Topic 1 (Genomes)

Question 1

How many Autosomes

Answer 1

22

Question 2

Which autosome is the biggest?

Answer 2

1

Question 3

Which type of cells copy without dividing? (In terms of N?)

Answer 3

Megaokaryocytes

4n

Question 4

Barr bodies

Answer 4

Inactivated X chromosome

Question 5

Xist

Answer 5

microRNA regulatory RNA

Inactivates X chromosome

Question 6

What is synteny

Answer 6

Long DNA sequence present in same order across species

Question 7

give an example of synteny

Answer 7

X + Y across man / mouse

Question 8

Which cells host translocations

Answer 8

Germ cells

Question 9

What disease can arise from translocation

Which chromosomes are involved?

Answer 9

Philadelphia Chromosome (Chronic Myeloid Leukaemia) 
9--> 22

Question 10

How are pseudogenes formed? (2)

Answer 10

Gene Duplication // Reverse Transcriptase

Question 11

How does RT play a role in pseudogene formation?

Answer 11

No promotor upstream therefore no transcription

Question 12

How does gene duplication play a role in pseudo formation

Answer 12

gene mutations can occur from duplication = inactive

Question 13

What is the name of repeated short sequences?

Answer 13

Variable Number Tandem Repeats

Question 14

What causes VNTR

Answer 14

Slippage of Polymerase

Question 15

Name a disease that can arrise from VNTR

Answer 15

Huntingtons Disease

Question 16

How does Huntingtons Disease occur from VNTR

Answer 16

Increased #CAG codons = abnormal glutamine residues

neuron degeneration

Question 17

GWAS

Answer 17

Genome Wide Association Studies

Question 18

ANRIL

Answer 18

Non coding RNA that can contribute increased risk of heart disease // diabetes

Question 19

Polysome

Answer 19

mRNA covered in chain of ribosomes

Question 20

Cytosol

Answer 20

thick liquid / gel surrounding organelles

Question 21

Cytoplasm

Answer 21

Cytosol + Organelles but no nucleus

Question 22

Where are nuclear proteins synthesised?

Answer 22

In cytosol

Transported back into nucleus

Question 23

Where are mitochondrial proteins made?

Answer 23

Made by polysomes in cytoplasm

Imported into mitochondria

Question 24

What does RNA polymerase 1 do

Answer 24

Transcribes Ribosomal RNA

Question 25

What does RNA polymerase 3 do

Answer 25

Transcribes tRNA

Question 26

What can be present in mitochondria to translate mRNA

Answer 26

Mitochondrial ribosomes

Question 27

Give an example of a promotor element

Answer 27

TATA box

Question 28

What does the TATA box produce? Why does it produce these nucleotides (2)

Answer 28

Lowest energy base pairing Easiest to unwind

Question 29

How far back can a TATA box be

Answer 29

25bp

Question 30

Whats the difference between ribose and deoxyribose

Answer 30

ribose - OH on C2 deoxyribose - H on C2

Question 31

RNA polymerase 2 is involved with what?

Answer 31

Transcription of mRNA

Question 32

What allows RNA polymerase 2 to bind to template strand

Answer 32

Transcription factors bind to promotor region (TATA)

Question 33

What are distal elements

Answer 33

Stretch proximal enhancers / silencers

Question 34

When are distal elements used in

Answer 34

Tissue specific regulated transcription

Question 35

With CpG islands, what does these islands protect from

Answer 35

Cysteine is protected from methylation

Question 36

If methylation of a CpG islands occurs, what happens?

Answer 36

turning off expression of a gene

Question 37

When does methlyation of CpG islands occur?

Answer 37

In inactivation of X chromosome

Question 38

What does CpG islands mysteriously transcribe?

Answer 38

non-coding RNA

Question 39

how many AA are added in poly A tail

Answer 39

150-250

Question 40

What protein doesnt have a poly A tail

Answer 40

Histone

Question 41

Amino acid involved with capping. what prime end?

Answer 41

Glycine 5'

Question 42

What is the loop called in splicing

Answer 42

Lariat

Question 43

Polycistronic

Answer 43

when a particular gene codes for more than one protein

Question 44

Where is the GU nucleotide found

Answer 44

3' upstream of intron

Question 45

Where is the AG nucleotide found

Answer 45

5' downstream of intron

Question 46

B globin is regulated by what?

Answer 46

Locus Controlling Region (LCR)

Question 47

How does the LCR work?

Answer 47

Forms a loop / self containing unit Allows expression of particular genes within Locus

Question 48

The stretch of amino acids that attaches to ribosome is called what? Whats special about it? How many AA are there?

Answer 48

Signal sequence Hydrophobic 20AA

Question 49

What does the signal sequence cause the ribosome to do?

Answer 49

Bind to the ER

Question 50

What is cut off in the lumen of ER with translation?

Answer 50

Signal sequence (N terminus)

Question 51

How are transmembrane proteins formed? Examples of AA

Answer 51

Stretch of 20 Hydrophobic AA embed in bilayer Valine , Alanine , Leucine

Question 52

What happens in RER with bridges / sugar chains /protein folding

Answer 52

ER proteins folded Disulphide bridges formed from cysteine Sugar side chains added

Question 53

What type of secretion would be Beta cells + insulin be?

Answer 53

Regulated Secretion

Question 54

What type of secretion would be the liver

Answer 54

Continuous secretion

Question 55

What causes a vesicle to go to a lysosome

Answer 55

Addition of a phosphate to mannose in ER

Question 56

What are the 3 stages of insulin

Answer 56

Preproinsulin Proinsulin Insulin

Question 57

What happens with preproinsulin

Answer 57

Signal sequence cut off in ER Leaving inactive chain

Question 58

What happens with proinsulin

Answer 58

Disulphide bonds form between A + B chain

Question 59

What happens with insulin

Answer 59

C chain peptide cleaved away by proteases to form active form

Question 60

If an nucleotide changes the entire AA sequence leading to a no active protein, what mutation is this called?

Answer 60

Frameshift Mutation