3.

1 Genes

The chromosomes

 Nucleus of each cell contains chromosomes.

 Each species is characterized by having a certain number of chromosomes in each cell, for
example number of chromosomes of each cell in humans in 46 except gametes, the
number of chromosomes in a sperm or an ovum is 23.

Haploid (n)

 Nucleus that contains only one of each type of chromosomes.

 It is produced by reduction division (meiosis).

Diploid (2n)

 Nucleus contains two of each type of chromosomes.

 Each two of each type of chromosomes are known as homologous chromosomes.
 Produced by mitosis.

Homologous chromosomes

Similar but not identical.

Similar in having the same position

of centromere, length, number, type

and sequence of genes on the same

loci (position)

Different as one is paternal (comes from the father in the nucleus of the male gamete) and one is
maternal (comes from the mother in the nucleus of the female gamete) also they may carry
different alleles.

1
DR. RASHA NADA
What is a gene?

A gene is a small section of DNA that contains the instructions for a specific molecule, usually a
protein. The purpose of genes is to store information. Each gene contains the information
required to build specific proteins needed in an organism.

A gene is a heritable factor that consists of a length of DNA and influences a

specific characteristic.

Gene: The basic unit of heredity or a heritable factor that controls a specific
characteristic.

Each gene occupies a specific position along the

DNA molecule and called locus.

A genome is the complete set of genes in a cell.

What is an allele?

An allele is an alternative form of a gene that is located at a specific position on a specific

chromosome

DNA in prokaryotic cells.

Short, circle (plasmid) and not associated with protein molecules.

They do not have chromosomes.

DNA in eukaryotic cells.

Longer, form a line (linear) and associated with a protein called histone.

2
DR. RASHA NADA
A karyogram shows the chromosomes of an organism in homologous
pair of decreasing length.

 In karyotyping, chromosomes are arranged in pairs according to their

size and structure with the largest at chromosome pair 1 and the
smallest at chromosome 22.
 Chromosomes are stained during mitosis (generally in metaphase) in
order to see the chromosomes, and a micrograph is taken of the
stained chromosomes
 This stained image of the chromosomes is called a Karyogram

Karyograms are done to determine gender and if there is any

abnormalities

Sex is determined by sex chromosomes and autosomes are

chromosomes that do not determine sex.

 The X and Y chromosome determine the sex of an individual

 The X chromosome is quite large in comparison to the Y
chromosome and has a centromere that is located near the centre or
middle of the chromosome
 The Y chromosome is relatively small with its centromere located
near the end of the chromosome
 If an individual has two X chromosomes they will be a female and if
they have an X and a Y chromosome they will be a male
 All other chromosomes are called autosomes and do not affect the
sex of an individual

3
DR. RASHA NADA
Meiosis
 Meiosis is the process of reduction division in which the number of
chromosomes per cell is halved.
 Meiosis results in the production of haploid gametes and is essential
for reproduction.
 Meiosis occurs in two stages; meiosis I and meiosis II.

One diploid nucleus divides by meiosis to produce four haploid nuclei.

 Meiosis is the process in which the diploid (2n) nucleus divides to

form four haploid (n) nuclei
 Meiosis has two divisions called Meiosis I and Meiosis II
 In the first division the diploid nucleus 2n, which consists of
homologous pairs of chromosomes (half maternal and half paternal
chromosomes), divides to form two haploid cells (n). These cells
after the first division are considered haploid because the
homologous pairs of the nucleus are separated into the two new cells.
 In meiosis II, the haploid chromosomes in the two cells (each has 2
chromatids because replication occurs before meiosis takes place)
divide to form four haploid cells each with one set of chromosomes
 This is called reduction division because the chromosome number is
halved

4
DR. RASHA NADA
∑ - DNA is replicated before meiosis so that all chromosomes consist
of two sister chromatids.

Chromosomes are replicated in the synthesis (S) phase during interphase

This means that each chromosome will have an attached identical copy
before meiosis occurs
These are called sister chromatids

5
DR. RASHA NADA
Stages of Meiosis

6
DR. RASHA NADA
∑ - The early stages of meiosis involve the pairing of homologous
chromosomes and crossing over followed by condensation.

