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Think about 28.1 From DNA to proteins 28.2 Mutations Recall Think about Summary concept map

Glucose-6-phosphate dehydrogenase (G6PD) (-6-) is an enzyme produced in immature red blood cells.

It protects the red blood cells from being oxidized and destroyed.

About 5% of the HK population have G6PD deficiency (-6- ).

They cannot make G6PD due to a mutation in the gene.

If they are exposed to substances with oxidizing properties, their red blood cells will break down rapidly.

If they are exposed to substances with oxidizing properties, their red blood cells will break down rapidly.

How can G6PD be produced only in red blood cells

How is G6PD made in the cells

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How does a mutation in the gene for G6PD cause the enzyme deficiency

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28.1 From DNA to proteins

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28.1 From DNA to proteins

The genetic code


the way in which the base sequence in a DNA strand determines the amino acid sequence in a polypeptide

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28.1 From DNA to proteins

The genetic code


Ala Gln Leu Ser
Arg Glu Lys Thr

Asn Gly Met Trp


Asp His Phe Tyr Cys Ile Pro Val 4 bases 20 amino acids
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28.1 From DNA to proteins

The genetic code


three bases code for one amino acid triplet code ()
DNA strand

amino acids
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28.1 From DNA to proteins

The genetic code


43 = 64 triplet codes

More than enough!

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28.1 From DNA to proteins

The genetic code


degenerate code ()

Cys

Cys
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28.1 From DNA to proteins

The genetic code


some are start signals and stop signals no gaps, read in a non-overlapping manner

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28.1 From DNA to proteins

The genetic code


universal

Cys
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28.1 From DNA to proteins

Protein synthesis
two stages:
Animation

nucleus 1 2 cytoplasm
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transcription () DNA RNA


translation () RNA polypeptide

28.1 From DNA to proteins

1 Transcription
a The two DNA strands are held together by weak hydrogen bonds.

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28.1 From DNA to proteins

1 Transcription
b The hydrogen bonds break and the two DNA strands separate.

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28.1 From DNA to proteins

1 Transcription
c Under the action of RNA polymerase, free nucleotides are added against a template.
template strand

free nucleotides
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28.1 From DNA to proteins

1 Transcription
c A messenger RNA is synthesized.
triplet code template strand

mRNA
codon ()

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28.1 From DNA to proteins

1 Transcription
d The messenger RNA leaves the nucleus.
template strand

mRNA

to cytoplasm

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28.1 From DNA to proteins

2 Translation
occurs at ribosomes () made up of ribosomal RNA (rRNA) and proteins

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28.1 From DNA to proteins

2 Translation
occurs at ribosomes ()

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28.1 From DNA to proteins

2 Translation
occurs at ribosomes ()
attached to endoplasmic reticulum (ER) free-floating
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28.1 From DNA to proteins

2 Translation
occurs at ribosomes () What happens during translation?

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28.1 From DNA to proteins

2 Translation
a The mRNA attached to a ribosome.
ribosome

(start) codon 1 2 mRNA

(stop) n

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28.1 From DNA to proteins

2 Translation
b A specific amino acid is carried to the ribosome by a transfer RNA.
tRNA

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28.1 From DNA to proteins

2 Translation
b A specific amino acid is carried to the ribosome by a transfer RNA.
amino acid
RNA strand anticodon () 32

28.1 From DNA to proteins

2 Translation
c The anticodon on the tRNA molecule binds to the first codon on the mRNA.

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28.1 From DNA to proteins

2 Translation
c The anticodon on the tRNA molecule binds to the first codon on the mRNA. Complementary!

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28.1 From DNA to proteins

2 Translation
d Another tRNA molecule carrying an amino acid binds to the next codon.

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28.1 From DNA to proteins

2 Translation
d The two amino acids link up by a peptide bond to form a dipeptide.

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28.1 From DNA to proteins

2 Translation
e The ribosome moves along the mRNA until a stop codon is met.
one amino acid added at a time stop codon

direction of translation

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28.1 From DNA to proteins

2 Translation
f The polypeptide is then released.

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28.1 From DNA to proteins

2 Translation
f It coils and folds to form a protein. Some proteins are formed by two or more polypeptides binding together.

