Cellular control Flashcards
Define gene
A length of DNA that codes for one or more polypeptides
Define polypeptide
A polymer consisting of a chain of amino acid residues joined via peptide bonds
Define genome
The genome of an organism is the entire DNA sequence of that organism
Define protein
A large polypeptide that consists of 100 amino acids or more. They can consist of 1 or more polypeptide chains
Define transcription
The creation of a single stranded mRNA which is a copy of the DNA coding strand
Are genes hereditary?
Yes
Are there any genes in mitochondria?
Yes
Where are genes situated?
On linear chromosomes within the nucleus on a specific locus
What do chromosomes consist of?
What is the DNA in a chromosome associated with?
Chromosomes consist of one molecule of DNA
The DNA is associated with histone proteins
List 5 out of 10 polypeptides that genes code for
- Collagen/keratin (structural proteins)
- Haemoglobin
- Immunoglobulins
- Cell surface receptors
- Antigens
- Actin/myosin in muscle cells
- Tubulin proteins in the cytoskeleton
- Channel proteins
- Electron carriers
- Enzymes
How are genes involved with the synthesis of all non-protein molecules?
Because they code for enzymes which are involved in the control of metabolic pathways that synthesise non-protein molecules.
List 4 characteristics of a genetic code
- They are triplet codes and consist of three bases that code for an amino acid. There are only 20 amino acids but 64 possible triplet codes.
- Genetic codes are degenerate meaning that all amino acids (except methionine) have more than 1 code
- Some codes are stop codons and indicate the end of the polypeptide chain
- Genetic codes are widespread but no universal. For example the code TCT codes for serine in any organism which is useful for genetic engineering as you can transfer genes between organisms. There are some variations
Where are chromosomes found?
In the nucleus
Where are proteins assembled?
How does the genetic code get from the nucleus to the ribosome?
At ribosomes
A copy of the code is made in the form of mRNA which can pass through the nuclear pores in the nuclear envelope.
Define genetic code
The sequence of nucleotides that forms a gene
Define locus
A specific place on a DNA molecule
What is the first stage of protein synthesis?
Where does it occur?
Transcription
In the nucleus
What is made from transcription?
What strand is used as a template?
mRNA
The template strand of DNA
Where are the free DNA and RNA nucleotides found for transcription?
DNA: Nucleoplasm
RNA: Nucleolus
At the start of transcription, nucleotides are activated, how do you activate a nucleotide?
By attaching 2 extra phosphoryll groups
What are the 4 RNA nucleotides that are activated for transcription?
A, U, G and C
also known as ATP, UTP, GTP and CTP
Describe the 5 stages of transcription in detail.
- The length of DNA unwinds and unzips and the hydrogen bonds between complementary bases break. The length of DNA dips into the nucleolus
- Free activated RNA nucleotides bind via hydrogen bonds to the exposed complementary bases on the template strand. U and A (A and T on the DNA strand) and C and G. RNA polymerase catalyses this
- This releases the phosphoryll groups which releases energy. This energy is used to bind adjacent nucleotides
- This creates mRNA which is complementary to the template strand and is an exact copy of the coding strand
- The mRNA is released from the DNA and passes out of the nucleus via nuclear pores in the envelope
Define translation
The assembly of polypeptides at ribosomes
What is the second stage of protein synthesis?
Translation
Amino acids are assembled at ribosomes to form polypeptides, what determines the sequence of amino acids?
The codons which are triplets of nucleotide bases on the mRNA
What is a chain of amino acids called?
A polypeptide
Where are ribosomes found? 2 places
In the cytoplasm
Bound to the RER
Where are ribosomes assembled?
What are they assembled from?
In the nucleolus of eukaryote cells
They are assembled from rRNA and protein
What does mRNA stand for?
What about rRNA?
And tRNA?
