genetics discussion 2 (transcription, slicing, mutations) Flashcards

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1
Q

1*. If DNA is double stranded, why do we say we have one copy of a gene in DNA, rather than 2?

A
  • coding stand / 5 ==>3
  • template strand / 3==>5
  • mRNA / 5==>3

***in transcription, only one of the 2 DNA strands (template strand) is used to make RNA

***the template DNA strand (3to5)
==> make COMPLEMENTRY mRNA (5to3)

***RNA polymerase builds a mRNA stand in 5to3 direction/ adding ea new nucleotide to the 3 end of the template strand

= template strand used to make mRNA strand
*the template strand read the opposite direction to the coding, so that the mRNA can be made starting from 5==>3 (the same as the coding)

=mRNA is formed in the 5==>3 direction (this is the same direction of the coding strand)

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2
Q

2*. Explain how it is possible to get 3 different types of muscle proteins from just one gene.

A

= ALTERNATE SPLICING of the TROPOMYOSIN gene

***prod. several forma of alpha-tropomyosin mRNA

***introns are spliced out, leaving different exons in each mRNA strand, which code for diff types of protein (muscle tissues

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3
Q
  1. Although RNA is usually
    * single stranded,

some viruses have
*double stranded RNA
as their genome.
(e.g. Rotavirus, the most common cause of infantile gastroenteritis in the world)

They need to bring
*RNA polymerase
with them when they infect a cell. Why can’t they use the RNA polymerase in human cells?

A

*VIRAL RNA polymerase can
ONLY transcribe
= from RNA

*HUMAN RNA polymerase transcribes
= from DNA

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4
Q
  1. HIV (Human immunodeficiency virus) has a coding strand of RNA. But instead of replicating, it can convert to DNA and hide in the DNA of the helper T-lymphocyte nucleus. Can it use enzymes in the host cell to convert to DNA?
A

NO
HIV bring along it’s own
= REVERSE TRANSCRIPTASE

which
CONVERST HIV RNA
= to DNA
*allowing it to HIDE in human DNA strand

***humans don’t have reverse transcriptase, bec> we don’t make DNA from RNA

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5
Q
  1. RNA polymerase only needs a promoter sequence to start making copies of mRNA, if the same polymerases are found in every cell why are different proteins produced in different cell types?
A

because transcription factors are required

these transcription factors are only produced when needed

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6
Q
  1. You are investigating a gene. You find it has a promoter sequence before the gene,

but it is very hard to find a time when the cell is producing a protein product from that gene. Why?

A

= bec…PARTICULAR CONDITIONS ARE REQUIRED to induce gene expression for that particular protein product.

It is necessary to REGULATE
- cell DIFFERENTIATION
- and GROWTH, 
this is achieved through 
CONTROL of GENE EXPRESSION

TRANSCRIPTION FACTORS
= can be ACTIVE ALL THE TIME, or
= ONLY UNDER PARTICULAR CONDITIONS

These transcription factors can be ACTIVATED IN A NUMBER OF WAYS.

These factors can be EXTRACELLUAR, 
or 
INTERACT WITH PROTEINS NEAR THE PROMOTOR 
which can 
SUPPRESS GENE EXPRESSION
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7
Q

Why are so many transcription factors required in a human cell?

A

Transcription factors are a TYPE OF REGULATORY PROTEINS.

So many are required in a human cell as they 
= REGULATE AND 
= INITIATE TRANSCRIPTION of genes, 
by BINDING TO A SPEC. REGION
 of DNA (DNA to RNA).

Transcription factors help ensure that the
=RIGHT GENES are expressed in the
=RIGHT CELLS of the body,
=at the RIGHT TIME

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8
Q

Give an example of when the body needs to

…suppress gene expression using a transcription factor.

A

Transcription factor is

eg…IMPORTANT IN TUMOUR SUPPRESSION as it
= ACTIVATES GENES for
1. GROWTH SUPPRESSION and
2. APOPTOSIS

Eg…
= interleukin 2 when expansion of lymphocytes is required to fight an infection.
=================

***Transcription factor binds to specific sequences of DNA to MODIFY TRANSCRIPTION
either

DIRECTLY
(activator that binds to promoter region of DNA to start transcription) 
or 
INDIRECTLY 
(acting through cofactors)
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9
Q

Why physically can’t a strand of tRNA be used to encode a protein?

A

= bec…the physical STRUCTURE of tRNA is FOLDED
therefore the
***the ribosome cannot attach and start translating the strand of tRNA bec its folded up

***the folded strand has a 3D
L shape
due to NEUCLEOTIDE PAIRS forming on the molecule, making it bend

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10
Q

Why might the mRNA in the cytoplasm look different to the mRNA in a nucleus?