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28.1 From DNA to proteins

What happens to the proteins synthesized?


proteins made at ribosomes on rough ER will be transported inside the ER secreted by the cell

embedded in cell membrane


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28.1 From DNA to proteins

What happens to the proteins synthesized?


proteins made at free-floating ribosomes will remain in the cytoplasm used by the cell

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28.1 From DNA to proteins

Genetic code expressed in terms of mRNA codons:

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28.1 From DNA to proteins

1 Features:
a Each genetic code is a triplet code that is made up of three bases.

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28.1 From DNA to proteins

1 Features:
b The genetic code is known as degenerate code as some amino acids have more than one code.
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28.1 From DNA to proteins

1 Features:
c The genetic code has no gaps and is non-overlapping .

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28.1 From DNA to proteins

1 Features:
d The genetic code is universal as the same triplet code codes for the same amino acid in all organisms.
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28.1 From DNA to proteins

2 The process by which genetic


information contained in a gene is decoded to make a protein is called gene expression .

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28.1 From DNA to proteins

3 Protein synthesis:
DNA template strand transcription mRNA
translation polypeptide coiling and folding

protein
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28.1 From DNA to proteins

4a Some of the proteins synthesized


will be transported inside the rough endoplasmic reticulum before being secreted out by the cell or embedded in the cell membrane .
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28.1 From DNA to proteins

4b Some of the proteins synthesized


will be used by the cell itself.

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28.2 Mutations sudden and permanent change of DNA two types: gene mutations () chromosome mutations ()

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28.2 Mutations

1 Gene mutations
a change in the base sequence of the DNA in a gene different forms: deletion () insertion () substitution () inversion ()
Animation

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28.2 Mutations

1 Gene mutations
Base Amino acid sequence in sequence coding strand Normal Deletion
ATG CAT GTA TTG MetHisValLeu

ATG ATG TAT TG

MetMetTyr

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28.2 Mutations

1 Gene mutations
Base Amino acid sequence in sequence coding strand Normal
ATG CAT GTA TTG MetHisValLeu

Insertion

ATG GCA TGT ATT G

MetAlaCysIle

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28.2 Mutations

1 Gene mutations
Base Amino acid sequence in sequence coding strand Normal Substitution
ATG CAT GTA TTG MetHisValLeu

ATG TAT GTA TTG

MetTyrValLeu

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28.2 Mutations

1 Gene mutations
Base Amino acid sequence in sequence coding strand Normal Inversion
ATG CAT GTA TTG MetHisValLeu

ATG ACT GTA TTG

MetThrValLeu

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28.2 Mutations

1 Gene mutations
deleting or inserting a number of bases that is not a multiple of three will shift the reading frame ()
Normal Insertion
ATG CAT GTA TTG ATG GCA TGT ATT G MetHisValLeu MetAlaCysIle

Altered!
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28.2 Mutations

1 Gene mutations
deleting or inserting a number of bases that is not a multiple of three will shift the reading frame ()
Normal Insertion
ATG CAT GTA TTG ATG GCA TGT ATT G MetHisValLeu MetAlaCysIle

Resulting protein is usually non-functional.

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28.2 Mutations

1 Gene mutations
a substitution or an inversion of base(s) may result in a different amino acid
Normal Inversion
ATG CAT GTA TTG
ATG ACT GTA TTG

MetHisValLeu
MetThrValLeu

It may affect the proteins structure or function.


