Topic 3.9 to 3.

14
Year: 12
Subject: Biology
Unit: 3
Learning Objective

 Content:
 Skill:
 Criteria for Success:
 What are we trying to Do, Say, Make or Write?
Reminders

Revise topic 2!
 3.9 (i) know that a locus is the location of genes on a chromosome

Chromosomes, genes and alleles

A gene is a heritable factor that controls or influences a specific characteristic, consisting of a length
of DNA occupying a particular position on a chromosome (locus)

http://learn.genetics.utah.edu/content/molecules
/gene
/
3.14 Understand the role of mitosis and the cell
cycle in producing genetically identical daughter
cells for growth and asexual reproduction

 Why do cells divide?

Why do cells divide?

Growth: Multicellular organisms increase their size by increasing

their number of cells through mitosis

Asexual Certain eukaryotic organisms may reproduce

asexually by mitosis (e.g. vegetative
reproduction: reproduction)

Tissue Repair: Damaged tissue can recover by replacing dead or

damaged cells

Embryonic A fertilized egg (zygote) will undergo

development: mitosis and differentiation in order to
develop into an embryo
The cell cycle is the series of events
through which cells pass to divide and create two
identical daughter cells.

http://highered.mheducati
on.com/sites/0072495855/
student_view0/chapter2/a
nimation__mitosis_and_cyt
okinesis.html

http://upload.wikimedia.org/wikipedia/commons/thumb/7/71/Diagram_of_mitosis.svg/800px-Diagram_of_mitosis.svg.png
Mitosis is division of the nucleus into two genetically identical daughter nuclei.

Get the terminology right centrioles organise

spindle microtubules

centromere is the part of a

chromosome that links sister Spindle
chromatids microtubules (also
referred to as
spindle fibres)

In animal cells two centrioles are held by a protein mass

referred to as a centrosome

Sister chromatids are duplicated chromosomes
attached by a centromere
After anaphase when the sister chromatids separate
they should then be referred to as chromosomes
It is easy to misuse the terms chromatid and chromosome. It is
even easier to confuse the terms centromere, centriole and
centrosome due to their similar spelling. Keep the terms clear
in your mind to avoid losing marks.

http://commons.wikimedia.org/wiki/File:Chromosome.svg
http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/File:Mitosis_cells_sequence.svg
 Interphase consists of the parts of the cell cycle that
don’t involve cell division.

G1 (Gap 1) S (Synthesis)
• Increase the volume of cytoplasm • DNA replicated
• Organelles produced
• Proteins synthesized

n.b. cells can also be said to be in G0

(Gap 0). This is a ‘resting’ phase where
the cell has left the cycle and has
stopped dividing. Cells in G0 still carry G2 (Gap 2)
out all their normal functions.
• Increase the volume of cytoplasm
• Organelles produced
• Proteins synthesized
http://gardeningstudio.com/wp-content/uploads/the-cell-cycle-diagram-318.jpg
Prophase People
Metaphase Meet
Anaphase And
Telophase Talk
 Prophase DNA supercoils* chromatin
condenses and becomes sister
chromatids, which are visible under
a light microscope

The centrosomes
move to opposite
poles of the cell
and spindle fibres
begin to form
between them The nuclear
membrane
is broken
down and
disappears

http://www.microscopy-uk.org.uk/mag/artnov04macro/jronionroot.html
http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/File:Mitosis_cells_sequence.svg
Metaphase

Spindle fibres from each

of the two centrosomes
attach to the centromere
of each pair of sister
chromatids

Contraction of the
microtubule spindle fibres
cause the sister
chromatids to line up
along the centre of the
cell. http://www.microscopy-uk.org.uk/mag/artnov04macro/
jronionroot.html
http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/
File:Mitosis_cells_sequence.svg
Anaphase Continued contraction of the
microtubule spindle fibres cause the
separation of the sister chromatids

The chromatids are now referred to

as chromosomes

Chromosomes
move to the
opposite poles
of the cell

http://www.microscopy-uk.org.uk
/mag/artnov04macro/jronionroot.html
http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/File:Mitosis_cells_sequence.svg
Telophase The chromosomes uncoil
de-condense to chromatin
(and are no longer visible
Chromosomes arrive under a light microscope).
at the poles.

Microtubule
spindle fibers
disappear

New nuclear membranes

reform around each set of Now cytokinesis
chromosomes begins! http://www.microscopy-uk.org.uk/mag/artnov04macro/jronionroot.html
http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/File:Mitosis_cells_sequence.svg
 mitosis is the division of the nucleus whereas
cytokinesis is the division of the cytoplasm
and hence the cell

The division of the cell into two daughter cells (cytokinesis) occurs concurrently
with telophase.

