Unit 09: Genetic Evolution and the Study of Genes Flashcards

(61 cards)

1
Q

only mutations in _____ cells can be inherited

A

germ-line

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2
Q

in what situations does a neutral mutation occur?

A

when the cell is not affected.

silent mutations, mutations in unimportant regions of genome

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3
Q

what often happens when a gene is duplicated?

A

one copy of the gene retains its original function, while the other mutates to create a new gene.

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4
Q

how are genes duplicated?

A

mistakes in homologous recombination during DNA repair and crossing over

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5
Q

what are pseudogenes?

A

genes which become non-functional due to the accumulation of inactivating mutations

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6
Q

by which process are exons from one gene added to another?

A

exon shuffling

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7
Q

nearly all proteins coded in the human genome arose from duplication and _________

A

shuffling of exons!

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8
Q

what can be the effect of mobile gene elements inserting themselves into other regions of a chromosome?

A

disruption/alteration of function or regulation of genes

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9
Q

how have mobile genetic elements contributed to the evolution of corn?

A

upstream insertion of gene for seed development allowed for kernels to go frm hard -> soft

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10
Q

what are some mobile genetic elements?

A

transposons, parasitic genes, selfish genes, jumping genes

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11
Q

what is transposase?

A

enzyme encoded for by transposon, mediating movement by acting on nucleotides within transposon

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12
Q

in what type of organism are DNA only transposons common?

A

bacteria!

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13
Q

describe how transposons can rearrange DNA?

A

transposase can recognize mobile genetic elements on end of transposon, excising it.

the transposon can contain an exon, which is then put into another segment of DNA

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14
Q

what are retrotransposons? in what organisms r they very common?

A

transposons that move via an RNA intermediate

eukaryotes!!

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15
Q

what is the function of reverse transcriptase?

A

to create DNA from RNA template

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16
Q

does the L1 element encode its own reverse transcriptase? how much of our genome does it make up?

A

yes! 15%

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17
Q

does the Alu sequence encode its own reverse transcriptase? how much of our genome does it make up?

A

no! 10%

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18
Q

how do we think retroviruses evolved?

A

from retrotransposons that acquired the gene for a protein coat

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19
Q

what is horizontal gene transfer?

A

when two bacteria get super close and they licherally swap or give one another genetic material

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20
Q

how much of e.coli’s genome was acquired from other bacterial species thru HGT

A

1/5

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21
Q

what is a sex pilus?

A

a tube that connects two bacterial cells, allowing for the genetic material to pass from one cell to the other (conjugation!)

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22
Q

what is comparative genomics?

A

the study of comparisons between genomes

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23
Q

what are homologous genes?

A

similar nucleotide sequences due to shared ancestry in two diff organisms

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24
Q

what are highly conserved genes?

A

genes that code for an essential protein/RNA, whos mutations are disastrous!

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25
what does the leptin protein do?
hormone that controls body weight in diff organisms! part of the reason why gorillas r so much bigger than humans
26
what type of genes can we use to create phylogenetic trees?
rRNA!
27
what is conserved synteny?
regions in which corresponding genes are strung together in the same order in multiple species
28
what is purifying selection?
elimination of individuals carrying mutations that interfere with important functions. basically eliminates those who have regions that do not tolerate mutation but r mutated anyways
29
how much of the human genome is protein coding exons?
<1%
30
how many out of the 20 000 human genes code for functional RNA?
5000
31
how much of the human genome is highly conserved?
4.5%
32
how much of the human genome has reduced variation between humans?
5%
33
so how much of the human genome ACTUALLY matters?
<10%
34
what is the reason between differences between individuals?
single nucleotide polymorphisms (SNPs)
35
what are restriction enzymes?
enzymes that cut DNA into fragments at specific nucleotide sequences (4-8 nucleotides long). made naturally in bacteria
36
what type of gels are used in gel electrophoresis?
either agarose or polyacrylamide
37
what specifically fluoresces under UV light for gel electrophoresis?
ethidium bromide
38
how can DNA be isolated in gel electrophoresis?
by excising desired band w a scalpel
39
what is transformation?
the ability of some bacterial cells to be able to take up DNA molecules from their surroundings
40
what are the vectors used to carry DNA to be duplicated in bacteria called?
plasmids
41
describe how DNA is inserted into a plasmid vector.
1. plasmid is opened up by restriction enzyme 2. DNA fragment inserted into cleavage site by DNA ligase
42
describe how certain pieces of DNA are duplicated many times by bacteria.
basically we just put the target DNA in the plasmid and put it in the bacteria, as the bacteria multiplies, so does the target DNA. the cells are then lysed and plasmids are collected!
43
what is a genomic library?
collection of all plasmids in bacterial cell, representing the full genome of the organism
44
what is the cDNA library?
only contains the coding DNA in the genome!
45
describe PCR
reaction in which BILLIONS of copies of nucleotide sequences can be generated in only a few hours! vv sensitive and amplifies trace amounts of DNA
46
describe the selectivity of DNA hybridization in PCR
hybridization = ability of nucleic acid strand to bind to e/o bc of complimentary base pairing only specific primers are able to anneal to genes of interest in the DNA/RNA sample
47
what does DNA fingerprint refer to? what does it mean for choosing RNA primers?
DNA fingerprint refers to the unique DNA sequences that humans have. means that diff primers r required for diff humans!
48
how can PCR be applied? give some real world examples.
detection of infectious particles using primers specific to genes of suspected pathogen ex. detection of bioterrorist attacks, track epidemics, testing food products also forensics lolz
49
describe sanger sequencing
1. primer added to single strand fragment to be sequenced 2. much of the regular nucleotides are added, but the synthesis stops when a fluorescently labelled dideoxynucleoside is added (each one has a diff colour) 3. products are loaded onto capillary gel, from there gel electrophoresis occurs and size separated products are read in sequence
50
describe next generation sequencing (illumina)
vv similar to sanger but when the fluorescent nucleotide is added, we can take a picture, and then remove the fluorescent label part and chain terminator and continue synthesis on the SAME strand!
51
describe next generation sequencing (SMRT)
DNA Pol, DNA template, primer and dNTPs anchored tgt, w the attachment of nucleotides being determined one at a time
52
describe how RNA Seq works in determining gene function?
use reverse transcriptase to make cDNA from RNA and then allowing for a quantitative analysis of the transcriptome
53
what is the transcriptome?
all the RNAs produced by cell under certain conditions
54
describe how In Situ hybridization works in determining gene function?
single strand DNA and RNA probes are labelled w fluorescent dyes/radioactive isotopes to detect complimentary nucleic acid sequences. allows us to see exactly where certain RNAs are produced
55
describe how ribosome profiling works in determining gene function?
cell extracts are exposed to ribonucleases (which r supposed to breakdown RNA). mRNAs coated in ribosomes are not digested, and we can then make cDNA from them and analyze which mRNAs are being translated!
56
what is a reporter gene?
a gene that is replaced by a protein whose activity is easy to monitor which allows us to study regulatory sequences that control gene's expression ex. green fluorescent protein
57
RNAi can also be a method of _____
silencing genes allowing us to determine gene function
58
what is a transgenic organism?
an organism that had a gene inserted in their genome while they were still js a reproductive cell
59
what is gene knockout?
when activities of a gene are entirely eliminated
60
is the Cas9 enzyme sequence specific like other restriction enzymes?
naur
61
describe the steps of CRISPR gene editing
1. Cas9 produced double stranded break to a spot in DNA, guided by an RNA 2. altered version of target gene is then introduced via homologous recombination