Inheritance

Kabanda Stephen
Passage of
information
from parents to
offspring
Homologous
chromosomes
▪ These are a pair of chromosomes in a diploid cell
that have the same structure as each other, with
the same genes (not necessarily the same alleles of
those genes) at the same loci
▪ They pair together to form a bivalent during
meiosis I
Karyogram of a
human male
 ▪ fertilisation: the fusing of the nuclei of two gametes, to
form a zygote

▪ zygote: a cell formed by the fusion of the nuclei of two

gametes; most zygotes are diploid
Haploid
and diploid ▪ diploid: containing two complete sets of chromosomes;
can be signified by the symbol 2n

cells ▪ homologous chromosomes: two chromosomes that

carry the same genes in the same positions

▪ haploid: containing one complete set of chromosomes;

can be signified by the symbol n
The need for a reduction division (meiosis)
prior to fertilisation in sexual reproduction

▪ A diploid organism needs a reduction division (meiosis) to produce haploid cells

▪ This is necessary to restore the diploid number on fertilisation, to avoid doubling the
number of chromosomes in every generation
▪ Gametes are always haploid as a result of meiosis
MEIOSIS
 ▪ meiosis: nuclear division that results in the production of four
Meiosis daughter cells with half the chromosome number of the parent cell
and with reshuffled alleles; in animals and plants it results in the
formation of gametes
▪ bivalent: two homologous chromosomes lying alongside each other
during meiosis I
▪ chiasma (plural: chiasmata): a position at which non-sister
chromatids of homologous chromosomes cross over each other
▪ crossing over: the exchange of alleles between non-sister
chromatids of homologous chromosomes during meiosis I
Meiosis
 ▪ Meiosis involves two divisions called Meiosis I and Meiosis II.
Meiosis ▪ It is a reduction division resulting in 4 daughter cells with half the
number of chromosomes of the parent nucleus.
▪ Meiosis II is similar to mitosis.
MEIOSIS I
 ▪ Meiosis involves two divisions called Meiosis I and Meiosis II.
Meiosis ▪ It is a reduction division resulting in 4 daughter cells with half the
number of chromosomes of the parent nucleus.
▪ Meiosis II is similar to mitosis.
PROPHASE I
▪ Chromosomes become visible through
condensation or coiling
▪ The nuclear envelope breaks down
▪ Nucleolus disappears
▪ Centrioles migrate to opposite poles
▪ Spindle fibres are formed
▪ Homologous chromosomes pair up to form
a bivalent
▪ Crossing over of chromatids may occur
Crossing over
▪ Chiasma: point where crossing over occurs (plural- chiasmata)
▪ Crossing over occurs between non sister chromatids
METAPHASE I
▪ Bivalents line up at the equator
▪ Bivalents attach themselves onto the spindle fibres
using their centromeres
Independent assortment
▪ Homologous chromosomes / bivalents line up
randomly on the, equator
▪ Produces (many) different chromosome
combinations
▪ Number of possible combinations is 2n
▪ Leading to new combinations of maternal and
paternal alleles
ANAPHASE I
▪ Homologous chromosomes separate and move to
opposite poles, centromere first
▪ They are pulled by the contracting microtubules
TELOPHASE I
▪ Homologous chromosomes arrive at
opposite poles.
▪ Nuclear envelope reforms
▪ Nucleolus reforms
▪ Spindle fibres breakdown
Cytokinesis
▪ Usually, the cytoplasm now splits into two, forming two
complete cells, each with the haploid number of
chromosomes
MEIOSIS II
PROPHASE II
▪ The nuclear envelope breaks down
▪ Nucleolus disappears
▪ Centrosomes and centrioles replicate and
move to opposite poles
▪ Spindle fibres are formed at 90o to the
original spindle
METAPHASE II
▪ Chromosomes line up seperately across the
equator of the spindle
ANAPHASE II
▪ Spindle fibres contract splitting
centromeres into two
▪ Sister chromatids are pulled apart to
opposite poles centromere first
TELOPHASE II
▪ Sister chromatids arrive at opposite poles.
▪ Nuclear envelope reforms.
▪ Nucleolus reforms
▪ Spindle fibres breakdown
▪ Cytokinesis
▪ 4 haploid daughter cells are formed
How meiosis produces
genetically different gametes

