Cellular control Flashcards

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1
Q

What is a mutagen?

A

A mutagen is a chemical physical, or biological agent which causes mutations.

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2
Q

Give an example of a physical, chemical and biological mutagen and what they do.

A

Physical mutagen- ionizing radiation (X-Ray)- break one or both DNA strands- some breaks can be repaired but mutations can occur in the process.

Chemical mutagen- deaminating agents- chemically alters bases in DNA such as converting cytosine to uracil in DNA, changing the base sequence.

Biological agents-
Alkylating agents- methyl or ethyl groups are attached to bases resulting in the incorrect pairing of bases during replication
Base analogs- incorporated into DNA in place of place of the usual base during replication, changing the base sequence.
Viruses- viral DNA may insert itself into a genome, changing the base sequence.

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3
Q

How do you read a frame of sequences of bases?

A

The triple code means that sequences of bases are transcribed (or read) consecutively in non-overlapping groups of three.
Each group corresponds to 1 amino acid.

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4
Q

What are some causes of mutation?

A
  • Mutations can occur spontaneously, often during DNA replication, but the rate of mutation is increased by mutagens.
  • The loss of a purine base (depurination) or depryrimidisation often occurs spontaneously.
  • The absence of a base can lead to the insertion of an incorrect base through complementary base pairing during DNA replication.
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5
Q

What are the effect of different mutations?

A

No effect- no effect onthe phenotype of an organism because normally functioning protein are still synthesised. Damaging- because proteins are no longer synthesised or protiens synthesised are non- functional (can interfere with essential processes) Beneficial- can result in a new and useful characteristic in the phenotype. E.g. Mutation in a protein present in the cell surface membranes of human cells means that HIV cannot bind and enter these cells. People with this mutation ae immune to infection form HIV.

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6
Q

Give an example of a physical, chemical and biological mutagen and what they do.

A

Physical mutagen- ionizing radiation (X-Ray)- break 1 or both DNA strands- some breaks can be repaired but mutations can occur in the process.

Chemical mutagen- deaminating agents- chemically alters bases in DNA such as converting cytosine to uracil in DNA, changing the base sequence.

Biological agents-
Alkylating agents- methyl or ethyl groups are attached to bases resulting in the incorrect pairing of bases during replication
Base analogs- incorporated into DNA in place of place of the usual base during replication, changing the base sequence.
Viruses- viral DNA may insert itself into a genome, changing the base sequence.

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7
Q

What are the effects of a silent mutation?

A

The vast majority of mutations are silent (neutral) meaning they don’t change any proteins, or the activity of any proteins synthesised. Therefore they have no effect on the phenotype of an organism.
They may also result in changes to the primary structure but do not chnage the overall structure or the function of the proteins synthesised.

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8
Q

What are some causes of mutation?

A

Mutations can occur spontaneously, often during DNA replication, but the rate of mutation is increased by mutagens. The loss of a purine base (depurination) or depryrimidisation often occurs spontaneously. The absence of a base can lead to the insertion of an incorrect base through complementary base pairing during DNA replication.

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9
Q

What are the effect of different mutations?

A

What are the effect of different mutations?
No effect- no effect onthe phenotype of an organism because normally functioning protein are still synthesised. Damaging- because proteins are no longer synthesised or protiens synthesised are non- functional (can interfere with essential processes) Beneficial- can result in a new and useful characteristic in the phenotype. E.g. Mutation in a protein present in the cell surface membranes of human cells means that HIV cannot bind and enter these cells. People with this mutation ae immune to infection form HIV.

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10
Q

What are the effects of a silent mutation?

A

The vast majority of mutations are silent (neutral) meaning they don’t change any proteins, or the activity of any proteins synthesised. Therefore they have no effect on the phenotype of an organism.
They may also result in changes to the primary structure but do not chnage the overall structure or the function of the proteins synthesised.

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11
Q

What impact can a change in amino acid have on the function of a biological molecule?

A

The position and involvement of the amino acid in R group interactions within the protein will determine the impact of the new amino acid on the function of the protien.
E.g.
If the protien is an enzyme and the amino acid plays an important role within the active site, then the protein may no longer act as a biological catalyst.

