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Biology paper 2 > 20- Gene expression > Flashcards

20- Gene expression Flashcards

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1
Q

What are the 6 types of mutation?

A 
Addition
Deletion
Duplication
Inversion
Substitution
Translocation (ADDIST)
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2
Q

What is the inversion mutation?

A

Inversion=Order of bases are inverted in DNA sequence.

e.g. ATCGTT> TTGCTA

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3
Q

What is the translocation mutation?

A

Translocation= section of sequence is moved to ANOTHER section

-can be within & across chromosomes-

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4
Q

What is the minimal effect of a mutation on amino acid sequence?

A

Substitution= Change to only ONE triplet codon

The new codon sometimes codes for the same amino acid and no change occurs in the protein

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5
Q

Effect of addition, deletion, or duplication

A

ALL base triplets downstream from mutation change (frame shift).
This impacts many amino acids so very likely protein will not function as normal.

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6
Q

Causes of mutation= (2)

A
  1. DNA replication (spontaneous)

2. Mutagenic agents

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7
Q

4 main types of stem cell

A

Totipotent
Pluripotent
Multipotent
Unipotent

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8
Q

Features of totipotent cells

A
  • Can divide & differentiate into ANY type of cell

- occur for LIMITED time in embryonic development

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9
Q

Features of pluripotent cells=

A
  • able to divide into UNLIMITED numbers & produce any type of cell
  • TC’s develop into these in embryos
  • PC can be used to treat human disorders
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10
Q

Features of Multipotent cells=

A
  • found in mature mammals
  • can develop into LIMITED number
    of cell types
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11
Q

Features of Unipotent cells=

A
  • found in mature mammals

- can divide to produce only ONE type of cell (cardiomyocytes?)

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12
Q

Which of the 4 types of stem cell is the most UNSPECIALISED

A

totipotent

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13
Q

which 2 types of stem cell are found in embryos?

A

totipotent

pluripotent

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14
Q

which 2 types of stem cell are found in mature mammals?

A

multipotent

unipotent

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15
Q

How are IPS cells produced

A

somatic cells converted to IPS by activating genes using protein transcription factors
(they then become unspecialised)

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16
Q

Benefits of IPS (2)

A
  1. No ethical concerns (as made from patients own body cells)
  2. Less risk of rejection during transplants (as made from patients own body cells)
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17
Q

Stem cells can be taken from: (3)

A
  1. Adult stem cells
  2. Embryonic stem cells
  3. Induced pluripotent stem cells (IPS)
18
Q

Benefits of stem cells use in treating human disorders

A
  1. can reduce preventable deaths

2. Can treat conditions that decrease quality of life

19
Q

Disadvantages of using stem cells in treating human disorders

A
  1. Ethical controversy surrounding embryo use (some believe you are depriving a life)
20
Q

Specific stem cell use= (3)

A
  1. Bone marrow transplants
  2. Drug research
  3. Developmental biology
21
Q

What are Transcription factors?

A

proteins that control gene expression via STIMULATING or INHIBITING transcription.

22
Q

Transcription factors- ACTIVATORS

A

TF’s that STIMULATE gene expression

by interacting with enzyme RNA polymerase and allowing it to bind to DNA

23
Q

Transcription factors- REPRESSORS

A

TF’s that INHIBIT gene expression

they stop RNA polymerase from binding to DNA, preventing transcription

24
Q

Role of oestrogen in initiating transcription (4)

A
  1. oestrogen is lipid-soluble, passes through PLBL > cytoplasm
  2. binds to inactive TF which forms receptor-hormone complex & changes shape
  3. enters and binds to promoter region of DNA
  4. stimulates T of genes by helping RNA polymerase bind.
25
Q

How epigenetics controls gene expression

A
  • epigenetic regulation interacts with DNA to control ACCESS to DNA
  • controlling access ALTERS gene expression without actually changing the DNA code
26
Q

Causes of heritable epigenetic changes in gene function= (2)

A
  1. Increased methylation

2. Decreased Acetylation

27
Q

Increased methylation process= (3)

A
  • nucleosome more tightly packed
  • when more condensed TF’s cant bind
  • genes not transcribed
28
Q

Decreased Acetylation process= (4)

A
  • Decreased a increases + charge of histones
  • Histones bind to DNA (-charged) more TIGHTLY)
  • Prevents TF’s binding
  • Genes not transcribed
29
Q

What is chromatin?

A

DNA & histone combination

30
Q

What happens if methylation is DECREASED too much?

A
  • Can INCREASE expression of pro-oncogenes (which promotes cell division)
  • so cells divide uncontrollably & tumours produced
31
Q

Impact of RNA interference?

A

translation of the mRNA produced from target genes is inhibited

^ this prevents gene expression

31
Q

RNA interference process (2)

A
  • RNAi interferes with mRNA by binding to mRNA molecule & breaking it down
  • this means mRNA cannot be translated into a protein
32
Q

Benign tumour features=

A
  • Not cancerous
  • normal nuclei
  • Dividing cells cannot spread & invade other tissues
33
Q

Malignant tumour features= (4)

A
  • Grow rapidly
  • Dividing cells can spread & invade other tissues & around the body
  • Can be life-threatening
  • irregular, enlarged nuclei
34
Q

Ways tumours can develop=

A
  1. Increased methylation of TSGs:
    (this inhibits TSG’s which usually inhibit CD so CD)
  2. Oncogenes:
    (cause excessive cell division)
  3. Oestrogen
    (causes increased expression of genes, which can lead to a tumour developing)
35
Q

Environmental and genetic factors that can increase likelihood of developing cancer= (4+1)

A 
Environmental= 
    - radiation exposure
    - smoking
    - alcohol consumption
    - diet high in fat
Genetic=
     - Certain alleles (e.g. BRCA1)
36
Q

(e.g. Cancer) when interpreting correlations in graphs what other factors need to be considered?

A
  • Age
  • Gender
  • Sample size
  • variation in lifestyle (e.g. exercise)
  • changes in lifestyle provision
37
Q

Proteome definition=

A

complete set of proteins expressed by an organism

38
Q

What are coding genes?

A

genes that contribute to the proteome (used to produce proteins)

39
Q

what can genome projects be used for? (3)

A
  1. medical advances (identify genes responsible for inherited diseases & target for drug treatment)
  2. biotechnology
  3. discover evolutionary relationships
39
Q

what means that knowledge of the genome cannot easily be translated into the proteome

A
  • Non-coding DNA

- Regulatory genes

Biology paper 2 (13 decks)

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