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28.2 Mutations

1 Gene mutations
sickle-cell anaemia () is caused by the substitution of a base

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28.2 Mutations

1 Gene mutations
normal

DNA template

sickle-cell anaemia

transcription mRNA
translation Glu polypeptide Val
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28.2 Mutations

1 Gene mutations
red blood cells normal
sickle-shaped can block blood vessels
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28.2 Mutations

2 Chromosome mutations
a change in the structure or total number of chromosomes

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure different forms: deletion duplication () inversion translocation ()
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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure genes deletion

loss of genes

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure duplication

gain of genes
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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure inversion

order of genes reversed

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure translocation

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure translocation

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure translocation

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28.2 Mutations

2 Chromosome mutations
i) Changes in chromosome structure translocation

exchange of genes

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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number homologous chromosomes or chromatids fail to separate during gamete formation

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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number
parent cell (2n) 1st meiotic division 2nd chromatids fail meiotic to separate division

n-1

n+1

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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number
abnormal ovum n+1

two chromosome 21

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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number
abnormal ovum n+1 n

normal sperm

Down syndrome
2n + 1

three chromosome 21
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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number

Down syndrome
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28.2 Mutations

2 Chromosome mutations
ii) Changes in chromosome number

Down syndrome
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28.2 Mutations

2 Chromosome mutations
approximate risk of having children with Down syndrome
ii) Changes in chromosome number
1/35

20 25 30 35 40 45 mothers age (years)

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28.2 Mutations

Causes of mutations
Spontaneous mutations () occur naturally and randomly occur at a very low rate

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28.2 Mutations

Causes of mutations
Induced mutations () induced by exposure to certain chemicals and radiation

increase the rate of mutation


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28.2 Mutations

Causes of mutations
Induced mutations () induced by exposure to certain chemicals and radiation

mutagens ()
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28.2 Mutations

Causes of mutations
Induced mutations () induced by exposure to certain chemicals and radiation
change the chemical structure of DNA

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28.2 Mutations

Causes of mutations
Induced mutations () induced by exposure to certain chemicals and radiation
ionize water to form free radicals ()
highly reactive and can damage DNA

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28.2 Mutations

Causes of mutations
Mutagen Source

Nitrous acid Food () preservatives Chemical Tar Cigarette smoke


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28.2 Mutations

Causes of mutations
Mutagen Asbestos () Chemical Source Construction materials

Mustard gas Chemical warfare ()


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28.2 Mutations

Causes of mutations
Mutagen Source Ultraviolet Sunlight light () Radiation X-ray

Medical examination

Gamma ray Radiotherapy, () nuclear bombs


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28.2 Mutations

Significance of mutations
usually harmful diseases or death

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28.2 Mutations

Significance of mutations
sometimes beneficial mutations occurring in gametes or gamete-producing cells are inheritable source of variations essential for natural selection () to bring about evolution
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28.2 Mutations

1 A gene mutation is a change in the


base sequence of the DNA in a gene.

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28.2 Mutations

2 A chromosome mutation is a
change in the structure or total number of chromosomes.

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28.2 Mutations

3a

Spontaneous mutations occur naturally and randomly.

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28.2 Mutations

3b

Induced mutations are induced by exposure to mutagens.

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28.2 Mutations

Mutagen

Examples

Chemical

Nitrous acid, tar, asbestos, mustard gas Ultraviolet light, X-ray, gamma ray
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Radiation

How can G6PD be produced only in red blood cells?


Although each cell has a copy of all the genes in an organism, some genes are expressed in certain types of cells only.
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How can G6PD be produced only in red blood cells?


In this case, the G6PD gene is switched on in immature red blood cells, but switched off in all other cells.
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How is G6PD made in the cells?

In the synthesis of G6PD, information in the genes is first copied to mRNA in transcription. Then translation takes place to produce a polypeptide. The polypeptide coils, folds and binds with other polypeptides to form G6PD.

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How does a mutation in the gene for G6PD cause the enzyme deficiency?
In G6PD deficiency, the mutation in the G6PD gene results in a change of the triplet codes.
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How does a mutation in the gene for G6PD cause the enzyme deficiency?
That in turns results in a polypeptide with a wrong sequence of amino acids and normal G6PD cannot be produced.
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Protein synthesis
involves two stages

transcription
takes place in

translation

produces

nucleus

mRNA

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translation
involves the following organelles produces

ribosomes
located in

polypeptide
coils and folds to form

cytoplasm

protein
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Protein synthesis
affected by

mutation
may be

spontaneous mutation

induced mutation
induced by

mutagens

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mutation
occurs in

genes

chromosomes
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