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12
Q

What impact does addition or deletion of nucleotides have on the reading frame? What is the exception for this rule?

A

It shifts the reading frame.
This will change every successive codon from the point of mutation.
Except when they’re added or deleted in multiples of 3 ad this is a full codon however the protein formed will still be affected as a new amino acid is added.

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13
Q

What is a mutagen?

A

A mutagen is a chemical physical, or biological agent which causes mutations.

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14
Q

What is a mutation and what effect does it have on protein synthesis?

A

A mutation is the change in the sequence in bases of DNA.

Protein synthesis can be disrupted if he mutation occurs within a gene.

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15
Q

What is a mutation caused by?

A

The change in sequence is caused by the substitution, deletion or insertion of one of more nucleotides (or base pairs) within a gene.

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16
Q

What is a point mutation?

A

If only one nucleotide is affected it is called a point mutation.

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17
Q

What is the benefit of the degenerate nature of the genetic code?

A

The degenerate nature of the genetic code means that after substitution of a nucleotide, the new codon may still code for the same amino acid leading to no change in the protien synthesis.

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18
Q

What is the effect of substitution of a nucleotide?

A

The substitution of a single nucleotide changes the codon in which it occurs.

If the new codon codes for a different amino acid this will lead to a change in the primary structure of the protein.

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19
Q

What type(s) of mutation lead to a frameshift mutation?

A

Insertion or deletion of a nucleotide.

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20
Q

Where in the DNA do silent mutations occur?

A

They can occur in the non- coding regions of DNA(introns) or code for the same amino acid due to the degenerate nature of the genetic code.

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21
Q

What is a conservative mutation?

A

A conservative mutation occurs when the amino acid change leads to an amino acid being coded for which has similar properties to the original, this means the effect of the mutation is less severe.

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22
Q

Give an example of a beneficial mutation?

A

The ability to digest lactose, is a beneficial mutation.

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23
Q

What effect does a missense mutation have?

A

Missense mutations result in the incorporation of an incorrect amino acid(s) into the primary structure when the protein is synthesised.

The result depends on the role of the amino acid plays in the structure and therefore function of the protein synthesised.

The mutation could be silent, beneficial, or harmful.

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24
Q

What is the effect of a nonsense mutation?

A

Nonsense mutations result in a codon becoming a stop codon instead of coding for an amino acid.
The result is a shortened protien being synthesised which is normally non- functional.
These mutations normally have negative or harmful effects on phenotypes.

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25
Q

Where in the DNA do silent mutations occur?

A

They can occur in the non- coding regions of DNA(introns) or code for the same amino acid due to the degenerate nature of the genetic code.

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26
Q

What are housekeeping genes?

A

These are genes that code for enzymes which are necessary for reactions present in metabolic pathways like respiration and are constantly required.

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27
Q

What are some changes in the chromosome structure?

A

Deletion- a section of chromosome breaks off and is lost within the cell.

Duplication- sections get duplicated on a chromosome.

Translocation- a section of one chromosome breaks off and joins another non-homologous chromosome.

Inversion- a section of chromosome breaks off, is reversed and then joins back onto the chromosome.

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28
Q

What categories can mutations be put in?

A

Amorph
Hypomorph
Hypermorph

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29
Q

What codes for protein- based hormones?

A

Tissue- specific genes

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30
Q

What effect does a missense mutation have?

A

Missense mutations result in the incorporation of an incorrect amino acid(s) into the primary structure when the protein is synthesised.

The result depends on the role of the amino acid plays in the structure and therefore function of the protein synthesised.

The mutation could be silent, beneficial, or harmful.

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31
Q

What is a conservative mutation?

A

A conservative mutation occurs when the amino acid change leads to an amino acid being coded for which has similar properties to the original, this means the effect of the mutation is less severe.

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32
Q

What is a hypermorph mutation?

A

A mutation that results in a gain in function of a protein.

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33
Q

What is a hypomorph mutation?

A

A mutation that results in a reduction of function of a protein.

