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IMS > Topic 1 (Genomes) > Flashcards

Topic 1 (Genomes) Flashcards

1
Q

How many Autosomes

A

22

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2
Q

Which autosome is the biggest?

A

1

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3
Q

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

A

Megaokaryocytes

4n

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4
Q

Barr bodies

A

Inactivated X chromosome

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5
Q

Xist

A

microRNA regulatory RNA

Inactivates X chromosome

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6
Q

What is synteny

A

Long DNA sequence present in same order across species

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7
Q

give an example of synteny

A

X + Y across man / mouse

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8
Q

Which cells host translocations

A

Germ cells

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9
Q

What disease can arise from translocation

Which chromosomes are involved?

A 
Philadelphia Chromosome (Chronic Myeloid Leukaemia) 
9--> 22
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10
Q

How are pseudogenes formed? (2)

A

Gene Duplication // Reverse Transcriptase

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11
Q

How does RT play a role in pseudogene formation?

A

No promotor upstream therefore no transcription

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12
Q

How does gene duplication play a role in pseudo formation

A

gene mutations can occur from duplication = inactive

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13
Q

What is the name of repeated short sequences?

A

Variable Number Tandem Repeats

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14
Q

What causes VNTR

A

Slippage of Polymerase

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15
Q

Name a disease that can arrise from VNTR

A

Huntingtons Disease

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16
Q

How does Huntingtons Disease occur from VNTR

A

Increased #CAG codons = abnormal glutamine residues

neuron degeneration

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17
Q

GWAS

A

Genome Wide Association Studies

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18
Q

ANRIL

A

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

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19
Q

Polysome

A

mRNA covered in chain of ribosomes

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20
Q

Cytosol

A

thick liquid / gel surrounding organelles

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21
Q

Cytoplasm

A

Cytosol + Organelles but no nucleus

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22
Q

Where are nuclear proteins synthesised?

A

In cytosol

Transported back into nucleus

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23
Q

Where are mitochondrial proteins made?

A

Made by polysomes in cytoplasm

Imported into mitochondria

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24
Q

What does RNA polymerase 1 do

A

Transcribes Ribosomal RNA

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25
Q

What does RNA polymerase 3 do

A

Transcribes tRNA

26
Q

What can be present in mitochondria to translate mRNA

A

Mitochondrial ribosomes

27
Q

Give an example of a promotor element

A

TATA box

28
Q

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

A

Lowest energy base pairing

Easiest to unwind

29
Q

How far back can a TATA box be

A

25bp

30
Q

Whats the difference between ribose and deoxyribose

A

ribose - OH on C2

deoxyribose - H on C2

31
Q

RNA polymerase 2 is involved with what?

A

Transcription of mRNA

32
Q

What allows RNA polymerase 2 to bind to template strand

A

Transcription factors bind to promotor region (TATA)

33
Q

What are distal elements

A

Stretch proximal enhancers / silencers

34
Q

When are distal elements used in

A

Tissue specific regulated transcription

35
Q

With CpG islands, what does these islands protect from

A

Cysteine is protected from methylation

36
Q

If methylation of a CpG islands occurs, what happens?

A

turning off expression of a gene

37
Q

When does methlyation of CpG islands occur?

A

In inactivation of X chromosome

38
Q

What does CpG islands mysteriously transcribe?

A

non-coding RNA

39
Q

how many AA are added in poly A tail

A

150-250

40
Q

What protein doesnt have a poly A tail

A

Histone

41
Q

Amino acid involved with capping.

what prime end?

A

Glycine

5’

42
Q

What is the loop called in splicing

A

Lariat

43
Q

Polycistronic

A

when a particular gene codes for more than one protein

44
Q

Where is the GU nucleotide found

A

3’ upstream of intron

45
Q

Where is the AG nucleotide found

A

5’ downstream of intron

46
Q

B globin is regulated by what?

A

Locus Controlling Region (LCR)

47
Q

How does the LCR work?

A

Forms a loop / self containing unit

Allows expression of particular genes within Locus

48
Q

The stretch of amino acids that attaches to ribosome is called what?

Whats special about it?

How many AA are there?

A

Signal sequence

Hydrophobic

20AA

49
Q

What does the signal sequence cause the ribosome to do?

A

Bind to the ER

50
Q

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

A

Signal sequence (N terminus)

51
Q

How are transmembrane proteins formed?

Examples of AA

A

Stretch of 20 Hydrophobic AA embed in bilayer

Valine , Alanine , Leucine

52
Q

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

A

ER proteins folded

Disulphide bridges formed from cysteine

Sugar side chains added

53
Q

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

A

Regulated Secretion

54
Q

What type of secretion would be the liver

A

Continuous secretion

55
Q

What causes a vesicle to go to a lysosome

A

Addition of a phosphate to mannose in ER

56
Q

What are the 3 stages of insulin

A

Preproinsulin

Proinsulin

Insulin

57
Q

What happens with preproinsulin

A

Signal sequence cut off in ER

Leaving inactive chain

58
Q

What happens with proinsulin

A

Disulphide bonds form between A + B chain

59
Q

What happens with insulin

A

C chain peptide cleaved away by proteases

to form active form

60
Q

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

A

Frameshift Mutation

IMS (25 decks)

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