Organisation of the Human Genome Flashcards

1
Q

The amount of DNA contained within a haploid nucleus or one half the amount in a diploid somatic cell of a eukaryotic organism is referred to as

A

the c value

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2
Q

what is the c value measured in

A

picograms or kilobases

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3
Q

what does the c value equate to in humans

A

3.2 x 10^9 bases or 6.55 picograms

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4
Q

what is the genome defined as

A

the complete dna sequence of an organism

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5
Q

what is the expectation of the c value

A

proportional to the genetic complexity (number of genes) of an organism

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6
Q

the number of genes in bacterial and archaeal genomes correlates with

A

the genome size and the complexity of the organism

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7
Q

does the number of genes in a eukaryote correlate with the genome size or the complexity of the organism

A

nope

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8
Q

what is the c value paradox

A

the lack of relationship between the dna content (c-value) of an organism and its coding potential

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9
Q

what percentage of the human genome consists of introns

A

24%

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10
Q

what percentage of the human genome consists of exons - protein coding sequences

A

1.2%

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11
Q

8.5% of the human genome is made of

A

protein binding sequences

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12
Q

on heating DNA what happens to it and what is this called

A

the strands separate and this is called DNA melting

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13
Q

melting involves what to happen to the DNA

A

progressive breaking of base pairs in the double helix

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14
Q

the melting temperature is determined by what?

A

the base composition of the DNA

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15
Q

which base pairs melt at a lower temperature

A

A:T base pairs melt at lower temperatures than G:C

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16
Q

the temp at which DNA is half unfolded is referred to as

A

the melting temperature Tm

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17
Q

the higher the G:C ratio the higher the

A

Tm

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18
Q

DNA melting can be followed in a

A

spectrophotometer

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19
Q

at what temperature is the chance in absorbance measured at in a dna melting curve

A

260nm

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20
Q

nucleotide bases absorb UV light at a wavelength of

A

260nm

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21
Q

if melted dna is rapidly cooled complementary strands remain

A

separated

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22
Q

if melted dna is slowly cooled then what will happen to the complementary strands

A

they will pair up again

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23
Q

what is the process of the strands pairing up again called

A

dna reannealing or renaturation

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24
Q

dna reannealing is the basis of which technique

A

dna hybridisation

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25
what four factors is the rate of dna reannealing measured by
concentration, length, composition and complexity
26
the extent of dna reannealing is governed by
time
27
dna reannealing is measured by a
c0t value
28
what is a c0t value and what units
concentration x time in mols per second
29
the lower the c0t value the
less complex
30
dna reanealling experiments show that prokaryotic genomes are
kinetically simple
31
prokaryotic dna reanneals as if it were a
single unique length of dna with no sequence repeats
32
dna reannealing experiments show that eukaryotic genomes are
kinetically complex
33
eukaryotic genomes contain
several classes of dna
34
the fast component in c0t curve is
highly repeated dna sequences
35
the intermediate component of a c0t curve is
moderately repeated dna sequences
36
the slow component of a c0t curve is
non-repetitive or single copy dna sequneces
37
highly repetitive dna is present in almost all
higher eukaryotic genomes
38
what c0t range does highly repetitive dna have
low c0t range 10-4 to 10-2
39
highly repetitive dna doesnt have coding function, what does it do instead?
provide a structural function
40
repeats arranged head to tail in blocks of various lengths are called
tandem arrays
41
repeated regions interspersed within the chromosome are called
interspersed regions
42
what is the longest tandem array known
human alphoid dna
43
major classes of tandemly repeatedly human dna are classified according to size into which three classes
satellite, minisatellite and microsatellite
44
most random sequence dna has a similar buoyant density and forms part of the
main band
45
if one short sequence is repeated many times in a tandem array, it forms what in the equilibrium densitry centrifugation experiment
satellite DNA band
46
which two ways allow expansion of tandemly repeated human dna?
unequal crossing over and replication slippage
47
what does unequal crossing over result in
one recombinant with a deletion of material and one with a duplication
48
what does a replication slippage result in
each slippage adds one repeating unit to the daughter strand
49
where are microsatellites found
widely disperesed over the chromosome
50
where are minisatellites found
telomere
51
tandem repeats of which sequence minisatellite are found at the telomeres
TTAGGG
52
the centromere contains
various satellite components
53
structural intermediate repetitive DNA contains diff classes, these are
retrovirus/LTR retrotransposons, LINEs and SINES and then we have coding DNA
54
The LINE1 element has two open reading frames which are
ORF1 and ORF2
55
ORF1 encodes what
a rna binding protein
56
ORF2 encodes
a protein with both endonuclease and reverse transcriptase activities
57
Lines have a RNA mediated
transposition event
58
what does a retrovirus encode for
integrase and reverse transcriptase activities
59
retrovirus is a rna mediated
transposition event
60
give an example of a sines
alu repeat
61
infromational intermediate repetitive dna exists and contains genes for
histones, collagen, keratins, rRNA, tRNA
62
slow annealing dna is
unique
63
protein coding dna makes
mRNA