3.

2 Chromosomes
Essential idea: Chromosomes carry genes
in a linear sequence that is shared by
members of a species.
The asian rice (Oryza sativa) genome can be seen illustrated above. Rice
possesses up 63,000 genes divided up between 12 chromosomes.
Below is a map of part of the first chromosome showing the gene loci present on it. Although different
varieties (estimated 40,000 worldwide) will possess different alleles for genes, all individuals will share the
same twelve chromosomes and the alleles of each variety will occur at the same position on same
chromosome, i.e. at the same gene loci.

By Chris Paine
http://www.cambia.org/daisy/RiceGenome/2959/version/default/part/Ima
geData/data/Rice%20chromosomes.png https://bioknowledgy.weebly.com/
http://rgp.dna.affrc.go.jp/E/publicdata/naturegenetics/chr01.gif
Understandings
Statement Guidance
3.2.U1 Prokaryotes have one chromosome consisting of a
circular DNA molecule.
3.2.U2 Some prokaryotes also have plasmids but eukaryotes
do not.
3.2.U3 Eukaryote chromosomes are linear DNA molecules
associated with histone proteins.
3.2.U4 In a eukaryote species there are different chromosomes
that carry different genes.
3.2.U5 Homologous chromosomes carry the same sequence
of genes but not necessarily the same alleles of those
genes.
3.2.U6 Diploid nuclei have pairs of homologous chromosomes.
3.2.U7 Haploid nuclei have one chromosome of each pair. The two DNA molecules formed by DNA
replication prior to cell division are considered to
be sister chromatids until the splitting of the
centromere at the start of anaphase. After this,
they are individual chromosomes.
3.2.U8 The number of chromosomes is a characteristic feature
of members of a species.
3.2.U9 A karyogram shows the chromosomes of an organism The terms karyotype and karyogram have different
in homologous pairs of decreasing length. meanings. Karyotype is a property of a cell - the
number and type of chromosomes present in the
nucleus, not a photograph or diagram of them.
3.2.U10 Sex is determined by sex chromosomes and
autosomes are chromosomes that do not determine
sex.
Applications and Skills
Statement Guidance
3.2.A1 Cairns’ technique for measuring the length of DNA
molecules by autoradiography.
3.2.A2 Comparison of genome size in T2 phage,Escherichia Genome size is the total length of DNA in an
coli, Drosophila melanogaster, Homo sapiens and Paris organism. The examples of genome and
japonica. chromosome number have been selected to allow
points of interest to be raised.
3.2.A3 Comparison of diploid chromosome numbers of Homo
sapiens, Pan troglodytes, Canis familiaris, Oryza
sativa, Parascaris equorum.
3.2.A4 Use of karyograms to deduce sex and diagnose Down
syndrome in humans.
3.2.S1 Use of databases to identify the locus of a human gene
and its polypeptide product.

https://www.youtube.com/watch?v=KaxSDryqB6M
bozeman chromosomal inheritance
https://www.youtube.com/watch?v=tsVHWbXqum8
bozeman what are chromosomes
https://www.youtube.com/watch?v=zglQ2Ildw4I bozeman
diploid vs haploid
Chromosomes in eukaryotes and prokaryotes are
different
Comparison item Prokaryote Eukaryote

Single/multiple/plasmid

Circular / linear

composition

Location

Division /copies
3.2. U1. Prokaryotes have one chromosome consisting of a circular DNA
molecule.

https://classconnection.s3.amazonaws.com/730/flashcards/127
6730/jpg/cell_types1330806303645.jpg
3.2.U2 Some prokaryotes also have plasmids but eukaryotes do not.

Prokaryote bacteria may have plasmids,

Features of Plasmids: but these structures are not found in
• Naked DNA - not associated with histone eukaryotes.*
proteins
• Small circular rings of DNA
• Not responsible for normal life processes –
these are controlled by the nucleoid chromosome
• Commonly contain survival characteristics,
e.g. antibiotic resistance
• Can be passed between prokaryotes
• Can be incorporated into the nucleoid chromosome

n.b. Plasmid characteristics mean that Scientists have

found them useful in genetic engineering. Plasmids can
be used to transfer genes into bacteria.

