Nucleus

Question 1

What is the on and off switch in nucleus ?

Answer 1

Ran Gap- inactive
Ran GEF - ACTIVE

Question 2

Explain the process of import and export in the nucles ?

Answer 2

Nls binds to importin
Goes through Nuclear pore
Ran-GTP binds to importin and cleave NLS
Complex Cleaves nucles
RAN-GAP cleaves importin
Ran-GDP gets back into nucleus
Activated by RAN-GEF

Question 3

What rna does CB/GEMS form ?

Answer 3

SnRNPs to SPECKLES (Pre Mrna splicing)
SnoRNP to Nucleolus (rRna transcription)

Question 4

Autosomal recessive Diseases causes

muscle weakness and trophy
Hypotonia
Dysphagia
Respiratory problems
Loss of motor neurons ?

Answer 4

Spinal muscular atrophy
Mutation of SMN protien
Defective SNRNP

Question 5

What are the three types of Lamina ?

Answer 5

(A, C) AND B

Question 6

How does lamina separates the nucles into two during prophase ?

Answer 6

Turns off lamina by phosphorylation by Cdk1

Question 7

AD Disease that causes

CONTRACTURE
SUDDEN HEART FAILURE
MUSCLE WEEKNESS

Answer 7

EMERY DREIFUS MUSCULAR DYSTROPHY

MUTATION IN EMERIN OR LAMIN A/C

Question 8

AD DISEASE

FRAGILE NUCLEAR LAMINA
CONGESTIVE HEART FAILURE
DAMAGE TO NUCLEAR STRUCTURE

Answer 8

DIALATED CARDIOMYOPATHY

Question 9

AD DISEASE
ACCUMULATION OF ADIPOSE TISSUE IN FACE AND NECK
MUSCLE PROMINENCE

Answer 9

LIPODISTROPHY

LAMIN A/C DEFECT
PRELAMIN A + ADIPOCYTES

Question 10

AD DISEASE
PREMATURE AGING
18-24 M/O
LIFE EXPECTANCY -13 YEARS

Answer 10

HGPS
ALTERED LAMIN A