▪ Crossing over (chiasma) between non-

sister chromatids of, homologous
chromosomes (bivalent) in prophase I
leads to exchange of genetic material.
Linkage groups broken leading to new
combinations of alleles
How meiosis produces
genetically different gametes

▪ Independent assortment of homologous

chromosomes at equator during
metaphase I also leads to new
combinations of alleles in daughter cells
 The random fusion of gametes at
fertilisation and random mating can
Other also lead to genetic variation including
the expression of rare, recessive alleles
causes of if the genotypes are homozygous
genetically
different Possible mutations can also result in
individuals genetic variation in offspring
The causes and effects of the three sources of genetic variation
 The roles of genes in
determining the phenotype
 ▪ gene: This a length of DNA that codes for a particular protein
Genetics or polypeptide

▪ allele: One of two or more alternative forms of a gene. e.g.,

the alleles of the ABO blood group gene are found at a locus
on chromosome 9, with the alleles including IA, IB and IO

▪ locus: the position of a gene on a chromosome. The same

gene is always found at the same locus of the same
chromosome
 ▪ genotype: the alleles possessed by an organism (for example,
Genetics IA IB)
▪ homozygous: having two identical alleles of a gene
(e.g., HbA HbA)
▪ heterozygous: having two different alleles of a gene
(e.g., HbA HbS)
▪ phenotype: the observable features of an organism; it is
affected by genes and also by environment.
It may be possible to see the phenotype (e.g., human eye
colour) or tests may be required(e.g., ABO blood group).
 ▪ dominant: a dominant allele has the same effect on phenotype,
Genetics whether or not another allele is present.
For example, in the ABO blood group gene, IA is dominant to IO.
Therefore, a person with the genotype IA IO has blood group A
because only the dominant allele is expressed
▪ recessive: a recessive allele only affects phenotype if no dominant
allele is present.
For example, IO is recessive to IA, so a person with the genotype IA IO
has blood group A, and a person can only be blood group O if they
are homozygous recessive, IO IO
▪ multiple alleles: the existence of three or more alleles of a gene, as,
for example, in the determination of A,B,O blood groups
▪ codominant: codominant alleles each affect phenotype when both
of them are present
 ▪ It involves the inheritance of a single characteristic controlled
Monohybrid by different alleles
inheritance ▪ Example: One variety of cat can have short hair or long hair.
The allele for short hair (H) is dominant to the allele for long
hair (h)
▪ Construct a genetic cross between a pure breeding short
haired cat and a pure breeding long haired cat
Parental phenotype short haired cat X long haired cat

Parental genotype HH X hh

Gametes H H h h

Male gametes

H H

h Hh Hh
Offspring genotype Female
Short haired Short haired
gametes
and phenotypes Hh Hh
h
Short haired Short haired
▪ Consider a genetic cross between two F1 offspring

Parental phenotype short haired cat X short haired cat

Parental genotype Hh X Hh

Gametes H h H h

Male gametes

H h

H HH Hh
Offspring genotype Female
Short haired Short haired
gametes
and phenotypes Hh hh
h
Short haired long haired
Phenotypic ratio 3:1
 ▪ The F1 generation is the offspring resulting from a cross
F1 and F2 between an organism with a homozygous dominant genotype,
generations and one with a homozygous recessive genotype

▪ The F2 generation is the offspring resulting from a cross

between two F1 (heterozygous) organisms
 ▪ This is a genetic cross in which an organism showing the
Test cross dominant characteristic is crossed with a homozygous
recessive organism
▪ The phenotypes of the offspring can indicate whether the
original organism is homozygous or heterozygous

▪ E.g., a short haired cat may have the genotype HH or Hh

▪ To find out its genotype, it could be crossed with a long-haired
cat
▪ If the short haired cat’s genotype is HH

Parental phenotype short haired cat X short haired cat

Parental genotype HH X hh

Gametes H H h h

Male gametes

H H

h Hh Hh
Offspring genotype Female
Short haired Short haired
gametes
and phenotypes Hh Hh
h
Short haired Short haired
All offspring are short haired
▪ If the short haired cat’s genotype is Hh

