Cellular Control 6.1 Flashcards

1
Q

Define gene mutation

A

Gene mutations are a random change to the genetic material

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2
Q

Where can mutations occur?

A

Mutations can be on either chromosomes or on genes

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3
Q

Compare mutations affecting mitosis and those affecting meiosis

A

Mutations affecting mitotic division are called somatic mutations and they are not inherited
Mutations affecting meiosis and gamete formation do get inherited

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4
Q

What are 3 things that cause mutations?

A

Causes of mutations:

  • mutagenic chemicals
  • replication errors
  • high energy ionising radiation
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5
Q

What is a point mutation? Types?

A

point mutations are where one base is substituted for another
silent, missense, nonsense

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6
Q

Describe a silent mutation and why they are this way?

A

Silent mutations are a type of point mutation where the change to a base does not result in a different amino acid so nothing changes.This is because the DNA code is degenerate

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7
Q

Describe missense mutation

A

Missense mutations are point mutations where the base substitution results in a different amino acid being formed so primary structure of protein changes causing the tertiary structure to change meaning the protein is no longer able to do its function

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8
Q

Describe nonsense mutations

A

Nonsense mutations, a type of point mutation, is where the base substituted codes for a STOP codon creating a truncated protein that will get degraded

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9
Q

What is an indel mutation?

A

Indel mutations are insertion or deletion of one or more nucleotide causing a frame shift (DNA is non overlapping).
Insertions or deletions in multiples of three result in the addition or deletion of an entire amino acid

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10
Q

What happens when multiples of three nucleotides get inserted or deleted together?

A

Insertions or deletions of multiples of three result in the addition or deletion of an entire amino acid

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11
Q

Are all mutations harmful?

A

Not all mutations are harmful some result in variation in the population like eye colour

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12
Q

What is expanding triplet nucleotide repeats?

A

Expanding nucleotide repeats are where you naturally have a repeating triplet and these increase in number in meiosis. After a certain threshold having a certain number of repeating triplets can cause disease

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13
Q

Discuss rate pof enzyme synthesis

A

Enzymes catatlysing metabolic reactins in basic functions are synthesised at a constant rate
Enzymes that are only sometimes needed under certain conditions are synthesised are varying rates

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14
Q

What do E.coli usually metabiolise? Wghat might they do instead?

A

E.coli usuallly metabolises glucose but if glucose is absent then it will metabolise lactose

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15
Q

What does the metabolising of lactose cause?

A

Lactose metabolism instead of glucose in E.coli induces prodcution of lactose permease (allows lactose entry into the cell) and beta galactocidase (breaks down lactrose into glucose and galactose)

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16
Q

What is an operon?

A

Operon= genes that may function as a single trnascriptionunit

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17
Q

Desrcibe the structure of lac operon

A

Lac operon:

  • Regulatory gene encodes for the repressor protein lac I
  • Control sites: p- promoter region and lac O- operator region
  • structural genes: Lac z codes for beta galactocidase and Lac Y which codes for lactose permease
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18
Q

What happens with the lac operon in the absence of lactose?

A

Absence of lactose:
Lac I binds to operator region blocking RNA polymerase from binding to the promoter region. This therefore prevents transcription of lac z and lac Y so enzymes arent produced

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19
Q

What happens with the lac operon in the absence of glucose?

A

Absence of glucose:
Lactose binds to lac I, changing its conformational shape so it can no longer bind to the operator region. RNA polymerase can now bind to the promoter, transcribing the genes lac z and lac y so enzymes are made

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20
Q

Describe and define transcription factors

A

Transcription factors act in the nucleus and have sites that bind to specific sequences of DNA bases inhibiting or activating transcription of the gene. They are proteins or non coding RNA.

21
Q

How can the transcription factors be regulated?

A

Regulation of transcription factors:

  1. Transcription factor diffuses into the cell and a molecule binds to this
  2. Transcription factor changes shape, activating it,
  3. Transcription factor binds too DNA activating genes by increasing the affinity of RNA polymerase to the promoter region
22
Q

If promoter region is far from its gene what does it do?

A

The promoter region can loop to reach the gene it is controlling

23
Q

Discuss post transscriptional gene regulation

A

Post transcriptioonal gene regulation:

  1. All DNA gets transcribed, introns and exons, resulting in primary mRNA.
  2. This gets spliced by endonucleases which removes introns leaving only exons
  3. Splicing can happen in different ways sona length of DNA can be spliced to code for more than one protein
24
Q

What happens to introns?

