in the asexual reproduction.
• It is an extremely regural process and maintains the
qualitative & quantitative distribution of heredity
materials to daughter cell.
41
 3.3 Meiosis and Sexual Reproduction
 Meiosis is a nuclear division that reduces the number of
chromosomes in new cells to half the original number (diploid, 2N
→ haploid, N).

 This counteracts the fusion of cells in fertilization (haploid, N →

diploid, 2N).

 Crucially, it also produces unique gametes, which means that

sexual reproduction results in variation, the raw material for
evolution.

 Different from mitosis; in meiosis, the daughter cells

receive half the number of chromosomes as their mother
cells.
42
• Meiosis which is the only mechanism for the reduction of the
chromosome prior to fertilization & zygote formation, is a
lengthy process & the cycle completes in days/weeks.

• Whilst mitosis can occur anywhere in other cells, meiosis is

confined to the sex organs of sexually reproducing species.

• Meiosis allows a halving of the chromosomal compliment such

that each gamete receives one member of each homologous pair.

• Meiosis is a type of cell division, which divides the nucleus into

4 haploid daughter cells & the quantity of the genetic material is
reduced by half.

• As in mitosis, meiosis is followed by cytokinesis.

43
• In meiosis, haploid daughter cell is achieved by two
successive nuclear divisions namely:
1. Meiosis I: where homologous pairs of chromosomes are
separated and cells become haploid. This results in haploid
cells with chromosomes made up of two chromatids.
2. Meiosis II: where the sister chromatids of each
chromosome are separated (as in mitosis).

Meiosis

2N N Mitosis

Development
Adult Fertilization 2N Adult
Zygote
2N N
Gametes
DIPLOID HAPLOID
44
Meiosis-I and Meiosis-II

Meiosis I

Meiosis II

45
 Meiosis I:
• At the start of meiosis, each chromosome consists of two
sister chromatids, connected at the centromere.
• However, meiosis differs from mitosis, in that homologous
pairs of chromosomes come together at the start of the
meiosis, in a process called synapsis, forming a tetrad.
• During meiosis I, homologous chromosomes
pair (synapse), exchange material (cross
over), and separate (disjoin) from each other.

 Meiosis-I consists of 4 d/t stages:

1. Prophase-I
2. Metaphase-I
3. Anaphase-I Sister chromatids
4. Telophase-I 46
1. Prophase-I:
• Just as in mitosis, the nucleolus and nuclear membrane
disappear, and the centriole divides and forms the
spindle.

• As in mitosis, the chromosomes dehydrate and become thick

& visible, but with the chromosomes of each homologous pair
tangled together. There are thus four chromatids in each pair
of chromosomes.

• Prophase I is further divided into five phases namely Leptotene

(Leptonema), Zygotene (Zygonema), Pachytene (Pachynema),
Diplotene (Diplonema) and Diakinesis.

• During this stage, portions of each chromatid may break off and
reattach to an adjacent chromatid on the homologous chromosome.
47
• The places where this happens are called chiasma (pl.
chiasmata).

• The whole process is called crossing-over and it results in

unique combination of alleles on each chromatid.

• Crossing-over, which is an essential part of the genetic

recombination that takes place in meiosis, can only take place
between genes.

Fig. crossing-over

48
• Metaphase I
– Homologous pairs are still together and arranged on the
equator of the cell.

• Anaphase I
–The homologous pairs of chromosomes separate from each
other, as the spindle fibres pull one of each pair to opposite
ends of the cell.

–The random separation of the homologous chromosomes

that this produces is called independent assortment, and
results in 223 different gametes being possible from any one
human being – a couple could have 246 different children!

• Telophase -I
–Cytokinesis takes place; and each new cell is haploid,
containing one chromosome from each pair. 49
 Meiosis II (Gamete formation) is essentially the same as mitosis.
 In males, this follows immediately but in females, meiosis I takes
place before birth & meiosis II takes place only after the sperm has
fused with the egg (i.e. immediately before fertilisation).

The chromosomes do not replicate before this, second division, so

the gametes formed will have only half the DNA of a normal cell.
Meiosis-II has the following 4 stages:

1. Prophase II: DNA does not replicate but Centrioles/Asters move to

opposite poles & spindle fiber.
2. Metaphase II: Chromosomes align at the equatorial plate.
3. Anaphase II: Centromeres divide and sister chromatids migrate
separately to each pole.
4. Telophase II: Cell division is complete. Four haploid daughter cells are
formed.
50
Meiosis and Mitosis differences/comparison:
1. Meiosis produces daughter cells with half the number of
chromosomes of the parent cell (the cell goes from diploid to
haploid) but mitosis produces identical daughter cells.

