Genomics/genome Project Flashcards

1
Q

Gene sequences can be identified for chromosome maintenance what does this mean

A

Eg sequences which attach chromatids to spindle fibres. Mutations in these cause trisomy etc

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2
Q

How is dna sequenced

A

Broken into small fragments

Overlaps in sequences are used for computer to reconstruct the dna

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3
Q

Why is dna broken into fragments for analysis

A

Dna easier sequenced if it’s fragmented

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4
Q

Why is dna harder to to reconstruct in human genome sequencing

A

Many repeats so computer can’t determine fragment ends

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5
Q

Why are model organisms used

A

Smaller genome = saves cost

Less repeats = easier to reconstruct

No splicing usually = orf easier to find

Easy to manipulate after sequence is found

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6
Q

What makes human sequencing time consuming

A

4000 genes

Also 3 reading frames for each strand

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7
Q

Can computers detect sn rna splice sites

A

No

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8
Q

Why can sequencing eg yersinia pestis plague pathogen important

A

Identify the strain
Insight into their antibiotic resistance
Insight into how they infect

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9
Q

Why eukaryotic genome was first sequences

A

Cerevisiae

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10
Q

Why is genome sequencing of children in Ic unit important

A

Found 1/4 have undiagnosed genetics disorders hard to identify with symptoms alone

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11
Q

What 4 aspects of proteins is found by computer analysis

A

Function
Localisation
Modification
Domains

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12
Q

Why are model organisms good in predicting gene function

A

30% of cerevisiae are complete homologs to humans

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13
Q

Which mutated gene was sequenced in colon cancer cells

A

Msh2

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14
Q

What is the blast p value

A

Probability homology is by chance. If low then they are homologs

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15
Q

What function did msh2 have in yeast

A

Dna repair (explains cancer)

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16
Q

How can we identify cellular effects of msh2 mutation via model organisms and what was found

A

Mutate it same place as colon cancer cells

Found it affects protein protein interactions and has a reduced steady state

17
Q

Why is it important to understand cell effects of mutations using models like msh2

A

For targeted medicine

18
Q

How is computer analysis/genome project able to produce personalised medicines (pharmacogenetics)

A

It detects genetic variability in a population and can see how responsive people would be to eg diet supplements through sequencing

19
Q

Which program predicts protein localisation

20
Q

Why is p sort 2 beneficial

A

Localisation of protein can determine its function eg yox1 was localised in nucleus = regulator/tf

21
Q

Because p sort 2 isnt 100% what is done to detect localisation

22
Q

Which program detects domains

23
Q

why is identifying domains through blast beneficial and example

A

Tells you likely function

Yox1 has a homeodomain which is dbd suggesting it’s a tf

So now can find genes it regulates

24
Q

Which program identifies potential modifications (phosphorylation)

25
What can you do with detecting phosphorylation activity
Test effect it has on genes eg yox1 cell activity Test if it’s true by phosphorylation of same residue in vivo Test kinases
26
Which residues mimic phosphorylation
Aspartic acid and glutamic acid (both -ve)
27
Why can’t you fully use sequencing of tf bs yox1 to advantage
Because you can’t be sure all genes with the sequence are regulated by it
28
Which enzyme family can be analysed as a whole on whole genome
Kinase family