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Genetics Final
Flashcards for final exam
87
Biology
Undergraduate 3
12/10/2014

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Cards

Term
Number of chromosomes in Human+ diploid or haploid?
Definition
46 and diploid- one from mom and one from dad
Term
Geimsa Staining
Definition
A way of staining DNA and allows us to identify chromosomes on a karyotype
Term
How to do chromosome painting? What is the point of is?
Definition
Another method to identify chromosomes. have small "probes" of DNA labelled with a special dye (different color). Hybridize with metaphase chromosomes. Align matching chromosomes
Term

Dosage compensation in a chromosome?

What is done to female chromosomes?

Definition

Adjusts number of sex cells

X inactivation of 1 X chromosome randomly (called a barr body)

Term
Is the barr body completely inactivated?
Definition
No, Xist gene activated to keep X inactivated
Term

Are there any genes active on the Y chromosome? If so, what are they??

Definition

Yes. Pseudoautosomal regions at the tips, gives X-Y homologity. Passed down to generations of sons just like any autosomal trait would be.

Also, SRY genes (testes determining factor) which gives rise to male characteristics

 

Term
Mutations on Y chromosome?
Definition
SRY mutation can lead to XY females if Y chromosome is mutant
Term
Chromosome wise, what happens in Turner syndrome?
Definition
Only have X chromosome. Female phenotypically. Delayed puberty,abnormal features, infertility...45X
Term
What is Kleinfelter syndrome?
Definition
47 XXY, men, less body hair, infertility, may develop breasts
Term
What is a haplotype
Definition
Set of alleles at multiple loci/DNA variations/polymorphisms that tend to be inherited together
Term
Describe Y chromosome inheritance
Definition

Usually use SSRs (simple sequence repeats)

Men have recent common ancestor with these

Genghis Khan-> large percentage of descendants in Asia

Term
Aneuploidy? Also what other types are there?
Definition

Not having the same number of each chromosome

Trisomy= third copy of 1 chromosome

Monosomy= only 1 particular copy

Term
Polyploidy
Definition
extra set of all chromosomes
Term
What is down syndrome and its chromosomal cause?
Definition

result of trisomy 21

Usually caused by translocations in which genes move around positions to other chromosomes.

Term
Trivalent vs univalent
Definition

2 chromosomes try to pair up with 1 chromosome

vs

1 chrom left along

Term
Relationship between deletions and recessive traits?
Definition

chromosome which is pure breeding but has deletions will let the recessive only show

E.G Normally: ABCDE and abcde

now: ABC and abcde

Term
What causes duplications?
Definition

Unequal crossing over

in which one chromosome gets more genes from the other chromosome than should have

Term

What causes inversions? What is the problem with them

What happens with this problem?

Definition

Breaks in DNA

Fine in mitosis

Cause problems in meiosis. Form loops since opposite sides of those genes trying to attach. Everything's fine if there's no crossing over.

Term
Problem with crossing over in inversion loops?
Definition
1 chromosome will get 2 centromeres (dicentric) and the other will be acentric
Term

Translocations

and reciprocal translocations

Problems with the latter?

Definition

chromosomes break and fragments join to other chromosome

 

2 non homologous chromosomes break and exchange parts; problems with fertility

Term

Robertsonian translocations

related to what disease?

Definition

fusion of acrocentric chromosomes (centromere on an extreme side)

Down syndrome, since this happens with chromosome 21

Term
Monoploid vs haploid
Definition

1 of each chromosome vs half the number of total chromosomes

if tetraploid= 36, haploid= 18, monoploid= 9

Term

Purine vs Pyramidine bases?

Also, # of hydrogen bonds between each nitrogenous base pair?

Definition

Purine= 2 ring (A and G) Pyramidine= 1 ring (T and C)

AT= 2

GC= 3

Term

Structural differences between A, G, C, and t

 

Definition

2 rings

A- NH2 on top

G- C=O and NH2

 

1 ring

C- C=O NH2

T- C=O, C=O, CH2

 

Term
Nucleoside vs nucleotide
Definition
Nucleoside does not include the phosphate
Term
DNA replication is "semi conservative"?
Definition
each DNA strand is used as a template for a new strand
Term
Describe directionality in DNA strand + how you add the nucleotides
Definition
Add to 5' end towards 3' end. Read template 3' to 5'.
Term
If there is a mismatch pair by DNA polymerase, what fixes this?
Definition
exonuclease-> cleaves the mistake right out
Term

Direction of prokaryotic dna replication?

This vs eukaryotic replication?

Definition

Bi-directional. Forked, and then replicates both ways

Euk: also has a fork and is bi-directional. Can start another fork/replication process simultaneously; eventually these bubbles can fuse.

