T8 The control of Gene expression Flashcards
Increased methylation of the promoter region of a tumour suppressor gene causes one type of human throat cancer.
In this type of throat cancer, cancer cells are able to pass on the increased methylation to
daughter cells. The methylation is caused by an enzyme called DNMT.
Scientists have found that a chemical in green tea, called EGCG, is a competitive inhibitor of
DNMT. EGCG enables daughter cells to produce messenger RNA (mRNA) from the tumour suppressor gene. Suggest how EGCG allows the production of mRNA in daughter cells. 3 marks
- (EGCG) binds to active site of DNMT;
Ignore active site changes shape
Ignore ‘forms enzyme-substrate’ complex - (DNMT) cannot methylate (promoter region of tumour suppressor gene);
- Transcription(al) factor(s) can bind (to promoter region);
- RNA polymerase (stimulated/activated);
Accept less methylation (of promoter region/tumour suppressor
gene)
Myelodysplastic syndromes (MDS) are a group of malignant cancers. In MDS, the bone marrow does not produce healthy blood cells.
Haematopoietic stem cell transplantation (HSCT) is one treatment for MDS. In HSCT, the patient receives stem cells from the bone marrow of a person who does not have MDS. Before the
treatment starts, the patient’s faulty bone marrow is destroyed.
2.
(a) For some patients, HSCT is an effective treatment for MDS.
Explain how. 3 marks
- Produce healthy (blood) cells;
Accept produce ‘normal’ /non-MDS cells. - No MDS/faulty/cancerous (blood) cells;
Produce only healthy/normal (blood) cells = two marks.
Accept no (cancerous) tumour. - Stem cells divide/replicate;
Ignore reference to totipotent/pluripotent/ multipotent/unipotent
Accept ‘clone’ for divide.
MDS can develop from epigenetic changes to tumour suppressor genes. In some patients,
the drug AZA has reduced the effects of MDS. AZA is an inhibitor of DNA
methyltransferases. These enzymes add methyl groups to cytosine bases.
Suggest and explain how AZA can reduce the effects of MDS in some patients. 3 marks
- (AZA) reduces methylation (of DNA/cytosine/gene);
Reject any reference to mutation. - (Tumour suppressor) gene is transcribed/expressed;
Accept mRNA produced for transcription/transcribed.
Ignore gene is ‘switched on’ or activated but allow protein is formed. - Prevents rapid/uncontrollable cell division
OR
Cell division can be controlled/stopped/slowed;
Ignore growth.
The control patients of cancer experiments were treated with conventional drugs.
Give a reason why. 1 mark
- Unethical not to treat (control group);
Explain how the methylation of tumour suppressor genes can lead to cancer. 3 marks
- Methylation prevents transcription of gene;
- Protein not produced that prevents cell division / causes cell death / apoptosis;
- No control of mitosis.
The scientists used tumour area as an indicator of tumour size.
Explain why tumour area may not be the best indicator of tumour size and suggest a more
reliable measurement. 2 marks
- Tumours may be different depths / area does not take depth into account /
tumours are 3-D / are not 2-D;
Neutral: different sizes
Accept: height / thickness for depth - (Measure) tumour volume / mass / weight.
Describe how alterations to tumour suppressor genes can lead to the development of tumours. 3 marks
- (Increased) methylation (of tumour suppressor genes);
Accept abnormal methylation or hypermethylation
Ignore decreased acetylation of histones - Mutation (in tumour suppressor genes);
- Tumour suppressor genes are not transcribed/expressed
OR
Amino acid sequence/primary structure altered;
Accept mRNA for transcription/transcribed
Accept tertiary structure altered
Accept different amino acid
Ignore reference to protein not being formed - (Results in) rapid/uncontrollable cell division;
Accept cell division cannot be regulated
Ignore growth
MM is a skin cancer
MM is caused by a faulty receptor protein in cell-surface membranes.
Cells in MM tumours can be destroyed by the immune system.
Suggest why they can be destroyed by the immune system. 4 marks
- Faulty protein recognised as an antigen / as a ‘foreign’ protein;
- T cells will bind to faulty protein / to (this) ‘foreign’ protein;
- (Sensitised) T cells will stimulate clonal selection of B cells;
- (Resulting in) release of antibodies against faulty protein.
Sickle cell disease (SCD) is a group of inherited disorders. People with SCD have sickle-shaped
red blood cells. A single base substitution mutation can cause one type of SCD. This mutation
causes a change in the structure of the beta polypeptide chains in haemoglobin.
(a) Explain how a single base substitution causes a change in the structure of this polypeptide.
Do not include details of transcription and translation in your answer. 3 marks
1. Change in (sequence of) amino acid(s)/primary structure;
Reject amino acids are formed.
Reject amino acids code.
2. Change in hydrogen/ionic/disulfide bonds;
3. Alters tertiary/30
structure;
Reject active site.
Ignore quaternary.
Ignore 3D.
What is a substitution mutation? 1 mark
- Replacement of a base by a different base (in DNA);
SCD: Sickle cell disease
Haematopoietic stem cell transplantation (HSCT) is a long-term treatment for SCD. In HSCT, the
patient receives stem cells from the bone marrow of a person who does not have SCD. The
donor is often the patient’s brother or sister. Before the treatment starts, the patient’s faulty bone
marrow cells have to be destroyed.
(b) Use this information to explain how HSCT is an effective long-term treatment for SCD. 3 marks
1. Produce healthy (red blood) cells
OR
Produce (normal) polypeptide/haemoglobin;
Produce only healthy (red blood) cells is only equivalent
to mark point 1.
