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

A

Psort 2

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

A

Gfp

22
Q

Which program detects domains

A

Blast

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)

A

Net phos

25
Q

What can you do with detecting phosphorylation activity

A

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
Q

Which residues mimic phosphorylation

A

Aspartic acid and glutamic acid (both -ve)

27
Q

Why can’t you fully use sequencing of tf bs yox1 to advantage

A

Because you can’t be sure all genes with the sequence are regulated by it

28
Q

Which enzyme family can be analysed as a whole on whole genome

A

Kinase family