*Scientists have found plasmids in archea and eukaryota, but very rarely.
https://commons.wikimedia.org/wiki/File:Plasmid_%28english%29.svg
https://en.wikipedia.org/wiki/File:PBR322_plasmid_showing_restriction_sites_and_resistance_genes.jpg
 Chromosomes in eukaryotes and
prokaryotes are different
PROKARYOTES EUKARYOTES
single chromosome plus plasmids many chromosomes
circular chromosome linear chromosomes
made only of DNA made of chromatin, a nucleoprotein
(DNA coiled around histone
proteins)
found in cytoplasm (in a region called found in a nucleus
nucleoid)
copies its chromosome and divides copies chromosomes, then the cell
immediately afterwards grows, then goes through mitosis to
organise chromosomes in two equal
groups
Review
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/m
olecules/gene/
3.2.U3 Eukaryote chromosomes are linear DNA molecules associated with histone proteins.

Linear strands of DNA held in a helix

Eukaryotic chromosomes may be up to

85mm in length. To fit such a length of DNA
into a nucleus with a diameter of 10 μm it
has to be coiled in a predictable fashion
that still allows for processes, such as
replication and protein synthesis, to occur.

Nucleosomes are formed by wrapping DNA

around histone proteins

n.b. Prokaryotic DNA is, like eukaryotic DNA, supercoiled, but

differently: Prokaryotic DNA maybe associated with proteins,
but it is not organised by histones and is therefore
sometimes referred as being ‘naked’.

http://en.wikipedia.org/wiki/File:DNA_to_Chromatin_Formation.jpg
3.2.U4 In a eukaryote species there are different
chromosomes that carry different genes.

Eukaryotes possess multiple

chromosomes. For example humans have
twenty three pairs.
A species’ chromosomes vary in terms of:
• Length – the number of base pairs in the DNA
molecule
• Position of the centromere
• Genes occur at a specific locus (location), i.e. it is
always found at the same position on the same
chromosome (the locus and genes possessed vary
between species)

https://public.ornl.gov/site/gallery/originals/
3.2.U5 Homologous chromosomes carry the same sequence of genes but not necessarily the same
alleles of those genes.

Autosomes =
chromosomes that are
not sex chromosomes
3.2 U6 Diploid nuclei have pairs of homologous chromosomes.

• Diploid nuclei have two copies

of each type of chromosome.
EXCEPT ion…?
One chromosome comes from
the mother and one from the
father.
• Haploid gametes (sperm and egg)
fuse during sexual reproduction
which produces zygote with a
diploid nucleus
• This cell will then divide by
mitosis to produce numerous
cells, all with a diploid nucleus
• Each nucleus has two copies of
each gene, except the sex Common wheat has 6 sets of its chromosomes! (hexaploid)
chromosomes Cultivated tobacco has 4 sets of chromosomes (tetraploid)
 3.2.A3 Comparison
Humans (Homo sapiens) 46 of diploid
chromosome
numbers of Homo
sapiens, Pan
troglodytes, Canis
familiaris, Oryza
sativa, Parascaris
equorum.

46 is the number of diploid

chromosomes in each human cell.

https://upload.wikimedia.org/wikipedia/commons/f/f6/Usain_Bolt_100_m_Daegu_2011.jpg
3.2.A3 Comparison of diploid chromosome numbers of Homo sapiens, Pan troglodytes, Canis
familiaris, Oryza sativa, Parascaris equorum.

