MITOSIS & MEIOSIS

(Chapters 2 & 3 in Guyton and Hall are a good reference for all the following concepts)
Key Terms:

Ploidy: Is the number of homologous sets of chromosomes in a biological cell.

Diploid: The number of chromosomes in most cells of the body. This number is 46 in
humans. It is naturally twice the haploid number of 23 chromosomes contained in human
eggs (ova) and sperm.

Haploid: A set of chromosomes containing only one member of each chromosome pair.
The sperm and the egg are haploid and, in humans, have 23 chromosmes.

Euploidy: is the state of a cell or organism having an integral multiple of the haploid
number. For example, a human cell has 46 chromosomes, which is an integer multiple of
the haploid number, 23. A human with abnormal, but integral, multiples of this full set
(e.g. 69 chromosomes) would also be considered as euploid.

Aneuploidy: is the state of not having euploidy. In humans, examples include having a
single extra chromosome (such as Down’s Syndrome), or a missing chromosome (such as
Turner’s Syndrome). Aneuploidy is not normally considered -ploidy but -somy, such as
trisomy or monosomy.

Segregation: The Law of Segregation (Mendel) states that when any individual produces
gametes (sex cells), the copies of a gene separate, so that each gamete receives only one
copy. A gamete will receive one allele (alternative forms of gene for a specific
characteristic) or the other. The direct proof of this was later found when the process of
meiosis came to be known. In meiosis the paternal and maternal chromosomes get
separated and the alleles with the characters are segregated into two different gametes.

Chromosome: any of the thread-like structures in the nucleus of a cell that function in
the transmission of genetic information. Each consists of a double strand of DNA
attached to proteins called histones.

Chromatids: one of two identical, threadlike filaments of a chromosome. Chromatids are

produced by the self-replication of the chromosome during interphase and are held
together by a common centromere.

Chromatin: the material within a cell nucleus from which the chromosomes are formed.
In eukaryotes, there are two types of nuclear division;
Mitosis occurs in most cells as part of the cell cycle and its function is to repair damaged
cells and to replace worn out or dead cells. In mitosis, a diploid parent cell produces two
genetically-identical diploid daughter cells – the number of chromosomes remains
constant between generations (it is a non-reductive cell division). The cell cycle is
regulated by a control system that triggers and coordinates key events.

CELL DIVISION – Mitosis (see diagram on following page)

All eukaryotic cells go through a cell cycle, which consists of five parts;
1. G1 Phase; (first gap) the growth and the functioning of the cell before DNA
replication begins, this phase is the main part of the life of a cell. The cell grows
in volume as it produces various cell components including tRNA, mRNA,
ribsomes and enzymes
2. S Phase; (synthesis of DNA) the phase where the genome is replicated. There are
now 92 chromatids arranged as twin threads, two per chromosome. Each of these
chromatids becomes a new chromosome – identical to its parent – and each
contains its own set of genes, which is different from the sets on other
chromosomes.
3. G2 Phase; (second gap) the preparation for cell division phase where
mitochondria, other organelles and microtubules are replicated. The cell
synthesizes the spindle-fiber proteins needed to aid in the movement of
chromosomes.
4. M Phase; (mitotic phase) the phase where the microtubules are formed and bound
to the chromosomes and where the sister chromosomes pull apart.
 5. C Phase; (cytokinesis) the phase where the cytoplasm is divided and cell division
occurs to form two daughter cells. Not shown on diagram above, but occurs after
Telophase (the final stage of Mitosis) and is separate to Mitosis.

Interphase which consists of G1, S and G2 is the longest phase of the cell’s cycle. Cell
growth occurs during Interphase because the cell is metabolically active and able to
produce new proteins and DNA. During Interphase the chromosomes are not visible
under a light microscope. The stages of Mitosis are continuous but are classified as
prophase, metaphase, anaphase and telophase.

Prophase;
a. within the nucleus, the chromosomes become condensed and become visible by a
light microscope as sister chromatids. (Each chromosome was duplicated during
interphase into two sister chromosomes now joined at a centromere.) The nucleoli
disappear. The nuclear envelope breaks down which allows the chromosomes to
interact with the microtubules from the poles of the forming spindle.
b. In the cytoplasm, a network of microtubules (spindle apparatus) forms between
opposite ends of the cell. The placement of the spindle apparatus determines the
place where the cell will eventually divide. The microtubules form asters (star
shaped clusters) at each end of the cell and act as anchors.

Metaphase
The chromosomes are positioned in the middle of the cell. The microtubules from both
ends of the spindle attach to opposite sides of the centromere joining the pairs of sister
chromatids and begin to pull on them. At the end of metaphase the centromeres divide
freeing the sister chromatids so that in the next phase they can be drawn to opposite ends
of the spindle.
The push-pull forces become balanced when the chromosomes reach the midpoint of the
spindle.

Anaphase
The sister chromatids separate as the proteins holding the centromeres are degraded, and
the chromatids are free move to opposite ends of the cell. The ends of the cells are pushed
apart by the microtubules and the sister chromatids are forced to opposite ends by the
shortening of the microtubules.