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34
Q

What is a non conservative mutation?

A

A non conservative mutation is when the amino acid coded for has different properties to the original, this is more likely to have an effect on protein structure, and may cause disease.

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35
Q

What is an amorph mutation?

A

A mutation that results in the loss of function of a protein.

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36
Q

What is the difference between a gene ad chromosome mutation?

A

Gene mutations occur in single genes or sections of DNA whereas chromosome mutations affect the whole chromosome or number of chromosomes within a cell.

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37
Q

What is the effect of a nonsense mutation?

A

Nonsense mutations result in a codon becoming a stop codon instead of coding for an amino acid.
The result is a shortened protien being synthesised which is normally non- functional.
These mutations normally have negative or harmful effects on phenotypes.

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38
Q

What is the impact of gene mutation?

A

Because gene mutations normally occur during meiosis, they usually lead to developmental difficulties.

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39
Q

Why do protein- based hormones carry out short lived responses?

A

Protein- based hormones (required for the growth and development of an organism or enzyme) are only required by certain cells at certain time to carry out a short- lived response.

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40
Q

Why does the expression of genes and the rate of synthesis of protein products like enzymes and hormones have to be regulated?

A

The entire genome of an organism is present in every prokaryotic cell, or eukaryotic cell that contains a nucleus.

This includes genes not required by that cell so the expression of genes and the rate of synthesis of products like enzymes and hormones has to be regulated.

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41
Q

How is the expression and rate of synthesis of protein products regulated?

A

genes can be turned on or off, and the rate of product synthesis increased or decreased depending on demand.

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42
Q

What are histones modified to do?

A

DNA coils around histones because they are positively charged and DNA is negatively charged.

Histones can be modified to increase or decrease the degree of packing (or condensation).

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43
Q

What are the 3 genes in the lac operon and what are they involved in?

A

The lac operon is a group of 3 genes, lacZ, lacY and lacA, involved in the metabolism of lactose.

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44
Q

What are the different ways in which genes are regulated?

A

Transcriptional- genes can be turned on or off

Post- transcriptional- mRNA can be modified which regulates translation and the types of proteins produced

Translational- translation can be stopped or started

Post translational- Proteins can be modified after synthesis which changes their function

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45
Q

What are the series of reactions that after the binding of the repressor protein called?

A

This is called down regulation.

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46
Q

What does acetylation or phosphorylation lead to?

A

The addition of acetyl groups (acetylation) or phosphate groups (phosphorylation) reduce the positive charge on the histones (making them more negative) and this causes DNA to coil less tightly, allowing certain genes to be transcribed.

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47
Q

What enables bacteria to respond to changes in the environment?

A

Bacteria are able to respond to changes in the environment because of gene regulation.

48
Q

What is a benefit of gene regulation?

A

Expressing genes only when the products are needed also prevents vital resources being wasted.

49
Q

What is an operon?

A

A operon is a group of genes that are under the control of the same regulatory mechanism and are expressed at the same time.

50
Q

What is chromatin?

A

DNA is a very long molecule and has to be would around proteins called histones in eukaryotic cell, in order to be packed into the nucleus

51
Q

What is Epigenetics?

A

Epigenetics is a term that is increasing used to describe this control of gene expression by the modification of DNA. It is sometimes use to include all of the different ways in which gene expression is regulated.

52
Q

What is lacI, what does it code for and where is it located?

A

lacI is a regulatory gene, it’s located near to the operon and codes for a repressor protein that prevents the transcription of the structural genes in the absence of lactose.

53
Q

What is the benefit of protein- synthesis not occurring during cell division but instead during interphase between cell division?

A

This is a simple form of regulation that ensures the protein necessary for cell division are synthesised in time.

It also prevents the complex and energy- consuming process of protein synthesis form occurring when cells are actually dividing.

54
Q

What is the difference between heterochromatin and euchromatin?

A

Heterochromatin is tightly wound DNA causing chromosomes to e visible during cell division whereas euchromatin is loosely wound DNA present during interphase.

