genes- a
length of DNA
that codes for
one or
polypeptide
chains
polypeptide-
polymer consisting of
a chain of amino acid
residues joined by a
peptide bond.
genome- entire DNA sequence of one
organism. Human genomes consist of 3
billion nucleotide base pairs
Protein- Large
polypeptide (100+
amino acids) some
proteins consist of
more than one
polypeptide chain
A gene is...
sequence of nucleotide
bases that code for
polypeptides
human genome = 25 000
genes (some in
mitochondria and linear
chromosomes)
occupies locus on
chromosome
codes for polypeptides such as...
haemoglobin
immunoglobulins
antigens
enzymes
electron carriers
structural proteins
cell surface receptors
actin and myosin
tubulin
channel
Genetic code
triplet code- 3
nucleotide bases
that code for an
amino acid (20
acids) 4x4=16 not
enough, 4x4x4=64
more than enough
Degenerate code- All amino
acids have more than one
code (Not MET)
Stop
codons at
end of chain
wide spread
info, not
universal
Protein Synthesis,
1st Step-
Transcription
Free DNA nucleotides in the
nucleoplasm and free RNA
nucleotides in nucleolus.
Nucleotides are activated
(Have 2 extra phosphoryl
groups)
4 Different activated RNA
nucleotied: ATP, GTP, CTP,
UTP
Steps:
1. DNA that makes up
gene dips out of
nucleolus. H+ Bonds
break and DNA molecule
unwinds and unzips.
2. RNA nucleotides
bind with Hydrogen
bonds: U-A, G-C, A-T
(on template strand).
catalysed reaction
with RNA polymerase
3. Two extra phosphoryl
groups needed. Released
Energy for bonding adjacent
nucleotides
4. mRNA produced =
complementary to nucleotide
Base sequence on template
therefore, copy of base
sequences on coding strand of
the length of DNA
5. mRNA released
from DNA and
passes out of the
nucleus, through a
pore to the ribosome
Translation-
2nd Step of
Protein
Synthesis
Translation is...
assembly of
polypeptides
(proteins) at
ribosomes
second stage of protein
synthesis (amino acids
assembled into polypeptides)
assembled according to
codon (triplets of
nucleotide bases.
occurs in ribosomes
Ribosomes...
assembled in
nucleolus of
eukaryote cells
from ribosomal
RNA and
protein
move along
mRNA through
groove- reads
code and
assembles
amino acids in
correct order to
form a
functional
protein
sequence of
amino acids
important
because...
forms primary structure (determines
tertiary structure), how its held in 3D form
with hydrogen or ionic bonds, hydrophobic
reactions between R groups, tertiary
structure allows protein to function, if
altered cant function properly
Transfer RNA (tRNA)
made in
nucleus and
pass into
cytoplasm
length of RNA
that folds into
hairpin (clover)
shape
3 exposed bases
where a
particular amino
acid can bind
on other end: 3 unpaired
nucleotide bases- anticodon.
each binds temporarily with
complimentary codon
Steps:
1. mRNA binds to
ribosomes- Translation
begins. AUG codes for
Methonine. Anticodon of
tRNA forms base pairs with
codon on mRNA
.2. Another tRNA molecule
(Serine) occupies second spot
in ribosomes. Peptide bond
formed with MET and SER
3. Ribosomes move one codon
along mRNA. MET tRNA leaves
and another arrives and
occupies next vacant position.
tRNA ensures genetic message
is read correctly
4. Ribosome moves on
and add on more amino
acids to polypeptide
chain. carries on until
stop codon appears (UAA,
UAG, UGA). Translation is
complete
Some proteins activated by cAMP
which activates them by changing
3D shape so its easier to fit their
complementary molecule
Protein Synthesis in
Prokaryoes- Translation begins
as soon as mRNA made
because DNA not held in a
nucleus
Mutations
Key Words...
Mutations- change in amount
of or arrangement of genetic
material in a cell (randomly
occuring)
chromosome mutations-
change to part or whole
chromosome. Changes to
the structure such as
deletion, inversion and
translocation.
DNA mutations- changes to
genes due to changes in
nucleotide base sequences
Occurs during replication.
substances may cause
mutations- Tar, UV, X/Gamma
rays
DNA Mutations
Occur during nuclear division
Meiosis- can
be passed to
offspring
Mitosis- Somatic
mutations- not passed
to offspring,
contributes ot ageing
process/cancer
2 Types:
1. Point Mutations-
one base pair
replaces another-
Substituted base pair
Cause:
Missense: is a point
mutation in which a
single nucleotide is
changed, resulting in a
codon that codes for a
different amino acid
Nonsense:
mutation causes a
stop in the
polypeptide chain.