Parental phenotype short haired cat X short haired cat

Parental genotype Hh X hh

Gametes H h h h

Male gametes

H h

h Hh hh
Offspring genotype Female
Short haired Long haired
gametes
and phenotypes Hh hh
h
Short haired Long haired
Phenotypic ratio 1:1
 ▪ Most genes have more than two alleles, e.g., the gene for
Multiple alleles human blood groups
▪ The four blood groups A, B, AB and O are determined by a
single gene. The gene has three alleles IA, IB and IO
▪ Alleles IA and IB are codominant whereas the allele IO is
recessive to both IA and IB
 ▪ As diploid cell can have only two alleles, the possible
Multiple alleles genotypes and phenotype are shown below:

BLOOD GROUP GENOTYPE

A I AI A

I AI O
B IBIB

IBIO
AB I AI B

O IOIO
 ▪ sex-linked gene: a gene found on a region of a sex
SEX LINKAGE chromosome that is not present on the other sex
chromosome; in humans, most sex-linked genes are found on
the X chromosome

▪ carrier: an individual that possesses a particular allele as a

single copy whose effect is masked by a dominant allele, so
that the associated characteristic (such as a hereditary
disease) is not displayed but may be passed to offspring
 ▪ The X chromosome has many different genes. One of them is
SEX LINKAGE a gene that codes for the production of protein needed for
blood clotting, called factor VIII
▪ There are two alleles of this gene, the dominant one XH,
producing normal factor VIII, and the recessive one Xh,
resulting in a lack of factor VIII
▪ The recessive allele causes the disease haemophilia, in which
blood does not clot properly
 ▪ Females have two X chromosomes, thus have two copies of
SEX LINKAGE the gene
▪ Males have one X chromosome and so have one copy of the
gene
▪ Therefore, the possible genotypes for men and women are
different
SEX LINKAGE
Genotype Phenotype
XHXH normal blood clotting
XHXh normal blood clotting
XhXh haemophilia
SEX LINKAGE
Genotype Phenotype
XHY normal blood clotting
XhY haemophilia
Parental phenotype normal female X normal male

Parental genotype XHXh X XHY

Gametes XH Xh XH Y

Female gametes

XH Xh

XH XHXH XHXh
Offspring genotype Male female with normal blood clotting female with normal blood clotting
gametes
and phenotypes XHY Xh Y
Y male with haemophilia
male with normal blood clotting
 How the allele for ▪ The haemophilia allele on X chromosome is sex-linked
haemophilia may be ▪ The haemophilia allele is recessive
passed from a man ▪ A man is homogametic (has one X chromosome)
to his grandchildren ▪ The Y chromosome does not have the blood clotting gene
▪ Only daughter(s) get his X chromosome. Daughter(s) can
carrier(s) of the (haemophilia) allele
▪ Grandson(s) 50% chance of having the (haemophilia) allele /
haemophilia
▪ Granddaughter(s) 50% chance of carrying, (haemophilia) allele
How the allele for
haemophilia may be
passed from a man to his
grandchildren

▪ The man’s genotype is XhY

▪ F1 daughter’s genotype can

be XHXh or XhXh

▪ F2 grandson’s genotypes can

be. XhY or XHY

▪ F2 granddaughter’s
genotypes can be XHXH or
XHXh
 DIHYBRID ▪ This considers the inheritance of two genes at the same time
INHERITANCE
 DIHYBRID ▪ Consider a pure-breeding, tall tomato plant with green leaves
was crossed with a pure-breeding, dwarf tomato plant with
INHERITANCE mottled yellow and green leaves. All the resulting F1
generation were tall with green leaves

▪ Using the symbols, A/a for height and B/b for leaf colour

▪ The allele A – is for tall tomato plants

▪ The allele a – is for dwarf tomato plants
▪ The allele B – is for green leaves
▪ The allele b – is for mottled yellow leaves
Parental phenotype tall tomato plant dwarf tomato plant
with green leaves X with mottled yellow leaves

Parental genotype AABB X aabb

AB ab
Gametes

Offspring genotype AaBb

and phenotypes all tall with green leaves
▪ Consider a cross between two tomato plants from the F1 generation:
▪ Due to independent assortment, the gametes formed from the heterozygous cells will be of four
types; AB, Ab, aB and ab, occurring in approximately equal proportions

Parental phenotype tall tomato plant tall tomato plant

with green leaves X with green leaves

Parental genotype AaBb X AaBb

Gametes AB or Ab AB or Ab
ab or aB ab or aB
 Gametes from one parent
AB Ab aB ab
AB AABB AABb AaBB AaBb
Tall green Tall green Tall green Tall green