Telophase
The chromatids are clustered at opposite ends of the cell and decondense/expand. The
mitotic apparatus breaks down, the nuclear envolope reforms in each cell and normal use
of the genes resumes. Once two nuclei are formed telophase and mitosis is complete.

Cytokinesis
A process separate to mitosis, which cuts the cytoplasm in to two daughter cells.
MEIOSIS (see diagram on following page)

Meiosis occurs only in germ cells as a prelude to sexual reproduction. In meiosis there
are two nuclear divisions which produce non-identical haploid cells (gametes or spores),
one ovum and short-lived three polar bodies in females and four sperm cells in males.
Meiosis consists of two separate stages, known as meiosis I and meiosis II. DNA
replication is suppressed between meiosis I & II.

Meiosis I:
Follows similar stages as mitosis, but has a couple of fundamental differences,
• ‘Independent assortment’- the arrangement of paternal and maternal
chromosomes along the midline of the cell is random, so each daughter cell will
potentially get a mix of paternal and maternal chromosomes.
• There is further redistribution of materials during ‘crossing-over’ – this occurs
when the homologous chromosomes pair up and swap sections of DNA. This is
also known as allelic exchange; the site of crossover and occurs on the short arms
(P arms) of the chromatids.
• The sister chromatids remain joined at their centromeres throughout meiosis I,
and get pulled to opposite ends of the cell as sister chromatids for the first cell
division. It is in meiosis II that the sister chromatids get split apart.

Meiosis II: has similar stages to mitosis, as it involves the sister chromatid strands
separating.

DIFFERENCES BETWEEN MITOSIS AND MEIOSIS

MITOSIS
Somatic Cells
1 nuclear division
Anaphase – strands of DNA (sisters)
separate
2 diploid daughter cells
Daughter cells genetically identical to each
other and identical to parent cell
No exchange of genes
Non-reductive
MEIOSIS
Gametes
2 nuclear divisions
Anaphase I – homologous pairs separate,
Anaphase II, sisters separate
Up to 4 haploid daughter cells
Daughter cells genetically different – due to
crossing over and independent assortment
Crossing over can occur
Reductive

• In Mitosis, in metaphase, homologues chromosomes don’t line up on the equator,

and spindle fibers from opposite poles attach to opposite sides of the centromere
• In meiosis I, homologous chromosomes line up on equator and spindle fibers
attach to centromere and pull both sister chromatids to one side
• Meiosis II is the same as mitosis, except the daughter cells have half the amount
of DNA
Chromosomal abnormalities
• Changes in the DNA sequence of a gene (mutations), which occur during the
DNA replication. The codon can be changed (one nucleotide is replaced by
another) to either read a missense mutation (a different A.A is inserted in to the
sequence) or it may result in a nonsense mutation(where a stop codon is put in
prematurely). Sometimes a nucleotide may be deleted or added which is known as
a frame shift mutation
Genetic Diseases
• Sickle cell anaemia; is the result of a single A.A

Numerical chromosomal abnormalities;

• Polyploidy; (the addition of an entire set of chromosomes) triploidy is an
example, where there is 3x the haploid number. This can be a result of a polar
body which didn’t fully die out
• Aneuploidy, which is caused by nondisjunction, i.e failure of either homologous
chromosomes or sister DNA strands to separate during meiosis.. which can result
in; trisomy – three copies of a chromosome (eg. Trisomy 21 Downs syndrome,
Trisomy 18 Edwards syndrome, Trisomy 13 Patau syndrome), and can have a
 trisomy of the X chromsome, which generally has no defects. (4 + copies of X,
which is a polysomy, has an increasing prevalence of problems)
• monosomy – one copy of a chromosome (eg. Turners syndrome, which is an X
chromosome monosomy)
• Chromosomal mosiacs, which is a trisomy but not in every cell, so some cells are
diploid, while others will have an extra chromsome

Structural Chromosomal Abnormalities

• Inversion of a portion of a chromosome (i.e it turns on its head), this is a problem
as DNA codes in one direction. Possible position effects, if inverted can’t cross-
over as not homologous.
• Transfer of genetic material between non-homologous chromosomes
• Errors in chromosomal segregation – if sister chromatids don’t separate and both
go to one end of the cell – this can be caused by a problem with DNA polymerase
which is the enzyme which unlocks the centromere
• Deletions; where a portion of a chromosome is lost. The severity is determined by
number of genes lost
• Duplications; where an extra copy of a portion of a chromosome is present – this
is usually less severe than duplication
• Translocation; which is the transfer of genetic material between non-homologous
chromosomes. Eg. Robertsonian translocation, which is where you loose the top
arm (P arm). This is common on chromosomes 13, 14, 15, 21 and 22. In this
situation the long arms of non-homologous chromosomes can fuse – but generally
the person is phenotypically normal. Philadelphia translocation, is a reciprocal
translocation between chromosomes 9 & 22
• Fragile Sites; sites in chromosomes where breaks or gaps develop when cells
from the individual are grown in folate-deficient conditions. E.g. Fragile X
Syndrome – site where it happens is the bottom of X chromosome, this is more
common in males