Chapter 16

A2 Level

Inherited Change
 Chapter Outline
4 Parts!
1. Meiosis
2. Mendelian Inheritance + Chi-squared test
3. More Patterns of Inheritance
4. Gene Control

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part I: Meiosis
• Meiosis
• Genetic variation due to
• Crossing over
• Random assortment of homologous
chromosomes
• Random fusion of gametes

• Role in gametogenesis in humans

• Role in formation of pollen grains and
embryo sacs in flowering plants

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part II: Mendelian Inheritance
• Monohybrid cross
• Dihybrid cross
• Test crosses

• P5: Chi-squared test

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part III: More Patterns of Inheritance
• Sex linkage
• Codominance
• Multiple alleles
• Epistasis
• Autosomal linkage

• Mutations
• Important examples of mutations: sickle cell anemia, albinism,
haemophilia, Huntington’s disease, cystic fibrosis

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part IV: Gene Control
• Structural vs regulatory genes
• Repressible vs inducible enzymes

• Prokaryotes: The lac operon

• Eukaryotes: Function of transcription factors in gene expression

• Gibberellin breaks down DELLA protein repressors to activate genes

Updated on 12/8/21 by Beh SJ @behlogy

 Important Terms
• Homologous chromosomes = A pair of chromosomes in
diploid cells. One inherited from mother, one from father.
Same size, same genes, but may have diff alleles.

• Sex chromosomes = X and Y chromosome

• Autosomes = All chromosomes except sex chromosomes

• Gene = a specific DNA seq that codes for polypeptide

• Sex-linked genes = genes on sex chromosome
• Autosomal-linked genes = genes on autosomes
• Linked genes = all genes on the same chromosome.
They are in a linkage group. Likely to be inherited
together. (Not the same with sex/autosomal-linked genes)

• Allele = a form of gene → result of mutation

• Locus (plural: loci) = position of gene on chromosome
Updated on 12/8/21 by Beh SJ @behlogy
 Important Terms
Diploid cells have two sets of chromosomes (2n)
= 2 copies of each gene = 2 alleles
• 1 maternal, 1 paternal
• Somatic cells = all cells except for gametes
m p
• In humans: 2n = 46 m p
→ Result of mitosis m p

Haploid cells have only one set of chromosomes (n)

= Only one copy of each gene = 1 allele
• Gametes / germ cells
• In humans: n = 23
→ Result of meiosis

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter 16
A2 Level
Inherited Change
Part 1: Meiosis
 Chapter Outline
Part I: Meiosis
• Meiosis
• Genetic variation due to
• Crossing over
• Random assortment of homologous
chromosomes
• Random fusion of gametes

• Role in gametogenesis in humans

• Role in formation of pollen grains and
embryo sacs in flowering plants

Updated on 12/8/21 by Beh SJ @behlogy

 Meiosis
• Aka reduction division
• Before fertilisation in sexual
reproduction

Importance of meiosis:
• To produce gametes / sex cells with
half the no. of chromosomes
• Maintain the diploid no. of
chromosomes in each generation

• To produce genetic variation in offspring

Updated on 12/8/21 by Beh SJ @behlogy

 Meiosis

2n

2n

Updated on 12/8/21 by Beh SJ @behlogy

Stages in Meiosis

Updated on 12/8/21 by Beh SJ @behlogy

Prophase I
• Condensation of chromatin/chromosome
• Centrosomes move to opposite poles
• Nuclear envelope breaks down
• Nucleolus disappears
• Spindle fibres form
→ Start attaching to centromere and pull

• Synapsis occurs
→ Process where homologous chromosomes pair up
→ Each pair is called a bivalent/tetrad

• Crossing over takes place between non-sister chromatids

→ At chiasmata (singular: chiasma)
→ Result in exchange of genetic material
Updated on 12/8/21 by Beh SJ @behlogy
Prophase I: Crossing over
• During synapsis, homologous chromosomes
coil around each other intimately
• Remain in contact at chiasmata
• Site of crossing over: chiasma

• Part of chromatids break

• Reconnect to another non-sister chromatid

Result in:
→ Exchange of genetic material [NOT genes]
→ Linkage groups broken / linked genes on
same chromosome are separated
→ New combination of alleles within each
chromosome
→ Genetic variation Updated on 12/8/21 by Beh SJ @behlogy
Metaphase I
• Centrosomes reach opposite poles
• Spindle fibres are fully formed
→ Attached to chromosomes at centromeres

• Bivalents / tetrads line up across equator /

metaphase plate
→ Chromosomes line up in pairs

• Independent assortment of homologous

chromosome pairs occurs
→ Each pair lines up independently of others
on equator
→ E.g. could be red-blue, or blue-red
→ Results in gametes that are genetically
unique Updated on 12/8/21 by Beh SJ @behlogy
Anaphase I
• Spindle microtubules shorten

• Homologous chromosomes separate

→ Chromosomes of each pair pulled to
opposite poles
→ with centromeres leading towards poles

• Centromeres DO NOT divide

Updated on 12/8/21 by Beh SJ @behlogy

Telophase I & Cytokinesis
• Chromosomes reach the poles

• Chromosome partially decondenses

• Nucleolus reforms
• Nuclear envelope reassembles
• Spindle fibres breaks down

• Cytokinesis occurs

• Number of chromosomes in each daughter cell

are now halved
→ 2 haploid cells formed

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 5 Recap
Cytokinesis
• Division of the cell’s cytoplasm

In animal cells:
• Cell membrane drawn together
→ By contractile ring of microfilaments
→ Forms a cleavage furrow
→ Creating a drawstring effect

• Cell membrane fuses

• To divide cell into two
• Organelles are shared out

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 5 Recap

Cytokinesis
In plants:
• Vesicles transported to equator
→ To form cell plate at equator
• Cell wall laid down

• So cytoplasm divided into two

• Organelles are shared out

Updated on 12/8/21 by Beh SJ @behlogy

 Brief interphase between
Meiosis I and Meiosis II
• Called interphase II / interkinesis
• Growth
• Synthesis of protein & other
substances
• No DNA replication

• Plant cells go straight into meiosis II

• No reformation of nucleolus and
nuclear envelope

Updated on 12/8/21 by Beh SJ @behlogy

Prophase II
P/S: Meiosis ll is just like mitosis!