Messenger RNA
Ribosomal RNA
Transfer RNA
Describe the appearance of ribosomes and how that enables their function
They consist of 2 subunits with a groove inbetween them
The groove enables the mRNA to fit into it and slide long the groove. The ribosome can then read the code and assemble the amino acids in the correct order
Name 4 reasons why the sequence of amino acids in a protein is essential
- It forms the primary structure of the protein
- The primary structure determines the tertiary structure which is the 3D shape held by ionic and hydrogen bonds between the R groups of amino acids
- The tertiary structure is essential for its function. For example to create the complementary shape for enzymes
- If the tertiary structure is altered then the protein will no longer function. For example the active site will no longer be complementary or channel proteins won’t be the right shape to fit ions through it.
True or false
A tRNA molecule isn’t specific for one amino acid
False, it is specific for ONE amino acid
Where do amino acids attach to tRNA?
In the cytoplasm
Where is tRNA found and where is it assembled?
It’s found in the cytoplasm and assembled in the nucleus.
Describe the appearance of tRNA molecules
They are lengths of RNA folded into a hairpin shape. There are 3 exposed bases at one end which is where the specific complementary amino acid binds. On the other end there are three unpaired nucleotide bases which are called an anticodon.
What is the function of an anticodon on a tRNA molecule?
To temporarily bind with the codon on the mRNA strand so that the amino acids can bind together to form a polypeptide.
Describe the 5 stages of translation in detail
- mRNA binds to a ribosome and 2 codons attach to the small subunit of the ribosome. Methionine is always the first amino acid attached to a tRNA molecule, the tRNA molecule has the anticodon UAC and the tRNA molecule binds via hydrogen bonds to the complementary codon: AUG.
- A second tRNA with a different amino acid binds to the second codon attached to the small subunit
- A peptide bond forms between the 2 adjacent amino acids, an enzyme catalyses this
- The ribosome begins to slide along the mRNA and more and more amino acids bind to each other via peptide bonds. After then amino acids bind together, the tRNA molecule leaves and collects another amino acid.
- The polypeptide chain grows until it reaches a stop codon which doesn’t have a corresponding tRNA molecule.
How many stop codons are there?
What are they?
What is the start codon?
3
UAA, UAG, UGA
ATG/ AUG
Once a polypeptide has been made, some need to be activated. What activates these proteins?
How does it activate them?
A chemical called cAMP, a nucleotide derivative
It does this by changing their 3D shape so that they are a better fit to their complementary molecules
How is protein synthesis different in prokaryotes?
It’s different because DNA isn’t found in the nucleus of the cell meaning that translation starts as soon as mRNA is made.
Define mutation
A random change in the amount of/arrangement of genetic material in a cell
Define chromosome mutations
Random changes to the structure of a chromosome
Define DNA mutations
Changes to genes due to changes in nucleotide base sequences
Give 3 examples of DNA mutation
And 4 examples of chromosome mutation (explain each one)
Base deletion, addition or substitution
Deletion (a part of the chromosome is lost), inversion (a section of the chromosome turns 180 degrees), non-disjunction (chromosomes/chromatids fail to separate during meiosis resulting in polyploidy) or translocation (a piece of one chromosome becomes attached to another)
Give 2 examples of causes of mutations
DNA replication before nuclear division and mutagens (tar, x rays etc)
Why is it unlikely for DNA mutation to occur?
Because the structure of DNA molecules makes them stable which reduces the chances of things corrupting the encoded genetic information
Define somatic mutations
Mutations associated with mitosis that aren’t passed on to offspring but can lead to cancer
Are mutations associated with meiosis and gamete formation hereditary?
Yes, they can be inherited
What are the two main classes of DNA mutation? Explain them
What diseases do they cause?
Point mutation/substitutions, this is when one base pair replaces with another. It can sometimes change the primary structure. Sickle-cell anaemia, tumours
Insertion/deletion mutations, this is when one or more nucleotides are inserted or deleted from a length of DNA, it causes a frameshift meaning all the amino acids change.
Huntington’s disease (but it isn’t a frameshift) and cystic fibrosis
Once triplets of nucleotide bases have been transcribed, what do they become?
Codons
Which mutations have a greater effect on the resulting protein: point mutations or insertion/deletion mutations?
Insertion/deletion mutations because they change all of the amino acids after the mutation
Name 3 types of point mutations. Also describe the effect they have on the protein.
