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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.
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.
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How does a mutation in the gene for G6PD cause the enzyme deficiency
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amino acids
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Cys
Cys
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Cys
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Protein synthesis
two stages:
Animation
nucleus 1 2 cytoplasm
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1 Transcription
a The two DNA strands are held together by weak hydrogen bonds.
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1 Transcription
b The hydrogen bonds break and the two DNA strands separate.
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1 Transcription
c Under the action of RNA polymerase, free nucleotides are added against a template.
template strand
free nucleotides
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1 Transcription
c A messenger RNA is synthesized.
triplet code template strand
mRNA
codon ()
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1 Transcription
d The messenger RNA leaves the nucleus.
template strand
mRNA
to cytoplasm
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2 Translation
occurs at ribosomes () made up of ribosomal RNA (rRNA) and proteins
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2 Translation
occurs at ribosomes ()
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2 Translation
occurs at ribosomes ()
attached to endoplasmic reticulum (ER) free-floating
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2 Translation
occurs at ribosomes () What happens during translation?
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2 Translation
a The mRNA attached to a ribosome.
ribosome
(stop) n
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2 Translation
b A specific amino acid is carried to the ribosome by a transfer RNA.
tRNA
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2 Translation
b A specific amino acid is carried to the ribosome by a transfer RNA.
amino acid
RNA strand anticodon () 32
2 Translation
c The anticodon on the tRNA molecule binds to the first codon on the mRNA.
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2 Translation
c The anticodon on the tRNA molecule binds to the first codon on the mRNA. Complementary!
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2 Translation
d Another tRNA molecule carrying an amino acid binds to the next codon.
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2 Translation
d The two amino acids link up by a peptide bond to form a dipeptide.
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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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2 Translation
f The polypeptide is then released.
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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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1 Features:
a Each genetic code is a triplet code that is made up of three bases.
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1 Features:
b The genetic code is known as degenerate code as some amino acids have more than one code.
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1 Features:
c The genetic code has no gaps and is non-overlapping .
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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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3 Protein synthesis:
DNA template strand transcription mRNA
translation polypeptide coiling and folding
protein
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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
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
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
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
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
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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
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
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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
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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
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
28.2 Mutations
Causes of mutations
Mutagen Asbestos () Chemical Source Construction materials
28.2 Mutations
Causes of mutations
Mutagen Source Ultraviolet Sunlight light () Radiation X-ray
Medical examination
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
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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
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28.2 Mutations
3b
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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
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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