• Condensation of chromatin

• Spindle fibres form

→ Start attaching to centromere
• Centrosomes move to opposite poles
• Nuclear envelope breaks down
• Nucleolus breaks down

Updated on 12/8/21 by Beh SJ @behlogy

 Metaphase II
• Centrosomes reach opposite poles
• Spindle fibres are fully formed

• Chromosomes line up at the metaphase

plate / equator
• At right angles to first equator

• Chromosomes attached to spindle fibres at

centromere / kinetochore

• Independent assortment of sister

chromatids occurs

Updated on 12/8/21 by Beh SJ @behlogy

Anaphase II
• Centromere of each chromosome divides
• Sister chromatids split at the centromere

• Spindle microtubules shorten

• Chromatids pulled to opposite poles

→ with centromeres leading towards poles

Updated on 12/8/21 by Beh SJ @behlogy

Telophase II & Cytokinesis
• Chromatids reach the poles
• Chromosomes decondense
→ Become long and thin

• Nucleolus reforms
• Nuclear envelope reassembles
• Spindle fibres breaks down

• Cytokinesis occurs

→ 4 haploid cells formed

Updated on 12/8/21 by Beh SJ @behlogy

Updated on 12/8/21 by Beh SJ @behlogy
How does meiosis cause genetic variation?
1. Crossing over @ Prophase I

• Between non-sister chromatids

of homologous chromosomes
• At chiasma

→ Exchange of genetic material [NOT genes]

→ Linkage groups broken / linked genes on
same chromosome are separated
→ New combination of alleles within each
chromosome
→ Genetic variation

Updated on 12/8/21 by Beh SJ @behlogy

How does meiosis cause genetic variation?
2. Random / Independent Assortment of Homologous Chromosomes
@ Metaphase I

• Each pair lines up independently of others on equator

• Possible combinations = 2n
→ Results in gametes that are genetically unique

Updated on 12/8/21 by Beh SJ @behlogy

How does meiosis cause genetic variation?
3. Independent assortment of chromatids @ Metaphase II

Updated on 12/8/21 by Beh SJ @behlogy

How does meiosis cause genetic variation?
4. Possible chromosome mutation
• Faulty meiosis may cause changes to chromosome number or
structure → New alleles

P/S: Besides meiosis, fertilisation

can also cause genetic variation!
This is due to:
1. Random mating
2. Random fusion of gametes

Updated on 12/8/21 by Beh SJ @behlogy

 Role of meiosis in
gametogenesis in humans
• Somatic cells are diploid (2n)
• Gametes are haploid (n)
→ Half the number of chromosomes
→ Formed by meiosis in testes/ovaries

• Oogenesis = production of female gametes

• Spermatogenesis = production of male gametes

Updated on 12/8/21 by Beh SJ @behlogy

Oogenesis
Embryo → 6m after birth: P/S: ~400 000 primary oocytes
produced at birth (and that’s it!)

Arrested at Prophase I until puberty

Monthly after puberty, ONE continues to

divide from Prophase I until end of Meiosis I

Ovulation
Only if fertilised
completes Meiosis II

Updated on 12/8/21 by Beh SJ @behlogy

Spermatogenesis At puberty (~11-15yo) and throughout lifetime:
100 - 200 mil produced daily
germinal epithelial cells
divide by mitosis

spermatogonia
grow larger
primary spermatocyte
meiosis I
secondary spermatocyte
meiosis II

spermatids
maturation and
differentiation

spermatozoa
(aka sperm)
Updated on 12/8/21 by Beh SJ @behlogy
 Spermatogenesis vs Oogenesis
Spermatogenesis Oogenesis

Begins at puberty Begins before birth

4 spermatids / spermatozoa 1 ovum produced

produced
Meiosis is a continuous process /
Meiosis is interrupted
not interrupted
Greater number of gametes Smaller number of gametes
produced in males produced
Males can produce gametes to a
Females only till menopause
greater age

Updated on 12/8/21 by Beh SJ @behlogy

 Role of meiosis in formation of pollen
grains and embryo sacs in flowering plants
In plants, gametes are formed by meiosis AND mitosis

Inside anthers:
• Formation of pollen grain
• Male gamete formed
in pollen grain
• From pollen mother cells

Inside ovule:
• Formation of embryo sac
• Female gamete formed
in embryo sac
• From spore mother cells
Updated on 12/8/21 by Beh SJ @behlogy
 Pollen grain formation @ anthers
Pollen mother cell (2n)
→ Divide by meiosis
→ Form 4 haploid cells

→ Nuclei of haploid cell divide by

mitosis
→ But cell does not divide /
no cytokinesis
→ Result in cells that contain
2 haploid nuclei

→ Mature into pollen grains

with protective wall

Updated on 12/8/21 by Beh SJ @behlogy

 Formation of embryo sacs @ ovules
Spore mother cell (2n)
→ Divide by meiosis
→ Form 4 haploid cells
→ 3 haploid cells degenerate

→ Nuclei of 1 haploid cell divide by

mitosis 3 TIMES
→ But cell does not divide /
no cytokinesis
→ Cell grows larger
→ Result in a cell that contain
8 haploid nuclei
→ 1 of them is the female gamete/egg cell

→ Develops into embryo sac

Updated on 12/8/21 by Beh SJ @behlogy
 Chapter Outline
Part I: Meiosis
• Meiosis
• Genetic variation due to
• Crossing over
• Random assortment of homologous
chromosomes
• Random fusion of gametes

• Role in gametogenesis in humans

• Role in formation of pollen grains and
embryo sacs in flowering plants

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter 16
A2 Level

Inherited
Change
Part 2: Mendelian
Inheritance
 Chapter Outline
Part II: Mendelian Inheritance
• Monohybrid cross
• Dihybrid cross
• Test crosses

• P5: Chi-squared test

Updated on 12/8/21 by Beh SJ @behlogy

 Important Terms
• Genotype = the alleles possessed by an organism
• Phenotype = the observable characteristics of an organism
→ Can be influenced by genotype, environment

Genotype
• Gene = a specific DNA seq that codes for polypeptide
• Represented by same alphabet (e.g. B and b = same gene, different allele)
• Gene short form name is usually in italics, whereas gene full name and protein is not
italicized (e.g. HBB = haemoglobin beta gene → codes for beta globin protein)

• Allele = a form of gene → result of mutation

• Dominant allele represented by capital letter and always placed in front (e.g. B)
• Recessive allele represented by small letter and always placed behind (e.g. b)

Updated on 12/8/21 by Beh SJ @behlogy

 Important Terms
Diploid cells: 2 sets of chromosomes, so 2 alleles
• Homozygous = Have two identical alleles of a gene
• Can be homozygous dominant (e.g. BB) OR homozygous recessive (e.g. bb)
• Heterozygous = Have two different alleles of a gene (e.g. Bb, NEVER bB)

Dominant allele
• Expressed in the phenotype even when only one copy of the allele is present
• Expressed in heterozygotes and homozygote for the allele (e.g. Bb and BB)

Recessive allele
• Expressed in the phenotype only when two copies of the allele are present
• Expressed only in a homozygote for the allele (e.g. bb)

Updated on 12/8/21 by Beh SJ @behlogy

 Important Terms
E.g. Let B = allele for brown hair; b = allele for blonde hair

Genotype Phenotype
BB (homozygous dominant) Brown hair
Bb (heterozygous) Brown hair
bb (homozygous recessive) Blond hair

P/S: Sometimes, symbols could be written this way too….