Term
Leading vs lagging strand in DNA
Definition

leading= newly synthesized DNA strand that is doing things smoothly

lagging= due to okazaki fragment

Term
Sanger Sequencing?
Definition

Method of identifying bases + sequencing the strand

Get newly synthesized dna + template

Primer kept there as a "visible" marker

place each in a tube with dNTPs, individual ddntps (end the sequence) and dna polymerase

can help sequence out where bases are individually

Term
PCR?
Definition

amplification of a small segment of DNA

add dntps, dna template, dna polymerase, and a buffer (adjusts ph and provides Mg++)

 

denature, anneal, extend-> all based on temperature; do for several cycles till you have a high amount of target dna (exponential increase)

Term
Phases of bacterial growth
Definition

exponential= increasing growth

stationary= pop stabilizes due to less resources

Term
ampr, Met-, and lac-?
Definition

can grow in presence of ampicilin

can't synthesize methionine and therefore require it in media

can grow fine on plates with glucose but can't synthesize lactose

Term
Persister cells
Definition

dormant cells that are not killed by most antibiotics which are targetting dividing cells

these are NOT mutant cells; just regular cells chilling out

once antibiotic is removed, the ones surviving can reestablish the infection and biofilm of cells

Term
Where does the genetics of DNA for bacteria come from?
Definition

"extra" DNA elements, aka plasmids

Most of genome contained in original circular dna

Term
Transformation of bacteria
Definition

pick up DNA from environment

usually remnants of dead bacteria (like smooth vs rough staph cells)

Term

Are most plasmids conjugative?

If not, what helps them to become conjugative?

Definition

No, but can "hitch a ride" with conjugative plasmids via recombination...if they're small enough

transposable elements + recombination helps switch gene parts around to make non conjugative plasmids conjugative (called a cointegrate)

Term
What ise F factor in DNA
Definition

this is a plasmid that has many genes, ensures its own maintanence in the cell and that it will move from cell to cell

directs f pilus formation

"rolling circle" replication so it can keep rolling out copies. nuclease makes a nick in the dna befre this process

new dna gets f factor, replicated, then both cells seperate

still, highly selected against as a form of balance

 

 

Term

Tranduction?

 

generalized transducing phage vs specialized?

Definition

tranducing phage (virus) can transfer pieces of dna between bacteria

transfers dna by accident vs tries to transfer its own genome + specific other dna

 

Term
How to detect lytic bacteria?
Definition
Plaque formation on colonies of bacteria on petri dish
Term
Lysogenic cycle
Definition

phage dna enters cell + integrates itself into bacterial genoome (called a prophage); these are called temperate phages cuz they don't attack immediately

prophages can be activated, excise themselves from genome, and begin lytic phase

but before then, basically a part of the bacterial genome

Term
bacterial defense against prophages?
Definition
restriction enzymes to cut prophage out
Term
Prokaryotic gene structure?
Definition
basically...promoter region with distal elements (additional regulatory elements), coding region, terminable region
Term
thymine vs uracil?
Definition
thymine has the extra CH3
Term

steps for transcription in prokaryotes?

are there introns?

Definition

see promoter region (beginning of gene), chain initiation (start transcribing here), chain elongation (make rna molecule), chain termination (stop at right place); then termination happens where end of mRNA are repeats so form "stem loop"/hair pin to signal end

all done by rna polymerase

no introns. primary transcript...that's it. ends are just untranslated regions

Term
eukaryotic transcription
Definition

RNA polymerase binds to promoter, dna seperates, keeps transcribing then in a 5->3 fashion; chain initiation and elongation; then termination

also promoter regions/enhancers much more complicated here;

5' cap and poly-A tail at ends for stability

Term
Can a new transcript start even before the previous one is done?
Definition
yes to pros; also can have transcription done from the other strand as well
Term
what is a ribozyme? give an example
Definition

RNA strands that fold up on their own + catalyze on their own

e.g. self splicing introns

Term
what is alternative splicing, and what's it's significance?
Definition
when the transcripts themselves have every other exon spliced... different proteins are made
Term
How is a peptide bond formed?
Definition

Hydrolysis

Also becomes O=C-N-H

Term
Transcription and translation are coupled in...
Definition

prokaryotes.

eukaryotes- they occur in seperate domains of the cell

Term
steps for translation
Definition

initiation- ribosome assembles, initiation factors bind the mrna (attach at 5' cap) and help start translation at start codon

elongation- A= active sight for trna; moves and waits in p area then leaves aa behind to the growing chain

termination- stop codon, release factors recognize + help ribosome dissociate

Term
what enzyme catalyzes the attachment of an amino acid to trna?
Definition
aminoacyl-trna synthetase
Term
role of ribosome in translation?
Definition
40s= small subunit; first where everything binds; 60s is later recruited by intiation complex
Term
what is the shine-dalgarno sequence? kozak?
Definition

sequence which helps bacteria recruit ribosome to mrna to begin protein synthesis

kozak does the same but in euks

Term
trna structure? also how do you read an anticodon and match it to the correct codon?
Definition

charged; has 3 loops and bottom has the anticodon, aa attached at CCA 3' end of trna

 

Okay so...