Asian rice (Oryza sativa)

Equine roundworm (Parascaris equorum
http://pic20.picturetrail.com/VOL176/4853602/20795519/357799225.j
How many diploid
chromosomes does each
species possess?
https://commons.wikimedia.org/wiki/File:Hinohikari.jpg

Domestic Dog (Canis familiaris) Chimpanzee (Pan troglodytes)

https://commons.wikimedia.org/wiki/File:Dog_%28Canis_lupus_fa https://commons.wikimedia.org/wiki/File:Pan_troglodytes_Sweetwaters_Ch
miliaris%29_%281%29.jpg panzee_Sanctuary,_Kenya.jpg
3.2.A3 Comparison of diploid chromosome numbers of Homo sapiens, Pan troglodytes, Canis
familiaris, Oryza sativa, Parascaris equorum.

24 2
Asian rice (Oryza sativa) Equine roundworm (Parascaris equorum
http://pic20.picturetrail.com/VOL176/4853602/20795519/357799225.j
How many diploid
chromosomes does each
species possess?
https://commons.wikimedia.org/wiki/File:Hinohikari.jpg

78
Domestic Dog (Canis familiaris) 48 Chimpanzee (Pan troglodytes)
https://commons.wikimedia.org/wiki/File:Dog_%28Canis_lupus_fa https://commons.wikimedia.org/wiki/File:Pan_troglodytes_Sweetwaters_Ch
miliaris%29_%281%29.jpg panzee_Sanctuary,_Kenya.jpg
3.2.U6 Diploid nuclei have pairs of homologous chromosomes. AND 3.2.U7 Haploid nuclei have one
chromosome of each pair.

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 A haploid nucleus has
reproduction. Gametes have one of each chromosome.
haploid nuclei, so in humans both The number of
egg and sperm cells contain 23 chromosomes possessed by
chromosomes. a species is know as the N
number, for example
n.b. Diploid nuclei are less susceptible to genetic diseases: have humans have 23 different
two copies of a gene means organisms are more likely to chromosomes.
possess at least one healthy copy.
http://www.biologycorner.com/resources/diploid_life_cycle.gif
3.2 U.7 Haploid nuclei have one chromosome of each pair. [The two DNA molecules
formed by DNA replication prior to cell division are considered to be sister chromatids
until the splitting of the centromere at the start of anaphase. After this, they are individual
chromosomes.]

• Haploid nuclei have one copy of each chromosome or one full set of
the chromosomes in that particular species e.g. Human 23
chromosomes
• These are called gametes
• Human sperm and eggs each contain 23 chromosomes

https://classconnection.s3.amazonaws.com/116215/flashcards/771420/png/meiosis-1.png
3.2 U.8 The number of chromosomes is a characteristic feature of members of a species.

• It does NOT indicate how complicated an organism

might be
• Organisms with different numbers of chromosomes
are more unlikely to interbreed
• Constant for each cell in the body (except sex cells
which only have half sets).
• Constant throughout the life of an individual (you
don’t lose or gain chromosomes)
• Constant for all individuals of a species
• Chromosome number tends to remain unchanged
over millions of years of evolution; however,
sometimes through evolution chromosomes can
fuse together or split to change the number of
chromosomes an organism contains
• During human evolution, two ancestral ape
chromosomes fused to produce human
chromosome 2
 Genome size is the total
3.2.A2 Comparison of number of DNA base
genome size in T2 pairs in one copy of a
phage, Escherichia haploid genome.
coli, Drosophila
melanogaster, Homo
sapiens and Paris
japonica.
Humans (Homo sapiens)
3.2 billion base pairs

https://upload.wikimedia.org/wikipedia/commons/f/f6/Usain_Bolt_100_m_Daegu_2011.jpg
3.2.A2 Comparison of genome size in T2 phage
T2 phage, Escherichia coli, Drosophila
melanogaster, Homo sapiens and Paris
japonica.
Escherichia coli
Canopy plant (Paris japonica)

https://s-media-cache-ak0.pinimg.com/736x/2d/0e/3e/2d0e3ea8d
df652f25a5f2c3b1050af79.jpg

n.b. T2 phage (orange) is a virus that attacks E. Coli

bacterium (green and white).