2. Meiosis consists of two nuclear divisions, resulting in four

haploid daughter cells but mitosis consists of single division
resulting in two diploid daughter cells.

3. The cells produced by meiosis are not all alike while Mitosis
results in identical cells.
 In meiosis, each cell is unique and this variation is
produced by two processes during Meiosis I;
• independent segregation of chromosomes &
• crossing- over
51
3.4 Chromosomal Theory of Inheritance
• Thus far, we have considered how chromosomes are
transmitted during cell division and gamete formation.

• The chromosome theory of inheritance relates the behavior

of chromosomes to the Mendelian inheritance of traits.

• The theory was a major breakthrough in our understanding of

genetics because it established the framework for understanding
how chromosomes carry and transmit the genetic determinants
that govern the outcome of traits.

• This theory was dramatically unfolded as a result of

three lines of scientific inquiry, refer these
inquiries.
52
• In particular, early studies identified genes on the X
chromosome that govern eye color in fruit flies.

• This phenomenon, which is called X-linked

inheritance, confirmed the idea that genes are found
on chromosomes.

• In addition, X-linked inheritance showed us that not

all traits follow simple Mendelian rules.

• According to the chromosome theory of

inheritance, the inheritance patterns of traits can be
explained by the transmission patterns of
chromosomes during meiosis and fertilization.
53
• The theory is based on a few fundamental principles:
1. Chromosomes contain the genetic material that is transmitted
from parent to offspring and from cell to cell.

2. Chromosomes are replicated and passed along, generation

after generation, from parent to offspring & from cell to cell.

3. The nuclei of most eukaryotic cells contain chromosomes

that are found in homologous pairs—they are diploid.
– One member of each pair is inherited from the mother, the other
from the father.
– Gametes contain one set of chromosomes—they are haploid.

4. During the formation of haploid cells, different types of (non-

homologous) chromosomes segregate independently of each
other.
54
5. Each parent contributes one set of chromosomes to its
offspring.
– The maternal and paternal sets of homologous
chromosomes are functionally equivalent; each set
carries a full complement of genes.

55
 3.5. Sex determination and sex linkage
• A sex-determination system determines the development of
sexual characteristics in an organism.

• The sex of an organism usually depends on a very complicated

series of developmental changes under genetic & hormonal
control.

• However, often one or a few genes can determine which

pathway of development an organism takes.

• Those switch genes are located on the sex chromosomes, a

heteromorphic pair of chromosomes, when they exist.

• Heteromorphic chromosomes = chromosome pair with some

homology but differing in size, shape, or staining properties.
56
• Sex chromosomes are not the only determinants of an
organism’s sex.
• Ploidy level of an individual, Allelic interactions and
Environmental factors may control sex.
– For example, temperature determines the sex of some geckos.
– the sex of some marine worms and gastropods depends on the
substrate on which they land.
• In dioecious species, development as a male or a female is
achieved by the activation of alternative patterns of gene
expression.
•The trigger stimuli can be either environmental or genetic.
•In cases where genetic signals are involved, they can range from
different alleles at one particular locus to major chromosomal
differences.
57
 Chromosomal Sex Determination
• The chromosomes, which have no relation with the sex
and contain genes, which determine the somatic characters
of the individual, are known as autosomal chromosomes.

• The chromosomes which are responsible for the

determination of sex are called sex chromosomes and are
X and Y-chromosomes in humans.

• The sex chromosomes are highly specialized

chromosomes.

• Cytogeneticists divide the X and Y chromosomes into

homologous and differential regions.
58
• The sex chromosomes are an exception to the general rule that
homologous chromosomes which are identical in all appearance
& for certain portion of the segments they are not identical.

• The non-identical sex chromosomes part is called the

differential segment.

• The differential regions contain genes that have no counterparts

on the other sex chromosome.

• The homologous regions contain DNA sequences that are

substantially similar on both sex chromosomes.
• The differential segment is the cause for the sex-linked
inheritance.

59
• Basically, there are three types of chromosomal sex-
determining mechanisms:
A. Male Heterogametic
B. Female Heterogametic
C. Haplodiploidy [see the details below!!]

• The chromosomes themselves do not determine sex,

but the genes they carry do.

• In general, the genotype determines the type of gonad,

which then determines the phenotype of the organism
through male or female hormonal production.

60
 A. Male Heterogametic Mechanism:
• In this type of sex determination, the female has two X-
chromosomes & the male one X-chromosome.
• The sex of offspring is determined by the male gamete and
the heterogametic males may be of the following types:

I. XO-XX type:
– Female has two XX chromosomes & maleness is
determined by one chromosome only.

– Examples of organisms with such type include

cockroaches, grasshoppers, beetles, spiders and
nematodes.

