CHAPTER 16: CHROMOSOMES,

GENES AND PROTEINS

16.1 CHROMOSOMES AND CELL

DIVISION
16.2 INHERITING GENES
16.3 GENES AND PROTEIN
SYNTHESIS
16.1 CHROMOSOMES
AND CELL DIVISION
Chromosomes, Genes & Proteins
chromosome ( noun )
Definition: A thread-like structure in the nucleus of a cell that carries genetic information.
Example: Humans have 23 pairs of chromosomes in each cell.
meiosis ( noun )
Definition: A type of cell division that produces sex cells (sperm and egg) with half the number
of chromosomes as the original cell.
Example: During meiosis, the number of chromosomes in a cell is reduced by half.
gamete ( noun )
Definition: A sex cell (sperm or egg) that has half the number of chromosomes as a normal cell.
Example: The sperm and egg are gametes that combine to form a fertilized egg.
•Gene. A gene is a section of DNA that codes for a certain protein or characteristic.
•Allele. An allele is a certain version of a gene.
•Dominant. When a dominant allele is present, it is always expressed in an organism.
•Recessive. Only the receive allele can be present if its characteristic is to be expressed.
•Codominant. Neither allele is recessive so characteristics of both alleles are expressed.
•Homozygous. Both alleles are the same, either dominant or recessive. Two identical
homozygous individuals that breed together will be pure-breeding. This is because they can
only pass down one allele (one characteristic).
•Heterozygous. One dominant and one recessive is present. A heterozygous individual will not
be pure breeding as two different alleys can be passed down.
•Genotype. The genotype is the genetic sequence of an organism in terms of the alleles
present.
•Phenotype. The phenotype is the physical characteristics expressed by an organism based
on the environment and genotype. They are the observable features.
Chromosomes, Genes & Proteins
• The nucleus of every cell contains a number of long threads called chromosomes.
• Each chromosome in a cell contains one very long molecule of DNA.
• The DNA molecule carries a code that instructs the cell about which kinds of
proteins it should make
• Each chromosome carries instructions for making many different proteins.
• A part of a DNA molecule with the instructions for making one kind of protein is
called a gene.
• The genes on your chromosomes determine all sorts of things about you - for
example, what colour your eyes or hair are, whether you have a turned-up nose or a
straight one, and whether or not you have a genetic disease such as cystic fibrosis.
• You inherited these genes from your parents.
Most genes come in more than one form or variety.
The different forms of a gene are called alleles.
For example, the gene coding for a protein that determines
the colour of a chinchilla's fur might have alleles for
charcoal (very dark grey) or pale grey fur.
Each species of organism has its own number and variety
of genes.
This is what makes their body chemistry, their appearance
and their behaviour different from those of other species.
Humans have many chromosomes and tens of thousands
of genes.
We each have 46 chromosomes inside each of our cells,
all with many genes on them.
Every cell in your body has an exact copy of all your
genes.
All humans have the genes for the same characteristics,
but we all differ in the alleles of those genes that we have.
No one in the world has exactly the same
combination of alleles that you have - unless you have an
identical twin.
Example
B = brown eye colour
b = blue eye colour
Each allele is represented in a punnet square.
NOTE:
In the example below the mother has brown
eyes but carries one brown eye allele and one
blue eye allele. The father is also brown eyed
but again carries one brown eye allele and one
blue eye allele.

Each letter
represents an
allele. One allele is
inherited from the
father and one
from the mother.
 Ø Chromosomes in haploid and diploid cells
Ø We have seen that humans have 46
chromosomes in each cell.
Ø These 46 chromosomes are two sets of 23.
One of these sets came from your mother,
and the other set from your father.

