Nuclear import and export II

Question 1

Male to female sex reversal

Answer 1

XY female with external feminine genitalia but a lack of formation of both ovaries and testes

Question 2

Normally Importin Beta 1 binds to _______ to translocate to the nucleus, where it can upregulate transcription of target genes

Answer 2

SRY

Question 3

Normally _______ binds to SRY to translocate to the nucleus, where it can upregulate transcription of target genes

Answer 3

Importin Beta 1

Question 4

Normally Importin Beta 1 binds to SRY to translocate to the _______, where it can upregulate transcription of target genes

Answer 4

nucleus

Question 5

If SRY lacks an NLS,

Answer 5

it will not be translocated to the nucleus and male sex determining genes will not be transcribed, resulting in male to female sex reversal

Question 6

Cowden syndrome

Answer 6

Autosomal dominant disease with high susceptibility to multiple hamartomas affecting derivatives of all three germ layers and by an increased risk of breast, thyroid, and endometrial neoplasia

Question 7

Cowden syndrome protein of interest

Answer 7

PTEN

Question 8

PTEN is normally translocated by

Answer 8

KapB

Question 9

Cowden syndrome: If there is no NLS

Answer 9

PTEN does not enter the nucleus

Question 10

Nup fusion in acute myeloid leukemia

Answer 10

NUP98/HOX fusions

Question 11

NUP98/HOX

Answer 11

aberrantly induces transcription of downstream HOX genes

Question 12

Role of NPC in aging

Answer 12

• No new NPCs are produced in post-mitotic cells
• This makes them prone to oxidative damage
• The result is a leaky nuclear pore

Question 13

Tissue specific disorder or developmental defect: Human Nup 155

Answer 13

AF

Question 14

Tissue specific disorder or developmental defect: Human Nup 98

Answer 14

Acute myeloid leukemia ; hematopoietic stem-cell

Question 15

Tissue specific disorder or developmental defect: Human Nup 62

Answer 15

primary biliary cirrhosis; autosomal recessive infantile bilateral striatal necrosis

Question 16

Tissue specific disorder or developmental defect: Human Nup 358/RanBP2 (-)

Answer 16

familial cases of infection-triggered acute nerotizing encephalopathy

Question 17

Nature of nucleoporin mutation: Human Nup 155

Answer 17

homozygous missense R391H

Question 18

Nature of nucleoporin mutation: Human Nup 98

Answer 18

multiple genomic translocations which result in fusion of Nup98 fragment including FG repeats, to another gene

Question 19

Nature of nucleoporin mutation: Human Nup 62

Answer 19

autoimmune antigen; homozygous missense Q391P mutation

Question 20

Nature of nucleoporin mutation: Human Nup 358/RanBP2 (-)

Answer 20

heterozygous missense mutation T585M