B2.053 RNA Processing And Gene Regulation

Question 1

What is SMN1 protein

Answer 1

Interacts with snRNPs and is critical for snRNP assembly (U1-U6)

Question 2

What does SMN2 do

Answer 2

Partially compensate for loss of SMN1,

Most SMN2 mRNAs have exon 7 spliced out, this produces truncated, less stable protein

Question 3

What are patterns of alternative exon usage suggestive of

Answer 3

One gene can produce several different related protein species

Question 4

What is KLF6

Answer 4

Tumor suppressor gene associated with prostate cancer risk

Question 5

What is KLF6-SV1

Answer 5

Protein mutation that remains in cytosol

Question 6

SMA

Answer 6

Global alteration in splicing due to defect in snRNP assembly

Question 7

Prostate cancer risk is increased by

Answer 7

SNP that changes the splicing of one mRNA altering the function of one critical protein

Question 8

Beta thalassemia major

Answer 8

Causes sever anemia
Two versions
Reduced beta globin
Absent beta globin

Question 9

Where is the mutation in beta thalassemia

Answer 9

Intron 2 exon 3 location

Question 10

How does a mutation cause beta thalassemia

Answer 10

The mutation causes there to be a stronger splicing site in the intron

Question 11

In beta thalassemia intron 2 acceptor site mutation kills the acceptor site and

Answer 11

The cryptic splice site in intron 2 is used instead

Question 12

What 3 things can alter ratio of splice variants for specific genes

Answer 12

SNP/mutation alters splice donor or acceptor (beta thalassemia)
SNP/mutation alters binding of factor (prostate CA) or Factor that regulates splicing
SNP/mutation alters machinery needed for splicing to occur (SMA)

Question 13

What is AON

Answer 13

Anti sense oligonucleotide that can bind to a splice site and prevent splicing there

Question 14

What is dystrophin

Answer 14

Part of anchoring complex in membrane, anchors muscle cells to basement membrane

Question 15

Loss of dystrophin

Answer 15

Tears in sarcolema (muscle cell membrane) causes muscle demise

Question 16

What is duchennes

Answer 16

Many types of mutations, all lead to loss of protein/C terminal dystrogycan interacting domain

Question 17

Beckers MD

Answer 17

Splicing defect resulting in reduced number of spectrin like repeats, but reading frame is intact

Question 18

Which is more sever duchennes or Becker’s

Answer 18

Duchennes

Question 19

How do you turn duchennes into Becker’s

Answer 19

Splice out the mutation that causes the premature stop codon