55
Q

What is the difference in gene regulation between eukaryotes and prokaryotes?

A

Gene regulation is fundamentally the same in both prokaryotes and eukaryotes.
However, the stimuli that cause changes in gene expression and the responses produced are more complex in eukaryotes.

56
Q

What is the effect of methylation?

A

The addition of methyl groups (methylation) makes the histones more hydrophobic so they bind more tightly to each other causing DNA to coil more tightly and preventing transcription of genes.

57
Q

Why are opens more common in prokaryotes than eukaryotes?

A

Operons are far more common in prokaryotes than eukaryotes owing to the smaller and simpler structures of their genomes.

58
Q

Why are operons a very efficient way of saving resources?

A

Because of certain gene products are not needed, then all of the genes involved in their production can be switched off.

59
Q

Why is gene regulation required?

A

Multicellular organisms not only have to respond to changes in the external environment but also the internal environment.

Gene regulation is required for cells to specialise and work in a coordinated way.

60
Q

Why is transcription DNA not possible for heterochromatin and not euchromatin?

A

The transcription of genes is not possible when DNA is tightly wound because RNA polymerase cannot access the genes.
The genes in euchromatin, however, can be freely transcribed.

61
Q

Glucose vs lactose

Which is easier to metabolise, which is the preferred respiratory substrate for E.coli+ other bacteria?

A

Glucose is easier to metabolise and is the preferred respiratory substrate of E.coli and many other bacteria.
If glucose is in short supply, lactose can be used as a respiratory substrate.
Different enzymes are needed to metabolise lactose.

62
Q

How does splicing occur?

A

Splicing occurs where the RNA is cut at specific points- the introns (non-coding DNA) are removed and the exons (coding DNA) are joined together.

63
Q

How does the binding of the repressor protein to the operator prevents the transcription of RNA polymerase?

-draw a diagram

A

insert pic page 511 KERBOODLE

64
Q

How does the presence of lactose induce transcription of the structural genes?

A

The presence of lactose induces transcription of the structural genes which allow the production of B-galactosidase and lactose permease.
Lactose acts as an inducer by binding to the repressor protein, causing it to change shape.
This prevents the repressor protein binding to the operator region.
Therefore, RNA polymerase is able to bind to the promoter and transcription of the structural genes can occur.

insert pic page 511 KERBOODLE bottom

65
Q

How is the transcription of the lac genes always repressed (genes switched off) in the absence of lactose?

A

this occurs because the regulator gene lacI is always switched on, resulting in the production of the repressor protein.

66
Q

What does the gene lacY code and its role?

A

the gene lacY codes for the membrane carrier protein lactose permease which helps transport lactose into the bacterial cell

67
Q

What is meant by homogenous?

A

catalyst is in the same state

68
Q

What is the benefit of modifying pre-mRNA?

A

A cap is added to the 5’ and a tail to the 3’ of the pre-mRNA.
These both help to stabilise mRNA and delay degration in the cytoplasm.
The cap also aids binding of mRNA to ribosomes.

69
Q

What is the impact of the binding of the repressor protein?

A

The binding of this protein prevents RNA polymerase binding to DNA and beginning transcription

70
Q

What is the issue that occurs even when the binding of RNA polymerase results in transcription?

A

the binding of RNA polymerase still only results in a relatively slow rate of transcription that needs to be increased or up- regulated to produce the required quantity of enzymes to metabolise lactose efficiently.

71
Q

What is the operator region?

A

the operator region is the section of DNA that the repressor protein binds to in order to prevent transcription.

72
Q

what is the product of transcription and what is it modified into?

A

The product of transcription is a precursor molecule, pre-mRNA.
This is modified forming mature mRNA before it can bind to a ribosome and code for the synthesis of the required protein.

73
Q

What is the role of the enzyme that lacZ codes for?

A

The gene lacZ codes for the enzyme β-galactosidase which catalyses the hydrolysis of the disaccharide lactose into glucose and galactose

74
Q

What is the role of the lacI gene?

A

it’s a regulatory gene that codes for a protein that prevents transcription of the structural genes- it is a repressor protein

75
Q

what is the role of the promoter region?

