MCBG Flashcards
What is the function of cytoplasmic extensions?
Communication between cells.
Movement.
Increase surface area for more phagocytosis to occur.
What are the functions of lysosomes?
To bind to a vesicle and break the contents down, by releasing hydrolytic enzymes.
What is the denser portion of the Golgi, and what is its function?
The cis end.
It receives vesicles from the RER.
What are the two key properties of proteins?
Their size - number of amino acids joined together.
Their isoelectric point - the point at which the protein has no overall nett charge.
Outline some characteristics of alpha-helices.
They are tightly coiled chains with side chains.
It is a right-handed helix.
Hydrogen bonds stabilise between the amine and carbonyl groups.
Outline some characteristics of beta-pleated sheets.
They have extended confirmations.
They are composed of adjacent beta-pleated strands.
They are arranged in an anti-parallel direction for stability.
Hydrogen bonds stabilise them, formed between the amine group and the carbonyl group.
How does protein folding occur?
Through localised folding with the stable conformations maintained.
It is driven to find the most stable conformation.
What are amyloid fibres?
They are misfolded, insoluble beta-pleated sheet aggregations.
They are stabilised by hydrophobic interactions between amino acid residues.
They can cause disease.
What are clefts and crevices of enzymes?
Clefts are spaces between subunits.
Crevices are formed by specific folding of the protein to exclude water.
What can Km be used to determine?
Whether more substrate or enzyme is required to increase the rate of reaction.
What is V0?
The initial rate of reaction.
What is 1 unit?
The amount of enzyme that produces 1micromole of product per min under standard conditions.
What are the different types of bonds involved in DNA?
Phosphodiester bonds between phosphate group and sugar backbone - they are covalent bonds.
Hydrogens bonds are between bases.
Van-der waal forces also stabilise the DNA helix.
What is Crick’s central dogma?
Genes, encoded for by DNA are transcribed into mRNA. The mRNA is then translated into an amino acid sequence, which forms a protein.
What are the specific regions needed for sex determination?
Pseudoautosomal regions and genes, which are specific to X and Y chromosomes.
Which type of chromatin can be transcribed?
Eurchromatin, as the DNA is loosely compacted in the nucleosome form.
What are the types of purine and pyrimidine bases?
Purine = adenosine and guanine.
Pyrimidine = thymine, cytosine and uracil (replaces thymine in RNA).
What are the groups attached to the 5’ and 3’ ends?
5’ = phosphate group, which is negatively charged.
3’ = hydroxyl group.
What C number is the phosphate group attached to, and what C number binds to the adjacent nucleotide?
Phosphate = C5.
C3 binds to the adjacent nucleotide’s phosphate group.
Are G-C or A-T/U base pairs stronger?
G-C are stronger as they contain 3 hydrogen bonds, whereas A-T/U only contain 2 hydrogen bonds.
What is Down’s syndrome caused by, the abnormality and some clinical features?
It is caused by non-disjunction of chromosome 21 during meiosis.
It leads to trisomy of chromosome 21.
Patients often have delayed growth, mild intellectual disabilities, and characteristic facial features.
What are telomeres and what are their function?
They are repeat sequences at the end of the chromosome.
They protect the chromosome whilst replicating.
What happens to the length of telomeres as the cell proliferates?
They shorten.
What are the 7 groups of chromosomes based off, and what are X and Y chromosomes placed in?
They are based on size and position of the centromere.
X is in group C and Y is in group G.
What is G0?
A phase of the cell cycle where nothing is happening - a resting or quiescent phase.
This often occurs when there is genetic damage and so it is sent in G0 to repair or trigger apoptosis.
What types of cells does meiosis occur in?
Germline cells.
What are diploid and what are haploid cells?
Diploid cells have 2 copies of each chromosome - 46 chromosomes in the cell.
Haploid cells have 1 copy of each chromosome - 23 chromosomes in the cell.
What is the point at which the chromosomes cross over during prophase I called?
Chiasmata.
Explain how recombination occurs.
Homologous chromosomes pair up.
Crossing over at chiasmata of chromatids occurs.
The homologous chromosomes then separate with a different genetic complement.
Why does meiosis occur?
To maintain a constant number of chromosomes.
For genetic variation and diversity.
How long do spermatogenesis and oogenesis take, respectively?
Spermatogenesis = 60 days.
Oogenesis = 12-50 years.
What is ataxia tangliectasia?
It is an autosomal recessive, neurodegenerative disease, where damage to the cerebellum leads to difficulty moving and with co-ordination.
There is a mutation in the ATM gene.
They have a weakened immune system and an increased sensitivity to radiation.
The homology directed repair is disrupted, increasing the risk of cancer.
What is the process of DNA damage response?
Signals sent out by damaged DNA.
Sensors receive the signals.
Traduces activate effectors.
What are the different effectors for DNA damage response?
Stimulation of apoptosis of the cell.
DNA repair mechanisms for the cell.
Transcription to remove the mutation.
Cell enters senescence so cannot be replicated.