A

In Eukaryotes,
mRNA is SPLICED to REMOVE INTRONS before being transported to the cytoplasm.

nucleus = mRNA longer
cytoplasm - mRNA shorter

==> nucleus = pre-mRNA
==> nucleus = spliced to mRNA
==> cytoplasm = mature mRNA

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11
Q
Explain why 
a DNA mutation 
can still produce a protein 
that has the same sequence 
as a non-mutated gene?
A

= bec..
HD***genetic code is described as DEGENERATE (or redundant) because …
=a SINGLE AMINO ACID may be coded for by MORE THAN ONE CODON

=tf ***SILENT MUTATION…
CHANGE TO A CODON, BUT NO CHACE TO AMINO ACID PRODUCE
if a mutation was to happen and a nucleic acid was switched
it could still code for the same desired amino acid being adde to the polypeptide chain, NOT AFFECTING
- shape
- function
of end result

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12
Q

How can a mutation produce a smaller protein than normal?

A
==> mutation
==> leat to change in codon
==> wh can be a stop codon
==> signalling protein synthesis to end
==> protein cut short
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13
Q

Human ribosomes are
different from
bacterial ribosomes,

so antibiotics targeting protein production in bacteria are generally safe.

But some of these antibiotics can harm the mitochondria of human cells, why?

A

the RIBOSOME that mitochondria use for protein synthesis
is similar to those used by prokaryotic cells

mitochondria even having
DNA derived from
WHEN CELLS HAD PROKARYOTES INSIDE THEM

Some antibiotics function by binding to bacterial ribosomes and in some cases
==> MAY CONFUSE BACTERIAL RIBOSOME
==> with the RIBOSOMES OF MITOCHONRIA

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14
Q

Why does tRNA have an area called an anti-codon?

A

The area that is called the anti-codon on a tRNA

= contains 3 LETTERS that determines what AMINO ACID THAT GETS CARRIED.

This anti-codon sequence on the tRNA is
= COMPLEMENTARY TO THE mRNA sequence.

tRNA molecule is wobbly meaning that the anti-codon can bind to multiple bases

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15
Q

Which is likely to cause major changes in the protein produced by a gene? Explain why. A single base deletion or single base mutation? A one-base deletion or three-base deletion?

A

HD “FRAME SHIFT” = extra mark

= A SINGLE BASE DELETION would have the biggest effect
as it causes a
FRAME SHIFT
***by changing each of the codons (set of 3 ) that come after it, thus coding for different amino acids and changing the protein it then creates.

WA/ a SINGLE MUTATION or TRIPLE BASE DELETION would ==> ONLY IMPACT 1 CODON,
==> and therefore ONLY CHANGE 1 AMINO ACID

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16
Q

Why are there two different ends in the general structure of an amino acid?

A

it HELPS ORIENT THE ADDITION of AMINO ACIDS

as the positive amino end binds to the negative carboxyl end.

17
Q

The amino acid phenylalanine cannot be made in human cells, so why do phenylketonurics have a problem? If phenylalanine could be produced in human cells what do you think would happen to people with this mutation?

A

==>Phenylketonuria is a genetic condition
==>caused by a defect in the PAH gene
==>which produces the enzyme that breaks down phenylalanine, ==>therefore causing problems such as
- brain and
- nerve damage and
- seizures in humans with this condition.

If phenylalanine could be produced in human cells, it would
==>accumulate in the body of phenylketonurics
==>as they cannot metabolise it. ==>It would be MUCH HARDER TO CONTROL if humans produced this amino acid
==> bec.. currently phenylketonurics AVOID EXPOSURE BY LIMITING THEIR DIET
==>which would NOT BE POSSIBLEif it was PRODUCED BY OWN CELLS

18
Q

Why is haemoglobin said to have a quaternary structure?

A

As it is made up of
= 4 PROTEIN SUBUNITS
= quaternary structure (consist of more than one polypeptide chain)

***4 subunits linked tog
form a spherical molec

ea chain contains a heam group wh binds molecs of oxygen

19
Q

In terms of proteins produced, how does a
genetic mutation
lead to the disease
Duchenne muscular dystrophy?

A

Duchenne muscular dystrophy (DMD) is caused by MUTATIONS IN THE DYSTROPHIN GENE,

***NO FUNCTIONAL DYSTROPHIN PROTEIN is present IN MUSCLE CELLS

Dystrophin protein is REQUIRED FOR STRUCTURAL SUPPORT
(one of the major functions of protein) in muscle cells, so what happens with people with DMD is that their
==>MUS CELL MEMB. WEAKENED, and the
==>CELLS BURST
==>Muscle mass is progressively lost and sufferers (usually boys) mostly
==»>LOOSE ABILITY TO WALK by age 13 and
==»>do NOT LIVE LONGER than 25 years old

20
Q

Why could a
single base mutation that still resulted in a full-length protein

still cause an enzyme to become non-functional?

A

ENZYMES VERY SPECIFIC
due to the
STRUCTURE OF ACTIVE SITE.

==>Mutations can change the base sequence OF DNA
==> mutation can c. DIFFERENT AA to BE PRESENT that
==>AFFECTs THE FOLDING OF THE PROTEIN.
==>may produce an
ACTIVE SITE THAT IS WRONG SHAPE and so

=»> a NON-FUNCTIONAL ENZYME

21
Q

If NORMAL AMOUNTS OF HORMONE are produced in
- congenital hypothyroidism (note there is also a more common acquired form where hormone levels are altered), why do problems arise?