 At the start of meiosis (prophase I), the replicated chromosomes

begin to condense and become visible.
 Homologous chromosomes pair up
 Crossing over occurs between non-sister chromatids. Crossing over
occurs when two of the non-sister chromatids exchange a segment of
their chromosomes with each other. Since the genes between the two
chromosomes are the same, but the alleles may differ between the
maternal and paternal chromosomes, a new combination of alleles
will be present when the chromosomes separate.
 These crossover points are random and lead to genetic variation in
the gametes

∑ - Orientation of pairs of homologous chromosomes prior to

separation is random.

 When homologues line up along the equatorial plate in metaphase I,

the orientation of each pair is random; meaning the maternal or
paternal homologue can orient towards either pole.
 The two homologous chromosomes in each bivalent are attached to a
different spindle fibre, randomly attaching them to either pole

7
DR. RASHA NADA
  The orientation of how one set of chromosomes lines up has no
effect on the other bivalents (i.e. The bivalent formed for
chromosome 1, does not affect how the bivalent for chromosome 2
will orient)
 This means the number of combinations that can occur in the gamete
is 2n(n=number of chromosome pairs).
 Therefore, in a female or male gamete, there can be 2^23 or
8,388,608 different possible combinations.
 Now when you consider there is the same number of possible
combinations in the other gamete that it will combine with to form a
zygote (random fertilization); the genetic possibilities are staggering.
 If one takes into consideration crossing over, which was explained
above, the genetic variation possibilities in the offspring are
immeasurable

∑ - Separation of pairs of homologous chromosomes in the first

division of meiosis halves the chromosome number.

 In meiosis I, homologous chromosomes split, but the centromeres do

not divide since the sister chromatids do not separate
 One chromosome from each pair separates and migrate towards
separate poles. This separation is called a disjunction.
 This halves the chromosome number of each cell and is therefore
called reduction division. The two new cells formed after the first
division are haploid (n)

8
DR. RASHA NADA
Interphase (interphase is not a part of meiosis)

Replication occurs before meiosis during interphase.

Prophase 1:
 The nuclear membrane begins to break down and disintegrate.
 The replicated chromosomes begin to condense and become visible.
 Homologous chromosomes synapse (pair up) to form bivalents or
tetrads.
 Crossing over occurs between non-sister chromatids.
 The crossover points between chromosomes are called chiasmata
(plural) and chiasma (singular).
 Spindle microtubules begin to form.
Metaphase 1
 The homologous chromosome pairs line up along the cell’s
equator (metaphase plate).
 Bivalents (homologous pairs) that come from the mother or the
father line up randomly on either side of the cell equator,
independently of the other homologous pairs.
Anaphase 1
 Spindle fibres attached to the homologous pairs, shorten and pull the
homologous pairs apart.
 The chiasmata also break down and separate.
 One chromosome of each pair move to opposite poles of the cell.

Telophase 1:
 Chromosomes begin to uncoil and nuclear envelope reforms.
 Spindle fibres and microtubules break down and disintegrate.
 Chromosome number reduces from 2n (diploid) to n (haploid);
however, each chromatid still has the replicated sister chromatid still
attached (not homologous pairs anymore).
 Cytokinesis occurs and the cell splits into two separate cells.
 No more replication is needed.

9
DR. RASHA NADA
Meiosis II

Prophase II:
 Chromosomes condense again and become visible.
 Spindle fibres again form.
 The nuclear membrane disintegrates again.

Metaphase II:

 Chromosomes line up along the equator.

 Centromeres attach to the spindle fibres from the centrosomes at
each pole.

 Resembles metaphase from mitosis.

Anaphase II:

Spindle fibres pull apart the centromeres and sister chromatids

are pulled towards the opposite poles.

At this point, the chromatids are considered chromosomes again.

Telophase II

 Chromosomes arrive at opposite poles.

 Nuclear envelope begins to develop around each of the four haploid
cells.
 Chromosomes begin to unwind to form chromatin.

10
DR. RASHA NADA
 11
DR. RASHA NADA