Gametes from other parent

leaves leaves leaves leaves
Ab AABb AAbb AaBb Aabb
Tall green Tall yellow Tall green Tall yellow
leaves leaves leaves leaves
aB AaBB AaBb aaBB aaBb
Tall green Tall green Dwarf green Dwarf green
leaves leaves leaves leaves

ab AaBb Aabb aaBb aabb

Tall green Tall yellow Dwarf green Dwarf yellow
leaves leaves leaves leaves

The expected Tall green Tall yellow Dwarf green Dwarf yellow
ratio is: leaves leaves leaves leaves
9 3 3 1
▪ Using the symbols, A/a for height and B/b for leaf colour, draw a genetic diagram of the test-
cross to show that the expected ratio is 1:1:1:1

Gametes from one parent

ab

AB AaBb

Gametes from other parent

Tall green leaves

Ab Aabb
Tall yellow leaves

aB aaBb
Dwarf green leaves

ab aabb
Dwarf yellow leaves
 ▪ epistasis: the interaction of two genes at different loci; one
Epistasis gene may affect the expression of the other

▪ Example:
▪ In the inheritance of feather colour in chickens, there is an
interaction between two gene loci, I/i and C/c on different
chromosomes
▪ Individuals carrying the dominant allele I, have white feathers
even if they have the dominant allele C for coloured feathers
▪ Birds that are homozygous recessive are also white
▪ White Leghorn chickens have the genotype IICC, while white
Wyandotte chickens have the genotype iicc
White Wyandotte Chicken White Leghorn Chicken
▪ A white Leghorn is crossed with a white Wyandotte:

Parental phenotype White X White

Parental genotype IICC X iicc

Gametes IC ic

Offspring genotype IiCc

and phenotypes all white
▪ If the offspring of F1 are interbred to produce F2

Parental phenotype White X White

Parental genotype IiCc X IiCc

Gametes IC or Ic IC or Ic
iC or ic iC or ic
 Gametes from one parent

IC Ic iC ic

Gametes from other parent

IC IICC IICc IiCC IiCc
white white white white

Ic IICc IIcc IiCc Iicc

white white white white

iC IiCC IiCc iiCC iiCc

white white coloured coloured

ic IiCc Iicc iiCc iicc

white white coloured white

The usual 9:3:3:1 ratio expected in this generation is modified

into - 13 white : 3 coloured
 Epistasis: ▪ In the plant Salvia the colour of the flowers is affected by two
genes, A/a and B/b. Allele B gives purple flowers and is
inheritance of dominant to allele b, which gives pink flowers. However,
neither of these colours can be produced unless allele A is
flower colour in also present
Salvia a) List the nine possible genotypes and the phenotypes that
each will produce
b) Construct a genetic diagram to show how a cross between a
homozygous pink-flowered Salvia and a homozygous white-
flowered Salvia can produce offspring that all have purple
flowers
c) Construct a second genetic diagram to explain why
interbreeding these offspring produces an F2 generation
with purple-, pink- and white flowered plants in the ratio of
9:3:4
Autosomal ▪ This is the presence of two genes on the same autosome, (any
chromosome other than a sex chromosome) so that they tend
linkage to be inherited together and do not assort independently
Autosomal ▪ The fruit fly Drosophila, normally has a striped body and
antennae with feathery arista
linkage ▪ The gene for body colour and the gene for antennal shape are
on the same chromosome
Striped Body Ebony Body
normal antenna normal antenna
 ▪ A black body with no stripes results from a recessive allele
Autosomal called “ebony”. A recessive allele for antenna called
linkage “aristopedia”, looking rather like a Drosphila leg with two
claws at the end
▪ Body colour gene:
➢ E – allele for striped body
➢ e – allele for ebony body
▪ Antennal shape gene:
➢ A – allele for normal antenna
➢ a – allele for aristopedia antenna
▪ To keep track of linked alleles, each linkage group is placed in
a bracket
▪ For example, the genotype of a striped body fly with normal
antenna is written as (EA)(EA) and not EEAA, which would
indicate that the genes are on different chromosomes
Autosomal ▪ A fly homozygous for striped body and normal antenna is
crossed with a fly homozygous for ebony body and aristopedia
linkage antenna
▪ All the offspring had striped bodies and normal antenna