Hb = haemoglobin gene I = ABO gene for blood group
HbA = normal allele IA = A alelle
HbS = sickle allele IB = B alelle
i = O allele
X = gene on X chromosome
X+ = normal allele vg = vestigial gene in flies
X- = recessive allele vg+ = wild-type allele (normal, long wings)
vg = mutant vestigial wings allele
Updated on 12/8/21 by Beh SJ @behlogy
Mendelian Genetics
• Gregor Mendel = father of modern genetics
• Didn’t even know about chromosomes and
genes yet!

• Planted over 28,000 plants in 8 years

(1856-1863) …mostly peas
• Studied inheritance in pea plants by observing
contrasting traits in pea plants
→ E.g. yellow/green pea pods; round/crinkled
seeds; tall/short plants etc.

• Two main experiments:

1) Monohybrid cross
2) Dihybrid cross

Updated on 12/8/21 by Beh SJ @behlogy

Monohybrid inheritance
• Trait is controlled by 1 gene

• Mendel crossed a purebred tall

pea plant and a purebred short
pea plant. Both are homozygous.
• This is the parental (P) generation

• All resulting offspring in the F1

generation is tall
• Crossed offspring in F1 with each
other (self-fertilisation)

• In the resulting F2, he obtained

787 tall and 277 short pea plants
• Approx. a ratio of 3:1
Updated on 12/8/21 by Beh SJ @behlogy
 We can represent genetic crosses using a genetic diagram...
Every genetic diagram must have:
Don’t forget the x
Let T = allele for tall plant; t = allele for short plant

1 x
PARENTAL PHENOTYPES Tall Short
2 PARENTAL GENOTYPES TT tt

3 GAMETES T T t t

4 OFFSPRING (F1) GENOTYPE You must

GAMETES t circle gametes
AND PHENOTYPE

T Tt
You MUST draw a
Punnett Square tall

5 PROBABILITY/RATIO All plants are tall.

Depends on what the Probability of getting a tall plant = 1
question wants Updated on 12/8/21 by Beh SJ @behlogy
 F1 PHENOTYPES Tall x Tall
F1 GENOTYPES Tt Tt

GAMETES T t T t

F2 GENOTYPES AND
PHENOTYPE GAMETES T t

T TT Tt
tall tall
Tt tt
t
tall short

PROBABILITY/RATIO Ratio of tall:short plants is 3:1

Probability of getting a tall plant= ¾
Probability of getting a short plant = ¼
Updated on 12/8/21 by Beh SJ @behlogy
He also found the approx. the same ratio in all 7 traits he studied!
Why isn’t it exactly 3:1 for everything?

Updated on 12/8/21 by Beh SJ @behlogy

You found a tall pea plant. How to determine if its genotype is TT or Tt?

Test Cross!
• Test cross = method to determine exact genotype of a dominant
phenotype organism
→ Is it homozygous dominant or heterozygous for the gene?
→ Cross with individual homozygous recessive for the gene
→ Aka a short plant (tt)

If the tall plant is TT : GAMETES T

• TT x tt
Tt
t
→ All offspring will be tall (Tt) tall

If tall plant is Tt:

• Tt x tt GAMETES T t

→ Offspring can be either tall (Tt) t

Tt tt
tall short
or short (tt)
Updated on 12/8/21 by Beh SJ @behlogy
 Example Question
In dalmatian dogs, the spots’ colour is determined by
a gene which has two alleles. Black spot allele is
dominant while brown spot allele is recessive.

A breeder wanted to know the exact genotype of her

black spot dog. She crossed her with another brown
spot dog & the puppies produced, all showed black
spots. The breeder did this for multiple times and the
same results were produced.

What is the dog’s genotype?

Explain your answer by drawing genetic diagrams.

Updated on 12/8/21 by Beh SJ @behlogy

 Important Terms
• Purebred = A cross of same purebred organisms always produce
offspring with same genotype. Homozygous individuals.

• Parental (P) generation = initial generation

• F1 generation = stands for first filial generation / first set of offspring.

Result of crossing 2 different purebreds (i.e. 2 homozygotes of different
phenotype.). F1 offspring are all heterozygotes.

• F2 generation = offspring result of self-pollination of F1 plants OR

cross of 2 heterozygotes.

• Test cross = method to determine exact genotype of a dominant

phenotype organism. Cross with individual homozygous recessive for
the gene(s).
Updated on 12/8/21 by Beh SJ @behlogy
Dihybrid Inheritance
• Involves the crosses of two genes at once
→ 2 genes are on different chromosomes
→ 2 alleles each
→ Code for different traits

E.g. Gene for tall/short plants & gene for purple/white flowers

Updated on 12/8/21 by Beh SJ @behlogy

Let T= allele for tall; t = allele for short;
P = allele for purple flower; p = allele for white flowers;

PARENTAL PHENOTYPES Tall, purple flowers x Short, white flowers

PARENTAL GENOTYPES TTPP ttpp (Diploid)

Meiosis
GAMETES TP tp (Haploid)

F1 GENOTYPES AND GAMETES tp

PHENOTYPES

TP TtPp
tall, purple flowers

PROBABILITY/RATIO All plants are tall and have purple flowers.

Probability of tall and purple = 1

Updated on 12/8/21 by Beh SJ @behlogy

Let T= allele for tall; t = allele for short;
P = allele for purple flower; p = allele for white flowers;

F1 PHENOTYPES Tall, purple flowers x Tall, purple flowers

F1 GENOTYPES TtPp TtPp

GAMETES TP Tp tP tp TP Tp tP tp

F2 GENOTYPES
AND PHENOTYPES GAMETES TP Tp tP tp

TP
Arrange with dominant
gametes first to make
your life easier Tp

tP

tp
Updated on 12/8/21 by Beh SJ @behlogy
 Note: 9:3:3:1 ratio is only produced when 2 heterozygotes
F2 GENOTYPES AND PHENOTYPES for 2 genes are crossed. AND triangle trick only works if
you arranged gametes properly

GAMETES TP Tp tP tp

TP TTPP TTPp TtPP TtPp

Tall, purple Tall, purple Tall, purple Tall, purple
flowers flowers flowers flowers

Tp TTPp TTpp TtPp Ttpp

Tall, purple Tall, white Tall, purple Tall, white
flowers flowers flowers flowers

tP TtPP TtPp ttPP ttPp

Tall, purple Tall, purple Short, purple Short, purple
flowers flowers flowers flowers

tp TtPp Ttpp ttPp ttpp

Tall, purple Tall, white Short, purple Short, white
flowers flowers flowers flowers

PROBABILITY Tall, purple flowers: 9/16 Tall, white flowers: 3/16

Short, purple flowers: 3/16 Short, white
Updated flowers:
on 12/8/21 by Beh 1/16
SJ @behlogy
 Mendelian Genetics
• His experiments proved 3 laws in his paper published in 1866

Law Definition

During gamete formation, the alleles for each gene

Law of segregation segregate from each other (during anaphase I) so that
each gamete carries only one allele for each gene.