A

-f normal amounts of hormones are produced the condition is due to a
= DEFECTIVE
thyroid stimulation hormone RECEPTOR (TSHR) and also a and
= DEFECTIVE HORMONE (TSHB)

-a normal amount of hormone is produced yet NO RECEPTOR BINDING OCCURS

22
Q

If sickle cell disease can be deadly, why is the gene so common?

A

==> people w sickle cell anemia gene
==> more likely survive MALARIA
==>bec…cell can’t be as easily infected with malaria

  • **tf commonly found
  • AFRICAN
  • INDIAN ancestry
    bec. .carrying the trait gives advantage to surviving malaria

heterozygotes are still able to contract malaria
but SYMPTOMS LESS SEVERE

23
Q

Why does sickle cell haemoglobin change the shape of red blood cells?

A

==>at least one of the BETA-GLOBIN SUBUNITS in haemoglobin is
==>REPLACED W ATYPICAL MOLECULE (HAEMOGLOBIN S) ==>which can DISTORT RED BLOOD CELLS into a
==>sickle/crescent shape.

“POLYMERISATION”
creates long chains distorting the cell long-ways

24
Q

Hypertrophic cardiomyopathy is caused by a defective protein of which functional class?

A

= “CONTRACTILE PROTEIN functional class.”

Hypertrophic cardiomyopathy occurs if heart muscle cells enlarge and cause the walls of the ventricles (usually the left ventricle) to thicken.

caused by
= MUTATIONS IN A PROTEIN components of the THICK myofilaments

25
Q

Congenital hypothroidism can be caused by mutations in which two functional classes of proteins?

A

by a defective thyroid stimulating hormone receptor (TSHR)

or a defective hormone (TSHB)

26
Q

Name three substances that hormones can be made or derived from? x5

A
  1. Single amino acid = melatonin
  2. Steroids = testosterone
  3. Lipids = prostaglandins
  4. amine hormone = norepinephrine
  5. peptide hormone = oxytocin
27
Q

All babies are tested at birth for
- which two genetic diseases
covered in this lecture?

A

= PhenylketonURIA and
= congenital HYPOthyroidism

***heel prick = drop of blood

28
Q

In which REGION OF A CELL would you be likely to

- find transcription factors?

A

transcription factors bind to the
PROMOTOR REGION of DNA (in NUCLEUS of cell)

***BEFORE coding region in a gene.

29
Q

In which region of the cell would you be likely to

- find receptor proteins?

A

Receptor proteins(AKA transmembrane receptors)

are likely to be found
= SPANNING THE CELL MEMBRANE

30
Q

The human genome is 10 times the size of E. coli but only has 20 times more coding DNA. Explain.

A

E. coli CANNOT add diversity
through SLICING mRNA

so humans CAN DO MUCH MORE with their DNA.

31
Q

Give an example from immunology where multiple RNA copies are made from a single gene and explain the purpose this serves.

A

Multiple RNA COPIES are made
FROM A SINGLE GENE in the
= PRODUCTION OF ANTIBODIES

==>army of RNA (recipe cards)
==> going out into the cytoplasm
==> to ribosome
==> makes proteins

==>Lots of ribosomes
==>pump out antibodies from plasma cells
is why we need to have multiple RNA copies (recipe cards)
==> produce antibodies in large quantities

32
Q

Give an example from immunology where
- control of transcription is desirable

and explain why this must occur.

A

transcription = DNA ==> RNA

MANY RNA COPIES
can produce LARGE AMOUNTS of protein.

= Specifically for immunology control of
ANTIBODY PRODUCTION

==>CONTINUOUS PROD OF ABs
==>will TIRE THE BODY
==>due to LOSS OF PROTEIN

eg mass antibody production = MULTIPLE MYELOMA

  • cancer of B-cells
  • wh unregulated prod of UNSPECIFIC antibody.
33
Q

Why is having a degenerate genetic code a benefit?

A

It ALLOWS for genetic MUTATIONS and VARIATION which may not be lethal

It ALLOWS for 1 CODON to to be USED MULTIPLE TIMES in different genes. This means that the body can be “MATERIAL EFFICIENT”.

34
Q

Describe the shape of tRNA. Why does it have this shape?

A

tRNA has a FOLDED structure which

= PREVENTS it from being INTERPRETED AS mRNA

35
Q

From the lecture which foods have amino acids that aid in feeling sleepy?

Why do anti-histamines make you drowsy?

A
= MILK
= CHOCOLATE
 ***rich in tryptophan = aids in falling asleep
======
anti-histamine has an 
==>ANTI-CHOLINERGIC EFFECT 
==>BLOCKS NEUROTRANSMITTERS
==> results in drowsy state
36
Q

In this lecture we used the term HLA. What does it mean and why is it the same thing as MHC?

A

HLA = human (leucocyte – antigen) complex

leukocytes 
= macrophages and 
= dendritic cells 
DISPLAY PEPTIDES using these molecules (HLA)
iT is important in immunology. 

MHC1 is present on ALL BODY CELLS, that is why they also use the term HLA when talking immunology.