▪ F1 phenotypes: all striped body with normal antenna

Autosomal ▪ Now consider what will happen if a male from this F1
generation is crossed with a female with ebony body and
linkage aristopedia antennae

▪ The test cross ratio is 1:1 instead of 1:1:1:1

 Autosomal ▪ Complete linkage between genes on the same chromosome is
very rare
linkage and ▪ During prophase I of meiosis, homologous chromosomes
crossing over swap pieces of chromatids
▪ Crossing over breaks the linkage between genes on the same
chromosomes
▪ Unusually, in male Drosophila, no crossing over takes place.
Crossing over does, however, take place in female Drosophila
 Autosomal ▪ Consider a test cross of the female offspring. These have the
genotype (EA)(ea)
linkage and
crossing over
 Autosomal ▪ Most of the offspring of this cross have their parents’
combinations of characteristics – that is, either striped body,
linkage and normal antennae or ebony body, aristopedia antennae
crossing over • These are called parental types. They are in a 1 : 1 ratio
▪ If linkage is complete, you would expect all the offspring to be
like this
▪ But when the female is involved in this test cross, some flies
are produced that have different combinations of characters
▪ Some have striped body and aristopedia antennae, and some
have ebony body with normal antennae
• These are called recombinants. The two recombinant classes
themselves are in a 1 : 1 ratio
▪ They result from crossing over
 Autosomal ▪ The actual results of the cross are:
▪ striped body, normal antennae 44%
linkage and ▪ ebony body, aristopedia antennae 44%
crossing over ▪ striped body, aristopedia antennae 6%
▪ ebony body, normal antennae 6%
 Autosomal
linkage and
crossing over
 Autosomal ▪ Crossing over between two gene loci is more likely to take
place if the genes are further apart, because there is more
linkage and length of chromosome between them that can cross over
crossing over ▪ This can be used to get an idea of the positions of genes on a
chromosome
▪ The more recombinants you get in the offspring, the more
crossing over has taken place, and the further apart the genes
are
 Autosomal ▪ parental type: offspring that show the same combinations of
characteristics as their parents
linkage and ▪ recombinant: offspring that show different combinations of
crossing over characteristics from their parents
 ▪ May/June 2018 9700/43 qn 2
Autosomal
linkage and
crossing over:
example
The chi-
2
squared (χ )
test
This is a statistical test that is used to
determine whether differences
between observed and expected
results are significant
 ▪ The chi-squared test allows the evaluation of the results of
The chi- breeding experiments and some forms of ecological sampling

squared (χ2)
test
 ▪ A maize plant produced a total of 381 grains, 216 purple and
The chi- smooth, 79 purple and shrunken, 65 yellow and smooth and
21 yellow and shrunken
squared (χ2) (a) Using the symbols, A for purple and a for yellow and B for
smooth and b for shrunken, draw a genetic diagram to
test: explain these results

example (b) (b) Explain why yellow shrunken grains breed true
 c) A chi-squared test was carried out to test the significance of
The chi- the differences between the observed and expected results.
Complete the missing spaces in the Table
squared (χ2)
test:
example
 The chi- d) Use the calculated values of chi-squared test and the table of
probabilities to find the probability of the observed ratio of
phenotypes differing significantly from the expected
squared (χ2) e) State what conclusions may be drawn from the probability
test: found in (d)

example
 c) (381 x 3/16) = 71 (36/71) = 0.507
The chi- (381 x 1/16) = 24 (9/24) = 0.375
squared (χ2) 1.80
d) The calculated value of χ2 1.8 is less than the critical value
test: 7.82 at probability 0.05. therefore, it’s probability is larger
than 0.05
solution e) the difference between the expected and observed results is
just due to chance and there is no significant difference
between the expected and observed results
 ▪ The null hypothesis is that there is no difference between
The chi- your observed and expected results

squared (χ2) ▪ In other words, the null hypothesis says that any difference
between the observed and expected results is due to chance
test ▪ In this example, the χ2 value you have calculated supports the
null hypothesis
The roles of
genes in
determining the
phenotype
continued
The TYR
gene,
tyrosinase
and albinism
 ▪ This is an example of the relationship between a gene, an
Albinism enzyme and a human phenotype
▪ In albinism the pigment melanin is missing from the eyes, skin
and hair
▪ The mutation is an autosomal recessive and individuals that
are homozygous for the recessive allele show albinism
▪ A recessive allele of the gene for the enzyme tyrosinase
results in either the absence of tyrosinase or the presence of
inactive tyrosinase in the cells that produce melanin
 ▪ In these melanocytes, the first two steps of the conversion of
Albinism the amino acid tyrosine into melanin cannot occur
▪ Tyrosine cannot be converted into DOPA and dopaquinone
▪ The first two steps of the conversion of the amino acid,
tyrosine, into melanin therefore cannot take place