Each pair lines up independently of others on equator

Law of independent (during metaphase I). Genes for different traits can or
assortment segregate independently during the formation of
gametes.

Some alleles are dominant while others are recessive;

Law of dominance an organism with at least one dominant allele will
display the effect of the dominant allele.

Updated on 12/8/21 by Beh SJ @behlogy

 Example Question
• In a pea plant, the inheritance of its pea
shape and colour is controlled by two genes.

• Dominant shape is round (R), while recessive

is crinkled (r).
• Dominant colour is yellow (Y), while
recessive is green (y).

• What are the genotypes of the offspring

when two heterozygous parents for both
traits cross?

Updated on 12/8/21 by Beh SJ @behlogy

 Example Question

• What is the probability of getting an

offspring with round shape and yellow
colour when a plant with heterozygous for
both traits and a plant which is homozygous
recessive for both traits cross?

• Draw a genetic diagram to show the

outcomes with its probability.

Updated on 12/8/21 by Beh SJ @behlogy

You found a tall, purple flower pea plant. How to determine its genotype?

Test Cross!
• Test cross = method to determine exact genotype of a dominant
phenotype organism
→ Cross with individual homozygous recessive for both genes
→ E.g. short, white plant (ttpp)
→ Different ratios of diff phenotypes in offspring will reveal the genotype

• Possible genotypes for tall, purple flower plant = TTPP, TtPp, TTPp, TtPP

If its genotype is TTPP…

• TTPP x ttpp
GAMETES TP
• All offspring will be tall, have purple flowers
TtPp
tp
Tall, purple

Updated on 12/8/21 by Beh SJ @behlogy

 Test Cross!
If its genotype is TtPp…
GAMETES
• TtPp x ttpp
tp
• Ratio = 1:1:1:1

If its genotype is TTPp…

• TTPp x ttpp GAMETES

• All offspring will be tall

tp
• 50% white, 50% purple

If its genotype is TtPP…

GAMETES
• TtPP x ttpp
tp
• All offspring will have purple flowers
• 50% tall, 50% short
Updated on 12/8/21 by Beh SJ @behlogy
 What if 3 genes are involved?
Using the same method and understanding, we should be able to predict the genetic
outcome of this cross below:
Let T= allele for tall; t = allele for short;
P = allele for purple flower; p = allele for white flowers;
R = allele for round pea; r = allele for crinkled pea

PARENTAL PHENOTYPES Tall, purple, round x Tall, white, crinkled

PARENTAL GENOTYPES TtPPRr TTpprr

GAMETES TPr tPR tPr Tpr

TPR

OFFSPRING GENOTYPES
GAMETES TPR TPr tPR tPr
AND PHENOTYPE

TTPpRr TTPprr TtPpRr TtPprr

Tpr Tall, purple, Tall, purple, Tall, purple, Tall, purple,
round crinkled round crinkled

RATIO All are tall and have purple flowers

50% round, 50% crinkled
1 : Updated
1 on 12/8/21 by Beh SJ @behlogy
 P5

P5: Chi-Squared Test

(X2 Test)
 P5

4 Statistical Tests to Learn!

1) t-test
To test for significance
of difference
2) Chi-squared

3) Pearson’s linear correlation

To test for correlation
4) Spearman’s rank correlation

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Introduction to Statistics in Biology

Types of data:

1) Qualitative data
• Can be nominal = categoric
OR ordinal = placed in an order or rank

2) Quantitative data:
• Can be continuous OR
discontinuous/discrete

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Introduction to Statistics in Biology

Types of distributions:

1) Normal distribution
• Continuous data
• Bell-shaped curve
• E.g. mass, height

2) Discontinuous distribution
• Not normally distributed
• E.g. categories, discrete data

Type of data/distribution will influence

what stats test can be used
Updated on 12/8/21 by Beh SJ @behlogy
 P5

Null Hypothesis

• Statement to assume
• No significant difference
• Between two sets of results/data

• Differences present:-
→ Not significant
→ Due to random error or chance
→ Can be ignored

E.g. There is no significant difference… between data set A and data set B.

https://www.youtube.com/watch?v=i60wwZDA1CI

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Chi-squared Test, X2
• To show if the observed results are significantly different from the
expected results

Only can be used if:

• Discrete data / nominal data
• Discontinuous distribution

To test the results of:

a) Breeding experiments
b) Ecological sampling

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Chi-squared Test, X2

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #1
• In a pea plant, the inheritance of its pea
shape and colour is controlled by two
genes.

• Dominant shape is round (R), while

recessive is crinkled (r). Dominant colour
is yellow (Y), while recessive is green (y).

What are the genotype’s ratio of the

offspring when two heterozygous parents
for both traits cross?
→ 9:3:3:1

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #1
If there are a total of 144 offspring produced,
the expected offspring number for each type
would be:-

• Round, yellow – 81
• Round, green – 27
• Crinkled, yellow – 27
• Crinkled, green – 9

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #1
When a cross was done in the lab and the actual
number of offspring for each type observed was:-

• Round, yellow – 88
• Round, green – 25
• Crinkled, yellow – 28
• Crinkled, green – 3

a) Write the null hypothesis for this experiment.

→ There is no significant difference between the
observed and expected results.
b) Find out if there is a significant difference
between observed and expected results.
→ X2 test

Updated on 12/8/21 by Beh SJ @behlogy

 P5

O E (O-E) (O-E)^2 (O-E)^2 / E

88 81 7

25 27 2

28 27 1

3 9 6

X2 4.790

Updated on 12/8/21 by Beh SJ @behlogy

 X2
P5
How to use the table to determine
significance of difference?
1) Calculate value of X2 test

2) Look for critical value at p = 0.05

3) Degrees of freedom, v = c-1

(number of classes minus 1)

4) Check if value of X2 calculated is higher or lower compared to critical

value in X2 table

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Chi-squared Table
DoF = (n-1) Dependent 5% probability that
on number of categories differences are not
In this case, 4-1 = 3 significant/due to chance

4.790

Calculated chi-squared value < critical value, critical

then there is no sig. diff. btwn observed and expected. value
at p=0.05
Updated on 12/8/21 by Beh SJ @behlogy
 P5
Making Conclusions from Chi-squared test

1) If chi squared-test value calculated is higher than value in table:-

• Significant difference in results
• Reject null hypothesis
→ Differences are NOT due to random error/chance

2) If chi squared-test value calculated is lower than value in table:-

• No significant difference in results
• Accept null hypothesis
→ Differences are due to random error/chance

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Making Conclusions from Chi-squared test

• Using our example, X2 value is 4.790

• The degree of freedom, v = 3
• The critical value at p = 0.05 is 7.81
• So the probability of the difference occuring by chance is > 0.05 (5%)
• Null hypothesis is accepted
• There is no sig. diff. btwn the observed and expected results

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Chi-squared Test

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #2
Round – R Yellow - Y
Crinkled – r Green – y

What is the ratio of offsprings’ phenotypes

when a plant with heterozygous for both
traits and a plant which is homozygous
recessive for both traits cross?

a) Draw a genetic diagram to show the

expected outcomes with its ratio.