therefore, not a
full chain and cant
form any functions
Silent Mutations-
Mutation within
triplet code that
doesnt affect the
amino acid or
polypeptide chain
2. Insertion/Deletion mutations- 1+
nucleotide pairs inserted or
deleted from DNA. Causes a
Frameshift
Causes Frameshift, deletion of one gene
that causes a frameshift because of this,
different amino acids would form with no
stop codon
Diseases due
to mutations:
Deletion of Triplet base pair =
deletion of amino acids from
approx 1480 amino acids in
normal polypeptide chain: Cystic
Fibrosis
Mutation on Codon 6 for Beta
polypeptide chains of
haemoglobin cause valine to be
inserted rather than glutamic
acid: Sickle Cell anaemia
repeated CAG sequence if
expand a threshold number
protein is altered sufficiently:
Huntingtons
Neutral effects
allele- alternate version
of a gene, still at same
locus on chromosome
and cods for some
polypeptides but
alterations to base
alters structure
may not
change
organisms
if...
in non
coding
region of
DNA
silent
mutations
change/mutation
may not have an
advantage or
disadvantage and
so has neutral
effects.
harmful or
beneficial
effects:
early human melanin
protected harmful
effects of UV light,
but can still synthesis
Vitamin D
mutations to skin colour
gene (pale skin, would
have more burns and
suffer skin cancers)
migration to more temperate
climates, sun not intense enough
for Dark.
Those with paler
skins would be
advantaged as
they can
synthesis
Vitamin D
Low vitamin D...
rickets
narrow pelvis
Cancer
Heart disease
The Lac Operon
Enzyme induction
enzymes involved in
basic cellular functions
are synthesised at a
constant rate
inducible enzymes
synthesised at variable
rates according to cell
circumstances
Bacteria adapt to their
environment by producing
enzyme to metabolise certain
nutrients only when present
E coli repress glucose but
also use lactose as a
respiratory substance
E coli grown with no lactose can be placed where there
is lactose. at first they cant metabolise lactose because
they have small amounts of the 2 enzymes to metabolise.
the two enzymes are:
Beta galactosidase- catalyses
the hydrolysis of lactose to
glucose and galactose
Lactose Permease-
transports lactose into
cells
when added to lactose
environment, bacteria increases
rate of synthesis of the 2 enzymes
(inducer)
Lac System Genes form an Operon
Regulatory Gene- Not part of operon,
a gene involved in controlling the
expression of one or more other
genes.
Structural Genes
Z: codes for- Beta Galactosidase
Y: Codes for- Lactose Permease
each consists of
sequence of base
pairs that can
transcribe to mRNA
Opperator region- switches genes on and off
Promoter region- RNA
polymerase binds to begin
transcription of structural
genes
Absent Lactose
1. Regulatory gene expressed, repressor
protein synthesised. 2 binding sites:
lactose and opperator region
2. repressor protein binds with
opperator region and covers
promoter where RNA polymerase
normally attaches
3. Structural genes not transcribed
4. without mRNA, gene cant be
transcribed, both enzymes not
synthesised
With Lactose
1. lactose binds to site on
repressor protein, causes
repressor to change shape
and cant bind with operator.
Lactose = inhibitor
2. Promotor region
remains unblocked, RNA
polymerase binds and
initiates transcription of
mRNA for Z and Y genes
3. operator-repressor-inducer
system acts as switch and
allows transcription and
subsequent translations of Z
and Y into Lac enzyme
4. E coli can use lactose permease to bring
lactose into cell and convert lactose to
glucose and galactose with beta
galactosidase. sugars used for respiration
and gaining energy from lactose
Genes and Body Plans
Drosophilia development
1. one miotic
division every 6-10
mins
2. no new cell
membranes and
multi-nucleate syncytium
formed.
3. 8th division-
256 nuclei
migrate to
outerparts
4. 11th division-
nuclei form outer
layer around
central yolk filled
core.
5. 14th Division- slows
down (60 mins). nuclear
genes switch from
replicate to transcribe
6. membrane
invaginates around
6000 nuclei.
therefore, cells form
single outer layer
7. 2-3 hours- embryo develops into
segements corresponding to organisation
of organisms body plans. Md, Mx, Lb=
Head; T1-T3= Thoracic; A1-A8=
abdominal
8. Metamorphisis- legs,
wings, antennae.
Genetic control
Homeobox genes: controls
development of body plans of
an organism (Polarity, position
of organs)
maternal effect
genes- polarity
segmentation
genes- polarity
of segments
Genetic control of
development in other
organisms
Homeobox genes contain 180 base
pairs therefore, polypeptides of 60
amino acids
Hox clusters-
arrangements of
homebox genes
Nematodes (roundworms)- 1 Hox Clusters
Drosophilia- 2
Vertebrates- 4, 9-11
genes, separate
chromosomes
Retinoic Acid and birth defects- too much
retinoic acid (Vitamin A) interferes with
expression of genes therefore, birth defects
may iccur. Vitamin A activates homeobox
genes
Apoptosis
Programmed cell death
hayflick constant- 50 miotic divisions
that undergo a series of biochemical
events before tidy cell death
necrosis- messy cell death
How is it controlled? Cell signaling
Cytokines (made
by cells immune
system)
hormones
nitric oxide- induces
apoptosis by making
inner mitochondrial
membrane permeable
to H+ and dissipitates
proton gradient