What is the
Fruit fly (Drosophila melanogaster)
genome size of
https://commons.wikimedia.org/wiki/File:Dr
each species?
osophila_melanogaster_-_side_%28aka%29.j
pg

https://commons.wikimedia.org/wiki/File:Paris_japonica_Kinugasasou_in_Hakusan_2003_7_27.jpg
 3.2.A2 Comparison of genome size in T2
phage, Escherichia coli, Drosophila T2 phage
melanogaster, Homo sapiens and Paris 164 thousand base pairs
japonica.

Canopy plant (Paris japonica) Escherichia coli

150 billion base pairs 4.6 million base pairs

https://s-media-cache-ak0.pinimg.com/736x/2d/0e/3e/2d0e3ea8d
df652f25a5f2c3b1050af79.jpg

n.b. T2 phage (orange) is a virus that attacks E. Coli

bacterium (green and white).

What is the
Fruit fly (Drosophila melanogaster) genome size of
130 million base pairs
https://commons.wikimedia.org/wiki/File:Dr
osophila_melanogaster_-_side_%28aka%29.j
each species?
pg

https://commons.wikimedia.org/wiki/File:Paris_japonica_Kinugasasou_in_Hakusan_2003_7_27.jpg
3.2.A1 Cairns’ technique for measuring the length of DNA molecules by autoradiography. AND Nature of
Science: Developments in research follow improvements in techniques - autoradiography was used to
establish the length of DNA molecules in chromosomes. (1.8)

John Cairns produced images of DNA molecules from Escherichia coli (E.coli)

• Preparation:
• Labelling the DNA:
E. Coli was grown with thymidine containing a
radioactive isotope of hydrogen (3H-T) (the
DNA was labelled).
• Exposing the DNA:
The E. Coli cells were broken open by
enzymes to release the cell contents
• Immersion to expose The cell contents were
applied to a photographic emulsion and placed in
the dark (for two months)

n.b. The insights and improvements in theory would not have been possible without the
development and use of autoradiography (exposure of photographic emulsion by
radioactive isotopes).
http://schaechter.asmblog.org/.a/6a00d8341c5e1453ef017c37accbac970b-300wi
• Process:
• The radioative isotopes reacted with the emulsion
(similarly to light does)
• The surface is then immersed in a radioactively-
sensitive emulsion containing silver bromide
(AgBr)
• The radiation released from the 3H-T converts the
Ag+ ions in silver bromide into insoluble metal
grains
• After washing the excess silver bromide;
• Dark areas on the photographic emulsion indicated
the presence of DNA
• Result:
- More accurate sizing of the length of the chromosome
length (since it is done during uncoiled state)
- Formation of replication bubble
- In prokaryote, also involves bidirectional copying of the
DNA
3.2 U.10 Sex chromosomes determines
sex and autosomes are chromosomes
that do not determine sex.

• The X and Y chromosome determine the sex

of an individual
• The X chromosome contains over 2000 genes
in comparison to the Y chromosome has less http://images.zeit.de/wissen/gesundheit/2014-
01/y-chromosom/y-chromosom-540x304.jpg
then 100 genes
• The X chromosome has many genes
located on it essential to human
development, while the Y chromosome
has a small number of genes (some of
these are shared with the X
chromosome). The rest of the genes on
the Y chromosome are only necessary for
male development
3.2.U10 Sex is determined by sex chromosomes and autosomes are chromosomes that do not determine
sex.

Sex Determination: It’s all about X and Y…

Humans have 23 pairs of chromosomes in
diploid somatic cells (n=2).

22 pairs of these are autosomes, which are

homologous pairs.

One pair is the sex chromosomes.

XX gives the female gender, XY gives male.

Karyotype of a human male, showing X and Y chromosomes:

http://en.wikipedia.org/wiki/Karyotype
SRY
The X chromosome is much larger than the Y.
X carries many genes in the non-homologous
region which are not present on Y.