Though mitosis is similar for animal and plant cells cytokinesis is very
different.

http://glencoe.mheducation.com
http://www.haroldsmithlab.com/images/pg_HeLa_cell_division.jpg
/sites/9834092339/student_view0/chapter10/animati
on_-_ http://wwwprod.biochem.wisc.edu/biochem/faculty/bednarek/images/figure_color.gif
cytokinesis.html http://commons.wikimedia.org/wiki/Mitosis#mediaviewer/File:Mitosis_cells_sequence.svg
3.10 Understand the role of meiosis in ensuring genetic variation through the production of non-identical
gametes as a consequence of independent assortment of chromosomes in metaphase I and crossing over of
alleles between chromatids in prophase I

Names of the stages of prophase are not required.

Meosis is a reduction division of the nucleus to form haploid gametes

One diploid (2N) body cells contain a Chromosomes are replicated to

homologous pair of each chromosome (except form sister chromatids
for sex cells)

Four haploid (N) gametes

contain one of each chromosome

First
division
of the
nucleus

https://www.youtube.com/watch?v=MNq015d03MU
Second division of the
nucleus
Edited from: https://commons.wikimedia.org/wiki/File:Diagram_of_meiosis.svg
 Mitosis
One division
Diploid cells produced
No crossing-over in prophase
No chiasmata formation
Homologous pairs do not associate and line
up at the equator in metaphase
Sister chromatids separate in anaphase
Meiosis
Two divisions
Haploid gametes produced
Crossing-over in prophase I
Chiasmata form
Homologous pairs associate as bivalents and
lined up at the equator in metaphase I
Homologous pairs separate in anaphase I
Sister chromatids separate in anaphase II
Interphase
In the S-phase of the interphase before meiosis
begins, DNA replication takes place.

Chromosomes are replicated and these copies

are attached to each other at the centromere.

The attached chromosome and its copy are

known as sister chromatids.

Following S-phase, further growth and

preparation take place for meiosis.
 The homologous
Prophase I chromosomes associate
with each other to form
bivalents (synapsis).

DNA supercoils and chromosomes condense

nuclear membrane dissolves

centrioles migrate to the poles of

the cell.

Crossing-over between non-sister chromatids

can take place. This results in recombination of
alleles and is a source of genetic variation in
gametes.
Edited from: http://www.slideshare.net/gurustip/meiosis-ahl http://www2.sunysuffolk.edu/gambier/micrographs/lateprophase3.htm
 Metaphase I
The bivalents line up at the equator.

Random orientation occurs - each bivalent

aligns independently and hence the
daughter nuclei get a different mix of
chromosomes.

This is a significant source of genetic

variation: there are 2n possible orientations
in metaphase I and II. That is 223 in humans
– or 8,388,068 different combinations in
gametes!

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Anaphase I
Homologous pairs are separated and pulled
to opposing poles.

Spindle fibres contract.

This is the reduction division –

the bivalent is split and half the
chromosomes move towards each
pole.

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Telophase I
The nuclei are now haploid (N) not diploid (2N): they
each contain one pair of sister chromatids for each of
the species’ chromosomes.

The cytoplasm begins to divide by cytokinesis.

New nuclei form

Chromosomes decondense

n.b. If crossing-over and recombination has

occurred then the sister chromatids will not
be exact copies.

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Prophase II

Nuclear membranes dissolves

Chromosomes, consisting of two sister
chromatids, condense

No crossing-over occurs.

centrioles move to opposite poles

(perpendicular to previous

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Metaphase II

Spindle fibres form and attach at the

centromeres.

Pairs of sister chromatids

align at the equator.

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Anaphase II
The sister chromatids are separated. The
chromatids (now called chromosomes are
pulled to opposing poles.

Spindle fibres contract and the

centromeres are split.

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

 Telophase II
Four new haploid nuclei are formed.

Nuclear membrane reforms

Chromosomes decondense

Cytokinesis begins, dividing the cells.

The end result of meiosis is four haploid gamete

cells.

Fertilisation of these haploid gametes will

produce a diploid zygote.

Edited from: http://www.slideshare.net/gurustip/meiosis-ahl courtesy of: http://www.flickr.com/carolinabio

Which phase of meiosis is shown? Why?