Missense mutation: One nucleotide base changes meaning only 1 amino acid changes
Nonsense mutation: One nucleotide base changes which changes the codon to a stop codon, prematurely ending the polypeptide
Silent mutation: One nucleotide base changes but it still codes for the same amino acid.
All of the above alter the helix tertiary structure.
Why do degenerate codons reduce the chance of DNA mutation?
Because it increases the likelihood of a silent mutation which has no effect on the protein
Give 2 examples of diseases caused by DNA mutations
Sickle-cell anaemia and cystic fibrosis
How is cystic fibrosis caused?
It is caused by a deletion mutation. A triplet of base pairs is deleted which completely deletes an amino acid
How is sickle-cell anaemia caused?
It is caused by a point mutation on codon 6 for beta-polypeptide chains of haemoglobin, this means that valine replaces glutamic acid (amino acids)
Describe how a mutation can lead to a tumour
Protooncogenes (growth promoting genes) can be changed via a point mutation to oncogenes which alters the ability of that gene to be switched off. This means the gene is permanently switched on so unregulated cell division occurs (that is the function of oncogenes)
How is Huntington’s disease cause?
Name 2 symptoms
Via a stutter mutation, this means that a triple nucleotide repeat is expanded over the threshold number, altering the protein sufficiently. In a Huntington gene, the triple nucleotide repeat has repeat CAG sequences.
Loss of motor control and dementia
Define allele
An alternative version of the same gene. It’s still at the same locus and codes for the same polypeptide but the polypeptide structure may be different
Give two causes for a mutation producing no change.
- A silent mutation
2. A mutation in a non-coding region of the DNA
What is a neutral mutation?
A mutation that has no advantage or disadvantage but still changes the structure of the protein.
Give 2 examples of a neutral mutation
- Being able/not able to smell honeysuckle. It has no advantage or disadvantage
- Being able to roll your tongue. This is hereditary and is a dominant allele.
Give an example of a beneficial mutation
Being able to taste PCT because in large quantities, it’s poisoness
Give an example of 1 beneficial AND harmful mutation (depending on the conditions you are in)
Harmful: People who live in Africa having a mutation for paler skin, causing them to burn and get skin cancer
Beneficial: Melanin (more melanin is present in darker skins) protects the skin from ultraviolet light but that means less vitamin D is synthesised from the sun. When humans migrated to cooler climates, having the mutation for paler skin was advantageous as they could synthesise sufficient vitamin D whereas darker skin people couldn’t as the sunlight wasn’t intense enough.
Why is it bad to have a lack of vitamin D?
It can cause rickets, a narrow pelvis (causing difficulties in childbirth) and an increased risk of cancer and heart disease because vitamin D helps protect us from them
Why wouldn’t there be evolution without genetic mutations?
Because genetic mutations can provide people with a greater advantage in a certain environment, for example a lack of melanin in a cooler climate. This leads to natural selection because the people with the mutation will out compete those without it.
Define operon
A length of DNA made up of structural genes and control sites. The structural genes code for proteins and the control sites consist of the promoter and operator region.
Define operator and promoter region
They are in the control sites on an operon, they are genes that don’t code for polypeptides.
Define repressor protein
A protein that can bind to the operator region, preventing the transcription of the Z and Y genes
Define enzyme induction
When bacteria vary the synthesis rates of specific enzymes in response to environmental changes like a type of food being available.
Name a bacteria that can perform enzyme enduction.
True or false
There is a great variation in the numbers of different polypeptides.
Escherichia coli
True
Define inducible enzymes
Enzymes that aren’t synthesised at a constant rate, they are synthesised at varying rates depending on the ell’s circumstances
What enzymes are synthesised at a fairly constant rate?
Enzymes involved in basic cellular functions
Give an example of when E. coli might synthesise a inducible enzyme
When lactose is present it can be respired instead if glucose. The presence of lactose can activate the synthesis of enzymes involved in the respiration of lactose.
What type of sugar is lactose
A disaccharide sugar
What happens when E. coli (after being grown without the presence of lactose) is placed in a medium with lactose?
5 things
At first, the lactose isn’t metabolised as there are only small amounts of the enzymes needed to respire it.