The presence and expression of the SRY gene

on Y leads to male development.

Chromosome images from Wikipedia:

http://en.wikipedia.org/wiki/Y_chromosome
3.2.U10 Sex is determined by sex chromosomes and autosomes are chromosomes that do not determine
sex.

SexDetermination:
Sex Determination: It’s
It’s all
all about
about XX
and Y…
and Y…
segregatein
Chromosome pairs segregate in meiosis.

containing
Females (XX) produce only eggs containing
the X chromosome.

can contain
Males (XY) produce sperm which can contain
either X or Y chromosomes.
Segregationof
Segregation of the
thesex
sexchromosomes
chromosomesin
inmeiosis.
meiosis.
SRY gene determines maleness.
gametes
gametes
X
X Y
Y and
Find out more about its role and
do men have nipples?
just why do
X
X XX XY

X
X XX XY
there is
Therefore there isan
an even
even chance*
of the
of the offspring
offspringbeing
beingmale
maleor
or female.
female. http://www.hhmi.org/biointeractive/gender/lectures.html
http://www.hhmi.org/biointeractive/gender/lectures.html

Chromosome images
Chromosome imagesfrom
fromWikipedia:
Wikipedia:
http://en.wikipedia.org/wiki/Y_chromosome
https://www.sciencedaily.com/releases/200
8/12/081211121835.htm
3.2.U9 A karyogram shows the chromosomes of an organism in homologous pairs of decreasing
length.

Karyogram is a diagram or photograph of the chromosomes present in a nucleus (of

a eukaryote cell) arranged in homologous pairs of decreasing length.
The chromosomes are visible in cells that are undergoing
mitosis – most clearly in metaphase.
Stains used to make the chromosomes visible also give each
chromosome a distinctive banding pattern.

A micrograph are taken and the

chromosomes are arranged
according to their size, shape and
banding pattern. They are arranged
by size, starting with the longest
pair and ending with the smallest.

https://commons.wikimedia.org/wiki/File:NHGRI_human_male_karyotype.png
The terms karyotype and karyogram
have different meanings.
Karyotype is a property of a cell—the number
and type of chromosomes present in the nucleus

Karyogram is a diagram or photograph of the

chromosomes present in a nucleus (of a
eukaryote cell) arranged in homologous pairs of
decreasing length.
Can you determine the sexes of these two
karyograms?

Female Male

Images believed to be in the Public Domain

Karyotyping
•A karyogram is a picture of an organism's genetic make-up in which the
chromosomes of a cell have been stained so that the banding pattern
of the chromosomes appear.
•Cells in mitotic metaphase are stained to show distinct parts of the
chromosomes. The cells are then photographed through a
microscope and enlarged.
•The chromosomes are cut from the photograph and arranged
according to size, shape, centromere position, and banding patterns.

http://www.mrothery.co.uk/module2/images/Image214.gif
Chromosomal abnormalities
http://learn.genetics.utah.edu/content/disor
ders/chromosomal/

Trysomy-21  Down’s syndrome Trysomy-18  Edward’s syndrome

Images believed to be in the Public Domain

3.2.A4 Use of karyograms to deduce sex and diagnose Down syndrome in humans.

Can you use a karyogram to determine sex and whether a person has Down
Syndrome?

Use the Biology Project activity to practice

Learn more about:
your skills and understanding:
• Diagnosing genetic disorders
http://www.biology.arizona.edu/human_bio/activities/karyotypin
• Down Syndrome g/karyotyping.html
http://learn.genetics.utah.edu/content/chromosomes/karyotype/
http://learn.genetics.utah.edu/content/disorders/chromosomal/down/
Cri-du-Chat Syndrome, Klinefelter syndrome, Turner
Syndrome, Williams Syndrome-

http://learn.genetics.utah.edu/content/disor
Cri-du-chat Syndrome
ders/chromosomal/

Williams Syndrome
Klinefelter Syndrome Turner Syndrome
Review: 3.3.A3 Description of methods used to obtain cells for karyotype analysis e.g. chorionic
villus sampling and amniocentesis and the associated risks.
3.3.A3 Description of methods used to obtain cells for karyotype analysis e.g. chorionic villus sampling and
amniocentesis and the associated risks.