A. Interphase

B. Prophase I

C. Metaphase I

D. Metaphase II

Reason:
Which phase of meiosis is shown? Why?

A. Interphase

B. Prophase I

C. Metaphase I

D. Metaphase II

Reason:
Which phase of meiosis is shown? Why?

A. Interphase

B. Prophase I

C. Metaphase I

D. Metaphase II

Reason:

34
Crossing over and random orientation promotes genetic variation.

Prophase I Metaphase I Metaphase II

Crossing-over between non-sister Random orientation of the homologous chromosomes means there are
chromatids results in 2n possible orientations in metaphase I and II. That is 223 in humans –
recombination of alleles or 8,388,068 different combinations in gametes!

Because both crossing-over and random orientation occur during meiosis the result is is effectively infinite
genetic variation in the haploid gamete.
n.b. for a new organism to arise sexually meiosis occurs in both parents further increasing the genetic
variation
Random Orientation vs Independent Assortment
“The presence of an allele of one of the genes in a gamete has NO
influence over which allele of another gene is present.”

Random Orientation refers to the behaviour of

homologous pairs of chromosomes (metaphase I) or
pairs of sister chromatids (metaphase II) in meiosis.
Independent assortment refers to the behaviour of
alleles of unlinked genes as a result of gamete
production (meiosis).

Due to random orientation of the chromosomes

in metaphase I, the alleles of these unlinked genes
have become independently assorted
into the gametes.
 Fusion of gametes from different parents promotes genetic variation.

For a new organism to arise sexually meiosis must occur in both parents followed by fusion of
the gametes (fertilisation)

Meiosis in a single individual produces near infinite variation, but

genetic variation is further increased by:
• Meiosis occurs in two individuals
• Alleles from two organisms combine in novel ways

Increased genetic variation produces a more resilient population that is more likely to
withstand environmental change such as a disease. Genetic variation is essential for
successful change by evolution.

http://www.sciencemuseum.org.uk/~/media/RWSCIM/WhoAmI/FindOutMore/What%20is%20fertilisation.jpg
A diploid nucleus has two of each chromosome (2N). Therefore diploid nuclei have two copies of
every gene, apart from the genes on the sex chromosomes. For example the Diploid nuclei in humans
contain 46 chromosomes.

The fertilised egg cell (Zygote)

therefore is a diploid (2N) cell
containing two of each chromosome.

Gametes are the sex cells that fuse

together during sexual reproduction. A haploid nucleus has one of
Gametes have haploid nuclei, so in each chromosome. The number of
humans both egg and sperm cells contain chromosomes possessed by a
23 chromosomes. species is know as the N number,
for example humans have 23
different chromosomes.
n.b. Diploid nuclei are less susceptible to genetic diseases: have two copies
of a gene means organisms are more likely to possess at least one healthy
copy.
http://www.biologycorner.com/resources/diploid_life_cycle.gif
Many eukaryotes reproduce by sexual reproduction. Even organisms capable of asexual reproduction
will reproduce sexually as well. Sexual reproduction involves fertilisation, the fusion of gametes (sex cells),
one from each parent.

Because fertilisation involves

the fusion of gametes the
number of chromosomes in the
next generation is doubled.

To compensate for the

chromosome doubling
during fertilisation
gametes undergo meiosis,
To prevent a doubling of which halves the
chromosomes in each chromosomes present in
generation a halving gametes compared to the
mechanism is needed during parent.
the life cycle.

http://www.biologycorner.com/resources/diploid_life_cycle.gif
3.9(ii) Understand the linkage of genes on a chromosome

 Unlinked genes:
The genes are on different chromosomes and follow the Mendelian rules of
inheritance (because of random orientation / assortment)

 Linked genes:
The genes are on the same chromosome and, because of crossing-over,
recombination can happen
Two (or more) genes with loci on the same chromosome (linked) are more likely
to be inherited together. They will be inherited seperately if crossing-over
happens between the two. The closer they are on a chromsome, the less likely it
is to happen.
Monohybrid pattern (see 2.15): if NO recombination / crossing-over happens!
Mendel’s Law of Independent Assortment
“The presence of an allele of one of the genes in a gamete has no influence over
which allele of another gene is present.”
This only holds true for unlinked
genes (genes on different
chromosomes).
Dihybrid Crosses
In this example of Lathyrus odoratus (sweet pea), we consider two traits: pea colour
and pea surface, on DIFFERENT chromsomes (unlinked)