▪ Tyrosinase is a trans membrane protein found in large

organelles in melanocytes called melanosomes.
▪ It occurs in plants e.g., the blackening of sliced potatoes when
exposed to air as well as animal tissues
The HBB gene, haemoglobin
and sickle cell anaemia
 ▪ HBB is the gene that codes for the amino acid sequence in the
Sickle cell β-globin polypeptide in haemoglobin

anaemia ▪ In most people, the β – globin polypeptide begins with the

following sequence:
Val-His-Leu-Thr-Pro-Glu-Glu-Lys-
▪ But in people with with an abnormal form of the allele, the
base sequence CCT is replaced by CAT, and the amino acid
sequence becomes:
Val-His-Leu-Thr-Pro-Val-Glu-Lys-
 ▪ In low oxygen partial pressures, the ‘unusual’ β – globin
Sickle cell polypeptide make the haemoglobin molecule much less
soluble
anaemia ▪ The molecules tend to stick to each other, forming long fibres
inside red blood cells
▪ This causes the red blood cells to become sickle shaped
▪ In this form the red blood cells cannot carry oxygen. They also
get stuck in capillaries, blocking them
 The F8 gene,
factor VIII and
haemophilia
 ▪ The F8 gene contains the code for synthesising a protein
Haemophilia called coagulation factor VIII. The protein is synthesised in
liver cells
▪ It plays an important role in the sequence of events that takes
place during blood clotting
▪ Abnormal alleles of this gene result in the production of
abnormal forms of factor VIII protein, less factor VIII than
usual, or even no factor VIII at all
▪ This means that blood does not clot normally, and excessive
bleeding can follow from even a small injury. The condition is
called haemophilia
 ▪ The F8 gene is found on a non-homologous region of the X
Haemophilia chromosome. This means that it is a sex-linked gene
▪ Males have only one copy and cannot therefore mask the
effect of the faulty allele with a normal one
▪ Females can be heterozygous for this condition without
showing any symptoms at all, as only one copy of the normal
gene is required to result in the synthesis of enough factor VIII
The HTT gene,
huntingtin and
Huntington’s
disease
 ▪ This gene codes for the production of a protein called
Huntington’s huntingtin

disease ▪ In some people, the nucleotide sequence of this gene contains

a large number of repeated CAG triplets. (This is sometimes
called a ‘stutter’.)
▪ If the number of repeats is over 40, neurone development is
abnormal, and the person develops Huntington’s disease. (If
repeats number between 36 and 39, the disease sometimes
develops but sometimes not.)
 ▪ The condition develops gradually as a person gets older, and
Huntington’s often no symptoms show until the person is 30–40 years old

disease ▪ They begin to lose their ability to control movements and to

walk, talk or think clearly. The condition is fatal, with death
occurring within 15–20 years after symptoms first appear
▪ This faulty allele is dominant. There is therefore a one in two
chance that a person with a parent with the allele will inherit
the condition
▪ As the condition may not be noticed until the person is adult,
they may have had children before they knew of the
possibility of passing on Huntington’s
 The Le gene,
gibberellin and
stem elongation
How the Le / le ▪ The height of some plants is partly controlled by their genes.
For example, tallness in pea plants is affected by a gene with
gene and two alleles, Le and le
gibberellin are ▪ If the dominant allele, Le, is present, the plants can grow tall,
but plants homozygous for the recessive allele, le, always
involved in remain short
affecting the ▪ The dominant allele of this gene regulates the synthesis of the
last enzyme in a pathway that produces an active form of
height of plant gibberellin
stems ▪ Active gibberellin stimulates cell division and cell elongation in
the stem, so the plant grows tall
How the Le / le ▪ A recessive allele of this gene codes for a non-functional
enzyme
gene and ▪ Homozygous plants, lele, are genetically dwarf as they do not
gibberellin are have the active form of gibberellin
involved in
affecting the
height of plant
stems
How the Le / le ▪ DELLA proteins inhibit germination by inhibiting the binding of
a transcription factor, such a phytochrome interacting protein
gene and (PIF), to a gene promoter
gibberellin are ▪ Seeds absorb water which stimulates production of gibberellin
by the embryo
involved in ▪ Gibberellin causes breakdown of DELLA proteins, which allows
affecting the PIF to bind to its target promoter
height of plant
stems
How the Le / le ▪ This leads to transcription of mRNA coding for amylase in the
aleurone layer ;
gene and ▪ Amylase hydrolyses starch to maltose and maltose converted
gibberellin are to glucose
involved in ▪ Glucose respired by embryo during germination