Can be carried out in the 16th week of the pregnancy with around
a 1% chance of a miscarriage
https://www.youtube.com/watch?v=fvqJ4lX5I8o
https://www.youtube.com/watch?v=bZcGpjyOXt0
nucleus science

http://www.medindia.net/animation/amniocentesis.asp
Amniocentesis

Done in about
week 16 of
pregnancy.

About 0.6 % risk of

miscarriage
 Karyotyping and Chorionic villus
sampling
- Sampling is performed around
week 11 - 13 of pregnancy
- Cells are gathered from
chorionic villi (cells from the
zygote)
- Cells are cultured, DNA is
extracted and a karyotype is
made
- About 0.6% risk for
miscarriage
https://www.youtube.com/watch?v=sxEf_d
dmpZk
-47minute onwards
A Side by Side Comparison
• Why do these?
– The mother had positive results (worrisome
result) from a prenatal screening test.
– The mother had a chromosomal condition in a
previous pregnancy. E.g. Down Syndrome
– The mother is 35 or older.  More risk of the
baby to develop Down Syndrome
– There is a family history of a specific genetic
condition, or you or your partner is a known
carrier of a genetic condition.   Cystic Fibrosis
3.3.A3 Description of methods used to obtain cells for karyotype analysis e.g. chorionic villus sampling and amniocentesis
and the associated risks. AND 3.3.A2 Studies showing age of parents influences chances of non-disjunction.

The risk of a child having a

trisomy such as Down
Syndrome increases greatly in
older mothers.

It is often advisable for

mothers in a high risk
category to choose to have a
prenatal (before birth) test.
Amniocentesis or chorionic
villus samples can be taken
and from them a karyotype
can be constructed.

Data from a positive test can

be used to decide the best
course of action, which at
times be to abort the fetus.
https://commons.wikimedia.org/wiki/File:Down_Syndrome_Risk_By_Age.png
3.2.S1 Use of databases to identify the locus of a human gene and its polypeptide product.

Use the online database (http://www.genecards.org/) to search for the

genes and the loci responsible for synthesizing the following polypeptides:

• Rhodopsin
• 3 different types of Collagen
• Insulin
• One other protein of your choice

n.b. the list of polypeptides reflects the examples you were required to learn for 2.4.A1
• Identifying Gene Loci
• GenBank can be used to identify the specific
location of a gene on any given chromosome
To identify a specific gene locus:
• Change the search parameter from nucleotide to gene and type in
the name of the gene of interest
• Choose the species of interest (i.e. Homo sapiens) and click on the
link (under ‘Name / Gene ID’)
• Scroll to the ‘Genomic context’ section to determine the specific
position of the gene locus
• A visual profile can be generated by clicking on ‘Map Viewer’ link and
looking at the Ideogram on the left side
Have the following screenshot for your gene location in the
chromosome

Hover your
cursor on
the gene to
obtain this
• Identifying Polypeptide Products:
• GenBank can also be used to identify the polypeptide product of any
given gene
• To identify the polypeptide product of a gene:

• Change the search parameter from nucleotide to gene and type in

the name of the gene of interest
• Choose the species of interest (i.e. Homo sapiens) and click on the
link (under ‘Name / Gene ID’)
• The polypeptide product should be identified within
the ‘Summary’ section
• Have the following screenshot
• Below are examples of different genes that may be
searched for:
• HBB  –  Haemoglobin beta gene
• DRD4  –  Dopamine receptor D4 gene
• F8  –  Coagulation factor VIII gene
• IGF1R  –  Insulin growth factor 1 receptor gene
Bibliography / Acknowledgments

Bob Smullen