Phenotype: Smooth, yellow Smooth, yellow

F0 Heterozygous at both loci Heterozygous at both loci
Genotype: SsYy SsYy
Punnet Grid: gametes SY Sy sY sy
SY SSYY SSYy SsYY SsYy
Key to alleles:
Y = yellow Sy SSYy SSyy SsYy Ssyy
y = green
sY SsYY SsYy ssYY ssYy
S = smooth
s = rough sy SsYy Ssyy ssYy ssyy

F1 Phenotypes: 9 Smooth, yellow : 3 Smooth, green : 3 Rough, yellow : 1 Rough, green

Recombination of alleles occurs as a result of crossing-over between non-sister chromatids.
Exchange of alleles gives new genotypes of gametes.
Key to alleles:
P = purple p = white
L = long l = short

Possible gametes:
Test individual:
p l

Heterozygous individual:

P L

p l

Recombinants:
Diploid cell
Heterozygous at both loci Crossing Over Sister chromatids are separated P l
Prophase I in anaphase II. Recombined
Alleles are exchanged gametes are produced.
p L
Crossing-over occurs occasionally. It is more likely to happen between linked
genes which are further apart.
Recombination
Crossing-over occurs occasionally. It is more likely to happen between linked genes which
are further apart.

Normal gametes Recombinant gametes

(majority) (small number)

Possible
Gametes P L p l P l p L
All p l PpLl ppll Ppll ppLl

Purple; long White, short Purple; short White, long

Review question:
Plants which are heterozygous at both loci are test-crossed. A small number of
purple-short and white-long individuals have appeared in the offspring.
Explain what has happened.
Crossing-Over

Crossing over leads to more variation in gametes.

 3.11 Understand how mammalian gametes are specialised for their functions
(including the acrosome in sperm and the zona pellucida in the egg cell)

Structure of the mature sperm

Contains enzymes which can digest the zona pellucida

Haploid (n), contains 23 chromosomes to be passed from father to

child

Possesses helical mitochondria which provide the ATP (energy) for

swimming (and other processes)

Contains protein fibres and microtubules to strengthen and allow

the tail to move respectively.
 Structure of the mature egg

Provides nutrients to support the early

development of fertilised egg

Consists of a glycoprotein that protects the egg

and prevents the entry of sperm.

Not required – will break down

Haploid (n) contains 23 chromosomes to be passed

from mother to child

Contains nutrients to support the early

Cortical
development of fertilised egg
granules
Makes the zona pellucida impenetrable to sperm
(after fertilisation) to prevent polyspermy*

Diagram from: http://www.slideshare.net/gurustip/reproduction-ahl-1062218

3.12 Know the process of fertilisation in mammals, including the acrosome reaction,
the cortical reaction and the fusion of nuclei

Fertilization
1. The sperm pushes through the follicular cells
and binds to receptors in the zona pellucida

2. Enzymes are released from the acrosome and

digest the glycoprotein based zona pellucida

3. The membranes of the sperm and the ova fuse

this stimulates:

a. By exocytosis cortical granules (vesicles)

release proteases (enzymes) into the zona
pellucida causing the zona pellucida to ‘harden’
and become inpenetrable to (subsequent)
sperm, preventing polyspermy.

b. An influx of Ca2+ into the ova which prompts the

completion of meiosis II
4. The nucleus of the sperm cell is deposited into the ova’s cytoplasm and subsequently
fuses with the ova’s nucleus forming a diploid zygote (cell).
https://commons.wikimedia.org/wiki/File:Acrosome_reaction_diagram_en.svg
3.13 Know the process of fertilisation in flowering plants,
starting with the growth of a pollen tube and ending with
the fusion of nuclei
Past paper questions

 Give two differences, other than size, between the structure of a sperm cell
and the structure of a female gamete.

 Female gametes and sperm cells are formed by meiosis.A zygote is formed
when a sperm cell fertilises a female gamete.The zygote divides by mitosis.
 (i) Compare mitosis with meiosis.
 (ii) Describe the process of fertilisation in mammals.
Past paper questions
Independent Learning

 Task:
 Answer slides 31, 32, 33
 In your OWN words, answer review question on slide 45
 Answer past exam questions on slides 54, 55
 Complete the dihybrid inheritance document in resources
 Deadline: 24/2/20
 Where to submit: Powerschool
 Format: Word, PPT, PDF, photo
What did we learn?

 Content:
 Skill:
 Criteria for Success:
 What can we now Do, Say, Make or Write?
Plenary
What’s Next?

 Homework from this lesson is due:

 Feedback will be given on that homework on:
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