Midterm 1 - Notes 6 Flashcards

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1
Q

What percentage are protein coding regions in the human?

A

1.5%

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2
Q

How are genes placed throughout the body

A

They are scattered

  • flanked and interrupted by non-coding DNA
  • very messy
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3
Q

Are coding regions conserved or not conserved?

A

Conserved

- non coding regions are not

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4
Q

How % do introns make up of the human genome?

A

20%

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5
Q

The vast majority of Euk. have what?

A

Has no known function

  • half is unique sequences (introns)
  • other half is repeated sequences (junk DNA)
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6
Q

What % of the human genome is transcribed?

A

75%

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7
Q

What kind of change is histone modification?

A

Epigenetic change

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8
Q

Repetitive sequences (3)

A
  1. Long, but low copy
  2. Short, but many local repeats
  3. Intermediate length, scattered throughout the genome
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9
Q

What does 80% of the human genome made up of? (4)

A
  1. Transcribed
  2. Associated with modified histones
  3. Found in open chromatin areas
  4. Binding transcription factors
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10
Q

What do most Euk. have a large number of?

A

Transposons

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11
Q

Transposons

A

A chromosomal segment that can undergo transposition

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12
Q

What is another name for transposons?

A

Jumping genes

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13
Q

What can lead to duplication of transposons? (2)

A
  1. Excison

2. Reintegration

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14
Q

What are the 2 major categories of transposons?

A
  1. Tranpose as DNA (DNA transposons)

2. Transpose via RNA intermediate (retro-transposons)

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15
Q

Transpose as DNA (4)

A
  1. Involves transposase
  2. Cut and paste mechanism
    - cut out a piece of DNA and reverses it and makes it back to intermediate
  3. Can intergrate elsewhere into the genome at a random integration
  4. Can become a stable part of it
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16
Q

Transposase

A

Is an enzyme that binds to the end of a transposon and catalyzes the movement of the transposons to another part of the genome by a cut and paste mechanism or replicative transposition mechanism

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17
Q

Transpose via RNA intermediate (retro-transposons) (3)

A
  1. Involves reverse transcriptase and integrase
  2. Copy and paste mechanism
  3. Causes an amplification and duplication
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18
Q

What was the study of discovery of transposons done on?

A

Maize

19
Q

Gene C

A

Necessary for kernel colour development

20
Q

What was c/c phenotype?

A

White kernels

- mutant

21
Q

What was C/C phenotype?

A

Purple kernels

- wildtype

22
Q

What kind of markers were used in the maize study?

A

Morphological markers

23
Q

What 2 things can happen when an Ac (a dominant allele) is present in c/c?

A
  1. High frequency of revertants back to C/c
  2. Revertants can affect whole kernel or only sectors
    - the earlier in development reversion happens, the larger the wildtype sector
24
Q

What caused the mutation in C-gene?

A

Integration of another genetic element called Ds

25
Q

What is reversion caused by?

A

Dissociation of Ds from C-locus

26
Q

What was the advantage to using maize?

A

Each kernel contains a seedling from one plant that came from the true parents

27
Q

When can Ds only move?

A

When Ac is present

28
Q

What can Ds and Ac both do?

A

Can change location in the genome

29
Q

What are Ds and Ac?

A

Transposons

30
Q

What element is Ds?

A

Non-autonomous

31
Q

What element is Ac?

A

Autonomous

32
Q

Excision of Ds during kernel development causes what?

A

Reversion to wildtype phenotype in affected sectors

33
Q

What does Ds not encode for?

A

Proteins for movement

34
Q

Can Ds be moved?

A

Yes

35
Q

What does the insertion of Ds into the genome disrupt? (2)

A
  1. The C gene

2. Effects kernel colour

36
Q

What does Ds cause when it moves?

A

A mix pigment of mutant and wildtype

37
Q

What did Barbar McMlintock discover?

A

Jumping genes and transposition

- 1940-1950s

38
Q

When did Barbar receive her nobel prize?

A

1983

39
Q

What are 4 reasons why Barbar did not receive her prize till 1983?

A
  1. Peer discrimination
    - eccentric and a women
  2. Study seemed only limited to maize
    - but then was expanded to bacteria
  3. Only fully appreciated when it came on a larger scale
  4. MAIN REASON = she miss interpreted her results as a regulatory mechanism, not as a random process
40
Q

Ds integration into C

A

A repressor of gene C activity

41
Q

Ac

A

A repressor of the repressor

- eg. an activator of gene C

42
Q

What was Barbars hypothesis? (3)

A
  1. If Ds located away from target gene = no repression
  2. Ac activates Ds translocation into target gene = repression
  3. Ds translocation reversible by Ac action (dissociation) = no repression
  • all to do with gene control mechanism
43
Q

Did Barbars hypothesis hold true?

A

NOPE