A

Introns can be used for gene regulation or degraded

25
Q

Define introns and exons

A

Introns are non coding regions of DNA (intron is like interrupting)
Exons are coding regions of DNA

26
Q

Discuss post translational leveel gene expression (how proteins are activated)

A

Post translational level gene expression:
proteins get activated by phosphorylation
1. signalling molecule bins to receptor on plasma membrane (e,g, glucagon)
2. G protein activated which activates adenyl cyclase
3.adenyl cyclase converts ATP to cAMP
4. cAMP activates protein kinase A which hydrolyses ATP to ADP + Pi
5. Pi activates protein
6. glycogen converted to glucose

27
Q

How can cAMP alsao stimulate transcriprion?

A

Post translational level gene expression occurs and then cAMP stimulates transcription:
Protein kinase A phosphorylates CREB and then CREB enters the nucleus and acts as a transcription factor to regulate transcription

28
Q

What are homeotic genes?

A

Homeotic genes are in control of morphogensis of an organism

29
Q

What is morphogenesis?

A

Morphogenesis is anatomical development of san organism

30
Q

Describe homeobox genes

A

Hoemobox genes:

-180 bases long and code for homeodomain sequences (proteins)

31
Q

Describe homeodomain proteins

A

Homeodomain proteins:

  • coded for by homeobox sequences
  • bind to DNA and regulate transcription of adjacent genes genes (they act as transcription factors)
  • helix-turn-helix shape (H-T-H)
  • part of it recognises the TAAT sequence of the enhancer region of a gene to be transcribed
32
Q

Describe the subsets of homeotic genes

A

Homeotic genes

  • —homeobox genes—homeodomain protein sequences
  • ———-hox genes
33
Q

What do hox genes do?

A

Hox genes regulate the development of embryos along the anterior–posterior axis. They control what body parts grow where

34
Q

Discuss arrangement of hox genes

A

Arrangement of hox genes

  • arranged in clusters
  • Highly conserved (similar in all organisms) suggesting there is a common ancestor
  • display colinearity
35
Q

What is colinearity?

A

colinearity is the sequence and timing of the expression of each gene cluster, this corresponds with the sequential and temporal development of body parts

36
Q

What can hox genes code for?

A

Hox genes can encode for homeodomain proteins that act in the nucleus as transcription factors and switching on cascades of activation of genes

37
Q

How are hox genes regulated?

A

Regulation of hox genes:

  • materanlly supplied mRNA in egg cytoplasm
  • activates gap genes
  • regulates pair rule genes
  • regulates segment polarity genes
  • hox genes turned on
38
Q

What are too bodily processes hox genes regulate?

A

Hox genes regulate mitosis and apoptosis

39
Q

What does mitosis ensure?

A

Mitosis ensures each new daughter cell contains the full genome and is a clone of the parent cell

40
Q

What is the Hayflick constant?

A

Hayflick constant is 50. This is how many times normal body cells divide before dying

41
Q

What is apoptosis?

A

Apoptosis is programmed cell death

42
Q

Describe the process of apoptosis

A

Apoptosis:
1. cytoskeleton breakdown
2. cytoplasm becomes dense with tightly packed organelles
3. blebbing
chromatin condenses, nuclear envelope breaks down and DNA breaks into fragments
5. cell breaks into vesicles to be engulfed by phagocytes. This prevents the debris damaging cells and tissues

43
Q

What is blebbing?

A

Blebbing is where the cell loses its shape and protrusions form from the membrane

44
Q

When does apoptosis happen?

A

Apoptosis happens when genes regulating the cell cycle respond to stimuli like stress, hormones, nitric oxide

45
Q

Explain the effect of nitric oxide on apoptosis

A

Nitric oxide and apoptosis:

  1. NO induces apoptosis by making the inner mitochondrial membrane more permeable to H+ and dissipating the proton gradient.
  2. Proteins are released into cytoplasm where they bid to apoptosis inhibitors
  3. Apoptosis occurs
46
Q

How is apoptosis important in development?

A
  • Apoptosis is crucial in digit formation, it stops are fingers and toes from being webbed.
  • It removes ineffective or harmful T lymphocytes in immune system formation
  • It means we don’t need hydrolytic enzymes
47
Q

What happens when the balance of apoptosis and mitosis is disrupted?

A

Too much apoptosis = cell lose and degeneration

too little apoptosis = tumours

48
Q

What acid in humans regulates hox genes?

A

In humans retinoic acid regulates hox genes.

  • too much in pregnancy = fetal abnormalities
  • too much in adults is toxic