Molecular Bio Flashcards
how many distinct / unique chromosomes do humans have?
24 (22 autosomes and 2 different sex chromosomes)
in total we have 46 chromosomes
what is intergenic DNA?
This is regions of DNA that are non-coding. Therefore they do not create proteins
What are single-nucleotide polymorphism’s?
SNP’s (snips) are a form of genetic variation. In our sequence of DNA humans have random mutations that create genetic variability. these are called SNP’s
the genetic code: explain codons and anti-codons.
the 3 letter sequence on mRNA is “read” and gives rise to a specific amino acid. Therefore, since the mRNA letters code for an amino acid it is called the codon.
The anti-codon has that specific amino acid attached to it and it is on tRNA.
what are the start and stop codons (note: stop codons are aka nonsense codons)
start = AUG which codes for methionine (M)
nonsense = UAG, UAA, and UGA
why is the genetic code said to be degenerate and non- ambiguous?
degenerate –> it is error resistant. Since most of the time, if a codon starts with the same 2 letters the third letter doesn’t change the amino acid. (multiple codons make the same AA)
not ambiguous –> for each codon only one specific AA is made
DNA replication
What enzyme forms the open complex in eukaryotes and prokaryotes?
eukaryotes - DNA helicase
prokaryotes - DnaB
what is DnaA?
a protein that find the ORI (origin of replication) in prokaryotes. It attracts DnaB for the formation of the open complex
what is topoisomerase and SSBP’s?
topoisomerase stabilizes the open complex by reducing the super coil created up and down stream of it.
SSBP’s are single stranded binding proteins which protect ssDNA
true or false, DNA polymerase requires a template and a primer to function.
true, primases must place a primer on the template parent strand. Additionally, DNA pol can only read 3’ to 5’ (i.e. create DNA in the 5’ to 3’ direction)
prokaryotes have 5 main DNA polymerase enzymes. What is the function of DNA pol 1 and DNA pol 3?
DNA pol 3 –> this is responsible for the continuous and rapid 5’ to 3’ elongation of DNA. It also contains 3’-5’ exonuclease for proof reading ability
DNA pol 1 –> this has much slower processivity than DNA pol 3. DNA pol 1’s main job is to use its own 3’ to 5’ exonuclease activity to get chop up Okazaki primers and simultaneously replace them with new DNA (5’ to 3’)
what is the difference between an endonuclease and exonuclease?
endonuclease will cut the chain in the middle
exonuclease will cut at terminal sides
DNA pol 3 is the main polymerization enzyme and DNA pol 1 is the main primer replacement enzyme. DNA pol 2 however is also important, what it do?
DNA pol 2 is involved in DNA repair pathways!!
what is theta replication?
the replication of prokaryotic DNA since this DNA has is circular and has only one ORI region.
what are the three types of point mutations? explain each.
a point mutation is when one nucleotide is switched for another.
1. missense mutation –> the switch of nucleotides results in a different amino acid coded for
- nonsense mutation –> the switch of nucleotides results in a stop codon (nonsense codon) which causes premature end to translation.
- silent mutation –> same amino acid is the result.
what are deletions, insertions, and inversions.
all forms of mutations - typically frameshift
deletion + insertion are point shift if 3 nucleotides are added / removed together.
inversion - a segment of DNA is flipped often due to a transposon
what is a translocation mutation?
sometimes 2 non-homologous chromosomes can undergo recombination in which they switch parts of their genes.
Transposons are mobile genetic elements. Their basic structure is two inverted repeats surrounding a transposon gene. The transposon gene transcribes/translates for the enzyme transposase which comes back and cuts the transposon at the inverted repeats (in some cases its cut straight out, others its copied then cut out).
What is the IS element, complex transposon, and composite transposon?
IS element is the basic structure: 2 inverted repeats flanking a transposon gene
complex transposon –> includes some genes within the two inverted repeats
composite transposon –> contains two transposons with a region in-between
For IS elements and complex transposons, the transposase enzyme can copy and paste them into any other region of the genome. This can be placed in gene promoter regions, in intergenic DNA, or even in coding sequences.
Composite transposons have 2 effects. Explain what occurs if the two transposons run in the same direction vs. opposite directions.
same direction –> two transposons will cut out the middle section of DNA which can take one of the transposons with it and re-enter at another site in the genome.
opposite ( –>
what is hemizygosity?
haploid expression in a diploid organism.
diploids have 2 copies of each gene, but if one of those copies is unable to every be expressed, the person is hemizygotic for that gene.
Double strand break repair: explain the process of homologous recombination.
After DNA replication, there are homologous sister chromatids within the cell. As a result, if one sister chromatid has a DSB, the cell finds the normal homologous sister chromatid and uses it as a template.
- DNA nucleases trim the 5’ sides of the broken DNA to create single stranded hangovers
- Helicase unwinds the homologous sister chromatid which is assembled near the DBS chromatid.
- the unwound regions of the normal chromatid act as a template for polymerase 2 to synthesize normal DNA on the broken chromatid.
Double strand break repair: explain non-homologous end joining.
this is the process used when a cell is not undergoing cell division / is not in the cell cycle (since using a “back up chromosome” i.e. sister chromatid, is not possible)
this is much less accurate than homologous recombination.
note: these last two mechanisms are for DSB’s. there are other pathways for single stranded breaks
what is monocistronic and polycistronic, which one is eurkaryotes and which is prokaryotes?
mono - one gene, one protein
poly - one gene, any proteins
prokaryotes are often poly while euk are mono
what are microRNA, siRNA, and PIWI-RNA, and lnRNA?
micro and siRNA are involved in post-transcription modification where they interfere with mRNA
PIWI RNA is involved in inhibiting transposon mobilization
LnRNA is involved in regulating basal transcription levels