affecting the
height of plant
stems
Gene control
 ▪ These code for non-regulatory or structural proteins (or
Structural polypeptides)
genes ▪ Structural genes code for proteins associated with rRNA or
tRNA
▪ They also code for proteins such as enzyme or structural
protein such collagen
▪ Examples of structural genes ; e.g., lac Z / lac Y / lac A which
code for enzymes
 ▪ These code for regulatory or non-structural proteins (or
Regulatory polypeptides)
genes ▪ These are genes that code for proteins that regulate the
expression of other genes
▪ They regulate gene expression by coding for transcription
factors that bind to the promoter or operator
▪ Examples of regulatory genes are; lac repressor, DELLA
repressor
 ▪ They are generally produced continuously
Repressible
▪ The synthesis of a repressible enzyme can be prevented by
enzymes binding a repressor protein to a specific site called an
operator or promoter
▪ e.g., enzyme involved in tryptophan synthesis
 ▪ The synthesis of an inducible enzyme occurs only when a
Inducible substrate is present
enzymes ▪ Transcription of the gene occurs as a result of the inducer
(enzyme’s substrate) interacting with the protein produced by
the regulatory gene
▪ e.g. β galactosidase / lactose permease / transacetylase
Gene control in
prokaryotes
 ▪ This is a length of DNA making up a unit of gene expression in a
Operon bacterium
▪ It is a functional unit of transcription; a cluster of genes that
are controlled by the same promoter
▪ It consists of one or more structural genes and also controls
regions of DNA that are recognised by the products of the
regulatory genes
 ▪ In the bacterium Escherichia coli, the number of molecules of
lac operon this enzyme present in a bacterium varies with the
concentration of lactose in the medium around the bacterium
▪ The lac operon consists of a cluster of three structural genes
and a length of DNA including on operator and promoter
regions
▪ The 3 structural genes are:
▪ lacZ – coding for β galactosidase
▪ lacY – coding permease (which allows lactose to enter
the cell)
▪ lacA – coding for transacteylase
 ▪ Transcription of all of these genes is controlled by the same
lac operon promoter, and they are all transcribed at the same time
▪ Close to the promoter, but not actually part of the operon is
its regulator gene
 ▪ The regulatory gene codes for a protein called a repressor
In the ▪ The repressor binds to the operator region close to the gene
absence of for β galactosidase
▪ When the repressor binds to the operator, RNA polymerase
lactose cannot bind to DNA at the promoter region
▪ No transcription of the three structural genes can take place
▪ The repressor protein is allosteric i.e., it has two binding sites
 ▪ Lactose is taken up by the bacterium
In the ▪ Lactose binds to the repressor protein, which changes shape
presence of ▪ The repressor protein with bound lactose breaks away from
the operator region
lactose ▪ The promoter region is now unblocked, so RNA polymerase
binds to the promoter region and the three structural genes
are transcribed and translated
 ▪ The enzymes produced are;
In the
presence of a) lactose permease for uptake of lactose from the
medium
lactose b) β-galactosidase for the breakdown of lactose into,
glucose and galactose

▪ This mechanism allows the bacterium to produce β-

galactosidase, permease and transacetylase only when lactose
is available in the medium round the cell
▪ It avoids the waste of energy and materials
▪ The enzyme β-galactosidase is an example of an inducible
enzyme
 ▪ These are proteins that bind to DNA and are involved in the
Transcription control of gene expression in eukaryotes by decreasing or
increasing the rate of transcription
factors