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #2
b) If the total number of offspring produced is 124,
and the following numbers are actually observed:-
Round, yellow – 28
Round, green – 23
Crinkled, yellow – 35
Crinkled, green – 38

i) Write the null hypothesis.

ii) Find out if there is any significant difference
between expected and observed results.

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Chi-squared Table

Updated on 12/8/21 by Beh SJ @behlogy

Example #3 P5

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Updated on 12/8/21 by Beh SJ @behlogy

 P5

Example #3

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part II: Mendelian Inheritance
• Monohybrid cross
• Dihybrid cross
• Test crosses

• P5: Chi-squared test

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter 16
A2 Level
Inherited Change
Part 3: More Patterns of Inheritance
 Chapter Outline
Part III: More Patterns of Inheritance
• Sex linkage
• Codominance
• Multiple alleles
• Epistasis
• Autosomal linkage

• Mutations
• Important examples of mutations: sickle cell anemia, albinism,
haemophilia, Huntington’s disease, cystic fibrosis

Updated on 12/8/21 by Beh SJ @behlogy

But okay, it doesn’t work the same with all alleles and all phenotypes.

What if….
• there are sex chromosomes involved? → sex-linked
• it’s NOT exactly recessive/dominant? → codominance
• more than 2 alleles are involved? → multiple alleles
• the expression of some genes affect other genes? → epistasis
• the genes are on the same chromosome? → autosomal linkage

Updated on 12/8/21 by Beh SJ @behlogy

Sex-Linkage
• Sex-linkage = Allele / gene carried on the sex chromosomes
• Usually X chromosome

• Y chromosome is shorter than X

→ Carries fewer genes than X
→ Do not have the same genes in the same loci
→ Some different genes from X
→ Some genes exist as a single copy only either on X or Y
chromosome = hemizygous

Types of sex-linked inheritance patterns:

• X-linked recessive
• X-linked dominant
• Y-linked (not in syllabus)

Updated on 12/8/21 by Beh SJ @behlogy

 X-linked Recessive
• Phenotype determined by recessive allele on X
• Phenotype will be expressed if there are no dominant alleles of the same
gene present
• I.e. in females with both recessive alleles on X, or males with
one recessive allele on X

• To show genotypes for sex-linked genes:

a) Use symbols for gender (XX, XY)
b) Write alleles as superscripts

E.g. gene for eye colour in flies is on the X chromosome

• XR = dominant allele for red eyes
• Xr = recessive allele for white eyes
• Possible genotypes:
XR Xr Xr Xr XR XR XR Y Xr Y
Updated on 12/8/21 by Beh SJ @behlogy
X-linked Recessive
• So…when a white-eyed
male is crossed with a red-
eyed female, all F1 fruit
flies have red eyes
XR XR Xr Y

• When F1 is crossed, 75% of

F2 have red-eyes and 25%
have white-eyes
• AND all white-eyes are
male XR Xr XR Y

• How is this so? Draw

Punnett squares to prove
that the ratio shown is
correct!
XR XR XR Y Xr Y
Updated on 12/8/21 by Beh SJ @behlogy
 X-linked Dominant
• Phenotype determined by dominant
allele on X
• Phenotype is shown in homozygous
dominant and heterozygous
females, and males with the
dominant allele

• Affected males will not pass the

dominant allele on X to sons (since
sons must inherit Y)
• But will pass it on to daughters
(daughters must inherit one X from
mum and one X from dad)

Updated on 12/8/21 by Beh SJ @behlogy

 X-linked Dominant
• In a pedigree diagram…
is female
is male
and is affected

• Is Female 1 homozygous or
heterozygous for the allele?
Explain why.

• Why are all females in generation

3 affected?

Updated on 12/8/21 by Beh SJ @behlogy

Updated on 12/8/21 by Beh SJ @behlogy
 Codominance
• Codominance = when both alleles are fully expressed in the heterozygote
• More than 2 phenotypes possible
• Phenotype of heterozygote different from either homozygote
• When 2 heterozygotes (F1) are crossed,
the resulting phenotype is in a 1:2:1 ratio

E.g. shorthorn cattle (cows)

• Cows that are heterozygotes have both red and white fur = roan coats

• CR = allele for red; CW = allele for white

• Note: we don’t use Rr because it’s not
dominant/recessive, it’s COdominant

Updated on 12/8/21 by Beh SJ @behlogy

 Codominance in Shorthorn Cattle
Let CR = allele for red; CW = allele for white

PARENTAL PHENOTYPES Red cow x White bull

PARENTAL GENOTYPES C R CR CW CW

GAMETES CR CR CW CW

OFFSPRING (F1)
GENOTYPES GAMETES CW

CR CR CW

OFFSPRING (F1)
PHENOTYPES All resulting shorthorn cattle have roan coats
Updated on 12/8/21 by Beh SJ @behlogy
 Codominance in Shorthorn Cattle
Let CR = allele for red; CW = allele for white

F1 PHENOTYPES Roan bull x Roan cow

F1 GENOTYPES CR CW CR CW

GAMETES CR CW CR CW

OFFSPRING (F2)
GENOTYPES GAMETES CR CW

CR CR CR CR CW

CW CW CR CW CW

OFFSPRING (F2)
PHENOTYPES Ratio of red:roan:white coats are 1:2:1
Updated on 12/8/21 by Beh SJ @behlogy
 Multiple Alleles
• Genes with more than 2 alleles

E.g. ABO gene for human blood groups

• IA = A alelle
codominant
• IB = B alelle
• i = O allele recessive to IA and IB

List the possible genotypes for each blood group

Blood group (Phenotype) Genotype
A
B
AB
O
Updated on 12/8/21 by Beh SJ @behlogy
 Example Question
E.g. Fur colour in rabbits

Draw a genetic diagram to show a cross between rabbits with genotype

Cch and cchc. What’s the probability of obtaining a chinchilla rabbit?