What are the 3 main cell cycle checkpoints?
G1/S - the cell is checked to ensure it has the correct conditions and proteins, and for DNA damage, before the DNA is replicated.
G2/M - the cell is checked to ensure the DNA was correctly replicated, before the cell divides.
Metaphase (spindle) checkpoint - checks to ensure the spindle fibres are correctly bound to the centromeres so that non-disjunction does not occur.
What requires base-excision repair, and how does it occur?
When cytosine is deaminated to uracil.
The base is removed by endonuclease, and then that section of backbone is removed.
DNA polymerase adds the correct base and DNA lipase stitches it together.
What requires nucleotide-excision repair, and how does it occur?
Dimerisation of thymine.
The dimmer and the surrounding nucleotides are removed by endonuclease.
DNA polymerase adds the correct nucleotides and DNA ligase stitches it back together.
What requires mismatch repair, and how does it occur?
This is where the incorrect base is incorporated into the sequence and is removed by endonuclease, with adjacent bases.
DNA polymerase incorporates the correct nucleotides into the sequence, and DNA ligase stitches it together again.
What is non-homologous end joining?
A double stranded DNA break occurs.
Exonucleases resect the excess base pairs around the break.
DNA ligase stitches the two strands back together.
The new DNA is not an exact copy.
What is homology-directed repair?
When there is a double-stranded DNA break, the other copy of the gene in the genome can be used.
Exonuclease resects the excess nucleotides each side of the break.
The unaffected copy is used as a template.
A heteroduplex is formed and one side of the DNA molecule is copied by DNA polymerase.
This strand is then duplicated to form the complementary strand and DNA ligase stitches them together.
What is lynch syndrome, and what is it caused by?
It is an autosomal dominant condition that increases the risk of colorectal cancer.
It is caused by mutation in mismatch repair genes.
What is a phenotype?
An observable characteristic due to interaction between the genotype and the environment.
What is a homozygous, heterozygous and hemizygous?
Homozygous = two alleles of the same gene.
Heterozygous = two different alleles of the same gene.
Hemizygous = only one allele of a gene.
What can autosomal recessive diseases do that autosomal dominant diseases cannot?
They can skip generations.
What mode of inheritance is fragile X syndrome, and who is affected more?
X-link dominant.
Females are affected more as they only require one of the mother or father to be affected to be affected themselves - they have 2 X alleles and so are twice as likely as males.
What is polygenic inheritance?
Where multiple genes are required to influence the phenotype.
If there is enough genes involved in the phenotype then it becomes continuous, such as skin pigmentation.
What is albinism’s mode of inheritance?
A polygenic trait, that is inherited in a recessive manner, controlled by the A gene.
They require one of the two alleles to be homozygous recessive.
What influences psychiatric disorders?
Multiple genes and the environment.
Where does linkage occur, and what does it increase the the chance of?
Linkage occurs on the same chromosome. On different chromosomes, they’re not linked. The closer genes are to each other, the increased likelihood that they will be linked.
It increases the chance that alleles are inherited together.
What is linkage disequilibrium?
Where loci on different chromosomes are inherited together.
What is penetrance?
The description of whether there is clinical expression of a phenotype in a person.
It is the percentage of people with a genotype that show symptoms.
What is expressivity, and what is it affected by?
The different clinical presentation between people with the same genotype - how severe it is.
It is affected by the environment.
What is diamond-blackfan anaemia?
A low red blood cell count due to decreased erythroid progenitor cell in the bone marrow.
This is because of mutations in ribosomal genes.
What are some symptoms of diamond-blackfan anaemia?
Cleft palate.
Upper limb abnormalities.
Cardiac defects.
Urogenital malformations.
What are the 3 different types of RNA?
mRNA - messenger RNA is the transition molecules between DNA and protein.
rRNA - ribosomal RNA is used for protein translation.
tRNA - transfer RNA reads the triplet code to synthesise a protein.
How many kinds and copies are there of each type of RNA?
rRNA - few different kinds with many copies of each. It is the most abundant RNA.
mRNA - hundreds of thousands of different kind with only a few copies. It is the least abundant.
tRNA - around 100 kinds with many copies of each. It is the second most abundant.
What permits the RNA polymerase to bind, and what can control the level of gene expression?
A promoter - a sequence of nucleotides.
Enhancers - upstream sequences.
What direction is DNA read and transcribed in by RNA polymerase?
It is read in a 3’ to 5’ direction.
It is synthesised in a 5’ to 3’ direction.
What do introns do?
They have regulatory roles, but do not code for proteins and so are spliced out.
How does polyadenylation occur?
RNA polymerase is cleaved off by specific endonuclease and polyA polymerase synthesises the A tail - a sequence of A nucleotides.
What does transcription depend on, and what occurs if this is altered?
It depends on the reading frame.
If this is altered, the incorrect mRNA sequence, thus polypeptide sequence will be synthesised.
What is translation carried out by?
Polysome - a string of ribosomes that bind to mRNA and translate it simultaneously.