A

the promoter region is the section of DNA where RNA polymerase binds to in order to begin transcription

76
Q

What is the section of DNA that is the binding site for RNA polymerase called?

A

the promoter

77
Q

What is the series of reactions that occur when lactose is present?

A

When lactose is present, it binds to the repressor protein causing it to change shape so it can no longer bind to the operator. As a result RNA polymerase can bind to the promoter, the 3 structural genes are transcribed, and the enzymes are synthesised.

78
Q

What type of genes are on the lac operon, what do the code for and what are they transcribed onto?

A

They are structural genes as they code for 3 enzymes (B-galactosidase, lactose permease and transacetylase) and they are transcribed onto a single long molecule of mRNA.

79
Q

Where do the processes of splicing an the modification of pre-mRNA occur?

A

Both the modification of pre-mRNA and splicing occurs within the nucleus.

80
Q

Where does the repressor protein bind to?

A

The repressor protein is constantly produced and binds to an area called the operator, which is also close to the structural genes

81
Q

Define morphogenesis

A

the regulation of the pattern of anatomical development is called morphogenesis

82
Q

How are protein kinases activated?

A

Protein kinases are themselves often activated by the secondary messenger cAMP.

83
Q

How are protein kinases important regulators of cell activity?

A

Many enzymes are activated by phosphorylation.

Protein kinases are therefore important regulators of cell activity.

84
Q

How do you increase the range of proteins that can be produced from a single mRNA molecule or gene?

A

The nucleotide sequence of some mRNA molecules can also be changed through base addition, deletion, or substitution.
These have the same effect as point mutations and result in the synthesis of different proteins which have different functions.

85
Q

Name 3 mechanisms that regulate the process of protein synthesis:

A

1) degradation of mRNA- the more resistant the molecule the longer it will last in the cytoplasm, that is, a greater quantity of protein synthesised.
2) binding of inhibitory proteins to mRNA prevents it binding to ribosomes and the synthesis of proteins.
3) activation of initiation factors which aid the binding of mRNA to ribosomes (the eggs of many organisms produce large quantities of mRNA which is not required until after fertilisation, at which point initiation factors are activated).

86
Q

What are homeobox genes?

A

homeobox genes are a group of genes which all contain a homeobox

87
Q

What are protein kinases?

A

Protein kinases are enzymes that catalyse the addition of phosphate groups to proteins.

88
Q

What are some forms of post- translational control?

name 4

A
  • addition of non-protein groups such as carbohydrate chains, lipids, or phosphates
  • modifying amino acids and the formation of bonds such as disulphide bridges
  • folding or shortening of proteins
  • modification by cAMP- for example, in the lac operon cAMP binds to the cAMP receptor protein increasing the rate of transcription of the structural genes.
89
Q

What does post-translational control involve (what is it)?

A

Post- translational control involves modifications to the proteins that have been synthesised.

90
Q

What is the effect of protein kinases?

A

The addition of a phosphate group changes the tertiary structure and so the function of a protein.

91
Q

why are fruit flies belonging yo the genus Drosophila a popular choice fro use in genetic studies?

A

they are small, easy to keep and have a short life cycle.

92
Q

what are homeobox genes?

A
  • homeobox genes are a group of genes which all contain a homeobox
  • homeobox genes are regulatpry genes
93
Q

what is a homeobox?

A

-the homeobox is a section of DNA 180 base pairs long coding for a part of the protein 60 amino acids long that is highly conserved (very similar) in plants, animals, and fungi.

94
Q

what does the homeodomain do?

A

it’s a part of the proteins which binds to DNA and switches other genes on or off

95
Q

what is a homeobox gene and what does it cause in:

  • humans
  • mice and fruit flies?
A
  • Pax6 i some of the homeobox genes.
  • when mutated it causes a for of blindness (due to underdeveloped of the retina) in humans.
  • Mice and fruit flies also have this gene and disruption of the gene causes blindness in these organisms as well.
  • These findings suggest that PAx6 is a gene involved in the development of eyes in all 3 species.
96
Q

what are Hox genes and what are they responsible for?