Updated on 12/8/21 by Beh SJ @behlogy

 Epistasis
• When different genes at diff loci
• Interact to affect ONE phenotype

E.g. Feather colour in chickens

• Individuals with dominant allele, I, have white
feathers even if dominant allele, C, for
coloured feathers is present
• Only individuals that are homozygous
recessive for i and have at least one dominant
allele , C, for coloured feathers, will be
coloured

IICC = white
iiCC / iiCc = coloured
iicc = white
Updated on 12/8/21 by Beh SJ @behlogy
PARENTAL PHENOTYPES white x white

PARENTAL GENOTYPES IICC iicc

GAMETES IC ic

F1 GENOTYPES GAMETES ic

IC IiCc

F1 PHENOTYPES All chickens are white.

Updated on 12/8/21 by Beh SJ @behlogy

 F1 PHENOTYPES white x white

F1 GENOTYPES IiCc IiCc

GAMETES IC Ic iC ic IC Ic iC ic

F2 GENOTYPES
AND PHENOTYPES GAMETES IC Ic iC ic

IC

Ic

iC

ic
Updated on 12/8/21 by Beh SJ @behlogy
F2 GENOTYPES AND PHENOTYPES

GAMETES IC Ic iC ic

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

white:coloured = 13:3
RATIO and PROBABILITY
P (white) = (9+3+1)/16 P (coloured) Updated
= 3/16on 12/8/21 by Beh SJ @behlogy
 Example Question
• A pure-bred, pink flower variety of Salvia was crossed with a pure-
bred, white-flowered variety. The offspring had purple flowers.
• Interbreeding these offspring to give another generation resulted in
purple, pink and white-flowered plants in a ratio of 9:3:4
• Two loci, A/a and B/b, on diff chromosomes are involved:

• Draw a genetic diagram of the Salvia cross described above to show

the 9:3:4 ratio in the 2nd generation.

Updated on 12/8/21 by Beh SJ @behlogy

 Autosomal Linkage
• Linked genes = 2 genes are on the same chromosome
→ They are in an autosomal linkage group
(not to be confused with sex/autosomal-linked genes!)
→ Likely to be inherited together
→ No independent assortment
→ No separation during anaphase

• The closer the loci are tgr, the lower the chance of crossing over

(lower chance (higher chance

of crossing over) of crossing over) Updated on 12/8/21 by Beh SJ @behlogy
 Autosomal Linkage
E.g. body colour and antennal shape of the fruit fly, Drosophila
• The gene for body colour and the gene for antennal shape are close
together on the same chromosome and so are linked.

Body colour gene:

• E = allele for striped body
• e = allele for ebony body

Antennal shape gene:

• A = allele for normal antennae
• a = allele for aristopedia antennae
(looks more like a leg)

*We will use brackets in gentotypes

(EA)(EA) to show they are on the same
chromosome. EEAA without brackets
indicates that they are on diff chromsomes. Updated on 12/8/21 by Beh SJ @behlogy
 Striped body, Ebony body,
x
PARENTAL PHENOTYPES Normal antennae Aristopedia antennae

PARENTAL GENOTYPES (EA)(EA) (ea)(ea)

GAMETES EA ea

F1 GENOTYPES
GAMETES ea

EA (EA)(ea)

F1 PHENOTYPES All Drosophila have striped bodies and normal

antennae.
F1 looks normal… But how about F2?
Draw a genetic diagram to show F2
Updated on 12/8/21 by Beh SJ @behlogy
How to determine whether the 2 genes are linked or just normal dihybrid?

Test Cross
Cross an individual heterozygous for both genes (EA)(ea) with a
homozygous recessive individual (ea)(ea)
Striped body, Ebony body,
F1 PHENOTYPES Normal antennae x Aristopedia antennae

F1 GENOTYPES (EA)(ea) (ea)(ea)

GAMETES EA ea ea
F2 GENOTYPES
AND PHENOTYPES GAMETES EA ea

(EA)(ea) (ea)(ea)
ea Striped body, Ebony body,
Normal antennae Aristopedia antennae

RATIO 1 : 1
Updated on 12/8/21 by Beh SJ @behlogy
 Autosomal Linkage
• A test cross of (EA)(ea) with (ea)(ea)
• Would give a 1 : 1 ratio
• Not the 1 : 1 : 1 : 1 ratio expected from a dihybrid cross

• BUT getting a 1:1 ratio is rare

• 1:1 ratio = total linkage
• Linked genes can be separated by rare cross over events during prophase I
• The closer the loci are tgr, the lower the chance of crossing over
• Test cross would typically result in:

Updated on 12/8/21 by Beh SJ @behlogy

 Autosomal Linkage: Cross Over Value
• Cross over value = measure of distance btwn 2 gene loci on chromosomes
• This is the percentage that belong to the recombinant class
i.e. 6% + 6% = 12% in this case

• The smaller the cross over value, the closer the loci are together
• The closer the loci are tgr, the lower the chance of crossing over

Updated on 12/8/21 by Beh SJ @behlogy

 Summary
Pattern of inheritance What is it? F2 ratio

Monohybrid 1 gene, 2 alleles 3:1

2 gene on diff chromosomes,

Dihybrid 9:3:3:1
2 alleles each
Gene on X chromosome, Depends whether allele is
X-linked
absent on Y recessive or dominant
1 gene, 2 alleles, both fully
Codominance 1:2:1
expressed in heterozygotes
Depends which alleles
Multiple alleles 1 gene, >2 alleles
are involved
2 genes, both influence 1 Depends on the gene and
Epistasis
phenotype only organism
2 genes on same Depends which alleles are on
Autosomal Linkage
chromosome the same chromosome

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 6 Recap
Gene Mutations
• Caused by mutagens (e.g. ionizing
radiation, UV radiation, mustard gas)

• Mutations = random change in the

DNA sequence during DNA replication
→ Causes altered codons in mRNA seq
→ May alter amino acid seq of
polypeptide chain

• Can result in new alleles

• Alleles = diff forms of one gene
→ Affects phenotype (appearance/trait)
of organism

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 6 Recap
Gene Mutations
Types of gene mutations:
• Substitution
• Insertion/Addition
• Deletion

• The simplest form of mutation involves

only a change of one nucleotide
→ Point mutations / base mutations

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 6 Recap
Base substitution
• Only one nucleotide is replaced by another

Can result in one of 3 types of mutations:

1. Silent mutation
= triplet code / codon still codes for the same amino acid
2. Nonsense mutation
= stop codon is introduced
3. Missense mutation
= triplet code / codon codes for a different amino acid

Updated on 12/8/21 by Beh SJ @behlogy

Chap 6 Recap
Base substitution

Result in STOP codon

Triplet code changed Premature chain Only one amino acid of
but amino acid seq is termination the polypeptide seq is
unaffected Subsequent amino affected
acids are not formed
Incomplete, non- If amino acid has side chain
Normal, functional functional with different property,
polypeptide tertiary structure is more
protein
affected.