• You began your life as a single cell - a zygote -

formed by the fusion of an egg cell and a sperm
cell.
• The nuclei of each of these gametes contained a
single complete set of 23 chromosomes.
• When they fused together, they produced a
zygote with 46 chromosomes.
• A cell with a single set of chromosomes, such as
a gamete, is said to be haploid. The nucleus of
the zygote that was formed when the egg cell
and sperm cell fused together was diploid. The
zygote was a diploid cell.
 THE CELL CYCLE AND MITOSIS

v The cell cycle is a set of steps that take place in cell division.
v The cell cycle is how cells duplicate and divide. Cells need to divide all the time to replace dead
cells, for growth and for repair.
v The length of the cell cycle can vary. The length of the cell cycle varies between organisms, and
depends on the type of cell. Hair follicles, blood, skin and the digestive system lining all have a very
quick cell cycle and so divide divide fast
New Cells are Made by Mitosis:
• Most body cells have two copies of each
chromosome
• We describe these cells as diploid
• When cells divide their chromosomes
double beforehand
• This ensures that when the cell splits in
two, each new cell still has two copies of
each
chromosome (is still diploid)
• This type of cell division is used for growth,
Mitosis Overview
repair of damaged tissues, replacement of
cells and asexual reproduction and is known •Mitosis is a continuous process of cell division which
as mitosis occurs in all types of living cells.
• Mitosis is defined as nuclear division giving
•Mitosis involves four basic phases – prophase,
rise to genetically identical cells
metaphase, anaphase and telophase.
•Mitosis is the process where the division of cell occurs
by asexual reproduction.
ü Just before mitosis takes place, each of the
chromosomes in the parent cell are copied.
ü This must happen so that there are enough
chromosomes to be shared out into the new cells
for example, in a human, each cell needs to get
46 chromosomes of its own.
ü Each copy remains attached to the original one,
so each chromosome is made up of two identical
threads joined together.
ü The two identical threads are called chromatids,
and the point where they are held together is
called the centromere.
1.Interphase – the cell gets ready to divide. The cell grows, DNA duplicates and more organelles
are made.
2.Mitosis – the genetic material separates to different ends of the cell, and the cell gets ready to
divide into two daughter cells.
3.Cytokinesis – at the end of mitosis, the cytoplasm and cell membrane split, and two new
daughter cells are made.
MITOSIS
MITOSIS
Importance:
• All cells in the body (excluding gametes) are produced by mitosis of the zygote
• Mitosis is important for replacing cells e.g, skin cells, red blood cells and for allowing growth
(production of new cells e.g. when a zygote divides to form an embryo)

Occurs in:
• Growth: mitosis produces new cells
• Repair. to replace damaged or dead cells
• Asexual reproduction: mitosis produces offspring that are genetically identical to the
parent
 MEIOSIS

• In animals, meiosis only occurs for sexual reproduction and is mainly required for the
formation of gametes.( sex cells), i.e., the egg and the sperm.
• Meiosis results in genetic variation, so the cells produced are not all genetically identical.
• The diploid parent cell produces haploid daughter cells.
• Meiosis is said to be a reduction division.
• This means that the number of chromosomes is halved - or reduced - as a result of
meiosis.
• In humans, for example, a diploid cell with 46 chromosomes divides by meiosis to form
haploid daughter cells each with 23 chromosomes.
Process:
• Each chromosome makes identical
copies of itself (forming X-shaped
chromosomes)
• First division: chromosomes pair up
along the centre of the cell,
recombination occurs and then cell
fibres will pull the pairs apart, each
new cell will have one of each
recombinant chromosome pair
• Second division: chromosomes will
line up along the centre of the cell,
cell fibres will pull them apart (as
with mitosis)
• A total of four haploid daughter
cells will be produced
Importance:
• Production of gametes e.g. sperm cells and egg cells,
pollen grains and ovum
• Increases genetic variation of offspring
• Meiosis produces variation by forming new combinations
of maternal and paternal chromosomes every time a
gamete is made, meaning that when gametes fuse
randomly at fertilisation, each offspring will be different
from any others
16.2 Inheriting genes
• Homologous chromosomes are pairs of chromosomes
that have the same structure and contain the same
genes at the same loci, but they may have different
versions of those genes (called alleles).
• One chromosome in each homologous pair is inherited
from the mother, and the other is inherited from the
father.
• Homologous chromosomes are important in meiosis,
the process of cell division that produces gametes
(sperm and egg cells), where they pair up and
exchange genetic material in a process called crossing
over.
• This leads to genetic variation in offspring.
 GENES AND ALLELES
• Inheritance is the transmission of genetic information from one generation to the next generation
• A gene is a short length of DNA found on a chromosome that codes for a particular characteristic
(expressed by the formation of different proteins)
• Alleles are variations of the same gene

