Unit 3 Exam lecture 17

Question 1

What is a mutation that does not change the function of the protein

Answer 1

neutral mutation

Question 2

What mutation causes complete or partial absence of normal protein function

Answer 2

loss of function mutation

Question 3

what mutation produces an entirely new protein that may have an unrelated function from its origin

Answer 3

gain of function mutation

Question 4

What are suppressor mutations

Answer 4

restore non mutated function

Question 5

the number of copies in a tandem repeat (micro-satellite) correlates with what

Answer 5

the severity of the disease

Question 6

Microsatellites/tandem repeats can affect the protein or

Answer 6

be located in trans

Question 7

Myotonic dystrophy is an example of what type of genetic disease

Answer 7

tandem repeats

Question 8

what are the two genes linked to myotonic dystrophy

Answer 8

myotonin protein kinase and ZNF9, and both contain repeat sequences

Question 9

calculations of mutation rates are affected by

Answer 9

1. frequency with which DNA mutates
2. probability of repair
3. Probability that mutation will be recognized and recorded

Question 10

Are mutation rates constant within the genome

Answer 10

yes they are and they have an equal likelyhood of happening anywhere in the genome due to mistakes in DNA polymerase

Question 11

What happens next after muations happen

Answer 11

beneficial mutations stay, harmful die out, neutral have no effect

Question 12

What are the two classes of DNA mutations

Answer 12

internal factors (random error in DNA pol) and external factors (exposure to mutagenic compounds)

Question 13

what is a tautomeric shift

Answer 13

where the positions of protons on the nitrogenous bases change and allow allow misspriming (anomalous base paring)

Question 14

what is the main example of a spontaneous chemical change

Answer 14

depurination

Question 15

what is the overall process and results of depurination

Answer 15

1. loss of a purine (apurinic site)
2. strand separation
3. A incorporated into complementary new strand
4. Old strand still has gap
5. Strand separation
6. starts cycle of A being incorporated into complementary new strand over and over

Question 16

dislodging electrons by radiation leads to formation of

Answer 16

free radicals and thymine dimers

Question 17

What are the steps of mismatch repair enzymes

Answer 17

1. detection
2. excision (DNA repair endonuclease)
3. Polymerization
4. ligation

Question 18

How do transposable elements cause mutations

Answer 18

inserting themselves within genes or by promoting rearrangements

Question 19

How do transposable elements cause rearrangements

Answer 19

promoting non homologous recombination due to missalinement at metaphase plate

Question 20

What is the process of a transposable element being inserted into genome

Answer 20

1. staggared cuts made by transposase
2. insertion of transposable element
3. staggard cuts filled in by DNA pol for flanking direct repeats

Question 21

End of most transposable elements are what

Answer 21

terminal inverted repeats

Question 22

What would the complementary inverted repeat be for TAGCGT on bottom left of transposable element

Answer 22

Top right would be TGCGAT

Question 23

What would the complementary flanking direct repeat be for ACGTT on the bottom left of the transposable element

Answer 23

bottom right would be ACGTT

Question 24

transposase does what

Answer 24

makes staggard breaks in DNA for transposon insertion

Question 25

Two classes of transposable elements are

Answer 25

class 1 retrotransposons and class 2 DNA transposons

Question 26

Lines and sines are what specifically

Answer 26

class 1 retrotransposons

Question 27

DNA transposons are what class and use what mechanisms

Answer 27

Class 2 and use EITHER copy paste or cut and paste

Question 28

What is the process of a retrotransposon making a new copy and inserting

Answer 28

1. Retrotransposon sequence transcribed to RNA
2. undergoes reverse transcription = double sided DNA
3. staggered cuts
4. insertion of new transposon
5. replication fills in flanking direct repeats

Question 29

What is the genetics of black grapes

Answer 29

simply has gene regulating the synthesis of anthocyanin pigments (black)

Question 30

What is the genetics of white grapes

Answer 30

have Gret 1 retrotransposon inserted near anthocyanin gene that disrupts anthocyanin synthesis (white)

Question 31

What is the genetics of red grapes

Answer 31

second mutation where most of Gret 1 retrotransposon is removed but a piece is left behind partially restoring anthocyanin (red)

Question 32

What is the retrotransposon that causes loss of pigment in grapes

Answer 32

Gret1

Question 33

What are the two transposable elements in Maize

Answer 33

Ds and Ac

Question 34

what is significant about Ds transposon

Answer 34

lost its transposes so requires Ac to move

Question 35

A Cc genotype in maize with no transposon insertion gives what color

Answer 35

purple kernels

Question 36

A cc genotype in maize with no transposon insertion gives what color

Answer 36

white kernels

Question 37

A Cc genotype with the Ds transposon integrated into the C allele causes what genotypic and phenotypic effects

Answer 37

conversion of Cc to Ctc stopping transcription of C so you will only have c which means yellow kernel

Question 38

What happens if the Ds transposon is removed from the Ctc gene

Answer 38

get mix of purple and white in corn depending on how early transposition occurred

Question 39

Sleeping beauty is what

Answer 39

synthetic transposable element

Question 40

How is sleeping beauty made

Answer 40

components of multiple different transposable elements from multiple different organisms

Question 41

Insertion of SB into Slc16a10 in mice increased

Answer 41

type 1 diabetes in mice