Faulty protein, may be

still functional
Updated on 12/8/21 by Beh SJ @behlogy
 Chap 6 Recap

Base Insertion + Base Deletion

• Results in one of 2 types of mutations:
1. Frameshift mutations
• Deleting/inserting one nucleotide of DNA will change which bases are
read together
• All subsequent codons are affected, all subsequent amino acids
affected
• Faulty, non-functional protein

2. Nonsense mutation
• Result in STOP codon
• Premature chain termination
• Subsequent amino acids are not formed
• Incomplete, non-functional polypeptide
Updated on 12/8/21 by Beh SJ @behlogy
 5 Important Disease Examples
Pattern of Normal Mutant
Diseases Gene
inheritance allele allele
Sickle Cell Gene coding
Codominance HbA HbS
Anaemia (SCA) for β-globin
Autosomal TYR gene coding
Albinism You decide
recessive for tyrosinase
X-linked Gene coding
Haemophilia XH Xh
recessive for factor VIII
Huntington’s Autosomal Huntingtin
h H
Disease (HD) dominant (HTT) gene
Autosomal
Cystic fibrosis (CF) CFTR gene You decide
recessive

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 6 Recap

1. Sickle Cell Anaemia

• Inherited blood disorder
• Affects the structure of the haemoglobin
• Cause: Base substitution in gene coding for β-globin

Updated on 12/8/21 by Beh SJ @behlogy

 Chap 6 Recap

1. Sickle Cell Anaemia

P/S: the textbook is
wrong and yes, you
need to rmb that T is
replaced by A.

• Base substitution in gene coding for β-globin results in

→different mRNA codon
→different tRNA brings a different amino acid to ribosome

→ leads to a change of 6th amino acid in polypeptide chain

→Altered primary structure
→Glutamic acid is polar whereas valine is non-polar
→Changed secondary, tertiary and quaternary structure
Updated on 12/8/21 by Beh SJ @behlogy
 1. Sickle Cell Anaemia
Mutated β-globin causes:
• Hb molecule to become less soluble
in low pO2
• Stick tgr
• Form long fibres
• Cells become crescent / sickle-shaped
• Carry less oxygen

• Sickled red blood cells break down faster

→ cause lack of RBCs
• Sickle cell crisis = RBC get stuck in
capillaries and block blood flow
→ Cause pain
• BUT give protection against malaria /
Plasmodium infection (more in Chap 17)
Updated on 12/8/21 by Beh SJ @behlogy
 1. Sickle Cell Anaemia
• HbA = normal β-globin allele
• HbS = mutant β-globin allele

• HbAHbA = 2 normal β polypeptide alleles

→ Normal

• HbSHbS = 2 mutant β polypeptide alleles

→ sickle cell anaemia

• HbAHbS = 1 normal & 1 mutant

→ Has the sickle cell trait / ‘carriers’
→ Half of the haemoglobin is normal
→ Codominant

Updated on 12/8/21 by Beh SJ @behlogy

 2. Albinism
• Classic form caused by autosomal recessive mutation
• Melanin is missing from eyes, skin and hair

Symptoms:
• Pale / white skin and hair
• Pink eyes
• Increased susceptibility to
sunburn / skin cancer

• Rapid, jerky eye movements

• Tend to have poor vision
• Tend to avoid bright light

Updated on 12/8/21 by Beh SJ @behlogy

 2. Albinism
• Classic form caused by autosomal recessive mutation
• In TYR gene coding for enzyme tyrosinase
• Involved in conversion of tyrosine to DOPA, which is needed for
melanin production in melanocytes (cells that produce melanin)

• Tyrosinase is an oxidase enzyme

• Has 2 copper atoms, binds 1 O2 molecule
• Transmembrane protein found at membrane of melanosomes
(large, specialised organelles in melanocytes)

• Mutation results in absence / inactive tyrosinase

Updated on 12/8/21 by Beh SJ @behlogy

 3. Haemophilia
• Sex-linked
• Gene for blood clotting protein (factor VIII)
is carried on X chromosome
• Caused by X-linked recessive mutation

• XH = normal allele
• Xh = haemophilia allele
→ Factor VIII is not produced
→ This reduces clotting of blood

Symptoms:
• Excessive bleeding
• Bleeding into joints
• Large bruises
• Internal bleeding
Updated on 12/8/21 by Beh SJ @behlogy
 Haemophilia in the British Monarch

3. Haemophilia

Possible genotypes:
XH Xh Xh Xh XH XH Xh Y XH Y
female carrier female affected female normal male affected male normal

All carriers must be female

Male with carrier mother has 50% chance of having haemophilia
Updated on 12/8/21 by Beh SJ @behlogy
 4. Huntington’s disease (HD)
• Neurological disorder (i.e. neurones die)
• Usual onset in middle age btwn 28-65yo
• Caused by an autosomal dominant mutated allele
• Mutation at the huntingtin (HTT) gene on chromosome 4

Symptoms:
• Involuntary movements / uninhibited
motor control
• Mood changes
• Progressive mental deterioration
• Brain cells lost

Updated on 12/8/21 by Beh SJ @behlogy

 4. Huntington’s disease (HD)
• Normal recessive allele has 10–35 repeats of CAG
• Mutant dominant allele has >= 36 repeats of CAG
→ CAG codes for glutamine
→ Result in extra glutamine / polyglutamine
→ Huntingtin protein misfolded

• More repeats = earlier onsets

→ E.g. onset even in babies
if many repeats

Updated on 12/8/21 by Beh SJ @behlogy

 4. Huntington’s disease (HD)
Pedigree diagram for Huntington’s Disease

Most people with HD are heterozygous

Have 50% chance of passing it to child Updated on 12/8/21 by Beh SJ @behlogy
 5. Cystic Fibrosis
• Inherited genetic disease
• Faulty, autosomal recessive allele of the CFTR gene

Normal CFTR protein :

• Transmembrane protein at cell surface membrane
• Acts as chloride channel
• Has binding site for ATP
• Cl- moves out of cell via active transport
• Water is drawn out from cell
→ Normal / less viscous mucus formed
→ Easy removal by cilia

Updated on 12/8/21 by Beh SJ @behlogy

 5. Cystic Fibrosis
Faulty CFTR allele:
a) Base deletion → faulty CFTR (most common)
b) Base substitution → STOP codon → incomplete CFTR

Faulty CFTR protein:

• No functional channels for Cl- ions
• Cl- ions do not move out
• Less water leaves cell
→ Formation of thick, sticky mucus
on cell surface membrane
→ Cannot be removed by cilia