Term Definition Example

The different forms of the gene -
humans have two alleles for each For eye color: Allele for brown eyes, Allele for
Allele/Variant
gene as they inherit one from each blue eyes
parent.
Only one (out of the two alleles) is
Brown eye allele (B) is dominant, so a person
needed for it to be expressed and for
Dominant Allele with one brown eye allele (B) and one blue
the corresponding phenotype to be
eye allele (b) will have brown eyes (Bb).
observed.
Two copies are needed for it to be Blue eye allele (b) is recessive, so a person
Recessive Allele expressed and for the corresponding needs two blue eye alleles (bb) to have blue
phenotype to be observed. eyes.
homozygous and heterozygous terms are related to dominant and recessive alleles, but they
describe the combination of alleles an individual has:

•Homozygous means having two identical alleles for a

trait, and it can be either:
• Homozygous dominant: Two dominant
alleles (e.g., BB for brown eyes).
• Homozygous recessive: Two recessive
alleles (e.g., bb for blue eyes).

•Heterozygous means having two different alleles for a

trait:
• In this case, one allele is dominant, and the
other is recessive (e.g., Bb, where the
dominant allele (B) will be expressed).
So while dominant and recessive alleles describe the
strength of the allele's expression, homozygous and
heterozygousdescribe the combination of alleles a
person has for a particular gene.
 HOMOZYGOUS, AND HETEROZYGOUS ALLELES IN TABLE FORM:

Term Definition Example

An allele that is expressed
Dominant Allele even if only one copy is Brown eye allele (B)
present.
An allele that is only
Recessive Allele expressed when two Blue eye allele (b)
copies are present.
An individual has two
BB (both brown eye
Homozygous Dominant dominant alleles for a
alleles)
gene.
An individual has two
Homozygous Recessive recessive alleles for a bb (both blue eye alleles)
gene.
An individual has one
Bb (one brown and one
Heterozygous dominant allele and one
blue)
recessive allele.
GENOTYPE AND PHENOTYPE
Term Simplified Definition Example
The genes a person has for a
Genotype BB, Bb, or bb for eye color.
trait. (the genetic composition)

The physical trait that shows up Brown eyes or blue eyes,

Phenotype
because of the genes. depending on the genotype.

EXAMPLES FOR DIFFERENT TRAITS:

Trait Genotype Phenotype
Eye Color BB (two brown genes) Brown eyes
Bb (one brown, one blue gene) Brown eyes
bb (two blue genes) Blue eyes
rr (two white flower genes) rr (two white flower genes)
Flower Color RR (two red flower genes) Red flowers
Rr (one red, one white flower gene) Red flowers
 CODOMINANCE
Codominance is a type of genetic inheritance where both alleles for a gene
are fully expressed in the organism, without one being dominant over the other.
As a result, both traits are visible at the same time in the phenotype.
Example:
•Blood Type AB: In the case of blood types, if a person inherits an A allele from
one parent and a B allele from the other, both are expressed equally. The person
will have AB blood type, which shows both A and B traits.
• Genotype: AB
• Phenotype: Blood type AB (both A and B proteins are present on red
blood cells).
Ø The inheritance of blood groups is an example of codominance.
Ø There are three alleles of the gene governing blood groups, instead of the usual two.
o We can use GENETIC DIAGRAMS to predict the outcome of crosses that involve
codominant alleles:
o 'Show how a parent with blood group A and a parent with blood group B can produce
offspring with blood group O'
Punnett square showing the inheritance of Blood Group