– Male produces sperms with X or with out X chromosome.61

II. XX-XY type:
– In mammals, and certain insects (Drosophila) two X-
chromosomes with out Y-chromosome determine femaleness
and XY chromosomes determine maleness.
– So the sex of embryo depends on the kind of sperm.
– Y-linked genes determine maleness and are strong enough to
over come those on X-chromosomes.

B. Female Heterogametic Mechanism:

• The femaleness can be determined in either of the
following two mechanisms:-

I. ZO-ZZ type:
• the male has two Z-chromosomes & femaleness is determined
by having one Z-chromosome.
62
• The female produce two gametes, one with Z-chromosome &
the other with out Z-chromosome & the male produces one type
of gamete with Z-chromosome, hence, the eggs determine
femaleness.
• Example of such organisms include moths & butterflies.

II. ZW-ZZ type:

– Occurs in certain insects & vertebrates such as fish &
birds.
– Here, the female sex has one Z & one W-chromosome &
produce two type of eggs that carry the Z-chromosome or
W chromosome.
– The male produces one type of sperm that carry Z
chromosome.
– The egg determines femaleness.
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C. Haplodiploidy Mechanism:
– Also called the Honey Bee mechanism.
– Common in insects & hymenoptera (bees, wasps & ants).
– In this type, the fertilized egg becomes female & the
unfertilized egg develops into male.
– Sex is determined by ploidy level of the genome; monoploidy
(haploidy) maleness and diploidy femaleness.
– The development of male from unfertilized female egg is
called parthenogenesis.
– The male develops parthenogenetically and produces gametes
with out reduction of chromosomes (meiosis with out
reduction).

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 3.6. Sex-Linked Inheritance:
• Sex linked genes, which are also called X-linked genes, are genes
found in the differential region of X chromosome.
– They have no allele in Y chromosome.
• The genes that are found on the differential segment of Y-chromosomes
are known as holandric (Y-linked genes).
– They do not have allele in the X-chromosome.

• The Y-linked genes are inherited along with Y-chromosome & they are
phenotypically expressed only in male sex.
•
• The phenomenon of inheritance of Y-linked and X -linked genes is called
sex linkage or sex-linked inheritance.

• The genes residing in the homologous regions of X and Y-chromosomes

that are inherited like autosomal chromosomes are called XY-linked
genes.
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• In human beings, at
least four hundred loci
are known to be on the
X chromosome; only a
few are known to be
on the Y chromosome.

• Most of these genes (X-linked) are not involved in sexual

function, and most have no counterparts on the Y.
• The Y chromosome contains only a few dozen genes.
• Some of these genes have counterparts on the X, but some don’t.
• Y-linked are involved in male sexual function.
• Several other genes are specific for sperm production in males.

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• Inheritance of X or Y-linked genes is exemplified below:
A. Y- linked genes: Y-linked genes are inherited directly from male
to male.
– Example: excessive development of hairs on pinna of ear.
– Y-linked is used to refer to loci found only on the Y
chromosome, which control holandric traits (traits found only
in males).
B. X-linked genes:
– are represented twice in the female & once in male because
male has one X-chromosome.
– The recessive genes on X-chromosomes to be expressed
phenotypically in the female both alleles should be recessive
but in the male since there is only one allele (X-chromosome)
it is expressed whether it is dominant or recessive.

C. Loci found on both the X and Y chromosomes are called

pseudoautosomal. 67
 3.5.2. Sex-Limited Inheritance
• Some autosomal genes may only come to phenotypic expression
in one of the sexes because expression of such genes is limited by
the sex of their bearer and are called sex-limited genes.
• The phenotypic expression of such genes is limited by the sex of
their bearer.
• In humans, many of the secondary sexual traits such as the
development of beard in man & breast in woman are expressions
of sex-limited genes.
• Even though man & woman both have genes for beard and breast
development, due to sex hormones females lack beard & males
breast.
• Other example could be, bulls have genes for milk production,
which they transfer to their daughters, but they or their sons are
unable to express this trait.
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 3.5.3. Sex-Influenced Genes
• There are a number of  In man, boldness is sex influenced
known autosomal & sex- & summarized as follow:
linked genes whose Genotype Phenotypes
phenotypic expression will Man Women
be either act as a dominant BB Bald Bald
or as a recessive depending Bb Bald Non-bald
on the sex of organism. bb Non-bald Non-bald

Genotype Phenotypes

• In sheep, the genes for Male Female

HH Horn Horn
development of horn in
Hh Horn Hornless
male are dominant and in hh Hornless Hornless
female are recessive. 69
THE END
THANK YOU

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