Accept produce ‘normal’/non-SCD cells.
Ignore type of stem cell e.g. pluripotent.
2. No sickle/faulty/SCD (red blood) cells (produced)
OR
No defective polypeptide/haemoglobin;
3. Stem/marrow cells (continuously) divide/replicate
OR
Less chance of rejection (from brother/sister);
Differentiate is not equivalent to divide/replicate.
Ignore type of stem cell e.g. pluripotent.
Suggest how gel electrophoresis separated the proteins obtained from the synapses. 2 marks
Forget that they’re from the synapses. How do they separate
- (Depends on) size / mass (of protein);
- (Depends on) charge (of protein);
Accept for 2 marks ‘Smaller / more highly charged move further’
Each type of labelled antibody binds specifically to one of the proteins.
Explain why. 3 marks
- Each protein has a different tertiary structure;
- (Each) antibody has a specific antigen / binding / variable region / site;
- So, (each antibody) forms different antigen-antibody complex
OR
(each antibody) only binds to complementary (protein);
Each year, a few people with type I diabetes are given a pancreas transplant. Pancreas transplants are not used to treat people with type II diabetes.
Give two reasons why pancreas transplants are not used for the treatment of type II diabetes. 2 marks
- (Usually)Type II produce insulin;
- Cells / receptors less sensitive / responsive (to insulin)
OR
Faulty (insulin) receptors; - (Treated / controlled by) diet / exercise;
- Accept: cells / receptors do not respond.
- Accept: ‘fewer receptors’
- Accept: (Treated / controlled by) weight loss / medication /
drugs. - Ignore: diabetes is caused by diet / exercise.
The pancreas produces the hormone insulin.
Put a tick (✔) in the box next to the statement which describes incorrectly the action of
insulin. 1 mark
Activates enzymes involved in the conversion of glucose to glycogen.
Controls the uptake of glucose by regulating the inclusion of channel proteins in the surface membranes of target cells.
Attaches to receptors on the surfaces of target cells.
Activates enzymes involved in the conversion of glycerol to glucose.
Box 4
Scientists investigated the use of induced pluripotent stem cells (iPS cells) to treat type I diabetes in mice. The scientists used four transcription factors to reprogramme skin cells to form iPS cells. The scientists then stimulated the in vitro differentiation of iPS cells into
pancreatic cells.
Suggest how transcription factors can reprogramme cells to form iPS cells 2 marks
- Attach to gene / DNA / promoter region;
- Stimulate / inhibit transcription / RNA polymerase;
Note: Genes being expressed / inhibited or switched on / off is not
enough on its own.
Scientists have investigated the use of different types of stem cell to treat damage to the heart
after a myocardial infarction. During a myocardial infarction, a number of different cell types in the
heart die. This includes cardiomyocytes which are heart-muscle cells.
Embryonic pluripotent stem cells (ESCs) can divide and differentiate into a wide range of different
cell types.
3.
(a) Using the information given, suggest one reason why ESCs might be suitable to treat damage to the heart. 1 mark
- (ESCs) can replace any type of (heart) cell;
Accept named type of cell, e.g. heart muscle cell
The scientists used an optical microscope to measure the number of capillaries in thin
sections cut from samples of heart muscle.
Describe the method they would have used to find the mean number of capillaries
per mm2. 4 marks
- Measure diameter of field of view and calculate area;
- Using micrometer slide and eyepiece graticule;
Accept descriptions - Count number of capillaries in large number of fields of view and calculate mean;
- Select fields of view randomly
SCID is a severe inherited disease. People who are affected have no immunity. Doctors carried out a trial using gene therapy to treat children with SCID. The doctors who carried out the trial obtained stem cells from each child’s umbilical cord.
(a) Give two characteristic features of stem cells. 2 marks
Will replace themselves / keep dividing / replicate;
Undifferentiated / can differentiate / develop into other cells / totipotent / multipotent /
pluripotent;
Accept tissues
One of the viral enzymes makes a DNA copy of the virus RNA. Name this enzyme. 1 mark
Reverse transcriptase;
Allow phonetic spelling
The other viral enzyme apart from reverse transcriptase is called integrase. Integrase inserts the DNA copy anywhere in the DNA
of the host cell. It may even insert the DNA copy in one of the host cell’s genes.
(c) (i) The insertion of the DNA copy in one of the host cell’s genes may cause the cell to make a non-functional protein. Explain how. 2 marks
Alters base / nucleotide sequence / causes frame shift;
Different sequence of amino acids in polypeptide / protein / primary structure
alters the tertiary structure;
Accept any reference, such as adding bases, to changing the base
sequence of the gene. Reject deletion / substitution.
Idea of sequence essential so not makes different amino acids.
Accept answers involving stop / start codons and effect on protein.
One method of transferring RNAi molecules into cells involves combining these molecules with a lipid. Suggest why this increases uptake of RNAi molecules into cells. 1 mark
(Cell/membrane has a) phospholipid bilayer
OR
No channel/carrier protein (for uptake)
OR
No need for channel/carrier protein (for uptake);
Define what is meant by epigenetics. 2 marks
- Heritable changes in gene function;
- Without changes to the base sequence of DNA;
Give one way in which benign tumours differ from malignant tumours. 1 mark
Cells of benign tumours cannot spread to other parts of the body / metastasise;
OR
Cells of benign tumours cannot invade neighbouring tissues.
Accept answers clearly in the context of malignant tumours.