Question
(a) Cells of the immune system have cell surface receptors that detect molecules made by pathogens. One of these cell surface receptors is known as TLR8.
The gene TLR8 is found on the X chromosome in humans.
Fig. 4.1 shows the production of messenger RNA (mRNA) formed from the gene TLR8 in the nucleus of a macrophage.
DNA
site of attachment of enzyme transcription of DNA primary transcript
5′ AAAAAA---3′
cap stage Y poly(A) tail
mRNA 5′ AAAAAA---3′
Fig. 4.1
(i) Name the enzyme that catalyses the transcription of DNA.
…… [1]
(ii) Fig. 4.1 shows that the primary transcript is modified by the addition of nucleotides to both ends of the molecule.
The cap shown in Fig. 4.1 is a guanine nucleotide that is added to the 5′ end of RNA.
The poly(A) tail added to the 3′ end consists of many adenine nucleotides. The cap and the tail have a function in stage Y and are also important for the stability and role of mRNA.
Suggest the functions of the cap and the poly(A) tail in the stability and role of mRNA.
…… [2]
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(iii) Describe the process that occurs at stage Y in Fig. 4.1.
…… [3]
(b) The nucleotide sequence TTAGGG is repeated in the direction 5′ to 3′ in the telomeres of human chromosomes.
(i) State where in a chromosome the telomeres are found.
…… [1]
(ii) Outline the role of telomeres.
…… [3]
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(c) Melanoma is a type of tumour that develops from pigment-producing skin cells known as melanocytes.
Outline how a tumour may form from a melanocyte.
…… [4]
(d) A melanoma tumour is cancerous and may spread to other parts of the body.
T-vec is a new drug that has been developed to treat melanoma that has spread to other parts of the body, including lymph nodes.
T-vec contains a virus that infects some of the melanoma cells, causing the cells to burst and release their contents. Some of the contents of the melanoma cells act as cytokines and others act as antigens.
Explain the effects of the cytokines and antigens released from melanoma cells in stimulating the immune system to destroy the cancerous cells.
…… [5]
[Total: 19]
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Question 5 starts on page 16.
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Mark scheme
4(a)(i) RNA polymerase ; 1
4(a)(ii) any two from: 2
accept for either cap or poly(A) tail or both
1 protects mRNA from being, broken down / degraded / damaged, by enzymes ;
A protects mRNA from enzyme action
2 prevents mRNA molecules joining together ;
A prevents ends of a mRNA molecule joining
3 helps to, direct / move, mRNA, through nuclear pores / to ribosome(s) / to leave nucleus / to cytoplasm ;
4 required to start, translation / assembly of amino acids at ribosome ;
A helps / allows / AW, (mRNA) attachment to ribosome(s)
R refs to start and stop codons
5, 6 AVP ;; e.g. makes sure 5’ end enters ribosome first / AW
4(a)(iii) any three from: 3
1 gene / RNA, splicing ;
A primary transcript splicing
R DNA splicing / mRNA splicing / genetic splicing
2 introns removed ;
3 exons, attached together / joined up ;
R extrons
4 shortens / AW, the RNA molecule ;
5 removal of non-coding sequences / only keeping the coding sequences ;
A non-coding regions / AW
A non-coding introns
R non-coding / coding, genes
6 AVP ; e.g. rearranging exons / alternative splicing I annealing
ref. to phosphodiester bonds forming between RNA nucleotides / AW
ref to spliceosome
4(b)(i) (at the) ends / AW ; 1
A at the ends of, DNA / chromatids
I sides / edges
4(b)(ii) any three from: 3
1 allows DNA replication to, occur many times ;
2 allows (some) cells to carry out, many / continuous / repeated, mitoses / cell cycles / cell divisions ;
I cell replication
3 prevents the loss of, genes / genetic information ;
A prevents loss of coding sequences
I loss of DNA
I prevents loss of genetic material
4 AVP ; e.g. prevents fusion of chromosome ends
prevents ends of chromosomes being recognised as damaged
4(c) any four from: 4
1 mutation in a gene ;
2 leads to uncontrolled / unregulated, mitosis / cell division ;
3 proto-oncogene to oncogene ;
A ref. to oncogene in correct context (without the proto-)
4 ref. to tumour suppressor gene(s) ;
A in context of ‘switched off’
5 idea that normal (named) checkpoints do not function ;
A not checked during (named) stage of cell cycle
A bypass checkpoints / checkpoints not used
6 mass of, abnormal / non-functional / damaged, cells formed ;
A irregular / abnormal, mass of cells
I undifferentiated
7 AVP ; e.g. supplied with blood vessels
cells do not carry out, apoptosis / programmed cell death
cancer cells ignore stop signals from other cells / have no contact inhibition
4(d) any five from: 5
melanoma cell releases cytokines
1 cytokines stimulate, clonal expansion / division (by mitosis), of, T-lymphocytes / B-lymphocytes ;
A T-cells / B-cells
A T-helper cells / T-killer cells
2 cytokines stimulate (action of), macrophages / phagocytes ;
A form angry macrophages
3 cytokines act as cell-signalling molecules ;
melanoma cell releases antigens
4 antigens stimulate, clonal selection of (specific) B-lymphocytes / T-lymphocytes ;
A B- / T-, lymphocytes (with receptors / immunoglobulins / antibody) that are complementary to antigen
A T-cells / B-cells
A T-helper cells / T-killer cells
5 antigens, stimulate / AW, B-lymphocytes to divide (by mitosis) to form plasma cells ;
A clonal expansion of B-lymphocytes to form plasma cells
A if cytokines stated instead of antigens
6 plasma cells, secrete / release / produce, antibodies ;
7 antibodies mark cancer cells for destruction by, T-killer cells / macrophages / phagocytosis ;
8 killer cells, release / AW, perforin / granzymes / toxins / hydrogen peroxide / hydrolytic enzymes, to kill / destroy, (cancer)
cells ;
A description of how cell is killed e.g. breaks open / makes holes, in cell surface membrane
9 AVP ; e.g. proteins released from melanoma cell act as non-self antigens