A

Hox genes (often used interchangeably with homeobox genes) are one group of homeobox genes that are only present in animals.

-They are responsible for the correct positioning of body parts.

97
Q

where are the Hox genes found in animals?

A

In animals the Hox genes are found in gene clusters- mammals have four clusters on different chromosomes.

98
Q

How are body plans usually represneted?

A

body plans are usually represented as cross- sections through the organism showing the fundamental arrangement of tissue layers.

99
Q

what is the difference between diploblastic animals and triploblastic animals?

A

diploblastic animals have 2 primary tissue layers and triploblastic animals have 3 primary tissue layers

100
Q

what is a common feature of the layout of living organisms?

A
  • a common feature of animals is that they are segmented, that is, the rings of a worm or the less obvious back bone or vertebrates.
  • These perform different functions.
101
Q

what do Hox genes in the head control and what do Hox genes in the thorax control?

A

Hox genes in the head control the development of mouthparts

Hox genes in the thorax control the development of wings, limbs or ribs

102
Q

what are somites and what do they do?

A
  • the individual vertebrae and associated structures have all developed from segments in the embryo called somites.
  • the somites are directed by Hox genes to develop in a particular way depending on their position in the sequence.
103
Q

what is the body layout in both flies and human beings controlled by?

A

Hox genes

104
Q

how many sets of Hox genes do flies and human beings have?

A

the fly has a set of 8 Hox genes but human beings have 4 comparable sets

105
Q

where is radical symmetry seen and what does it mean?

A
  • radical symmetry is seen in diploblastic animals like jellyfish
  • they have no left or right sides, only a top and a bottom
106
Q

where is bilateral symmetry seen and what does it mean?

A

-bilateral symmetry which is seen in most animals which organisms have both left and right sides and a head and tail rather than just a top and bottom

107
Q

where is asymmetry seen and what does it mean?

A

-asymmetry is seen in sponges which have no lines of symmetry

108
Q

what does cell division result in?

A

mitosis results in cell division and proliferation, and apoptosis, which is programmed cell death, are both essential in shaping organisms

109
Q

what is the role of mitosis?

A

the role of mitosis is to increase the number of cells leading growth.

110
Q

what is the role of apoptosis?

A
  • one of the ways in apoptosis shapes different body parts is:
  • by removing unwanted cells and tissues
  • cells undergoing apoptosis can also release chemical signals which stimulate mitosis and cell proliferation leading to the remodelling of tissues
  • a sculptor working with clay will often add and remove clay during the reshaping process
111
Q

how is mitosis and apoptosis regulated?

A

Hox genes regulate both mitosis and apoptosis

112
Q

draw and label a diagram showing the process of apoptosis

A

insert pic page 516 KERBOODLE

113
Q

what are some factors affecting the expression of regulatory genes?

A

-by the environment, both internal and external.
-EXTERNAL= stress, a change in temp and intensity of light
+drugs
-INTERNAL= release of hormones or psychological stress

114
Q

define stress and what can cause it?

A

stress can be defined as the condition produced when the homeostatic balance within an organism is upset.

-this can be due to external factors such as a change in temperature or intensity of light

115
Q

what are some internal factors that can affect the expression of regulatory genes?

A

internal factors can change sue to the release of hormones or psychological stress

116
Q

how do factors affecting the expression of regulatory genes impact an organism?

A

these factors will have a greater impact during the growth and development of an organism

117
Q

give an example of how drugs can affect the activity of regulatory genes

A
  • an example of this was the drug thalidomide.
  • Thalidomide was given to pregnant women in the 1950s and 1960s to treat morning sickness.
  • It was later discovered that it prevented the normal expression of a particular Hox gene
  • This resulted in the birth of babies with shortened limbs.
  • thalidomide is currently used in the treatment of some forms of cancer.
  • The property of this drug that has previously caused problems during pregnancy is being exploited to stop the development of some tumours.
  • It’s believed that thalidomide prevents the formation of networks of capillaries which are necessary for some tumours to grow and develop.