Updated on 12/8/21 by Beh SJ @behlogy

 5. Cystic Fibrosis
Symptoms:
• thick and sticky mucus produced at lungs
• mucus not moved effectively by cilia → mucus accumulates
• mucus traps bacteria → more infections
• reduced gaseous exchange → due to longer diffusion pathway
• difficulty in breathing, wheezing
• coughing → cause lungs to be scarred

• blocked pancreatic duct → reduced

digestion, damage of pancreatic
tissues causes diabetes
• blocked sperm ducts / oviducts
→ reduced fertility

Updated on 12/8/21 by Beh SJ @behlogy

5. Cystic Fibrosis

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
Part III: More Patterns of Inheritance
• Sex linkage
• Codominance
• Multiple alleles
• Epistasis
• Autosomal linkage

• Mutations
• Important examples of mutations: sickle cell anemia, albinism,
haemophilia, Huntington’s disease, cystic fibrosis

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter 16
A2 Level
Inherited Change
Part 4: Gene Control
 Chapter Outline
Part IV: Gene Control
• Structural vs regulatory genes
• Repressible, inducible enzymes

• Prokaryotes: The lac operon

• Eukaryotes: Function of transcription factors in gene expression

• Gibberellin breaks down DELLA protein repressors to activate genes

Updated on 12/8/21 by Beh SJ @behlogy

 Regulation of Gene Expression
• Gene expression = process where gene is being transcribed to mRNA and
then translated to protein

• Gene regulation = process that enable gene expression in specific cells and
specific time
→ To ensure gene is expressed in correct cell at the correct time in the correct
context
→ Some genes are transcribed all the time to produce constitutive proteins
→ Others are only ‘switched on’ when their protein products are required
→ Why?
• No wastage of energy and resources
• No expression of protein that may interfere with cell function

Updated on 12/8/21 by Beh SJ @behlogy

 Structural vs Regulatory Genes
Structural genes
• Gene that code for proteins needed for cell structure or function
• E.g. proteins that form part of cellular structure, enzymes, rRNA etc.

Regulatory genes
• Genes that code for regulatory proteins that controls gene
expression/transcription
• E.g. transcription factors, including repressors and activators
• Transcription factors can bind to a specific DNA seq and control
transcription
• Activators = increases gene expression
• Repressor = reduce / inhibit gene expression

Updated on 12/8/21 by Beh SJ @behlogy

 Repressible, inducible enzymes
Repressible enzymes
• Synthesis can be prevented when a repressor protein binds to an
operator, a specific seq of DNA
• Repressor stops binding of RNA polymerase

Inducible enzymes
• Synthesis only occurs when substrate is present
• Inducer that binds to regulatory protein
→ Gene is switched on

E.g. the lac enzymes

Updated on 12/8/21 by Beh SJ @behlogy

 Gene Control in Prokaryotes: Operons
• Found in prokaryotic DNA
• Makes up a unit of gene expression in bacterium
• Regulatory gene is close to the operon

Operons consist of:

• One or more structural genes, under control of a single promoter

• Control region of DNA, which are specific seq recognised by regulatory

proteins and enzymes
• Promoter = where RNA polymerase binds
• Operator = where repressor binds

Updated on 12/8/21 by Beh SJ @behlogy

Gene Control in Prokaryotes: Operons

Updated on 12/8/21 by Beh SJ @behlogy

 The lac operon
• Found in Escherichia coli bacteria
• The bacteria lives on sugar, i.e. glucose and lactose
• Lac operon = set of 3 genes next to each other
• Code for 3 repressible, inducible enzymes
• lacZ = codes for β-galactosidase (breaks down lactose into
galactose and glucose)
• lacY = codes for permease (increases lactose uptake)
• lacA = codes for transacetylase

lacI

Updated on 12/8/21 by Beh SJ @behlogy

 The lac operon
• Regulatory gene, lacI that codes for repressor is close by
• Repressor is a constitutive protein = produced all the time

• Repressor protein is an allosteric protein = has 2 binding sites

1. DNA-binding site (to bind to operator region)
2. Lactose-binding site

• When lactose binds to its site, the shape of protein changes

• DNA-binding site is closed
• Repressor is inactivated

Updated on 12/8/21 by Beh SJ @behlogy

 The lac operon
When there is no lactose:
• Regulatory gene codes for repressor
• Repressor not bound to lactose
• Repressor binds to the operator region
• RNA polymerase cannot move to operator and structural genes
• NO transcription of the 3 genes
• Genes are switched OFF

Updated on 12/8/21 by Beh SJ @behlogy

 The lac operon
When lactose is present:
• Lactose is taken up by bacteria
• Lactose acts as inducer and binds to repressor
• Repressor changes shape, and cannot bind to the operator region on DNA
• RNA polymerase can bind to promoter and move to operator and genes
• Transcription occurs
• Genes are switched ON

Updated on 12/8/21 by Beh SJ @behlogy

 The lac operon
Benefits of this mechanism:
• Allow bacteria to produce the 3 enzymes only when lactose is available
• When both glucose and lactose available, bacteria prefers glucose –
can repress the lac operon using another transcription factor
• 3 enzymes produced in equal amounts
• Avoids waste of energy and materials

Updated on 12/8/21 by Beh SJ @behlogy

 Gene Control in Eukaryotes
• Genome size is larger than prokaryotes
• Have more diff transcription factors and mechanism to regulate
gene expression
• In humans, 10% genes code for transcription factors

Functions of transcription factors:

• General TFs = form part of the protein complex that binds to the
promoter region with RNA polymerase
→ transcription
• Activate appropriate gene in sequence
→ allow correct pattern of development of body regions
• Determination of sex in mamals
• Allow responses to environmental stimuli e.g. temp
• Products of proto-oncogenes and tumour suppressor genes and
other TFs, regulate the cell cycle, growth and apoptosis
• TFs carry out the effect in response to hormones
Updated on 12/8/21 by Beh SJ @behlogy
Updated on 12/8/21 by Beh SJ @behlogy
 Chap 15 Recap Gene Control in Plants
Role of Gibberellin in Stem Elongation
Without GA:
• Transcription factor (i.e. PIF) attached to DELLA protein
• TF cannot bind to DNA

When GA binds to receptor:

• causes DELLA protein destruction
• inhibition of transcription removed
• TF binds to DNA
• TF recruits RNA polymerase to bind to DNA
• Growth genes switched on / transcribed → production of amylase

Updated on 12/8/21 by Beh SJ @behlogy

 Chapter Outline
4 Parts!
1. Meiosis
2. Mendelian Inheritance + Chi-squared test
3. More Patterns of Inheritance
4. Gene Control

Updated on 12/8/21 by Beh SJ @behlogy