5'CAU'3 = 5'AUG'3

so look at 3-> 5 of anticodon: 3'UAC'5, and then find 5'-3' corresponding codon

Term
termination of translation?
Definition
release factor moves into A site, and this indicates that the aa strand should be released from ribosome, everything now dissociated
Term
what is an open reading frame?
Definition
this is the longest strand of mrna without meeting a stop codon
Term
what is "wobble"?
Definition
it is the fact that the third nucleotide in the anticodon is less constrained, and therefore can fit with more than 1 codon at a time
Term
anticodon: inosine. significance?
Definition
can pair with A, C, or U...follows wobble principle
Term
types of protein folding?
Definition
polypeptide backbones/twists/turns in: right-handed alpha helix (swirly) and  anti-parallel beta sheets
Term
chaperonin
Definition
barel like structure which, with the help of heat, helps protein to fold
Term
coordinate gene regulation and polycistronic mrna
Definition

1. all genes are turned "on' and "off" as a unit

2. these are the mrna's that undergo this type of regulation

Term

positive regulation and positive feed back

 

also what does "off" really mean?

Definition

by default, genes in operon are "off" unless an activator turns them "on"

protein expressed turns its own genes ON-> amplifies a weak signal

 

mrna still being made, just at a realllyyyy small amount

Term

Explain the lac operon

Lac Z? (along with what enzyme)? what brings lactose into the cell? what does i, p, o, y, a, and z do? LacI?

what is an inducer and what is it in this case?

Definition

beta-galactosidase

these two turn lactose into gluc and glyc

lactose permease does that

i= encodes repressor

p= promoter where rna polymerase binds to

o= operator where the repressor, LacI, binds to, z/y/a= genes for sugar metabolism

this entire thing works if lactose is present

inducer turns off repressor (done to help save energy)-> this is what lactose does to LacI

Term
what happens if glucose is low?
Definition
CAMP levels are high (signaling molecule); CRP binds to CAMP, binds to p region of lac operon to positively turn the operson on to make more sugar; now can only work if lactose is present as well
Term

trp operon: similar to lac?

what type of pathway is this? what is the corepressor?

what senses the level of tryptophan and how?

Definition

the opposite: if trp is present, operon does not work because naturally it wants to produce trp

aporepressor

it is anabolic

trpL (the leader sequence; part of mRNA)

trp-TRNA is an anticodon which binds to trpL only if tryptophan levels are high...if not, this doesn't happen

 

 

 

 

Term
what is the term for controlling transcription?
Definition
attentuation
Term
ribosome role in Tryptophan?
Definition

LOW TRYPTOPHAN LEVELS:

ribosome stalls...will not see trp-trna, and anti-terminator loop will form; transcription will continue

 

HIGH LEVELS:

ribosome not stalled; terminator stem loop will form (which looks like a typical terminator loop lol); trp-trna abundance; transcription terminated

Term
what are housekeeping genes?
Definition
genes common to most if not all cells, mostly for "maintainence" purposes
Term
does every cell in the body have the same genome?
Definition

Yes

the difference in function is due to genetic expressibility

Term
what are basal transcription factors?
Definition
protein that help with transcription of many genes
Term
in gene expression, what is "recruitment"?
Definition
the interaction of transcription factors and promoters/enhancers
Term
what are transcription factors?
Definition
factors which bind to DNA to activate or repress transcription
Term
What are the two types of transcription factors?
Definition

general and transcriptional activators and repressors

the second does either to specific genes; the first is just generally interacting with the operon

Term
what are DNA binding domain and activating domain?
Definition

domains of a protein

DNA binding specifically binds to sequences of DNA near regulated genes; activating= interacts with other proteins to regulate transcription 

Term
what is the helix-turn-helix motif?
Definition
just a general shape of the proteins which affect gene expression
Term
what is the zinc finger motif?
Definition
folded protein specifically use this to bind dna...
Term
what is an upstream activator sequence?
Definition
another name for dna binding domains and enhancers
Term
what three enzymes affect galactose metabolism?
Definition
gal7, gal10, gal1
Term
what happens to galactose metabolism when galactose is around? (hint, refer to the proteins in the sequence)? how about when not around?
Definition

gal3 binds with galactose and gal80, and goes to the cytoplasm; galactose metabolism continues with the other 3 enzymes

 

otherwise, no galactose means that gal 80 can inhibit gal 4, and cannot complete the full process

Term

 

Transcriptional activation requires the activating transcription factor, the basal transcription factors and...

 

Definition
the RNA polymerase holoenzyme.
Term
chromatin remodeling complex?
Definition
makes it easier to access enhancers and stuff
Term
what is epigenetic silencing?
Definition
it is done by methylated silencing of genes
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