The enzymes are beta-galactosidase and lactose permease
Beta-galactosidase catalyses the hydrolysis of lactose to glucose and galactose. Lactose permease transports lactose into the cell
After a few minutes of being in the medium, E. coli rapidly increases its synthesis of the two enzymes.
Lactose is the inducer because it triggers the production of the 2 enzymes
What type of organism is the lac operon found in?
The section of DNA known as the lac operon is found in a bacterial organism
What are the 3 sections of the lac operon and what is their function?
What gene is involved with the lac operon but isn’t a part of it?
Structural genes: There are 2 structural genes, gene Z and gene Y. Z codes for the enzyme beta-galactosidase and Y codes for lactose permease. The genes, when turned on, are transcribed Operator region (O): It's a length of DNA found next to the structural genes and it can turn the genes on and off. Promoter region (P): A length of DNA that RNA polymerase can bind to to begin the transcription of Z and Y. The regulatory gene
How does the lac operon work when lactose is absent from the growth medium? 4 stages
- The regulator gene is expressed (aka transcribed and translated) which synthesises a repressor protein. A repressor protein has 2 binding sites one that binds to the operator region and one that binds to lactose.
- The repressor protein binds to the operator region which covers part of the promoter region. This means RNA polymerase can’t bind to the promoter region where it normally attaches
- Because it can’t bind to the promoter region, it means that the Z and Y genes can’t be transcribed into mRNA
- This means the genes won’t be translated and no beta-glacatosidase or lactose permease will be synthesised
How does the lac operon work when lactose is present in the growth medium? 4 stages
- Lactose molecules aka the inducers bind to the other repressor protein’s binding site. This changes the shape of the repressor protein so its other binding site is no longer complementary to that of the operator region’s binding site. The repressor protein therefore dissociates from the operator region
- The promoter region is now unblocked so RNA polymerase binds to it, initiating the transcription of the Z and Y genes.
- The operator repressor inducer system together act as a molecular switch allowing the Z and Y genes to be expressed as beta galactosidase and lactose permease
- E. coli can then use these enzymes to create a respiratory substrate (glucose) and respire it thus gaining energy from lactose.
Define homeobox genes
Genes that control the development of the body plan of an organism. E.g. the polarity or positioning of organs
Define body plan
The general structure or layout of an organism
What happens if homeobox genes get mutated?
Name a chemical that can mutate them.
Then changes will our in the body plan
Thalidomide
Define maternal effect genes
Genes that control the embryo’s polarity
Define segmentation genes
Genes that control the polarity of each segment of an embryo
Define homeotic selector genes
Genes that determine the identity of each segment and they direct the development of them. They are master genes found in the control networks of regulatory genes
What organism is a drosophila melanogaster?
A fruit fly
What happens as soon as a drosophila melanogaster lays its eggs?
A series of mitotic divisions are triggered every 6-10 minutes, this rate of DNA replication is one of the fastest known for eukaryotic organisms
What are the 7 stages of drosophila development. Name them in order.
- A multinucleate syncytium is formed but nonew cell membranes are formed.
- After the 8th division, the nuclei migrate to the outer part and by the 11th division, the nuclei have formed an outer layer around the yolk filled core.
- The division rate then slows and nuclear genes switch from replicating to transcribing
- The plasma membrane invaginates around the nuclei, forming a single outer layer
- After 2-3 hours, the embryo then divides into segments which correspond to the body plan
- 3 segments then merge to form the head. There are 3 thoracic segments and 8 abdominal segments
- The egg hatches and the larvae (after a period of time) undergo metamorphosis, this is where legs, wings and antennae develop.
What are the 2 gene families in terms of development?
Genes that regulate the development of the abdomen and thorax
Genes that regulate the development of the head and thorax
What is antennapedia?
How is it caused?
It is when a fruit flies antennae looks more like legs
It’s caused by a mutation of a gene that changes one body part to another
What organisms are homeobox genes found in?
Organisms that are segmented
How many base pairs makes up a homeobox gene?
How many amino acids are found in the polypeptide that the homeobox gene synthesises?
180
60
What type of polypeptide CAN homeobox genes make?
What is the function of this polypeptide?