• Parents with these blood types have a 25% chance of

producing a child with blood type O
 GENETIC DIAGRAMS
q Monohybrid inheritance is the inheritance of characteristics controlled by a single gene (mono = one)
q This can be determined using a genetic diagram known as a Punnett square.
q A Punnett square diagram shows the possible combinations of alleles that could be produced in the offspring
q Monohybrid crosses are used to predict the ratios of inherited characteristics in a population.
q There are always four outcomes.
 PEDIGREE CHARTS
o Family pedigree diagrams are usually used to trace the pattern of inheritance of a specific characteristic
(usually a disease) through generations of a family
o This can be used to work out the probability that someone in the family will inherit the genetic disorder
o Males are represented by a square shape and females are represented by a circle.
o Affected individuals are filled in and unaffected individuals are unfilled.
o Horizontal lines link males and females which are mates. • If a trait skips generations, it
o Vertical lines link couples to their offspring tends to be a recessive trait.
Individuals can carry a
recessive allele without
expressing the trait themselves.
• These individuals are carriers.
• They can still pass it on to their
offspring.
• In the pedigree above, every generation • If the offspring inherit the
has affected individuals. There are four recessive allele from both
females and one male affected. The rest of parents, the offspring will be
the members are unaffected. affected.
• If a trait appears in every generation, it is • This is represented in
most likely a dominant trait. The pedigree pedigrees as unaffected
above shows a dominant trait. parents having affected
offspring.
 WHAT IS SEX-LINKED INHERITANCE?
• Sex-linked inheritance refers to traits that are carried on the X or Y chromosome, which determine the sex
of an individual.
• Because females have two X chromosomes and males have one X and one Y chromosome, certain traits
are more commonly found in either males or females.
v In almost all cases, there are only alleles on the X chromosome as the Y chromosome is
much smaller
v Because males only have one X chromosome, they are much more likely to show sex-
linked recessive conditions (such as red-green colour blindness and haemophilia)
v A result of this is that some traits are more common to one gender, for example any gene
located on the Y chromosome can only be present in males as females do not have this
chromosome.
v Females, having two copies of the X chromosome, are likely to inherit one dominant allele
that masks the effect of the recessive allele
v A female with one recessive allele masked in this way is known as a carrier; she doesn't
have the disease, but she has a 50% chance of passing it on to her offspring
v If that offspring is a male, he will have the disease
v The results of a cross between a normal male and a female who is a carrier for
colourblindness is as follows:
PUNNETT SQUARE SHOWING THE INHERITANCE OF COLOURBLINDNESS, AN X-LINKED
CONDITION

• In the cross above, there is a 25% chance of producing a male who is colourblind, a 25%
chance of producing a female carrier, a 25% chance of producing a normal female and a 25%
chance of producing a normal male
16.3 Genes and protein
synthesis
 THE DNA BASE SEQUENCE DETERMINES THE AMINO
ACID SEQUENCE IN PROTEIN
§ The DNA code (a series of bases) is converted into proteins (a series of amino acids)
§ The process of protein synthesis has two stages
1) Transcription (rewriting the base code of DNA into bases of RNA)
2) Translation (using RNA base sequence to build amino acids into sequence in a protein)
§ Therefore, the sequence of bases in a gene determines the sequence of amino acids that
make a specific protein
§ Different sequences of amino acids give different shapes and functions to protein molecules
§ Proteins are made up of long chains of amino acids. In humans, there are 20 different
naturally occurring amino acids
Ø The order of bases in a gene determines the sequence of amino acids
Ø The order of amino acids determines the shape of the protein
Ø The shape of the protein determines its function.
Ø So, the order of bases in the DNA determines which proteins are produced.
Ø When the amino acids join together, they form a unique sequence, which then folds to create
a unique shape.

o Every protein has a particular number and order of amino acids,

which is why each protein has a different, specific shape and
function.
o For example, some proteins are:
ü Enzymes – Biological catalysts – An example is amylase
ü Hormones – Send messages to different parts of the body – An
example is insulin
ü Structural proteins – Provide mechanical support – An example is
collagen
 TRANSCRIPTION AND TRANSLATION
Protein synthesis occurs in two stages:
•Transcription – The base sequence of a DNA gene is transcribed (copied) into an mRNA molecule.
Transcription takes place in the cell’s nucleus.
•Translation – mRNA (messenger RNA) is translated, producing an amino acid sequence (protein). This
process takes place on ribosomes in the cell’s cytoplasm.
 TRANSCRIPTION AND TRANSLATION
Protein synthesis
DNA is too large to leave the nucleus in order to make the proteins and therefore a series of steps must
be taken to copy and transport the genetic information.
Ø DNA helix is untwisted and unzipped
Ø mRNA nucleotides (messenger RNA: a different type of nucleotide) match to their complementary
base on the strand.
Ø The mRNA nucleotides themselves are then joined together, creating a new strand called a template
strand of the original DNA. This process is called TRANSCRIPTION.
Ø The template strand of mRNA then moves out of the nucleus to the cytoplasm and onto structures
called ribosomes.
Ø At the ribosomes, the bases on the mRNA are read in threes to code for an amino acid (the first three
bases code for one amino acid, the second three bases code for another etc).
Ø This is called TRANSLATION.
Ø The corresponding amino acids are brought to the ribosomes by carrier molecules.
Ø These amino acids connect together to form a protein.
Ø It is therefore the triplet code of bases that determines which protein is produced and therefore
expressed. When the chain is complete the protein folds to form a unique 3D structure.
OVERVIEW OF
PROTEIN
SYNTHESIS
 STEM CELLS AND SPECIALIZED CELLS
https://www.youtube.com/watch?v=Ap24-NpxmFg

STRUCTURE AND FUNCTION

•Specialised cells have a structure that fits their function, allowing them to perform specific tasks
effectively.
•Examples of specialised cells include white blood cells, red blood cells, nerve cells (neurons), sperm
cells, smooth muscle cells, and ciliated epithelial cells.

FORMATION AND DIFFERENTIATION

•Unspecialised cells are produced through a process called mitosis.
•Specialised cells are derived from stem cells, which have the ability to transform into any specialised
cell through a process called differentiation.
•Stem cells can differentiate into various types of specialised cells, giving rise to the diversity of cell
types in the body.
•There are two types of stem cells: embryonic stem cells, obtained from embryos, and adult stem cells,
found in specific sites in the body such as the bone marrow and brain.
USES OF STEM CELLS

•Stem cell therapy involves generating new specialised cells to replace dead ones, and is
utilized in treating conditions such as leukemia.
•The bone marrow contains stem cells responsible for producing red and white blood cells as
well as platelets, which are often depleted in leukemia patients.
•Stem cells can be extracted from the patient's bone marrow, multiplied in a laboratory, and
then reintroduced into the body to replenish the missing blood cells.

A stem cell can divide by mitosis to form a tissue of stem

cells.
Then different cell clusters can differentiate to different
things, leading to many tissues of different specialised
cells which is important for development, growth and
repair.
This is how the human body develops from a
single embryonic stem cell.
EMBRYONIC STEM CELLS
•Stem cells in embryos are known as embryonic stem cells. Embryonic stem cells are found in
early embryos and are completely undifferentiated. This means that they can be used to turn into
any type of cell.
•Embryonic stem cells can be cloned and made into most types of cells. Environmental factors
can be used to influence their differentiation into almost any type of cell. This has many potential
medical applications.
ADULT BONE MARROW STEM CELLS
•Stem cells in adults are only found in a few places. Stem cells can be found in
the bone marrow, teeth and other areas. These cells cannot differentiate into
any type of cells (like embryonic stem cells). Instead, they can only differentiate
into a few predetermined cells, such as some blood cells.
•Adult stem cells can form many types blood cells. Adult stem cells can be
used to form different blood cells, including red blood cells and white blood
cells.

PLANT STEM CELLS

•Stem cells are found in plant meristems. Stem cells in plant meristems can
differentiate to form any type of plant cell. They are present throughout the
lifespan of the plant.