Transcription factors
Their function is to bind to genes further upstream on the DNA molecule and initiate transcription. This allows the expression of other genes
True or false
Homeobox genes are only found in animals
False, they are found in plants aswell
What is a cluster of homeobox genes called?
A Hox cluster
How many Hox clusters do nematodes aka round worms have?
What about drosophila
What about vertebrates?
How many genes are found in each hox cluster in vertebrates?
1
2
4
9-11 genes
What order are homeobox genes activated in?
They are activated in the same order as they are expressed, from head to tail.
What is retanoic acid a derivative of?
What is its function?
Vitamin A
It activates the homeobox genes in the order that they are expressed. Just like the axial skeleton and the CNS which are also expressed from head to tail
Define morphogen
Give an example of one
A substance that governs the pattern of tissue development
Retanoic acid
How can cranial deformities be caused?
When there is too much presence of vitamin A during the development of an embryo, this means that there is too much retanoic acid which can interfere with the normal expression of genes
Define apoptosis
Programmed cell death that occurs in multicellular organisms
Define necrosis
Cell death caused by damage or physical trauma
What is the Hayflick constant
The Hayflick constant is when cells undergo about 50 mitotic divisions and once the ave done this, they undergo biochemical events which results in an orderly and tidy cell death aka apoptosis
Name 2 differences between necrosis and apoptosis
- Necrosis releases hydrolytic enzymes which results in puss as leukocytes die
- Necrosis is untidy and damaging to other cells
Define phagocytosis
The endocytosis of large solid molecules into a cell
What are the 5 stages of apoptosis?
How quickly does apoptosis occur?
- Enzymes break down the cell’s cytoskeleton
- The cytoplasm becomes dense and the organelles are tightly packed
- The cell surface membrane changes and blebs form
- Chromatin condenses and the nuclear envelop breaks. DNA also breaks into fragments
- The cell then breaks into vesicles which are then taken up by phagocytes via phagocytosis so the components can be reused. The cellular debris are disposed of and no other cells or tissues are damaged
This process occurs VERY quickly.
How is the process of apoptosis controlled?
Describe in detail
It’s controlled by cell signals from inside or outside the cell.
Cytokines, made by cells from the immune system, hormones, growth factors and nitric oxide are cell signals.
Nitric oxide can induce (help) apoptosis because it makes the inner mitochondrial membrane more permeable to hydrogen ions. This dissipates the proton gradient.
Nitric oxide also causes proteins to be released into the cytosol (the aqueous part of the cytoplasm), the proteins then bind to apoptosis inhibitor proteins, allowing the process to take place.
What is the purpose of apoptosis inhibitor proteins?
What proteins bind to them to allow apoptosis to occur?
To ensure that the cell doesn’t undergo apoptosis prematurely
Signal proteins bind to them
Why is apoptosis tightly regulated during development?
And do different tissues use different signals to induce it?
What type of cell does undergo apoptosis during development?
To ensure that not too many/too little enzymes are destroyed which could have negative effects
Yes.
Ineffective or harmful T lymphocytes during the development of the immune system
Why is apoptosis essential for limbs during development?
Because it causes the digits aka finger and toes to separate from each other. Otherwise you can get syndactyly toes/fingers (ones that are joined together)
In children, between the ages of 8 and 14, how many cells each day undergo apoptisis?
How many cells undergo apoptosis each day in adults?
Why is it less in adults?
What should the rate of apoptosis be equal to?
20-30 billion cells
50-70 million cells
Because there is less mitotic divisions as the organism is no longer growing and developing
The rate of apoptosis should equal the rate of cells produced via mitosis
What happens when the rates of apoptosis and the rates of cell production aren’t balanced?
What process plays a crucial role in ensuring the two rates are balanced?
If the rate of apoptosis is higher than the rate of cell production then it will lead to cell loss or degeneration
If the rate of cell production is higher than the rate of apoptosis then it can lead to the formation of tumours
Cell signalling plays a crucial role
Define meiosis
A reduction division where the resulting daughter cells have half the original number of chromosomes as they are haploid cells. These cells are used in sexual reproduction
Define zygote
When two gametes fuse